Incidental Mutation 'R8983:4930430A15Rik'
| ID |
683808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930430A15Rik
|
| Ensembl Gene |
ENSMUSG00000027157 |
| Gene Name |
RIKEN cDNA 4930430A15 gene |
| Synonyms |
|
| MMRRC Submission |
068816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
111162061-111229602 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111200356 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 403
(S403P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000142636]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028577
AA Change: S403P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: S403P
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
78 |
107 |
1.61e-4 |
SMART |
|
ANK
|
111 |
140 |
3.6e-2 |
SMART |
|
ANK
|
144 |
173 |
4.89e-4 |
SMART |
|
ANK
|
177 |
206 |
4.03e-5 |
SMART |
|
ANK
|
210 |
239 |
8.72e-1 |
SMART |
|
Blast:ANK
|
243 |
272 |
4e-12 |
BLAST |
|
low complexity region
|
460 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142636
AA Change: S31P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: S31P
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
69 |
7.48e-6 |
PROSPERO |
|
internal_repeat_1
|
81 |
153 |
7.48e-6 |
PROSPERO |
|
low complexity region
|
168 |
183 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,471,352 (GRCm38) |
F632I |
unknown |
Het |
| 5730522E02Rik |
T |
C |
11: 25,769,069 (GRCm38) |
T26A |
unknown |
Het |
| Ablim1 |
A |
T |
19: 57,239,212 (GRCm38) |
V7E |
probably benign |
Het |
| Adcy5 |
T |
G |
16: 35,156,862 (GRCm38) |
L255R |
possibly damaging |
Het |
| Ahnak |
C |
A |
19: 9,004,113 (GRCm38) |
N920K |
possibly damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,733,201 (GRCm38) |
K1251E |
|
Het |
| Astn1 |
T |
A |
1: 158,664,130 (GRCm38) |
|
probably null |
Het |
| Atxn2 |
A |
G |
5: 121,778,000 (GRCm38) |
Y423C |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,909,359 (GRCm38) |
V509D |
possibly damaging |
Het |
| Ccdc80 |
T |
C |
16: 45,104,417 (GRCm38) |
V638A |
possibly damaging |
Het |
| Ccr6 |
T |
G |
17: 8,256,046 (GRCm38) |
C28G |
probably damaging |
Het |
| Cdca7l |
A |
G |
12: 117,865,167 (GRCm38) |
|
probably benign |
Het |
| Cnot3 |
T |
C |
7: 3,651,329 (GRCm38) |
I52T |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,138,687 (GRCm38) |
N555I |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,516,254 (GRCm38) |
I390F |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 119,128,351 (GRCm38) |
D836G |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,851,654 (GRCm38) |
V4438D |
probably damaging |
Het |
| Dok3 |
G |
T |
13: 55,523,722 (GRCm38) |
N345K |
probably damaging |
Het |
| Eea1 |
C |
T |
10: 96,019,879 (GRCm38) |
Q593* |
probably null |
Het |
| Eif3m |
T |
C |
2: 104,999,794 (GRCm38) |
Y351C |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,938,586 (GRCm38) |
L420M |
probably damaging |
Het |
| Epn3 |
T |
C |
11: 94,496,088 (GRCm38) |
E152G |
probably damaging |
Het |
| Faf2 |
A |
G |
13: 54,621,913 (GRCm38) |
S25G |
probably benign |
Het |
| Fam83b |
A |
G |
9: 76,493,075 (GRCm38) |
S249P |
probably damaging |
Het |
| Fgl1 |
A |
T |
8: 41,200,459 (GRCm38) |
S132R |
probably benign |
Het |
| Frem3 |
A |
G |
8: 80,669,246 (GRCm38) |
E1890G |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,092,686 (GRCm38) |
S94T |
unknown |
Het |
| Hectd1 |
A |
G |
12: 51,744,627 (GRCm38) |
V2584A |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,106,476 (GRCm38) |
A498V |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 130,022,610 (GRCm38) |
T132A |
probably benign |
Het |
| Lor |
T |
C |
3: 92,081,139 (GRCm38) |
Y280C |
unknown |
Het |
| Lpin2 |
C |
T |
17: 71,246,967 (GRCm38) |
A931V |
unknown |
Het |
| Lpxn |
A |
G |
19: 12,833,158 (GRCm38) |
H322R |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,435,397 (GRCm38) |
S391P |
probably benign |
Het |
| Mipep |
G |
A |
14: 60,843,253 (GRCm38) |
V565I |
probably benign |
Het |
| Mmrn1 |
C |
T |
6: 60,976,058 (GRCm38) |
T441I |
probably benign |
Het |
| Mrpl48 |
T |
C |
7: 100,574,495 (GRCm38) |
N14S |
probably benign |
Het |
| Ncald |
A |
G |
15: 37,397,268 (GRCm38) |
F56S |
probably damaging |
Het |
| Or9g3 |
T |
C |
2: 85,753,907 (GRCm38) |
|
probably benign |
Het |
| Pals1 |
G |
A |
12: 78,837,524 (GRCm38) |
D640N |
probably damaging |
Het |
| Plcd3 |
A |
G |
11: 103,071,266 (GRCm38) |
V703A |
possibly damaging |
Het |
| Prss59 |
A |
G |
6: 40,921,000 (GRCm38) |
S250P |
possibly damaging |
Het |
| Qser1 |
T |
C |
2: 104,787,357 (GRCm38) |
I947V |
probably benign |
Het |
| Rdx |
G |
A |
9: 52,063,605 (GRCm38) |
A14T |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,430,349 (GRCm38) |
D1211G |
|
Het |
| Sbpl |
T |
C |
17: 23,953,279 (GRCm38) |
D222G |
unknown |
Het |
| Scn8a |
C |
A |
15: 101,002,149 (GRCm38) |
T703K |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,859,244 (GRCm38) |
S403P |
probably benign |
Het |
| Sfmbt2 |
A |
G |
2: 10,404,456 (GRCm38) |
S71G |
probably damaging |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 126,389,036 (GRCm38) |
|
probably benign |
Het |
| Smco3 |
C |
T |
6: 136,831,732 (GRCm38) |
G48D |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 94,067,989 (GRCm38) |
S280P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,231,087 (GRCm38) |
T1498A |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,660,900 (GRCm38) |
D641G |
probably damaging |
Het |
| Top6bl |
T |
C |
19: 4,645,686 (GRCm38) |
I513V |
possibly damaging |
Het |
| Trim43a |
A |
G |
9: 88,582,351 (GRCm38) |
D105G |
probably benign |
Het |
| Utp14b |
T |
A |
1: 78,665,286 (GRCm38) |
N300K |
probably benign |
Het |
| Vmn2r83 |
T |
G |
10: 79,491,526 (GRCm38) |
I656S |
probably damaging |
Het |
| Zfp646 |
A |
T |
7: 127,881,605 (GRCm38) |
M985L |
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,029,224 (GRCm38) |
L412Q |
probably damaging |
Het |
|
| Other mutations in 4930430A15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:4930430A15Rik
|
APN |
2 |
111,220,762 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01403:4930430A15Rik
|
APN |
2 |
111,229,170 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01431:4930430A15Rik
|
APN |
2 |
111,225,395 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01601:4930430A15Rik
|
APN |
2 |
111,193,478 (GRCm38) |
missense |
unknown |
|
|
IGL01649:4930430A15Rik
|
APN |
2 |
111,214,576 (GRCm38) |
splice site |
probably benign |
|
|
IGL02355:4930430A15Rik
|
APN |
2 |
111,211,651 (GRCm38) |
splice site |
probably benign |
|
|
IGL02362:4930430A15Rik
|
APN |
2 |
111,211,651 (GRCm38) |
splice site |
probably benign |
|
|
IGL02485:4930430A15Rik
|
APN |
2 |
111,228,325 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02620:4930430A15Rik
|
APN |
2 |
111,211,625 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03156:4930430A15Rik
|
APN |
2 |
111,200,412 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02980:4930430A15Rik
|
UTSW |
2 |
111,164,473 (GRCm38) |
missense |
unknown |
|
|
R0577:4930430A15Rik
|
UTSW |
2 |
111,194,349 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0638:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0645:4930430A15Rik
|
UTSW |
2 |
111,214,583 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0671:4930430A15Rik
|
UTSW |
2 |
111,204,137 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0829:4930430A15Rik
|
UTSW |
2 |
111,198,105 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1464:4930430A15Rik
|
UTSW |
2 |
111,225,403 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1464:4930430A15Rik
|
UTSW |
2 |
111,225,403 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1486:4930430A15Rik
|
UTSW |
2 |
111,200,358 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1509:4930430A15Rik
|
UTSW |
2 |
111,218,627 (GRCm38) |
missense |
probably benign |
|
|
R1672:4930430A15Rik
|
UTSW |
2 |
111,220,774 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2073:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2074:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2075:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2899:4930430A15Rik
|
UTSW |
2 |
111,220,670 (GRCm38) |
splice site |
probably benign |
|
|
R2965:4930430A15Rik
|
UTSW |
2 |
111,204,019 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R3110:4930430A15Rik
|
UTSW |
2 |
111,228,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3112:4930430A15Rik
|
UTSW |
2 |
111,228,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4489:4930430A15Rik
|
UTSW |
2 |
111,220,702 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4821:4930430A15Rik
|
UTSW |
2 |
111,204,145 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4925:4930430A15Rik
|
UTSW |
2 |
111,218,616 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5045:4930430A15Rik
|
UTSW |
2 |
111,193,459 (GRCm38) |
missense |
unknown |
|
|
R5057:4930430A15Rik
|
UTSW |
2 |
111,225,421 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5128:4930430A15Rik
|
UTSW |
2 |
111,164,329 (GRCm38) |
nonsense |
probably null |
|
|
R5250:4930430A15Rik
|
UTSW |
2 |
111,228,077 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5333:4930430A15Rik
|
UTSW |
2 |
111,194,337 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5376:4930430A15Rik
|
UTSW |
2 |
111,215,599 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5677:4930430A15Rik
|
UTSW |
2 |
111,211,565 (GRCm38) |
missense |
probably benign |
|
|
R5722:4930430A15Rik
|
UTSW |
2 |
111,204,123 (GRCm38) |
missense |
probably benign |
|
|
R5735:4930430A15Rik
|
UTSW |
2 |
111,225,492 (GRCm38) |
nonsense |
probably null |
|
|
R6170:4930430A15Rik
|
UTSW |
2 |
111,227,948 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6366:4930430A15Rik
|
UTSW |
2 |
111,169,592 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6496:4930430A15Rik
|
UTSW |
2 |
111,164,472 (GRCm38) |
missense |
unknown |
|
|
R6654:4930430A15Rik
|
UTSW |
2 |
111,171,884 (GRCm38) |
missense |
unknown |
|
|
R6983:4930430A15Rik
|
UTSW |
2 |
111,228,250 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7371:4930430A15Rik
|
UTSW |
2 |
111,193,481 (GRCm38) |
missense |
unknown |
|
|
R7958:4930430A15Rik
|
UTSW |
2 |
111,170,325 (GRCm38) |
missense |
unknown |
|
|
R8421:4930430A15Rik
|
UTSW |
2 |
111,218,610 (GRCm38) |
nonsense |
probably null |
|
|
R8495:4930430A15Rik
|
UTSW |
2 |
111,229,410 (GRCm38) |
start codon destroyed |
probably null |
0.33 |
|
R8534:4930430A15Rik
|
UTSW |
2 |
111,228,035 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8671:4930430A15Rik
|
UTSW |
2 |
111,229,532 (GRCm38) |
unclassified |
probably benign |
|
|
R8679:4930430A15Rik
|
UTSW |
2 |
111,229,222 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8743:4930430A15Rik
|
UTSW |
2 |
111,169,672 (GRCm38) |
missense |
unknown |
|
|
R9213:4930430A15Rik
|
UTSW |
2 |
111,190,354 (GRCm38) |
missense |
unknown |
|
|
R9457:4930430A15Rik
|
UTSW |
2 |
111,170,286 (GRCm38) |
missense |
unknown |
|
|
R9723:4930430A15Rik
|
UTSW |
2 |
111,228,355 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9745:4930430A15Rik
|
UTSW |
2 |
111,169,663 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTTGTTAACAATTGCAGC -3'
(R):5'- CCTTGAACATGTTGCCATCTAC -3'
Sequencing Primer
(F):5'- CCTTGTTAACAATTGCAGCCATTTAG -3'
(R):5'- TCTTTAAGAGTATAAACAACCAGCTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation