Incidental Mutation 'R7701:4932414N04Rik'
| ID |
593987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4932414N04Rik
|
| Ensembl Gene |
ENSMUSG00000079324 |
| Gene Name |
RIKEN cDNA 4932414N04 gene |
| Synonyms |
|
| MMRRC Submission |
045762-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7701 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
68487135-68578876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 68561548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 292
(V292M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055930]
[ENSMUST00000128259]
|
| AlphaFold |
Q8CEQ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055930
AA Change: V292M
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: V292M
| 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 |
possibly damaging
Transcript: ENSMUST00000128259
AA Change: V292M
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: V292M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930470P17Rik |
T |
C |
2: 170,443,225 (GRCm39) |
|
probably benign |
Het |
| Actn1 |
A |
T |
12: 80,221,328 (GRCm39) |
V575E |
possibly damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,612,003 (GRCm39) |
S129P |
probably benign |
Het |
| Aup1 |
T |
C |
6: 83,032,908 (GRCm39) |
V214A |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,135,874 (GRCm39) |
E329G |
probably damaging |
Het |
| Brinp2 |
A |
G |
1: 158,094,030 (GRCm39) |
|
probably null |
Het |
| Ccdc3 |
A |
G |
2: 5,142,868 (GRCm39) |
T42A |
possibly damaging |
Het |
| Cd276 |
T |
C |
9: 58,442,810 (GRCm39) |
N215S |
probably benign |
Het |
| Col24a1 |
T |
A |
3: 145,020,772 (GRCm39) |
M381K |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,072,656 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
A |
C |
9: 105,960,087 (GRCm39) |
F19V |
probably benign |
Het |
| Crybg1 |
G |
T |
10: 43,865,139 (GRCm39) |
A1446E |
probably benign |
Het |
| Dach1 |
C |
T |
14: 98,140,670 (GRCm39) |
R496K |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,253,513 (GRCm39) |
T2308A |
possibly damaging |
Het |
| Duxf1 |
A |
G |
10: 58,058,885 (GRCm39) |
V623A |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,585,080 (GRCm39) |
D828N |
probably damaging |
Het |
| Eif2a |
A |
T |
3: 58,459,991 (GRCm39) |
H462L |
possibly damaging |
Het |
| Flot2 |
A |
G |
11: 77,928,942 (GRCm39) |
|
probably null |
Het |
| Gas2 |
T |
G |
7: 51,643,101 (GRCm39) |
Y263* |
probably null |
Het |
| Gm5111 |
A |
G |
6: 48,567,027 (GRCm39) |
I81V |
unknown |
Het |
| Iqcm |
A |
G |
8: 76,281,539 (GRCm39) |
I7M |
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,389,129 (GRCm39) |
|
probably null |
Het |
| Lnx2 |
A |
T |
5: 146,961,333 (GRCm39) |
V533E |
probably damaging |
Het |
| Mapk8ip3 |
G |
T |
17: 25,120,378 (GRCm39) |
P904T |
possibly damaging |
Het |
| Mcm5 |
C |
A |
8: 75,850,551 (GRCm39) |
H596N |
probably benign |
Het |
| Miip |
A |
T |
4: 147,947,371 (GRCm39) |
V237E |
probably null |
Het |
| Mob3a |
G |
A |
10: 80,525,768 (GRCm39) |
A181V |
probably damaging |
Het |
| Mrpl38 |
G |
A |
11: 116,026,104 (GRCm39) |
R99W |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,564,042 (GRCm39) |
T486A |
probably benign |
Het |
| Or2z9 |
T |
A |
8: 72,854,030 (GRCm39) |
L142Q |
probably damaging |
Het |
| Or5b102 |
A |
G |
19: 13,041,445 (GRCm39) |
I223M |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,662,597 (GRCm39) |
Y305C |
probably benign |
Het |
| Pcdha8 |
A |
T |
18: 37,126,864 (GRCm39) |
N449Y |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,562 (GRCm39) |
D161V |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,361,576 (GRCm39) |
D134G |
probably benign |
Het |
| Phpt1 |
A |
G |
2: 25,464,799 (GRCm39) |
V18A |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,333,293 (GRCm39) |
K177E |
possibly damaging |
Het |
| Psmb1 |
A |
G |
17: 15,697,509 (GRCm39) |
F202S |
probably benign |
Het |
| Rab14 |
A |
G |
2: 35,073,427 (GRCm39) |
F150L |
|
Het |
| Rgs14 |
A |
G |
13: 55,527,138 (GRCm39) |
D169G |
probably damaging |
Het |
| Rreb1 |
C |
T |
13: 38,114,092 (GRCm39) |
L484F |
possibly damaging |
Het |
| Rsph14 |
A |
T |
10: 74,793,608 (GRCm39) |
Y264* |
probably null |
Het |
| Scly |
T |
C |
1: 91,236,030 (GRCm39) |
I152T |
|
Het |
| Ska1 |
A |
T |
18: 74,335,714 (GRCm39) |
H85Q |
probably damaging |
Het |
| Slc35b3 |
T |
C |
13: 39,128,611 (GRCm39) |
M159V |
probably benign |
Het |
| Smok2b |
A |
G |
17: 13,453,767 (GRCm39) |
|
probably benign |
Het |
| Spock1 |
G |
A |
13: 57,735,472 (GRCm39) |
Q103* |
probably null |
Het |
| Topbp1 |
T |
C |
9: 103,210,184 (GRCm39) |
V914A |
probably damaging |
Het |
| Tspan3 |
A |
T |
9: 56,054,803 (GRCm39) |
Y41* |
probably null |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,560,028 (GRCm39) |
I29458L |
possibly damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,705,974 (GRCm39) |
S183P |
probably benign |
Het |
| Zfat |
C |
A |
15: 68,052,757 (GRCm39) |
E346* |
probably null |
Het |
| Zfp341 |
T |
A |
2: 154,476,000 (GRCm39) |
|
probably null |
Het |
| Zfp54 |
A |
G |
17: 21,654,357 (GRCm39) |
T284A |
probably benign |
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 |
|
R2292:4932414N04Rik
|
UTSW |
2 |
68,562,483 (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 |
|
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'- GGCTAGAACTACAGAAACATAATGC -3'
(R):5'- GAAGCTCATTTGTCATCAGTGTTTTCC -3'
Sequencing Primer
(F):5'- CAAGCAGGACGAGATTTCT -3'
(R):5'- GCACTTTTGTGAGAGATGAT -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation