Incidental Mutation 'R0063:4930562C15Rik'
| ID |
16345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930562C15Rik
|
| Ensembl Gene |
ENSMUSG00000022518 |
| Gene Name |
RIKEN cDNA 4930562C15 gene |
| Synonyms |
|
| MMRRC Submission |
038355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0063 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4653280-4685550 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 4678912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 245
(R245*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100211]
[ENSMUST00000171105]
[ENSMUST00000176394]
[ENSMUST00000176982]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000100211
AA Change: R908*
|
| SMART Domains |
Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: R908*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
74 |
101 |
N/A |
INTRINSIC |
|
coiled coil region
|
181 |
211 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
289 |
315 |
2.54e-5 |
PROSPERO |
|
internal_repeat_1
|
314 |
341 |
2.54e-5 |
PROSPERO |
|
low complexity region
|
360 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
672 |
N/A |
INTRINSIC |
|
Pfam:DUF4795
|
745 |
960 |
1.7e-46 |
PFAM |
|
low complexity region
|
1095 |
1109 |
N/A |
INTRINSIC |
|
low complexity region
|
1111 |
1125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171105
AA Change: R69*
|
| SMART Domains |
Protein: ENSMUSP00000127814
Gene: ENSMUSG00000022518
AA Change: R69*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4795
|
37 |
125 |
1.1e-20 |
PFAM |
|
low complexity region
|
256 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176394
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176982
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180566
AA Change: R245*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180939
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 89.1%
- 3x: 86.1%
- 10x: 78.0%
- 20x: 64.7%
|
| Validation Efficiency |
99% (86/87) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
A |
14: 60,333,477 (GRCm39) |
|
probably benign |
Het |
| Acss1 |
T |
C |
2: 150,469,212 (GRCm39) |
T435A |
probably damaging |
Het |
| Aoc2 |
T |
A |
11: 101,216,897 (GRCm39) |
S327T |
probably damaging |
Het |
| Arid5a |
T |
A |
1: 36,357,645 (GRCm39) |
Y252N |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,733,465 (GRCm39) |
Y662H |
probably damaging |
Het |
| Bcam |
C |
T |
7: 19,500,773 (GRCm39) |
V134I |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,424,896 (GRCm39) |
T426S |
probably benign |
Het |
| Cap2 |
T |
C |
13: 46,791,508 (GRCm39) |
|
probably benign |
Het |
| Capn8 |
T |
A |
1: 182,429,677 (GRCm39) |
D299E |
probably damaging |
Het |
| Cdipt |
G |
A |
7: 126,578,772 (GRCm39) |
V160I |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,046,137 (GRCm39) |
T60A |
probably benign |
Het |
| Dazl |
T |
C |
17: 152,705,859 (NCBIm37) |
T212A |
probably damaging |
Het |
| Dgkb |
T |
G |
12: 38,654,112 (GRCm39) |
S744A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,647,111 (GRCm39) |
|
probably null |
Het |
| Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,490,709 (GRCm39) |
|
probably benign |
Het |
| Emid1 |
A |
T |
11: 5,139,704 (GRCm38) |
|
probably benign |
Het |
| Eml3 |
C |
A |
19: 8,915,842 (GRCm39) |
A644D |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,921,684 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,857 (GRCm39) |
N75S |
probably damaging |
Het |
| Irs1 |
T |
A |
1: 82,266,580 (GRCm39) |
E545D |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,661,762 (GRCm39) |
|
probably benign |
Het |
| Nat8f2 |
A |
T |
6: 85,844,815 (GRCm39) |
S182R |
possibly damaging |
Het |
| Nrcam |
G |
T |
12: 44,596,811 (GRCm39) |
V343F |
possibly damaging |
Het |
| Pdk2 |
T |
C |
11: 94,923,306 (GRCm39) |
H106R |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,282,174 (GRCm39) |
T2889I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,633 (GRCm39) |
L1656H |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,247 (GRCm39) |
T394S |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,329,615 (GRCm39) |
C56S |
probably damaging |
Het |
| Prdm8 |
G |
T |
5: 98,332,453 (GRCm39) |
R118L |
probably damaging |
Het |
| Prkce |
T |
C |
17: 86,789,539 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,763 (GRCm39) |
Y163N |
probably damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,867,614 (GRCm39) |
|
probably benign |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Slc2a2 |
T |
C |
3: 28,771,589 (GRCm39) |
M173T |
probably damaging |
Het |
| Slc2a8 |
T |
A |
2: 32,870,011 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
| Tmem89 |
A |
G |
9: 108,743,880 (GRCm39) |
N60S |
probably benign |
Het |
| Trio |
G |
T |
15: 27,881,523 (GRCm39) |
|
probably benign |
Het |
| Tulp2 |
T |
C |
7: 45,170,284 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,244,542 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,401,656 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,339,427 (GRCm39) |
D556G |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,851,588 (GRCm39) |
L202P |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,960,398 (GRCm39) |
H203L |
probably damaging |
Het |
|
| Other mutations in 4930562C15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00936:4930562C15Rik
|
APN |
16 |
4,682,510 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01610:4930562C15Rik
|
APN |
16 |
4,669,429 (GRCm39) |
splice site |
probably benign |
|
|
IGL02869:4930562C15Rik
|
APN |
16 |
4,685,323 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03242:4930562C15Rik
|
APN |
16 |
4,667,189 (GRCm39) |
missense |
unknown |
|
|
R0063:4930562C15Rik
|
UTSW |
16 |
4,678,912 (GRCm39) |
nonsense |
probably null |
|
|
R0083:4930562C15Rik
|
UTSW |
16 |
4,667,406 (GRCm39) |
missense |
unknown |
|
|
R0565:4930562C15Rik
|
UTSW |
16 |
4,682,200 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0630:4930562C15Rik
|
UTSW |
16 |
4,668,803 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0734:4930562C15Rik
|
UTSW |
16 |
4,668,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1200:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
|
R1738:4930562C15Rik
|
UTSW |
16 |
4,682,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:4930562C15Rik
|
UTSW |
16 |
4,669,422 (GRCm39) |
splice site |
probably null |
|
|
R1945:4930562C15Rik
|
UTSW |
16 |
4,653,549 (GRCm39) |
missense |
unknown |
|
|
R2132:4930562C15Rik
|
UTSW |
16 |
4,653,835 (GRCm39) |
missense |
unknown |
|
|
R2445:4930562C15Rik
|
UTSW |
16 |
4,682,261 (GRCm39) |
splice site |
probably null |
|
|
R2696:4930562C15Rik
|
UTSW |
16 |
4,668,228 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4729:4930562C15Rik
|
UTSW |
16 |
4,667,187 (GRCm39) |
missense |
unknown |
|
|
R4779:4930562C15Rik
|
UTSW |
16 |
4,667,613 (GRCm39) |
missense |
unknown |
|
|
R4806:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
|
R4808:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
|
R4876:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
|
R4931:4930562C15Rik
|
UTSW |
16 |
4,678,910 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4956:4930562C15Rik
|
UTSW |
16 |
4,672,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5085:4930562C15Rik
|
UTSW |
16 |
4,653,837 (GRCm39) |
nonsense |
probably null |
|
|
R5203:4930562C15Rik
|
UTSW |
16 |
4,653,462 (GRCm39) |
missense |
unknown |
|
|
R5229:4930562C15Rik
|
UTSW |
16 |
4,667,915 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5461:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5462:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:4930562C15Rik
|
UTSW |
16 |
4,682,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6054:4930562C15Rik
|
UTSW |
16 |
4,653,729 (GRCm39) |
missense |
unknown |
|
|
R6405:4930562C15Rik
|
UTSW |
16 |
4,669,742 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6859:4930562C15Rik
|
UTSW |
16 |
4,669,799 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7124:4930562C15Rik
|
UTSW |
16 |
4,682,196 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7139:4930562C15Rik
|
UTSW |
16 |
4,668,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7182:4930562C15Rik
|
UTSW |
16 |
4,667,578 (GRCm39) |
missense |
unknown |
|
|
R7219:4930562C15Rik
|
UTSW |
16 |
4,667,508 (GRCm39) |
missense |
unknown |
|
|
R7366:4930562C15Rik
|
UTSW |
16 |
4,653,633 (GRCm39) |
missense |
unknown |
|
|
R7592:4930562C15Rik
|
UTSW |
16 |
4,667,138 (GRCm39) |
missense |
unknown |
|
|
R7759:4930562C15Rik
|
UTSW |
16 |
4,682,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7789:4930562C15Rik
|
UTSW |
16 |
4,682,175 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7873:4930562C15Rik
|
UTSW |
16 |
4,684,091 (GRCm39) |
missense |
probably benign |
|
|
R7916:4930562C15Rik
|
UTSW |
16 |
4,682,454 (GRCm39) |
nonsense |
probably null |
|
|
R8093:4930562C15Rik
|
UTSW |
16 |
4,669,368 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8169:4930562C15Rik
|
UTSW |
16 |
4,684,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8278:4930562C15Rik
|
UTSW |
16 |
4,668,040 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8372:4930562C15Rik
|
UTSW |
16 |
4,682,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8493:4930562C15Rik
|
UTSW |
16 |
4,653,453 (GRCm39) |
start codon destroyed |
unknown |
|
|
R8549:4930562C15Rik
|
UTSW |
16 |
4,681,061 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8947:4930562C15Rik
|
UTSW |
16 |
4,665,292 (GRCm39) |
missense |
unknown |
|
|
R9137:4930562C15Rik
|
UTSW |
16 |
4,685,312 (GRCm39) |
missense |
probably benign |
|
|
R9339:4930562C15Rik
|
UTSW |
16 |
4,667,521 (GRCm39) |
missense |
unknown |
|
|
R9422:4930562C15Rik
|
UTSW |
16 |
4,667,153 (GRCm39) |
missense |
|
|
|
R9561:4930562C15Rik
|
UTSW |
16 |
4,680,980 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9618:4930562C15Rik
|
UTSW |
16 |
4,667,418 (GRCm39) |
missense |
unknown |
|
|
R9747:4930562C15Rik
|
UTSW |
16 |
4,668,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9773:4930562C15Rik
|
UTSW |
16 |
4,668,057 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0028:4930562C15Rik
|
UTSW |
16 |
4,685,231 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1176:4930562C15Rik
|
UTSW |
16 |
4,684,112 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
| Posted On |
2013-01-20 |
Incidental Mutation