Incidental Mutation 'R5940:3425401B19Rik'
| ID |
462521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
044132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5940 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32384645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 440
(Y440C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096038
AA Change: Y440C
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: Y440C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
135 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1086 |
1097 |
N/A |
INTRINSIC |
|
low complexity region
|
1147 |
1158 |
N/A |
INTRINSIC |
|
low complexity region
|
1161 |
1176 |
N/A |
INTRINSIC |
|
Pfam:DUF4585
|
1251 |
1322 |
6.5e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.0742 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (88/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
T |
5: 77,030,745 (GRCm39) |
S618R |
probably benign |
Het |
| Alpk1 |
T |
G |
3: 127,464,595 (GRCm39) |
T1228P |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,756,316 (GRCm39) |
V850A |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,969,098 (GRCm39) |
|
probably null |
Het |
| Ash1l |
C |
T |
3: 88,891,343 (GRCm39) |
T1074I |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,517,244 (GRCm39) |
S1297F |
possibly damaging |
Het |
| Cchcr1 |
G |
A |
17: 35,835,890 (GRCm39) |
R284Q |
probably damaging |
Het |
| Cd93 |
A |
T |
2: 148,284,152 (GRCm39) |
I398N |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,839,992 (GRCm39) |
D638V |
probably damaging |
Het |
| Chrd |
G |
T |
16: 20,553,336 (GRCm39) |
R226L |
probably null |
Het |
| Clvs1 |
A |
T |
4: 9,449,443 (GRCm39) |
N344I |
possibly damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,774,821 (GRCm39) |
I111N |
probably damaging |
Het |
| Cysltr2 |
T |
A |
14: 73,267,389 (GRCm39) |
Y107F |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Czib |
A |
G |
4: 107,750,485 (GRCm39) |
|
probably benign |
Het |
| Defb47 |
A |
T |
14: 63,238,359 (GRCm39) |
E28D |
probably benign |
Het |
| Dnajc30 |
T |
A |
5: 135,093,413 (GRCm39) |
Y103* |
probably null |
Het |
| Drap1 |
T |
C |
19: 5,473,028 (GRCm39) |
T160A |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,380,002 (GRCm39) |
E2249G |
possibly damaging |
Het |
| E2f8 |
T |
A |
7: 48,520,825 (GRCm39) |
I499F |
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,512,048 (GRCm39) |
Y116N |
probably damaging |
Het |
| Ecrg4 |
C |
T |
1: 43,776,401 (GRCm39) |
R41* |
probably null |
Het |
| Ect2 |
C |
A |
3: 27,169,614 (GRCm39) |
E746D |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,106,227 (GRCm39) |
Y333F |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,943,798 (GRCm39) |
V897A |
probably benign |
Het |
| Gja3 |
T |
A |
14: 57,273,317 (GRCm39) |
S352C |
probably damaging |
Het |
| Gpr153 |
C |
A |
4: 152,367,832 (GRCm39) |
P561Q |
probably benign |
Het |
| Hlcs |
T |
C |
16: 93,935,571 (GRCm39) |
M574V |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,532,973 (GRCm39) |
V3070A |
probably benign |
Het |
| Hsd3b2 |
G |
T |
3: 98,619,287 (GRCm39) |
N219K |
probably benign |
Het |
| Htra3 |
T |
C |
5: 35,810,324 (GRCm39) |
I453V |
possibly damaging |
Het |
| Klrc1 |
A |
T |
6: 129,651,898 (GRCm39) |
M220K |
possibly damaging |
Het |
| Kntc1 |
T |
G |
5: 123,924,258 (GRCm39) |
I1048S |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,504,712 (GRCm39) |
S243G |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,326,674 (GRCm39) |
D2822V |
probably damaging |
Het |
| Mcu |
T |
A |
10: 59,292,554 (GRCm39) |
I42F |
possibly damaging |
Het |
| Mkln1 |
T |
A |
6: 31,466,307 (GRCm39) |
D521E |
probably damaging |
Het |
| Ms4a13 |
T |
C |
19: 11,170,330 (GRCm39) |
N5D |
possibly damaging |
Het |
| Msh3 |
T |
G |
13: 92,386,351 (GRCm39) |
N838T |
probably damaging |
Het |
| Msl2 |
T |
A |
9: 100,978,290 (GRCm39) |
C221* |
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,145,832 (GRCm39) |
S1310P |
probably benign |
Het |
| Ncoa6 |
A |
T |
2: 155,257,785 (GRCm39) |
M586K |
probably damaging |
Het |
| Ndel1 |
C |
T |
11: 68,713,397 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,355,068 (GRCm39) |
|
probably benign |
Het |
| Nes |
T |
G |
3: 87,883,259 (GRCm39) |
V506G |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,339,372 (GRCm39) |
K200E |
probably damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,425,515 (GRCm39) |
K295E |
probably damaging |
Het |
| Or4f54 |
G |
A |
2: 111,122,729 (GRCm39) |
V39M |
possibly damaging |
Het |
| Or5b123 |
T |
A |
19: 13,596,517 (GRCm39) |
|
probably null |
Het |
| Or6s1 |
T |
A |
14: 51,308,179 (GRCm39) |
I224L |
probably damaging |
Het |
| Or8b4 |
C |
T |
9: 37,830,733 (GRCm39) |
T260I |
probably damaging |
Het |
| Or8g51 |
G |
T |
9: 38,609,007 (GRCm39) |
Y218* |
probably null |
Het |
| Or8k38 |
A |
T |
2: 86,488,394 (GRCm39) |
M136K |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pde1a |
A |
G |
2: 79,718,183 (GRCm39) |
|
probably null |
Het |
| Pds5a |
A |
G |
5: 65,801,328 (GRCm39) |
|
probably benign |
Het |
| Plbd1 |
A |
T |
6: 136,590,719 (GRCm39) |
|
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,473,450 (GRCm39) |
V292E |
probably benign |
Het |
| Polg |
A |
G |
7: 79,103,819 (GRCm39) |
V879A |
possibly damaging |
Het |
| Ppargc1a |
C |
T |
5: 51,631,253 (GRCm39) |
A459T |
probably damaging |
Het |
| Prorp |
T |
A |
12: 55,351,659 (GRCm39) |
W323R |
probably damaging |
Het |
| Psip1 |
T |
C |
4: 83,394,559 (GRCm39) |
E83G |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,159,847 (GRCm39) |
D843G |
probably benign |
Het |
| Rnpepl1 |
G |
T |
1: 92,845,434 (GRCm39) |
C451F |
probably damaging |
Het |
| Rrp1 |
T |
C |
10: 78,241,249 (GRCm39) |
D206G |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,798,703 (GRCm39) |
D1492E |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc16a6 |
C |
T |
11: 109,364,022 (GRCm39) |
|
probably benign |
Homo |
| Slc7a6os |
A |
G |
8: 106,937,437 (GRCm39) |
S37P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,495,102 (GRCm39) |
S1140T |
probably damaging |
Het |
| Thoc6 |
C |
A |
17: 23,889,315 (GRCm39) |
R115L |
probably benign |
Het |
| Tmem63c |
C |
T |
12: 87,121,946 (GRCm39) |
H385Y |
probably benign |
Het |
| Trpm8 |
G |
T |
1: 88,279,137 (GRCm39) |
E649* |
probably null |
Het |
| Usf1 |
A |
G |
1: 171,245,347 (GRCm39) |
E253G |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,801,545 (GRCm39) |
T443A |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,927,660 (GRCm39) |
Y93C |
probably damaging |
Het |
| Zfp597 |
A |
T |
16: 3,683,685 (GRCm39) |
I357N |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,644,064 (GRCm39) |
I497V |
possibly damaging |
Het |
| Zxdc |
T |
C |
6: 90,347,307 (GRCm39) |
S223P |
probably damaging |
Het |
|
| Other mutations in 3425401B19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00839:3425401B19Rik
|
APN |
14 |
32,382,873 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL00844:3425401B19Rik
|
APN |
14 |
32,384,956 (GRCm39) |
nonsense |
probably null |
|
|
IGL01292:3425401B19Rik
|
APN |
14 |
32,382,831 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01295:3425401B19Rik
|
APN |
14 |
32,383,893 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01457:3425401B19Rik
|
APN |
14 |
32,382,908 (GRCm39) |
missense |
probably benign |
|
|
IGL01470:3425401B19Rik
|
APN |
14 |
32,382,414 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01612:3425401B19Rik
|
APN |
14 |
32,381,988 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01974:3425401B19Rik
|
APN |
14 |
32,381,762 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02095:3425401B19Rik
|
APN |
14 |
32,383,583 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02138:3425401B19Rik
|
APN |
14 |
32,384,672 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02178:3425401B19Rik
|
APN |
14 |
32,384,418 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02245:3425401B19Rik
|
APN |
14 |
32,381,772 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02529:3425401B19Rik
|
APN |
14 |
32,383,190 (GRCm39) |
missense |
probably benign |
|
|
IGL03401:3425401B19Rik
|
APN |
14 |
32,384,223 (GRCm39) |
nonsense |
probably null |
|
|
PIT4515001:3425401B19Rik
|
UTSW |
14 |
32,383,068 (GRCm39) |
nonsense |
probably null |
|
|
R0233:3425401B19Rik
|
UTSW |
14 |
32,385,330 (GRCm39) |
missense |
probably benign |
|
|
R0233:3425401B19Rik
|
UTSW |
14 |
32,385,330 (GRCm39) |
missense |
probably benign |
|
|
R0320:3425401B19Rik
|
UTSW |
14 |
32,384,571 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0519:3425401B19Rik
|
UTSW |
14 |
32,384,919 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0551:3425401B19Rik
|
UTSW |
14 |
32,384,598 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0759:3425401B19Rik
|
UTSW |
14 |
32,384,454 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0831:3425401B19Rik
|
UTSW |
14 |
32,384,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1124:3425401B19Rik
|
UTSW |
14 |
32,384,039 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1346:3425401B19Rik
|
UTSW |
14 |
32,382,771 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1997:3425401B19Rik
|
UTSW |
14 |
32,382,005 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2055:3425401B19Rik
|
UTSW |
14 |
32,384,508 (GRCm39) |
missense |
probably benign |
|
|
R2212:3425401B19Rik
|
UTSW |
14 |
32,383,559 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2416:3425401B19Rik
|
UTSW |
14 |
32,385,791 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2441:3425401B19Rik
|
UTSW |
14 |
32,385,449 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2513:3425401B19Rik
|
UTSW |
14 |
32,383,809 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3414:3425401B19Rik
|
UTSW |
14 |
32,383,559 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3800:3425401B19Rik
|
UTSW |
14 |
32,385,025 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3809:3425401B19Rik
|
UTSW |
14 |
32,385,650 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4166:3425401B19Rik
|
UTSW |
14 |
32,382,912 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4581:3425401B19Rik
|
UTSW |
14 |
32,383,828 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4721:3425401B19Rik
|
UTSW |
14 |
32,385,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4769:3425401B19Rik
|
UTSW |
14 |
32,382,174 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4809:3425401B19Rik
|
UTSW |
14 |
32,384,588 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4919:3425401B19Rik
|
UTSW |
14 |
32,385,245 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4925:3425401B19Rik
|
UTSW |
14 |
32,385,137 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4972:3425401B19Rik
|
UTSW |
14 |
32,383,361 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5068:3425401B19Rik
|
UTSW |
14 |
32,383,749 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5069:3425401B19Rik
|
UTSW |
14 |
32,383,749 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5070:3425401B19Rik
|
UTSW |
14 |
32,383,749 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5258:3425401B19Rik
|
UTSW |
14 |
32,385,266 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5435:3425401B19Rik
|
UTSW |
14 |
32,383,413 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5549:3425401B19Rik
|
UTSW |
14 |
32,384,993 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5678:3425401B19Rik
|
UTSW |
14 |
32,384,010 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5680:3425401B19Rik
|
UTSW |
14 |
32,384,010 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5872:3425401B19Rik
|
UTSW |
14 |
32,382,309 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5896:3425401B19Rik
|
UTSW |
14 |
32,383,632 (GRCm39) |
nonsense |
probably null |
|
|
R6044:3425401B19Rik
|
UTSW |
14 |
32,382,614 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6136:3425401B19Rik
|
UTSW |
14 |
32,384,239 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6277:3425401B19Rik
|
UTSW |
14 |
32,385,651 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6385:3425401B19Rik
|
UTSW |
14 |
32,383,236 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6728:3425401B19Rik
|
UTSW |
14 |
32,384,645 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6984:3425401B19Rik
|
UTSW |
14 |
32,383,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7047:3425401B19Rik
|
UTSW |
14 |
32,382,131 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7249:3425401B19Rik
|
UTSW |
14 |
32,385,271 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7493:3425401B19Rik
|
UTSW |
14 |
32,385,257 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7575:3425401B19Rik
|
UTSW |
14 |
32,384,589 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7742:3425401B19Rik
|
UTSW |
14 |
32,384,714 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7747:3425401B19Rik
|
UTSW |
14 |
32,385,026 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7784:3425401B19Rik
|
UTSW |
14 |
32,381,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8098:3425401B19Rik
|
UTSW |
14 |
32,384,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8111:3425401B19Rik
|
UTSW |
14 |
32,382,266 (GRCm39) |
nonsense |
probably null |
|
|
R8171:3425401B19Rik
|
UTSW |
14 |
32,383,982 (GRCm39) |
missense |
probably benign |
|
|
R8276:3425401B19Rik
|
UTSW |
14 |
32,385,885 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8330:3425401B19Rik
|
UTSW |
14 |
32,381,750 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8422:3425401B19Rik
|
UTSW |
14 |
32,384,254 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8464:3425401B19Rik
|
UTSW |
14 |
32,381,934 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8880:3425401B19Rik
|
UTSW |
14 |
32,382,837 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8898:3425401B19Rik
|
UTSW |
14 |
32,383,001 (GRCm39) |
nonsense |
probably null |
|
|
R8911:3425401B19Rik
|
UTSW |
14 |
32,383,626 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8934:3425401B19Rik
|
UTSW |
14 |
32,382,614 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9094:3425401B19Rik
|
UTSW |
14 |
32,382,614 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9399:3425401B19Rik
|
UTSW |
14 |
32,384,615 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9435:3425401B19Rik
|
UTSW |
14 |
32,382,562 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9485:3425401B19Rik
|
UTSW |
14 |
32,383,400 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9766:3425401B19Rik
|
UTSW |
14 |
32,385,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0025:3425401B19Rik
|
UTSW |
14 |
32,384,426 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:3425401B19Rik
|
UTSW |
14 |
32,383,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:3425401B19Rik
|
UTSW |
14 |
32,381,765 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGATTTGTAGCTATCCCGAG -3'
(R):5'- CCTGTAGAGGGGAATGCTTC -3'
Sequencing Primer
(F):5'- ATTTGTAGCTATCCCGAGACTGAGC -3'
(R):5'- GGGAATGCTTCACAGATTGACCC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation