Incidental Mutation 'R2292:4932414N04Rik'
ID |
245018 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4932414N04Rik
|
Ensembl Gene |
ENSMUSG00000079324 |
Gene Name |
RIKEN cDNA 4932414N04 gene |
Synonyms |
|
MMRRC Submission |
040291-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2292 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
68487135-68578876 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 68562483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 370
(I370T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055930]
[ENSMUST00000128259]
|
AlphaFold |
Q8CEQ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055930
AA Change: I370T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000059809 Gene: ENSMUSG00000079324 AA Change: I370T
Domain | Start | End | E-Value | Type |
coiled coil region
|
154 |
241 |
N/A |
INTRINSIC |
Pfam:DUF3496
|
265 |
361 |
8.5e-12 |
PFAM |
internal_repeat_1
|
456 |
597 |
1.76e-26 |
PROSPERO |
internal_repeat_1
|
601 |
737 |
1.76e-26 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128259
AA Change: I370T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000135792 Gene: ENSMUSG00000079324 AA Change: I370T
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
5 |
39 |
6.02e-5 |
PROSPERO |
internal_repeat_1
|
209 |
242 |
6.02e-5 |
PROSPERO |
low complexity region
|
286 |
297 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,650,518 (GRCm39) |
T1209A |
possibly damaging |
Het |
Als2 |
T |
C |
1: 59,226,544 (GRCm39) |
Q920R |
probably damaging |
Het |
Arhgap20 |
T |
A |
9: 51,760,743 (GRCm39) |
Y829N |
possibly damaging |
Het |
Arhgap35 |
A |
T |
7: 16,297,476 (GRCm39) |
F530I |
probably damaging |
Het |
Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
Ascc2 |
T |
C |
11: 4,629,352 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
C |
T |
2: 24,496,632 (GRCm39) |
V2312I |
probably benign |
Het |
Dctn6 |
T |
C |
8: 34,559,679 (GRCm39) |
T159A |
probably benign |
Het |
Ddx55 |
G |
T |
5: 124,706,140 (GRCm39) |
A522S |
probably benign |
Het |
Dnah6 |
G |
A |
6: 72,998,092 (GRCm39) |
T4110I |
probably damaging |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Dym |
A |
G |
18: 75,332,283 (GRCm39) |
T504A |
possibly damaging |
Het |
E130308A19Rik |
T |
C |
4: 59,690,579 (GRCm39) |
Y138H |
probably damaging |
Het |
Fgd4 |
A |
T |
16: 16,253,864 (GRCm39) |
C568S |
possibly damaging |
Het |
Fkbp4 |
A |
C |
6: 128,413,625 (GRCm39) |
V6G |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,127,984 (GRCm39) |
S2299C |
unknown |
Het |
Gdf2 |
A |
T |
14: 33,667,145 (GRCm39) |
N289I |
possibly damaging |
Het |
Gpr182 |
A |
G |
10: 127,586,051 (GRCm39) |
I300T |
possibly damaging |
Het |
Iqcg |
A |
G |
16: 32,870,253 (GRCm39) |
V80A |
probably benign |
Het |
Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
Lyst |
T |
G |
13: 13,915,080 (GRCm39) |
F3258C |
probably damaging |
Het |
Map3k12 |
T |
C |
15: 102,408,574 (GRCm39) |
E870G |
probably damaging |
Het |
Mphosph10 |
G |
A |
7: 64,035,519 (GRCm39) |
P384L |
probably damaging |
Het |
Ncoa4 |
T |
G |
14: 31,895,413 (GRCm39) |
L179R |
probably damaging |
Het |
Nlrp1c-ps |
A |
G |
11: 71,137,188 (GRCm39) |
|
noncoding transcript |
Het |
Nwd2 |
A |
T |
5: 63,962,917 (GRCm39) |
M834L |
probably benign |
Het |
Or10a49 |
A |
T |
7: 108,468,223 (GRCm39) |
M46K |
probably benign |
Het |
Or2w6 |
A |
G |
13: 21,843,001 (GRCm39) |
M164T |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,876,685 (GRCm39) |
E266G |
probably benign |
Het |
Pcdhb2 |
T |
A |
18: 37,430,297 (GRCm39) |
|
probably null |
Het |
Pramel25 |
T |
C |
4: 143,520,446 (GRCm39) |
I66T |
probably benign |
Het |
Prdm13 |
A |
C |
4: 21,683,914 (GRCm39) |
I119S |
unknown |
Het |
Tchh |
A |
G |
3: 93,349,689 (GRCm39) |
Y18C |
probably damaging |
Het |
Tmem192 |
T |
C |
8: 65,411,998 (GRCm39) |
V59A |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,974,916 (GRCm39) |
F92Y |
probably damaging |
Het |
Trappc11 |
C |
T |
8: 47,958,771 (GRCm39) |
G40D |
probably damaging |
Het |
Ttc23 |
A |
T |
7: 67,319,535 (GRCm39) |
I132F |
probably benign |
Het |
Ttc9b |
A |
G |
7: 27,355,405 (GRCm39) |
D225G |
probably benign |
Het |
Ubr3 |
G |
T |
2: 69,727,604 (GRCm39) |
|
probably benign |
Het |
Vmn2r75 |
A |
C |
7: 85,798,144 (GRCm39) |
C556W |
probably damaging |
Het |
Zbtb41 |
T |
C |
1: 139,368,097 (GRCm39) |
V595A |
probably damaging |
Het |
|
Other mutations in 4932414N04Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00160:4932414N04Rik
|
APN |
2 |
68,563,219 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01384:4932414N04Rik
|
APN |
2 |
68,575,749 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02170:4932414N04Rik
|
APN |
2 |
68,561,467 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02650:4932414N04Rik
|
APN |
2 |
68,571,881 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02707:4932414N04Rik
|
APN |
2 |
68,561,474 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02737:4932414N04Rik
|
APN |
2 |
68,566,904 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03351:4932414N04Rik
|
APN |
2 |
68,561,427 (GRCm39) |
missense |
probably benign |
|
R0328:4932414N04Rik
|
UTSW |
2 |
68,574,624 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0362:4932414N04Rik
|
UTSW |
2 |
68,563,261 (GRCm39) |
missense |
probably benign |
0.00 |
R0638:4932414N04Rik
|
UTSW |
2 |
68,547,572 (GRCm39) |
missense |
probably benign |
0.18 |
R1201:4932414N04Rik
|
UTSW |
2 |
68,546,626 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1381:4932414N04Rik
|
UTSW |
2 |
68,561,430 (GRCm39) |
missense |
probably benign |
0.18 |
R1456:4932414N04Rik
|
UTSW |
2 |
68,546,558 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2001:4932414N04Rik
|
UTSW |
2 |
68,571,800 (GRCm39) |
missense |
probably benign |
|
R2051:4932414N04Rik
|
UTSW |
2 |
68,541,392 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2228:4932414N04Rik
|
UTSW |
2 |
68,559,935 (GRCm39) |
missense |
probably benign |
0.00 |
R2357:4932414N04Rik
|
UTSW |
2 |
68,569,844 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2484:4932414N04Rik
|
UTSW |
2 |
68,541,819 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3035:4932414N04Rik
|
UTSW |
2 |
68,575,762 (GRCm39) |
missense |
probably benign |
0.00 |
R3916:4932414N04Rik
|
UTSW |
2 |
68,562,329 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3950:4932414N04Rik
|
UTSW |
2 |
68,494,747 (GRCm39) |
critical splice donor site |
probably null |
|
R3951:4932414N04Rik
|
UTSW |
2 |
68,494,747 (GRCm39) |
critical splice donor site |
probably null |
|
R3952:4932414N04Rik
|
UTSW |
2 |
68,494,747 (GRCm39) |
critical splice donor site |
probably null |
|
R4091:4932414N04Rik
|
UTSW |
2 |
68,575,722 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4118:4932414N04Rik
|
UTSW |
2 |
68,566,857 (GRCm39) |
missense |
probably benign |
|
R4153:4932414N04Rik
|
UTSW |
2 |
68,498,941 (GRCm39) |
intron |
probably benign |
|
R4210:4932414N04Rik
|
UTSW |
2 |
68,490,222 (GRCm39) |
start gained |
probably benign |
|
R4614:4932414N04Rik
|
UTSW |
2 |
68,575,804 (GRCm39) |
missense |
probably benign |
0.01 |
R4818:4932414N04Rik
|
UTSW |
2 |
68,571,810 (GRCm39) |
missense |
probably benign |
|
R5202:4932414N04Rik
|
UTSW |
2 |
68,562,308 (GRCm39) |
missense |
probably benign |
|
R5466:4932414N04Rik
|
UTSW |
2 |
68,541,733 (GRCm39) |
missense |
probably benign |
0.11 |
R5585:4932414N04Rik
|
UTSW |
2 |
68,571,770 (GRCm39) |
missense |
probably benign |
0.00 |
R5602:4932414N04Rik
|
UTSW |
2 |
68,578,712 (GRCm39) |
makesense |
probably null |
|
R5846:4932414N04Rik
|
UTSW |
2 |
68,562,377 (GRCm39) |
missense |
unknown |
|
R5902:4932414N04Rik
|
UTSW |
2 |
68,539,281 (GRCm39) |
start codon destroyed |
probably null |
|
R6002:4932414N04Rik
|
UTSW |
2 |
68,492,768 (GRCm39) |
splice site |
probably null |
|
R6029:4932414N04Rik
|
UTSW |
2 |
68,524,370 (GRCm39) |
splice site |
probably null |
|
R6093:4932414N04Rik
|
UTSW |
2 |
68,490,214 (GRCm39) |
splice site |
probably benign |
|
R6168:4932414N04Rik
|
UTSW |
2 |
68,571,827 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6300:4932414N04Rik
|
UTSW |
2 |
68,561,453 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6322:4932414N04Rik
|
UTSW |
2 |
68,559,843 (GRCm39) |
missense |
probably benign |
0.00 |
R6533:4932414N04Rik
|
UTSW |
2 |
68,546,662 (GRCm39) |
nonsense |
probably null |
|
R6547:4932414N04Rik
|
UTSW |
2 |
68,490,251 (GRCm39) |
utr 5 prime |
probably benign |
|
R7309:4932414N04Rik
|
UTSW |
2 |
68,546,530 (GRCm39) |
missense |
probably benign |
0.29 |
R7400:4932414N04Rik
|
UTSW |
2 |
68,496,547 (GRCm39) |
missense |
unknown |
|
R7454:4932414N04Rik
|
UTSW |
2 |
68,518,648 (GRCm39) |
missense |
unknown |
|
R7481:4932414N04Rik
|
UTSW |
2 |
68,494,575 (GRCm39) |
missense |
unknown |
|
R7498:4932414N04Rik
|
UTSW |
2 |
68,498,012 (GRCm39) |
missense |
unknown |
|
R7523:4932414N04Rik
|
UTSW |
2 |
68,569,673 (GRCm39) |
missense |
probably benign |
0.01 |
R7523:4932414N04Rik
|
UTSW |
2 |
68,492,824 (GRCm39) |
missense |
unknown |
|
R7583:4932414N04Rik
|
UTSW |
2 |
68,569,670 (GRCm39) |
missense |
probably damaging |
0.98 |
R7701:4932414N04Rik
|
UTSW |
2 |
68,561,548 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7746:4932414N04Rik
|
UTSW |
2 |
68,559,339 (GRCm39) |
missense |
probably benign |
0.33 |
R7778:4932414N04Rik
|
UTSW |
2 |
68,569,855 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7985:4932414N04Rik
|
UTSW |
2 |
68,494,693 (GRCm39) |
missense |
unknown |
|
R8525:4932414N04Rik
|
UTSW |
2 |
68,559,378 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8765:4932414N04Rik
|
UTSW |
2 |
68,566,956 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8906:4932414N04Rik
|
UTSW |
2 |
68,562,498 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9406:4932414N04Rik
|
UTSW |
2 |
68,498,019 (GRCm39) |
missense |
unknown |
|
R9627:4932414N04Rik
|
UTSW |
2 |
68,487,834 (GRCm39) |
unclassified |
probably benign |
|
X0025:4932414N04Rik
|
UTSW |
2 |
68,559,360 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTCATGTCCCAGTTTGCC -3'
(R):5'- GTGCCTTTTCAACACTTCAGAAACTC -3'
Sequencing Primer
(F):5'- AGTTTGCCATGCTGACTCAG -3'
(R):5'- CTTTTGAAAGAGATAAGGGGCTTCCC -3'
|
Posted On |
2014-10-30 |