Incidental Mutation 'R3916:4932414N04Rik'
| ID |
309723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4932414N04Rik
|
| Ensembl Gene |
ENSMUSG00000079324 |
| Gene Name |
RIKEN cDNA 4932414N04 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3916 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
68487135-68578876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 68562329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 319
(F319V)
|
| 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: F319V
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: F319V
| 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: F319V
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: F319V
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
A |
G |
5: 121,737,277 (GRCm39) |
V498A |
probably damaging |
Het |
| Adam19 |
A |
G |
11: 45,951,762 (GRCm39) |
E37G |
probably benign |
Het |
| Anks3 |
A |
G |
16: 4,765,143 (GRCm39) |
Y423H |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,259,668 (GRCm39) |
V600D |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,504,197 (GRCm39) |
F939L |
probably benign |
Het |
| Arhgef2 |
A |
G |
3: 88,540,340 (GRCm39) |
N127S |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,392,928 (GRCm39) |
S2100G |
probably benign |
Het |
| Atp1b2 |
A |
G |
11: 69,493,901 (GRCm39) |
V93A |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,924,084 (GRCm39) |
V1283A |
possibly damaging |
Het |
| Bpifb5 |
A |
C |
2: 154,070,101 (GRCm39) |
K184Q |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
| Cant1 |
A |
G |
11: 118,299,572 (GRCm39) |
V259A |
probably damaging |
Het |
| Ccdc89 |
A |
G |
7: 90,076,033 (GRCm39) |
D81G |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
C |
G |
8: 113,602,165 (GRCm39) |
P1190A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,384,362 (GRCm39) |
Y567* |
probably null |
Het |
| Cyp4f18 |
A |
T |
8: 72,749,881 (GRCm39) |
F256Y |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,186 (GRCm39) |
R1462H |
probably damaging |
Het |
| Dync1i2 |
A |
G |
2: 71,079,716 (GRCm39) |
T377A |
probably damaging |
Het |
| F2 |
G |
A |
2: 91,455,833 (GRCm39) |
T600M |
probably damaging |
Het |
| Fam91a1 |
C |
T |
15: 58,302,583 (GRCm39) |
H308Y |
probably damaging |
Het |
| Fkbp2 |
C |
A |
19: 6,955,925 (GRCm39) |
|
probably null |
Het |
| Gabarapl2 |
T |
A |
8: 112,679,028 (GRCm39) |
F115L |
probably benign |
Het |
| Heatr3 |
T |
G |
8: 88,876,999 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
T |
G |
1: 173,583,341 (GRCm39) |
K292N |
possibly damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,728 (GRCm39) |
I62N |
probably benign |
Het |
| Kcnab1 |
G |
A |
3: 65,211,585 (GRCm39) |
|
probably null |
Het |
| Krt88 |
G |
A |
15: 101,350,809 (GRCm39) |
|
probably null |
Het |
| Larp4 |
C |
T |
15: 99,888,284 (GRCm39) |
T107I |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,166,778 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,346,344 (GRCm39) |
Y3174C |
possibly damaging |
Het |
| Lyzl4 |
T |
A |
9: 121,412,101 (GRCm39) |
D105V |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,961,494 (GRCm39) |
I575V |
probably benign |
Het |
| Myh7 |
C |
A |
14: 55,211,503 (GRCm39) |
E1555D |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,394,439 (GRCm39) |
C608* |
probably null |
Het |
| Obox3 |
C |
A |
7: 15,361,151 (GRCm39) |
C38F |
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,017,074 (GRCm39) |
D441G |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,598 (GRCm39) |
I235F |
possibly damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,167,296 (GRCm39) |
V259A |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,107,957 (GRCm39) |
T1590A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 142,036,999 (GRCm39) |
D817E |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,477,657 (GRCm39) |
F482S |
probably damaging |
Het |
| Slc35a5 |
G |
C |
16: 44,978,521 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,710,427 (GRCm39) |
I346V |
probably benign |
Het |
| Slu7 |
G |
T |
11: 43,331,511 (GRCm39) |
|
probably null |
Het |
| Spns1 |
A |
T |
7: 125,970,711 (GRCm39) |
|
probably null |
Het |
| Supv3l1 |
T |
C |
10: 62,285,199 (GRCm39) |
D89G |
possibly damaging |
Het |
| Taf1c |
G |
A |
8: 120,327,244 (GRCm39) |
R412W |
probably damaging |
Het |
| Tctn3 |
T |
A |
19: 40,596,093 (GRCm39) |
T305S |
possibly damaging |
Het |
| Tekt1 |
A |
G |
11: 72,236,574 (GRCm39) |
I296T |
possibly damaging |
Het |
| Tet2 |
T |
C |
3: 133,191,816 (GRCm39) |
K873E |
possibly damaging |
Het |
| Thada |
G |
A |
17: 84,749,210 (GRCm39) |
A587V |
possibly damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,782,884 (GRCm39) |
N712Y |
probably damaging |
Het |
| Tnks |
A |
G |
8: 35,320,515 (GRCm39) |
S719P |
probably damaging |
Het |
| Tnrc6a |
A |
C |
7: 122,780,607 (GRCm39) |
Q1332H |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,174,560 (GRCm39) |
D309G |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,643,547 (GRCm39) |
K221E |
possibly damaging |
Het |
| Uba5 |
A |
T |
9: 103,931,389 (GRCm39) |
C227S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,716,654 (GRCm39) |
C2925R |
probably benign |
Het |
| Vmn2r83 |
G |
A |
10: 79,314,744 (GRCm39) |
G331R |
probably benign |
Het |
| Xirp2 |
G |
T |
2: 67,341,766 (GRCm39) |
V1336F |
probably benign |
Het |
| Zbed5 |
T |
C |
5: 129,931,118 (GRCm39) |
Y356H |
possibly damaging |
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 |
|
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 |
|
|
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'- GATCCTGAGCATTTCCACTAGAG -3'
(R):5'- TCCAGGTGGGCTATTATGGAC -3'
Sequencing Primer
(F):5'- GTAGAGGGTATTTCACATGTACTTCC -3'
(R):5'- CTATTATGGACTGATTTGCGGGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation