Incidental Mutation 'R0026:4931408C20Rik'
| ID |
64486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4931408C20Rik
|
| Ensembl Gene |
ENSMUSG00000073722 |
| Gene Name |
RIKEN cDNA 4931408C20 gene |
| Synonyms |
|
| MMRRC Submission |
038321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0026 (G1)
|
| Quality Score |
151 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
26681814-26687460 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26683369 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 910
(D910V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
| AlphaFold |
E9PWP9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097801
AA Change: D910V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: D910V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
128 |
474 |
4.6e-28 |
PFAM |
|
internal_repeat_1
|
939 |
1112 |
4.27e-16 |
PROSPERO |
|
internal_repeat_1
|
1204 |
1376 |
4.27e-16 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
93% (70/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 138,066,805 (GRCm38) |
I585N |
possibly damaging |
Het |
| A830005F24Rik |
C |
T |
13: 48,514,372 (GRCm38) |
|
probably benign |
Het |
| Abca16 |
C |
T |
7: 120,477,923 (GRCm38) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,666,236 (GRCm38) |
L140F |
probably benign |
Het |
| Adam19 |
G |
T |
11: 46,136,259 (GRCm38) |
C573F |
probably damaging |
Het |
| Aff3 |
A |
G |
1: 38,203,893 (GRCm38) |
S948P |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,838,401 (GRCm38) |
Y300N |
probably benign |
Het |
| BC016579 |
T |
C |
16: 45,640,367 (GRCm38) |
T113A |
probably benign |
Het |
| Bmpr1b |
A |
G |
3: 141,870,733 (GRCm38) |
L113P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,219,400 (GRCm38) |
|
probably benign |
Het |
| Cdc16 |
T |
A |
8: 13,759,130 (GRCm38) |
|
probably null |
Het |
| Cep135 |
C |
T |
5: 76,606,734 (GRCm38) |
R353* |
probably null |
Het |
| Cma1 |
A |
T |
14: 55,942,164 (GRCm38) |
C188S |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 126,031,884 (GRCm38) |
T151A |
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,647,521 (GRCm38) |
G56D |
possibly damaging |
Het |
| Dbn1 |
T |
C |
13: 55,477,784 (GRCm38) |
E275G |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,727,363 (GRCm38) |
Q203* |
probably null |
Het |
| Ephb3 |
A |
G |
16: 21,214,917 (GRCm38) |
D251G |
probably damaging |
Het |
| Fancd2os |
G |
T |
6: 113,597,691 (GRCm38) |
T118N |
probably damaging |
Het |
| Gm10801 |
T |
C |
2: 98,663,909 (GRCm38) |
|
probably benign |
Het |
| Got1l1 |
C |
T |
8: 27,200,248 (GRCm38) |
V132I |
probably benign |
Het |
| H2-M9 |
T |
C |
17: 36,641,527 (GRCm38) |
|
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,690,303 (GRCm38) |
V1278A |
probably benign |
Het |
| Kctd3 |
T |
C |
1: 188,976,621 (GRCm38) |
T519A |
probably damaging |
Het |
| Lgsn |
T |
A |
1: 31,203,443 (GRCm38) |
V202D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,175,708 (GRCm38) |
F381L |
possibly damaging |
Het |
| Map1s |
G |
A |
8: 70,914,638 (GRCm38) |
G729D |
probably damaging |
Het |
| Mlycd |
A |
G |
8: 119,410,435 (GRCm38) |
I465V |
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,447,204 (GRCm38) |
R108G |
possibly damaging |
Het |
| Mrgprx2 |
T |
A |
7: 48,482,023 (GRCm38) |
H106L |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,438,429 (GRCm38) |
Y6C |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,591,573 (GRCm38) |
D773G |
probably damaging |
Het |
| Nxnl1 |
A |
G |
8: 71,566,573 (GRCm38) |
S3P |
probably damaging |
Het |
| Olfr109 |
T |
A |
17: 37,466,803 (GRCm38) |
V199D |
probably damaging |
Het |
| Olfr921 |
G |
A |
9: 38,775,596 (GRCm38) |
V114I |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,735,801 (GRCm38) |
F338L |
probably benign |
Het |
| Pdcl3 |
T |
A |
1: 38,991,280 (GRCm38) |
L14Q |
probably damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,594,930 (GRCm38) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,639,668 (GRCm38) |
N413K |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,689,161 (GRCm38) |
S307P |
probably benign |
Het |
| Relt |
C |
A |
7: 100,850,221 (GRCm38) |
E164* |
probably null |
Het |
| Rnf185 |
T |
C |
11: 3,426,617 (GRCm38) |
D86G |
probably damaging |
Het |
| Rrm2b |
T |
C |
15: 37,953,741 (GRCm38) |
E21G |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,522,566 (GRCm38) |
I783T |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 98,076,668 (GRCm38) |
R88G |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,546,468 (GRCm38) |
|
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,390,642 (GRCm38) |
S294P |
probably benign |
Het |
| Slc5a2 |
T |
A |
7: 128,270,053 (GRCm38) |
I335N |
probably damaging |
Het |
| Sstr1 |
T |
A |
12: 58,212,858 (GRCm38) |
M89K |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,384,772 (GRCm38) |
S1612R |
possibly damaging |
Het |
| Taf1c |
T |
C |
8: 119,604,236 (GRCm38) |
|
probably null |
Het |
| Taf1d |
T |
A |
9: 15,308,648 (GRCm38) |
S64R |
probably damaging |
Het |
| Tmem125 |
A |
G |
4: 118,542,073 (GRCm38) |
S54P |
possibly damaging |
Het |
| Ttf1 |
T |
A |
2: 29,071,349 (GRCm38) |
I583N |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,235,371 (GRCm38) |
|
probably null |
Het |
| Unc5b |
A |
T |
10: 60,774,592 (GRCm38) |
I482N |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,521,584 (GRCm38) |
Q824K |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,726,196 (GRCm38) |
|
probably benign |
Het |
| Vmn2r61 |
T |
G |
7: 42,275,474 (GRCm38) |
I484R |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,923,301 (GRCm38) |
I3774T |
possibly damaging |
Het |
| Yipf1 |
T |
A |
4: 107,345,160 (GRCm38) |
L240* |
probably null |
Het |
|
| Other mutations in 4931408C20Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:4931408C20Rik
|
APN |
1 |
26,684,977 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00575:4931408C20Rik
|
APN |
1 |
26,682,932 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL00656:4931408C20Rik
|
APN |
1 |
26,682,901 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL00671:4931408C20Rik
|
APN |
1 |
26,684,859 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL00777:4931408C20Rik
|
APN |
1 |
26,682,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00824:4931408C20Rik
|
APN |
1 |
26,683,589 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL01018:4931408C20Rik
|
APN |
1 |
26,682,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01148:4931408C20Rik
|
APN |
1 |
26,685,172 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL01631:4931408C20Rik
|
APN |
1 |
26,685,414 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01901:4931408C20Rik
|
APN |
1 |
26,682,584 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL01957:4931408C20Rik
|
APN |
1 |
26,685,259 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02031:4931408C20Rik
|
APN |
1 |
26,685,023 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02596:4931408C20Rik
|
APN |
1 |
26,684,002 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4486001:4931408C20Rik
|
UTSW |
1 |
26,685,329 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0026:4931408C20Rik
|
UTSW |
1 |
26,683,369 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0043:4931408C20Rik
|
UTSW |
1 |
26,683,802 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R0141:4931408C20Rik
|
UTSW |
1 |
26,683,782 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0145:4931408C20Rik
|
UTSW |
1 |
26,687,332 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0158:4931408C20Rik
|
UTSW |
1 |
26,683,951 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0325:4931408C20Rik
|
UTSW |
1 |
26,685,266 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0627:4931408C20Rik
|
UTSW |
1 |
26,685,889 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0733:4931408C20Rik
|
UTSW |
1 |
26,682,932 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R1033:4931408C20Rik
|
UTSW |
1 |
26,682,385 (GRCm38) |
missense |
probably benign |
|
|
R1074:4931408C20Rik
|
UTSW |
1 |
26,683,226 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1108:4931408C20Rik
|
UTSW |
1 |
26,682,466 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1139:4931408C20Rik
|
UTSW |
1 |
26,682,665 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1326:4931408C20Rik
|
UTSW |
1 |
26,683,930 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1398:4931408C20Rik
|
UTSW |
1 |
26,685,341 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1422:4931408C20Rik
|
UTSW |
1 |
26,682,466 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1463:4931408C20Rik
|
UTSW |
1 |
26,682,141 (GRCm38) |
nonsense |
probably null |
|
|
R1485:4931408C20Rik
|
UTSW |
1 |
26,685,880 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1568:4931408C20Rik
|
UTSW |
1 |
26,685,869 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1603:4931408C20Rik
|
UTSW |
1 |
26,685,569 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1605:4931408C20Rik
|
UTSW |
1 |
26,684,430 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1795:4931408C20Rik
|
UTSW |
1 |
26,682,989 (GRCm38) |
nonsense |
probably null |
|
|
R1945:4931408C20Rik
|
UTSW |
1 |
26,682,314 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1967:4931408C20Rik
|
UTSW |
1 |
26,683,373 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2055:4931408C20Rik
|
UTSW |
1 |
26,685,732 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2093:4931408C20Rik
|
UTSW |
1 |
26,682,141 (GRCm38) |
nonsense |
probably null |
|
|
R2131:4931408C20Rik
|
UTSW |
1 |
26,685,854 (GRCm38) |
missense |
probably benign |
0.11 |
|
R2237:4931408C20Rik
|
UTSW |
1 |
26,685,160 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2314:4931408C20Rik
|
UTSW |
1 |
26,684,702 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2407:4931408C20Rik
|
UTSW |
1 |
26,682,838 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2993:4931408C20Rik
|
UTSW |
1 |
26,685,828 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4245:4931408C20Rik
|
UTSW |
1 |
26,682,080 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4567:4931408C20Rik
|
UTSW |
1 |
26,683,117 (GRCm38) |
missense |
probably benign |
|
|
R4605:4931408C20Rik
|
UTSW |
1 |
26,683,186 (GRCm38) |
missense |
probably benign |
0.45 |
|
R4708:4931408C20Rik
|
UTSW |
1 |
26,684,440 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4827:4931408C20Rik
|
UTSW |
1 |
26,685,842 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4839:4931408C20Rik
|
UTSW |
1 |
26,685,359 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4888:4931408C20Rik
|
UTSW |
1 |
26,683,547 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5075:4931408C20Rik
|
UTSW |
1 |
26,683,052 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5101:4931408C20Rik
|
UTSW |
1 |
26,683,336 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5231:4931408C20Rik
|
UTSW |
1 |
26,683,951 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5310:4931408C20Rik
|
UTSW |
1 |
26,685,088 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5459:4931408C20Rik
|
UTSW |
1 |
26,685,191 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5520:4931408C20Rik
|
UTSW |
1 |
26,685,819 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5608:4931408C20Rik
|
UTSW |
1 |
26,683,048 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5960:4931408C20Rik
|
UTSW |
1 |
26,683,144 (GRCm38) |
missense |
probably benign |
0.34 |
|
R6128:4931408C20Rik
|
UTSW |
1 |
26,685,425 (GRCm38) |
missense |
probably benign |
0.38 |
|
R6188:4931408C20Rik
|
UTSW |
1 |
26,685,703 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6319:4931408C20Rik
|
UTSW |
1 |
26,685,401 (GRCm38) |
missense |
probably benign |
0.38 |
|
R6339:4931408C20Rik
|
UTSW |
1 |
26,682,505 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6431:4931408C20Rik
|
UTSW |
1 |
26,684,030 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6456:4931408C20Rik
|
UTSW |
1 |
26,685,169 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6562:4931408C20Rik
|
UTSW |
1 |
26,682,362 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6645:4931408C20Rik
|
UTSW |
1 |
26,683,117 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6647:4931408C20Rik
|
UTSW |
1 |
26,682,578 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6919:4931408C20Rik
|
UTSW |
1 |
26,682,934 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7085:4931408C20Rik
|
UTSW |
1 |
26,683,465 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7183:4931408C20Rik
|
UTSW |
1 |
26,682,833 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7347:4931408C20Rik
|
UTSW |
1 |
26,684,467 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7488:4931408C20Rik
|
UTSW |
1 |
26,683,958 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7565:4931408C20Rik
|
UTSW |
1 |
26,685,270 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7726:4931408C20Rik
|
UTSW |
1 |
26,684,498 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8258:4931408C20Rik
|
UTSW |
1 |
26,682,481 (GRCm38) |
missense |
probably benign |
0.28 |
|
R8259:4931408C20Rik
|
UTSW |
1 |
26,682,481 (GRCm38) |
missense |
probably benign |
0.28 |
|
R8701:4931408C20Rik
|
UTSW |
1 |
26,685,445 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8905:4931408C20Rik
|
UTSW |
1 |
26,682,814 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9137:4931408C20Rik
|
UTSW |
1 |
26,685,634 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9138:4931408C20Rik
|
UTSW |
1 |
26,682,172 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9170:4931408C20Rik
|
UTSW |
1 |
26,684,404 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9287:4931408C20Rik
|
UTSW |
1 |
26,683,345 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R9331:4931408C20Rik
|
UTSW |
1 |
26,683,709 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9535:4931408C20Rik
|
UTSW |
1 |
26,682,151 (GRCm38) |
nonsense |
probably null |
|
|
R9719:4931408C20Rik
|
UTSW |
1 |
26,683,739 (GRCm38) |
missense |
probably benign |
0.02 |
|
X0025:4931408C20Rik
|
UTSW |
1 |
26,682,505 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0061:4931408C20Rik
|
UTSW |
1 |
26,682,569 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCTGACTGTGCTTTGACTCCG -3'
(R):5'- TTTCCTCCCCTTGAAGTGAGGACC -3'
Sequencing Primer
(F):5'- TGACTCCGATTCCACTGAATGAG -3'
(R):5'- GAGAGTAAGTCCTTCTATCCCGAG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation