Incidental Mutation 'R3906:Ninl'
| ID |
309171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ninl
|
| Ensembl Gene |
ENSMUSG00000068115 |
| Gene Name |
ninein-like |
| Synonyms |
LOC381387, LOC381388, 4930519N13Rik |
| MMRRC Submission |
040813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3906 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
150934519-151039382 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150980119 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 21
(D21G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109896]
[ENSMUST00000128627]
|
| AlphaFold |
Q6ZQ12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109896
AA Change: D21G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: D21G
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
12 |
40 |
6.56e0 |
SMART |
|
low complexity region
|
76 |
93 |
N/A |
INTRINSIC |
|
EFh
|
201 |
229 |
4.45e1 |
SMART |
|
EFh
|
238 |
266 |
8.98e-4 |
SMART |
|
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
coiled coil region
|
381 |
423 |
N/A |
INTRINSIC |
|
coiled coil region
|
461 |
517 |
N/A |
INTRINSIC |
|
coiled coil region
|
541 |
584 |
N/A |
INTRINSIC |
|
coiled coil region
|
620 |
699 |
N/A |
INTRINSIC |
|
coiled coil region
|
728 |
751 |
N/A |
INTRINSIC |
|
coiled coil region
|
835 |
863 |
N/A |
INTRINSIC |
|
coiled coil region
|
1058 |
1334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128564
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128627
AA Change: D21G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121872
Gene: ENSMUSG00000068115
AA Change: D21G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1c07a_
|
3 |
76 |
3e-7 |
SMART |
|
PDB:2PMY|B
|
10 |
75 |
1e-6 |
PDB |
|
Blast:EFh
|
12 |
40 |
4e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149979
|
| Meta Mutation Damage Score |
0.8295 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit bone-marrow myeloid hyperplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,067,151 (GRCm38) |
V1352A |
possibly damaging |
Het |
| Abcb7 |
G |
T |
X: 104,284,159 (GRCm38) |
Q715K |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 89,861,355 (GRCm38) |
G150C |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 127,016,898 (GRCm38) |
L513P |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,716,292 (GRCm38) |
V34L |
probably benign |
Het |
| Cd1d1 |
A |
G |
3: 86,998,756 (GRCm38) |
W71R |
probably damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,053,428 (GRCm38) |
F397L |
probably damaging |
Het |
| Ces2a |
A |
G |
8: 104,739,308 (GRCm38) |
I325V |
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,038,771 (GRCm38) |
V140M |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,001,082 (GRCm38) |
|
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,684,281 (GRCm38) |
D440G |
probably benign |
Het |
| Dsg3 |
G |
A |
18: 20,538,499 (GRCm38) |
G754R |
probably damaging |
Het |
| Endod1 |
T |
A |
9: 14,380,855 (GRCm38) |
Y39F |
probably benign |
Het |
| F11 |
A |
G |
8: 45,248,638 (GRCm38) |
S353P |
probably damaging |
Het |
| Fn1 |
C |
T |
1: 71,607,913 (GRCm38) |
G1482R |
probably damaging |
Het |
| Fpr2 |
A |
G |
17: 17,893,549 (GRCm38) |
K269R |
probably benign |
Het |
| Frk |
T |
G |
10: 34,584,056 (GRCm38) |
L216V |
probably benign |
Het |
| Gan |
G |
A |
8: 117,194,134 (GRCm38) |
V370M |
probably damaging |
Het |
| Grik1 |
A |
G |
16: 88,006,449 (GRCm38) |
I285T |
probably benign |
Het |
| Hspa1a |
C |
T |
17: 34,971,727 (GRCm38) |
V67M |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,126,584 (GRCm38) |
Y405N |
probably damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,485,745 (GRCm38) |
H11Q |
probably benign |
Het |
| Kif26a |
T |
A |
12: 112,176,890 (GRCm38) |
S1193T |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,501,626 (GRCm38) |
N1396D |
probably benign |
Het |
| Lasp1 |
G |
A |
11: 97,799,827 (GRCm38) |
V12M |
probably damaging |
Het |
| Lrrk1 |
G |
T |
7: 66,294,903 (GRCm38) |
T653K |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 24,827,948 (GRCm38) |
Y182C |
probably benign |
Het |
| Myh6 |
T |
C |
14: 54,956,955 (GRCm38) |
D739G |
probably benign |
Het |
| Olfr1504 |
C |
T |
19: 13,887,706 (GRCm38) |
C168Y |
probably damaging |
Het |
| Olfr743 |
C |
T |
14: 50,533,754 (GRCm38) |
T114I |
probably benign |
Het |
| Pacsin2 |
A |
C |
15: 83,379,055 (GRCm38) |
V125G |
probably damaging |
Het |
| Pfas |
G |
A |
11: 68,988,286 (GRCm38) |
|
probably benign |
Het |
| Pla2g4f |
C |
T |
2: 120,300,499 (GRCm38) |
R825Q |
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,388,426 (GRCm38) |
V506E |
possibly damaging |
Het |
| Psmd2 |
A |
G |
16: 20,655,642 (GRCm38) |
D316G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,738,209 (GRCm38) |
D1742V |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,378,269 (GRCm38) |
|
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,914,982 (GRCm38) |
T160A |
possibly damaging |
Het |
| Xrcc6 |
A |
G |
15: 82,029,571 (GRCm38) |
T378A |
probably benign |
Het |
|
| Other mutations in Ninl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Ninl
|
APN |
2 |
150,966,241 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01697:Ninl
|
APN |
2 |
150,939,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01756:Ninl
|
APN |
2 |
150,979,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01925:Ninl
|
APN |
2 |
150,971,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02341:Ninl
|
APN |
2 |
150,944,605 (GRCm38) |
nonsense |
probably null |
|
|
IGL02838:Ninl
|
APN |
2 |
150,955,711 (GRCm38) |
splice site |
probably null |
|
|
IGL02868:Ninl
|
APN |
2 |
150,937,054 (GRCm38) |
missense |
probably benign |
|
|
IGL03116:Ninl
|
APN |
2 |
150,964,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03396:Ninl
|
APN |
2 |
150,966,212 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0117:Ninl
|
UTSW |
2 |
150,937,673 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0685:Ninl
|
UTSW |
2 |
150,939,855 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0928:Ninl
|
UTSW |
2 |
150,963,475 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1051:Ninl
|
UTSW |
2 |
150,970,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1441:Ninl
|
UTSW |
2 |
150,971,124 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1493:Ninl
|
UTSW |
2 |
150,980,095 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1499:Ninl
|
UTSW |
2 |
150,980,176 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1539:Ninl
|
UTSW |
2 |
150,975,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1658:Ninl
|
UTSW |
2 |
150,964,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2038:Ninl
|
UTSW |
2 |
150,975,843 (GRCm38) |
nonsense |
probably null |
|
|
R2156:Ninl
|
UTSW |
2 |
150,944,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2232:Ninl
|
UTSW |
2 |
150,950,050 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2373:Ninl
|
UTSW |
2 |
150,980,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3743:Ninl
|
UTSW |
2 |
150,950,248 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3950:Ninl
|
UTSW |
2 |
150,952,488 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4283:Ninl
|
UTSW |
2 |
150,953,416 (GRCm38) |
unclassified |
probably benign |
|
|
R4798:Ninl
|
UTSW |
2 |
150,959,881 (GRCm38) |
nonsense |
probably null |
|
|
R4963:Ninl
|
UTSW |
2 |
150,939,909 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4998:Ninl
|
UTSW |
2 |
150,953,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5343:Ninl
|
UTSW |
2 |
150,971,190 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5810:Ninl
|
UTSW |
2 |
150,950,168 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5825:Ninl
|
UTSW |
2 |
150,940,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6436:Ninl
|
UTSW |
2 |
150,966,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6728:Ninl
|
UTSW |
2 |
150,975,857 (GRCm38) |
nonsense |
probably null |
|
|
R6734:Ninl
|
UTSW |
2 |
150,945,083 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6997:Ninl
|
UTSW |
2 |
150,966,225 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7135:Ninl
|
UTSW |
2 |
150,955,604 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7157:Ninl
|
UTSW |
2 |
150,949,343 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7315:Ninl
|
UTSW |
2 |
150,950,050 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7840:Ninl
|
UTSW |
2 |
150,966,096 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8134:Ninl
|
UTSW |
2 |
150,950,314 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8319:Ninl
|
UTSW |
2 |
150,959,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8802:Ninl
|
UTSW |
2 |
150,935,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8997:Ninl
|
UTSW |
2 |
150,959,896 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9231:Ninl
|
UTSW |
2 |
150,950,209 (GRCm38) |
missense |
probably benign |
|
|
R9465:Ninl
|
UTSW |
2 |
150,940,806 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9474:Ninl
|
UTSW |
2 |
150,940,806 (GRCm38) |
missense |
probably benign |
0.27 |
|
R9571:Ninl
|
UTSW |
2 |
150,949,883 (GRCm38) |
missense |
probably benign |
|
|
R9789:Ninl
|
UTSW |
2 |
150,949,781 (GRCm38) |
missense |
probably benign |
0.05 |
|
X0062:Ninl
|
UTSW |
2 |
150,970,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Ninl
|
UTSW |
2 |
150,953,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTTCTCCTCCCCAAGTG -3'
(R):5'- CCAGTGCTAGCTCTGTGATC -3'
Sequencing Primer
(F):5'- TGCTGTGGACCAAATGCC -3'
(R):5'- GCTAGCTCTGTGATCTGCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation