Incidental Mutation 'R1456:Mapk8ip3'
| ID |
161824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk8ip3
|
| Ensembl Gene |
ENSMUSG00000024163 |
| Gene Name |
mitogen-activated protein kinase 8 interacting protein 3 |
| Synonyms |
JSAP1c, JSAP1b, JNK-interacting protein 3, Jip3, D17Wsu15e, JSAP1, JSAP1d, Syd2, sunday driver 2, JSAP1a, JUN/SAPK-associated protein 1, c-Jun NH2-terminal kinase (JNK)/stress-activated protein kinase-associated protein 1 |
| MMRRC Submission |
039511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.808)
|
| Stock # |
R1456 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25116480-25155951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25125923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 439
(N439K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088345]
[ENSMUST00000115228]
[ENSMUST00000115229]
[ENSMUST00000117509]
[ENSMUST00000119115]
[ENSMUST00000120035]
[ENSMUST00000121723]
[ENSMUST00000146923]
[ENSMUST00000121787]
[ENSMUST00000178969]
[ENSMUST00000146706]
|
| AlphaFold |
Q9ESN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088345
AA Change: N439K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085683
Gene: ENSMUSG00000024163
AA Change: N439K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.4e-72 |
PFAM |
|
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
270 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
417 |
472 |
6e-20 |
PDB |
|
coiled coil region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
901 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
940 |
N/A |
INTRINSIC |
|
SCOP:d1flga_
|
987 |
1167 |
4e-8 |
SMART |
|
Blast:WD40
|
1075 |
1116 |
6e-18 |
BLAST |
|
low complexity region
|
1260 |
1276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115228
AA Change: N433K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110883
Gene: ENSMUSG00000024163
AA Change: N433K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.4e-72 |
PFAM |
|
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
270 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
411 |
466 |
7e-20 |
PDB |
|
low complexity region
|
567 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
878 |
886 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
925 |
N/A |
INTRINSIC |
|
SCOP:d1flga_
|
972 |
1152 |
3e-8 |
SMART |
|
Blast:WD40
|
1060 |
1101 |
6e-18 |
BLAST |
|
low complexity region
|
1245 |
1261 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115229
AA Change: N447K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110884
Gene: ENSMUSG00000024163
AA Change: N447K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
29 |
184 |
2.9e-60 |
PFAM |
|
low complexity region
|
244 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
|
Pfam:JIP_LZII
|
423 |
493 |
3.1e-32 |
PFAM |
|
coiled coil region
|
533 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
948 |
N/A |
INTRINSIC |
|
SCOP:d1flga_
|
995 |
1175 |
4e-8 |
SMART |
|
Blast:WD40
|
1083 |
1124 |
7e-18 |
BLAST |
|
low complexity region
|
1268 |
1284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117509
AA Change: N416K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112712
Gene: ENSMUSG00000024163
AA Change: N416K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.4e-72 |
PFAM |
|
low complexity region
|
238 |
247 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
394 |
449 |
7e-20 |
PDB |
|
coiled coil region
|
502 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
746 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
917 |
N/A |
INTRINSIC |
|
SCOP:d1flga_
|
964 |
1144 |
3e-8 |
SMART |
|
Blast:WD40
|
1052 |
1093 |
6e-18 |
BLAST |
|
low complexity region
|
1237 |
1253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119115
AA Change: N407K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112955
Gene: ENSMUSG00000024163
AA Change: N407K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.3e-72 |
PFAM |
|
low complexity region
|
229 |
238 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
385 |
440 |
7e-20 |
PDB |
|
coiled coil region
|
493 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
737 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
908 |
N/A |
INTRINSIC |
|
SCOP:d1flga_
|
955 |
1135 |
3e-8 |
SMART |
|
Blast:WD40
|
1043 |
1084 |
5e-18 |
BLAST |
|
low complexity region
|
1228 |
1244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120035
AA Change: N438K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114084
Gene: ENSMUSG00000024163
AA Change: N438K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.4e-72 |
PFAM |
|
low complexity region
|
235 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
416 |
471 |
6e-20 |
PDB |
|
coiled coil region
|
524 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
768 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
900 |
N/A |
INTRINSIC |
|
low complexity region
|
927 |
939 |
N/A |
INTRINSIC |
|
SCOP:d1flga_
|
986 |
1166 |
3e-8 |
SMART |
|
Blast:WD40
|
1074 |
1115 |
6e-18 |
BLAST |
|
low complexity region
|
1259 |
1275 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121723
AA Change: N408K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113698
Gene: ENSMUSG00000024163
AA Change: N408K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1e-72 |
PFAM |
|
low complexity region
|
230 |
239 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
386 |
441 |
7e-20 |
PDB |
|
coiled coil region
|
494 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
723 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
862 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
909 |
N/A |
INTRINSIC |
|
SCOP:d1flga_
|
956 |
1136 |
3e-8 |
SMART |
|
Blast:WD40
|
1044 |
1085 |
5e-18 |
BLAST |
|
low complexity region
|
1229 |
1245 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146923
AA Change: N439K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114802
Gene: ENSMUSG00000024163
AA Change: N439K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.4e-72 |
PFAM |
|
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
270 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
417 |
472 |
6e-20 |
PDB |
|
coiled coil region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
901 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
940 |
N/A |
INTRINSIC |
|
SCOP:d1flga_
|
987 |
1167 |
4e-8 |
SMART |
|
Blast:WD40
|
1075 |
1116 |
6e-18 |
BLAST |
|
low complexity region
|
1260 |
1276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121787
AA Change: N402K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113753
Gene: ENSMUSG00000024163
AA Change: N402K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
3.8e-73 |
PFAM |
|
low complexity region
|
230 |
239 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
380 |
435 |
8e-20 |
PDB |
|
coiled coil region
|
488 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
856 |
864 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
903 |
N/A |
INTRINSIC |
|
SCOP:d1flga_
|
950 |
1130 |
3e-8 |
SMART |
|
Blast:WD40
|
1038 |
1079 |
6e-18 |
BLAST |
|
low complexity region
|
1223 |
1239 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178969
AA Change: N439K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136924
Gene: ENSMUSG00000024163
AA Change: N439K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.1e-72 |
PFAM |
|
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
270 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
417 |
472 |
6e-20 |
PDB |
|
coiled coil region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
901 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
940 |
N/A |
INTRINSIC |
|
SCOP:d1flga_
|
987 |
1167 |
3e-8 |
SMART |
|
Blast:WD40
|
1075 |
1116 |
6e-18 |
BLAST |
|
low complexity region
|
1260 |
1276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146706
AA Change: N227K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118422
Gene: ENSMUSG00000024163
AA Change: N227K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
64 |
N/A |
INTRINSIC |
|
Pfam:JIP_LZII
|
203 |
235 |
1.6e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145357
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133198
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132258
|
| Meta Mutation Damage Score |
0.4379 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.9%
|
| Validation Efficiency |
98% (90/92) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in impaired lung morphogenesis, causes absence of the telencephalic commissure with multiple defects in brain development and axon guidance, may affect synaptic transmission, and invariably leads to neonatal death due to respiratory failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
C |
T |
2: 19,485,731 (GRCm39) |
|
probably null |
Het |
| 4932414N04Rik |
A |
T |
2: 68,546,558 (GRCm39) |
E80V |
possibly damaging |
Het |
| Alkbh3 |
A |
G |
2: 93,831,764 (GRCm39) |
|
probably null |
Het |
| Ankar |
A |
T |
1: 72,704,277 (GRCm39) |
Y664N |
probably benign |
Het |
| Arhgap18 |
T |
C |
10: 26,792,436 (GRCm39) |
I629T |
probably benign |
Het |
| Arhgef28 |
C |
T |
13: 98,211,510 (GRCm39) |
E158K |
probably benign |
Het |
| Asxl2 |
C |
T |
12: 3,551,872 (GRCm39) |
H1205Y |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,916,285 (GRCm39) |
I427V |
probably benign |
Het |
| Camk4 |
A |
G |
18: 33,262,896 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
A |
T |
18: 22,283,481 (GRCm39) |
D16E |
possibly damaging |
Het |
| Cct6b |
G |
T |
11: 82,644,446 (GRCm39) |
|
probably benign |
Het |
| Ccz1 |
A |
G |
5: 143,947,836 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,322,899 (GRCm39) |
N335S |
possibly damaging |
Het |
| Cemip |
T |
A |
7: 83,647,718 (GRCm39) |
S121C |
possibly damaging |
Het |
| Cers1 |
A |
G |
8: 70,783,838 (GRCm39) |
E262G |
probably damaging |
Het |
| Clec11a |
G |
T |
7: 43,955,874 (GRCm39) |
P58T |
possibly damaging |
Het |
| Clec16a |
T |
C |
16: 10,509,419 (GRCm39) |
I797T |
probably damaging |
Het |
| Col4a1 |
A |
C |
8: 11,292,829 (GRCm39) |
|
probably benign |
Het |
| Colgalt2 |
G |
A |
1: 152,360,655 (GRCm39) |
V231I |
probably damaging |
Het |
| D430041D05Rik |
G |
T |
2: 104,038,428 (GRCm39) |
N1580K |
probably damaging |
Het |
| Dcdc5 |
A |
G |
2: 106,181,910 (GRCm39) |
|
noncoding transcript |
Het |
| Ddx17 |
T |
C |
15: 79,414,577 (GRCm39) |
D530G |
probably benign |
Het |
| Dhx9 |
A |
T |
1: 153,341,441 (GRCm39) |
D601E |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,646,853 (GRCm39) |
Y1059H |
probably damaging |
Het |
| Dtx1 |
C |
A |
5: 120,848,569 (GRCm39) |
|
probably benign |
Het |
| Egfr |
A |
G |
11: 16,813,065 (GRCm39) |
S182G |
probably benign |
Het |
| Fads1 |
A |
G |
19: 10,163,116 (GRCm39) |
N131S |
probably benign |
Het |
| Fam243 |
T |
A |
16: 92,117,553 (GRCm39) |
Y245F |
probably damaging |
Het |
| Fancm |
C |
T |
12: 65,165,125 (GRCm39) |
A1490V |
possibly damaging |
Het |
| Fsd2 |
C |
A |
7: 81,209,339 (GRCm39) |
E168* |
probably null |
Het |
| Galnt2l |
T |
C |
8: 123,568,687 (GRCm39) |
|
probably benign |
Het |
| Gm9772 |
A |
T |
17: 22,226,099 (GRCm39) |
C62S |
probably damaging |
Het |
| H60c |
C |
T |
10: 3,210,307 (GRCm39) |
A81T |
possibly damaging |
Het |
| Hira |
T |
G |
16: 18,744,413 (GRCm39) |
S377A |
probably benign |
Het |
| Iffo1 |
T |
C |
6: 125,122,877 (GRCm39) |
S220P |
possibly damaging |
Het |
| Itih4 |
A |
G |
14: 30,614,610 (GRCm39) |
M491V |
probably benign |
Het |
| Khdrbs2 |
T |
C |
1: 32,559,777 (GRCm39) |
R102G |
possibly damaging |
Het |
| Klhdc7a |
T |
G |
4: 139,692,835 (GRCm39) |
Y704S |
possibly damaging |
Het |
| Klk1b21 |
G |
A |
7: 43,754,923 (GRCm39) |
V73I |
probably benign |
Het |
| Krt42 |
G |
A |
11: 100,160,435 (GRCm39) |
A88V |
probably benign |
Het |
| Krt42 |
C |
T |
11: 100,160,436 (GRCm39) |
A88T |
probably benign |
Het |
| Limk1 |
G |
T |
5: 134,686,364 (GRCm39) |
D580E |
probably benign |
Het |
| Lipk |
C |
T |
19: 34,024,185 (GRCm39) |
P323S |
probably damaging |
Het |
| Lipo5 |
T |
A |
19: 33,443,273 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,736,325 (GRCm39) |
D166G |
probably benign |
Het |
| Mapkbp1 |
C |
T |
2: 119,803,626 (GRCm39) |
R32W |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,779,550 (GRCm39) |
|
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,777 (GRCm39) |
M45K |
probably damaging |
Het |
| Mroh7 |
G |
A |
4: 106,552,338 (GRCm39) |
|
probably benign |
Het |
| Mrpl27 |
G |
A |
11: 94,544,659 (GRCm39) |
|
probably benign |
Het |
| Ms4a10 |
T |
A |
19: 10,942,097 (GRCm39) |
T175S |
possibly damaging |
Het |
| Muc17 |
T |
C |
5: 137,166,799 (GRCm39) |
H330R |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,399,028 (GRCm39) |
I2787F |
probably damaging |
Het |
| Ndst1 |
A |
G |
18: 60,846,277 (GRCm39) |
C11R |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,464,300 (GRCm39) |
G1669* |
probably null |
Het |
| Or5p56 |
A |
G |
7: 107,589,605 (GRCm39) |
E11G |
probably benign |
Het |
| Or6c208 |
A |
T |
10: 129,223,652 (GRCm39) |
D50V |
probably damaging |
Het |
| Or7e177 |
T |
C |
9: 20,212,134 (GRCm39) |
Y214H |
probably benign |
Het |
| Pafah2 |
T |
A |
4: 134,131,468 (GRCm39) |
I52N |
probably damaging |
Het |
| Pcsk6 |
A |
T |
7: 65,693,283 (GRCm39) |
I693F |
possibly damaging |
Het |
| Pde4c |
G |
T |
8: 71,199,262 (GRCm39) |
R228L |
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,288,904 (GRCm39) |
N832S |
probably benign |
Het |
| Plbd1 |
T |
A |
6: 136,590,814 (GRCm39) |
M451L |
probably benign |
Het |
| Pramel14 |
G |
T |
4: 143,719,851 (GRCm39) |
D171E |
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,194,965 (GRCm39) |
D260G |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,216,310 (GRCm39) |
S813P |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,520,544 (GRCm39) |
I119V |
probably benign |
Het |
| Sh3pxd2b |
A |
G |
11: 32,365,967 (GRCm39) |
T353A |
probably damaging |
Het |
| Shq1 |
A |
T |
6: 100,646,659 (GRCm39) |
|
probably null |
Het |
| Slc22a28 |
T |
A |
19: 8,049,223 (GRCm39) |
H342L |
possibly damaging |
Het |
| Slco2b1 |
C |
T |
7: 99,314,114 (GRCm39) |
E9K |
probably null |
Het |
| Specc1l |
T |
C |
10: 75,082,118 (GRCm39) |
F505L |
probably damaging |
Het |
| Sptan1 |
G |
T |
2: 29,870,215 (GRCm39) |
|
probably null |
Het |
| St6gal2 |
A |
G |
17: 55,797,932 (GRCm39) |
|
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,479,313 (GRCm39) |
I73V |
probably benign |
Het |
| Tax1bp1 |
C |
T |
6: 52,721,229 (GRCm39) |
T478I |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,744,542 (GRCm39) |
N361K |
probably damaging |
Het |
| Tph1 |
A |
T |
7: 46,296,907 (GRCm39) |
Y429* |
probably null |
Het |
| Tprkb |
A |
T |
6: 85,901,403 (GRCm39) |
R14W |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,753,890 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
T |
C |
7: 67,316,902 (GRCm39) |
|
probably benign |
Het |
| Vmn1r211 |
T |
C |
13: 23,036,415 (GRCm39) |
Y84C |
probably damaging |
Het |
| Vmn2r22 |
C |
G |
6: 123,614,624 (GRCm39) |
G322A |
possibly damaging |
Het |
| Wdr74 |
A |
G |
19: 8,717,776 (GRCm39) |
Q330R |
probably benign |
Het |
| Wdtc1 |
C |
A |
4: 133,024,739 (GRCm39) |
S486I |
possibly damaging |
Het |
| Zbtb24 |
T |
C |
10: 41,340,989 (GRCm39) |
V673A |
possibly damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,965,877 (GRCm39) |
R655S |
probably damaging |
Het |
| Zkscan5 |
A |
G |
5: 145,157,798 (GRCm39) |
N694D |
probably benign |
Het |
|
| Other mutations in Mapk8ip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00578:Mapk8ip3
|
APN |
17 |
25,119,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01018:Mapk8ip3
|
APN |
17 |
25,118,693 (GRCm39) |
splice site |
probably benign |
|
|
IGL01066:Mapk8ip3
|
APN |
17 |
25,120,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01656:Mapk8ip3
|
APN |
17 |
25,137,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01991:Mapk8ip3
|
APN |
17 |
25,146,835 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02014:Mapk8ip3
|
APN |
17 |
25,122,254 (GRCm39) |
splice site |
probably benign |
|
|
IGL02219:Mapk8ip3
|
APN |
17 |
25,118,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03006:Mapk8ip3
|
APN |
17 |
25,120,489 (GRCm39) |
missense |
probably benign |
|
|
ANU74:Mapk8ip3
|
UTSW |
17 |
25,119,551 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
FR4737:Mapk8ip3
|
UTSW |
17 |
25,121,093 (GRCm39) |
splice site |
probably null |
|
|
R0028:Mapk8ip3
|
UTSW |
17 |
25,123,871 (GRCm39) |
splice site |
probably benign |
|
|
R0401:Mapk8ip3
|
UTSW |
17 |
25,128,145 (GRCm39) |
intron |
probably benign |
|
|
R0496:Mapk8ip3
|
UTSW |
17 |
25,133,424 (GRCm39) |
splice site |
probably benign |
|
|
R1503:Mapk8ip3
|
UTSW |
17 |
25,123,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1554:Mapk8ip3
|
UTSW |
17 |
25,122,033 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1680:Mapk8ip3
|
UTSW |
17 |
25,119,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Mapk8ip3
|
UTSW |
17 |
25,155,824 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1741:Mapk8ip3
|
UTSW |
17 |
25,118,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Mapk8ip3
|
UTSW |
17 |
25,133,433 (GRCm39) |
missense |
probably null |
1.00 |
|
R1774:Mapk8ip3
|
UTSW |
17 |
25,143,119 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1845:Mapk8ip3
|
UTSW |
17 |
25,133,557 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1911:Mapk8ip3
|
UTSW |
17 |
25,123,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1993:Mapk8ip3
|
UTSW |
17 |
25,133,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Mapk8ip3
|
UTSW |
17 |
25,133,677 (GRCm39) |
nonsense |
probably null |
|
|
R2656:Mapk8ip3
|
UTSW |
17 |
25,131,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2990:Mapk8ip3
|
UTSW |
17 |
25,124,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4587:Mapk8ip3
|
UTSW |
17 |
25,123,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Mapk8ip3
|
UTSW |
17 |
25,123,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Mapk8ip3
|
UTSW |
17 |
25,122,267 (GRCm39) |
missense |
probably benign |
|
|
R4649:Mapk8ip3
|
UTSW |
17 |
25,123,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Mapk8ip3
|
UTSW |
17 |
25,120,389 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4903:Mapk8ip3
|
UTSW |
17 |
25,120,183 (GRCm39) |
missense |
probably benign |
|
|
R4915:Mapk8ip3
|
UTSW |
17 |
25,128,127 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5447:Mapk8ip3
|
UTSW |
17 |
25,118,163 (GRCm39) |
missense |
probably benign |
|
|
R5642:Mapk8ip3
|
UTSW |
17 |
25,122,285 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6320:Mapk8ip3
|
UTSW |
17 |
25,125,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6900:Mapk8ip3
|
UTSW |
17 |
25,128,097 (GRCm39) |
splice site |
probably null |
|
|
R7178:Mapk8ip3
|
UTSW |
17 |
25,120,728 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7273:Mapk8ip3
|
UTSW |
17 |
25,125,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7317:Mapk8ip3
|
UTSW |
17 |
25,120,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7323:Mapk8ip3
|
UTSW |
17 |
25,120,135 (GRCm39) |
missense |
probably benign |
|
|
R7701:Mapk8ip3
|
UTSW |
17 |
25,120,378 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7873:Mapk8ip3
|
UTSW |
17 |
25,125,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8070:Mapk8ip3
|
UTSW |
17 |
25,120,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8314:Mapk8ip3
|
UTSW |
17 |
25,120,748 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8356:Mapk8ip3
|
UTSW |
17 |
25,123,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8441:Mapk8ip3
|
UTSW |
17 |
25,139,474 (GRCm39) |
intron |
probably benign |
|
|
R8537:Mapk8ip3
|
UTSW |
17 |
25,120,652 (GRCm39) |
nonsense |
probably null |
|
|
R8802:Mapk8ip3
|
UTSW |
17 |
25,124,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8864:Mapk8ip3
|
UTSW |
17 |
25,118,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8918:Mapk8ip3
|
UTSW |
17 |
25,131,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Mapk8ip3
|
UTSW |
17 |
25,146,925 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9599:Mapk8ip3
|
UTSW |
17 |
25,118,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9638:Mapk8ip3
|
UTSW |
17 |
25,118,023 (GRCm39) |
missense |
probably benign |
|
|
R9640:Mapk8ip3
|
UTSW |
17 |
25,155,647 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9723:Mapk8ip3
|
UTSW |
17 |
25,132,585 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0024:Mapk8ip3
|
UTSW |
17 |
25,122,947 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAAGCCCAAGTCTCTGGTGTTC -3'
(R):5'- TGCCCAGGTTAAACAGGTGTTCC -3'
Sequencing Primer
(F):5'- AAGTCTCTGGTGTTCTTACCTC -3'
(R):5'- CTGCAAGGGTgtgtctcagg -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation