Incidental Mutation 'R9627:4932414N04Rik'
ID |
725196 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4932414N04Rik
|
Ensembl Gene |
ENSMUSG00000079324 |
Gene Name |
RIKEN cDNA 4932414N04 gene |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9627 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
68487135-68578876 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 68487834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055930]
[ENSMUST00000125621]
[ENSMUST00000128259]
|
AlphaFold |
Q8CEQ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055930
|
SMART Domains |
Protein: ENSMUSP00000059809 Gene: ENSMUSG00000079324
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: ENSMUST00000125621
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128259
|
SMART Domains |
Protein: ENSMUSP00000135792 Gene: ENSMUSG00000079324
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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
C |
7: 119,854,530 (GRCm39) |
V898A |
probably benign |
Het |
Adamtsl1 |
A |
T |
4: 86,306,762 (GRCm39) |
D1400V |
possibly damaging |
Het |
Akap6 |
T |
A |
12: 53,151,413 (GRCm39) |
M1159K |
|
Het |
Atg13 |
C |
A |
2: 91,509,098 (GRCm39) |
G446* |
probably null |
Het |
Atp6v1g2 |
G |
T |
17: 35,454,956 (GRCm39) |
|
probably null |
Het |
Bmp2k |
C |
T |
5: 97,201,028 (GRCm39) |
A316V |
possibly damaging |
Het |
Ccdc34 |
AAGA |
AA |
2: 109,871,010 (GRCm39) |
|
probably null |
Het |
Cfap251 |
A |
G |
5: 123,460,557 (GRCm39) |
D1173G |
probably benign |
Het |
Cln6 |
T |
A |
9: 62,754,303 (GRCm39) |
I115N |
probably damaging |
Het |
Cma1 |
T |
C |
14: 56,181,289 (GRCm39) |
T39A |
probably benign |
Het |
Cpsf1 |
A |
T |
15: 76,484,088 (GRCm39) |
M744K |
probably damaging |
Het |
Csf1r |
A |
G |
18: 61,260,972 (GRCm39) |
Y721C |
probably damaging |
Het |
Dcaf12 |
A |
G |
4: 41,293,976 (GRCm39) |
L387P |
probably benign |
Het |
Ephb1 |
T |
C |
9: 101,918,468 (GRCm39) |
E347G |
possibly damaging |
Het |
Fig4 |
T |
A |
10: 41,108,178 (GRCm39) |
H674L |
probably benign |
Het |
Foxa3 |
T |
A |
7: 18,748,458 (GRCm39) |
K223* |
probably null |
Het |
Gimap7 |
T |
C |
6: 48,700,600 (GRCm39) |
V62A |
probably damaging |
Het |
Glrx3 |
T |
A |
7: 137,046,755 (GRCm39) |
V49E |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,756,167 (GRCm39) |
Y823C |
probably damaging |
Het |
H3c7 |
G |
T |
13: 23,728,793 (GRCm39) |
V47L |
possibly damaging |
Het |
Hapln4 |
C |
A |
8: 70,539,520 (GRCm39) |
R184S |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,506,054 (GRCm39) |
C3824Y |
probably damaging |
Het |
Hrnr |
T |
C |
3: 93,233,235 (GRCm39) |
S1158P |
unknown |
Het |
Itln1 |
A |
G |
1: 171,360,985 (GRCm39) |
S36P |
probably benign |
Het |
Kcnh5 |
A |
C |
12: 75,160,990 (GRCm39) |
I306S |
probably damaging |
Het |
Kctd19 |
T |
A |
8: 106,113,997 (GRCm39) |
M559L |
probably benign |
Het |
Kif2a |
A |
G |
13: 107,158,558 (GRCm39) |
I9T |
possibly damaging |
Het |
Klra5 |
G |
A |
6: 129,883,701 (GRCm39) |
T142I |
probably benign |
Het |
Ldlrad3 |
A |
G |
2: 101,785,423 (GRCm39) |
V184A |
probably damaging |
Het |
Lrrc27 |
T |
C |
7: 138,808,582 (GRCm39) |
|
probably benign |
Het |
Mark1 |
A |
G |
1: 184,646,817 (GRCm39) |
V340A |
probably benign |
Het |
Mrps31 |
T |
C |
8: 22,901,558 (GRCm39) |
V26A |
probably benign |
Het |
Mtrr |
G |
A |
13: 68,725,756 (GRCm39) |
L118F |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nbas |
G |
T |
12: 13,350,203 (GRCm39) |
V285F |
possibly damaging |
Het |
Nfrkb |
T |
C |
9: 31,321,189 (GRCm39) |
L675P |
possibly damaging |
Het |
Or10v9 |
T |
A |
19: 11,832,910 (GRCm39) |
I136F |
possibly damaging |
Het |
Or1q1 |
T |
A |
2: 36,887,665 (GRCm39) |
V281E |
|
Het |
Or5k15 |
T |
A |
16: 58,709,771 (GRCm39) |
I271L |
probably benign |
Het |
Phkg1 |
C |
T |
5: 129,893,376 (GRCm39) |
W358* |
probably null |
Het |
Plekhj1 |
A |
C |
10: 80,633,494 (GRCm39) |
I51S |
possibly damaging |
Het |
Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
Prkg2 |
T |
C |
5: 99,079,869 (GRCm39) |
*763W |
probably null |
Het |
Rhobtb2 |
A |
G |
14: 70,034,349 (GRCm39) |
F292S |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,007,002 (GRCm39) |
C769* |
probably null |
Het |
Rmi1 |
C |
A |
13: 58,557,366 (GRCm39) |
D538E |
possibly damaging |
Het |
Scn4a |
C |
T |
11: 106,212,839 (GRCm39) |
V1389I |
probably benign |
Het |
Serpinc1 |
A |
T |
1: 160,821,101 (GRCm39) |
K183* |
probably null |
Het |
Setd4 |
A |
T |
16: 93,380,562 (GRCm39) |
M399K |
possibly damaging |
Het |
Setx |
T |
C |
2: 29,034,661 (GRCm39) |
M382T |
probably damaging |
Het |
Slc6a9 |
A |
G |
4: 117,721,210 (GRCm39) |
Y208C |
probably damaging |
Het |
Slfn2 |
A |
T |
11: 82,960,367 (GRCm39) |
K115N |
|
Het |
Snrk |
A |
T |
9: 121,966,427 (GRCm39) |
K117* |
probably null |
Het |
Spata31 |
A |
G |
13: 65,065,409 (GRCm39) |
Y38C |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,793,704 (GRCm39) |
T464A |
probably damaging |
Het |
Tagap1 |
C |
T |
17: 7,224,327 (GRCm39) |
G123D |
probably benign |
Het |
Tas2r136 |
T |
C |
6: 132,754,948 (GRCm39) |
K60E |
possibly damaging |
Het |
Tasor |
T |
C |
14: 27,194,123 (GRCm39) |
S1108P |
probably benign |
Het |
Tmem200b |
A |
C |
4: 131,649,437 (GRCm39) |
Y119S |
probably damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Wwp2 |
T |
G |
8: 108,278,959 (GRCm39) |
L578W |
probably damaging |
Het |
Zfp53 |
T |
A |
17: 21,728,745 (GRCm39) |
C259* |
probably null |
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 |
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 |
|
X0025:4932414N04Rik
|
UTSW |
2 |
68,559,360 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCCAAAAGTGTGACTTGG -3'
(R):5'- ACATTTGTAGAGAGTGGATTGGAC -3'
Sequencing Primer
(F):5'- GCCAAAAGTGTGACTTGGTTTAAG -3'
(R):5'- TGTAGAGAGTGGATTGGACATAATTC -3'
|
Posted On |
2022-09-12 |