Incidental Mutation 'R7200:1700086D15Rik'
| ID |
560245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1700086D15Rik
|
| Ensembl Gene |
ENSMUSG00000020548 |
| Gene Name |
RIKEN cDNA 1700086D15 gene |
| Synonyms |
|
| MMRRC Submission |
045278-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R7200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
65042736-65050717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65043836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 75
(M75T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020855]
[ENSMUST00000047463]
[ENSMUST00000093001]
[ENSMUST00000093002]
[ENSMUST00000108696]
|
| AlphaFold |
Q9D9E9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000020855
AA Change: M75T
|
| SMART Domains |
Protein: ENSMUSP00000020855
Gene: ENSMUSG00000020548
AA Change: M75T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047463
|
| SMART Domains |
Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
1 |
242 |
2.27e-71 |
SMART |
|
RhoGAP
|
266 |
442 |
1.07e-66 |
SMART |
|
low complexity region
|
530 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
561 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
631 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
746 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093001
|
| SMART Domains |
Protein: ENSMUSP00000090680
Gene: ENSMUSG00000033389
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
5 |
210 |
8.8e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093002
|
| SMART Domains |
Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
1 |
242 |
2.27e-71 |
SMART |
|
RhoGAP
|
266 |
442 |
1.07e-66 |
SMART |
|
low complexity region
|
536 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
695 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
713 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
752 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000108696
AA Change: M75T
|
| SMART Domains |
Protein: ENSMUSP00000104336
Gene: ENSMUSG00000020548
AA Change: M75T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
115 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
G |
12: 71,187,680 (GRCm39) |
N105K |
probably damaging |
Het |
| Acvr1c |
A |
T |
2: 58,205,867 (GRCm39) |
V31E |
probably damaging |
Het |
| Adra1d |
T |
A |
2: 131,403,170 (GRCm39) |
T307S |
probably benign |
Het |
| Akr1c14 |
T |
C |
13: 4,131,051 (GRCm39) |
Y248H |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,580,406 (GRCm39) |
T84A |
probably benign |
Het |
| Asb3 |
C |
A |
11: 30,948,348 (GRCm39) |
S8* |
probably null |
Het |
| AU041133 |
G |
A |
10: 81,986,935 (GRCm39) |
G196D |
possibly damaging |
Het |
| B4galt7 |
T |
C |
13: 55,756,155 (GRCm39) |
C214R |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,254,921 (GRCm39) |
S140P |
possibly damaging |
Het |
| Ciz1 |
T |
C |
2: 32,254,299 (GRCm39) |
L80P |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,949,448 (GRCm39) |
P729L |
possibly damaging |
Het |
| Cr2 |
A |
G |
1: 194,845,557 (GRCm39) |
C133R |
probably damaging |
Het |
| Dmgdh |
T |
C |
13: 93,828,393 (GRCm39) |
L178P |
probably damaging |
Het |
| Dock5 |
C |
A |
14: 68,009,151 (GRCm39) |
E1448* |
probably null |
Het |
| Elavl1 |
A |
G |
8: 4,361,767 (GRCm39) |
S2P |
probably benign |
Het |
| Flywch1 |
T |
C |
17: 23,980,033 (GRCm39) |
H247R |
possibly damaging |
Het |
| Gabpb1 |
A |
T |
2: 126,481,222 (GRCm39) |
I309N |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,066,165 (GRCm39) |
F298L |
possibly damaging |
Het |
| Gpc6 |
G |
A |
14: 118,202,268 (GRCm39) |
V493I |
probably benign |
Het |
| H2-T13 |
A |
T |
17: 36,391,938 (GRCm39) |
I45N |
possibly damaging |
Het |
| Hadha |
C |
T |
5: 30,350,315 (GRCm39) |
E78K |
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
G |
T |
2: 101,943,903 (GRCm39) |
F56L |
probably damaging |
Het |
| Ldlrad3 |
A |
G |
2: 101,943,905 (GRCm39) |
F56L |
probably damaging |
Het |
| Mapk4 |
A |
T |
18: 74,063,990 (GRCm39) |
S411T |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,492,019 (GRCm39) |
M382T |
|
Het |
| Muc21 |
TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT |
TCCTGAGGCAGTGCTGGAT |
17: 35,933,525 (GRCm39) |
|
probably benign |
Het |
| Or2t6 |
A |
T |
14: 14,175,477 (GRCm38) |
C202S |
probably damaging |
Het |
| Or5b104 |
T |
C |
19: 13,072,596 (GRCm39) |
T139A |
probably benign |
Het |
| Pacs1 |
A |
C |
19: 5,206,441 (GRCm39) |
I248S |
possibly damaging |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,906,810 (GRCm39) |
S631P |
|
Het |
| Rars2 |
A |
T |
4: 34,645,747 (GRCm39) |
K221N |
probably benign |
Het |
| Retsat |
T |
C |
6: 72,583,002 (GRCm39) |
S388P |
possibly damaging |
Het |
| Rft1 |
G |
A |
14: 30,404,814 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
A |
G |
1: 153,660,945 (GRCm39) |
V345A |
probably benign |
Het |
| Rnf38 |
A |
T |
4: 44,137,620 (GRCm39) |
S320R |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,301,451 (GRCm39) |
Y722F |
probably benign |
Het |
| Slc13a4 |
T |
C |
6: 35,264,285 (GRCm39) |
E194G |
possibly damaging |
Het |
| Spata17 |
G |
A |
1: 186,844,700 (GRCm39) |
R300C |
probably benign |
Het |
| Tacc1 |
G |
A |
8: 25,731,656 (GRCm39) |
|
probably benign |
Het |
| Tc2n |
T |
G |
12: 101,655,314 (GRCm39) |
I214L |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,192,953 (GRCm39) |
S494G |
probably benign |
Het |
| Tmco5b |
A |
T |
2: 113,121,722 (GRCm39) |
I179L |
probably damaging |
Het |
| Triobp |
AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA |
AGGGACAA |
15: 78,851,042 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,130,412 (GRCm39) |
T173A |
probably damaging |
Het |
| Vmn2r56 |
C |
T |
7: 12,444,259 (GRCm39) |
G458R |
probably damaging |
Het |
| Vmn2r81 |
T |
G |
10: 79,106,570 (GRCm39) |
|
probably null |
Het |
| Wfdc15b |
T |
A |
2: 164,057,037 (GRCm39) |
E80D |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,812,376 (GRCm39) |
D423E |
probably benign |
Het |
| Zfp775 |
T |
A |
6: 48,597,415 (GRCm39) |
C430S |
possibly damaging |
Het |
|
| Other mutations in 1700086D15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03410:1700086D15Rik
|
APN |
11 |
65,043,393 (GRCm39) |
intron |
probably benign |
|
|
R4824:1700086D15Rik
|
UTSW |
11 |
65,043,441 (GRCm39) |
intron |
probably benign |
|
|
R5381:1700086D15Rik
|
UTSW |
11 |
65,044,137 (GRCm39) |
nonsense |
probably null |
|
|
R5765:1700086D15Rik
|
UTSW |
11 |
65,044,066 (GRCm39) |
intron |
probably benign |
|
|
R6919:1700086D15Rik
|
UTSW |
11 |
65,043,356 (GRCm39) |
intron |
probably benign |
|
|
R7526:1700086D15Rik
|
UTSW |
11 |
65,043,807 (GRCm39) |
missense |
unknown |
|
|
Z1186:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
|
Z1186:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
|
Z1186:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
|
Z1186:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
|
Z1186:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
|
Z1187:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
|
Z1187:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
|
Z1187:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
|
Z1187:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
|
Z1187:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
|
Z1188:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
|
Z1188:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
|
Z1188:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
|
Z1188:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
|
Z1188:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
|
Z1189:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
|
Z1189:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
|
Z1189:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
|
Z1189:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
|
Z1189:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
|
Z1190:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
|
Z1190:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
|
Z1190:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
|
Z1190:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
|
Z1190:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
|
Z1191:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
|
Z1191:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
|
Z1191:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
|
Z1191:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
|
Z1191:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
|
Z1192:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
|
Z1192:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
|
Z1192:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
|
Z1192:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
|
Z1192:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGCAAAGAAATGGTACC -3'
(R):5'- CAGGCCATTCTGGATTCCAC -3'
Sequencing Primer
(F):5'- CTGCAAAGAAATGGTACCAGGGC -3'
(R):5'- CCATTTGTCTCTGAGGTGGAAGAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation