Incidental Mutation 'R4619:1110002E22Rik'
| ID |
345158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1110002E22Rik
|
| Ensembl Gene |
ENSMUSG00000090066 |
| Gene Name |
RIKEN cDNA 1110002E22 gene |
| Synonyms |
|
| MMRRC Submission |
041885-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R4619 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
138065052-138081506 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 138069759 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1570
(V1570I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053318]
[ENSMUST00000163080]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053318
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163080
AA Change: V1570I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: V1570I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
937 |
948 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1007 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1115 |
N/A |
INTRINSIC |
|
low complexity region
|
1224 |
1242 |
N/A |
INTRINSIC |
|
low complexity region
|
1376 |
1385 |
N/A |
INTRINSIC |
|
Pfam:DUF4585
|
1598 |
1667 |
6.9e-32 |
PFAM |
|
low complexity region
|
1723 |
1738 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184925
|
| Meta Mutation Damage Score |
0.0832 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx4 |
A |
G |
2: 93,642,761 (GRCm38) |
R35G |
probably damaging |
Het |
| Apod |
T |
C |
16: 31,297,393 (GRCm38) |
D173G |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,526,024 (GRCm38) |
T731I |
possibly damaging |
Het |
| Birc6 |
A |
C |
17: 74,640,150 (GRCm38) |
T2955P |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 122,860,873 (GRCm38) |
D179N |
probably damaging |
Het |
| Cntnap5c |
G |
T |
17: 58,410,268 (GRCm38) |
V1282L |
probably benign |
Het |
| Crocc2 |
G |
A |
1: 93,213,650 (GRCm38) |
R1175H |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,174,824 (GRCm38) |
D349G |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,638,844 (GRCm38) |
I2372V |
probably benign |
Het |
| Fam196a |
A |
G |
7: 134,918,541 (GRCm38) |
Y87H |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 156,047,087 (GRCm38) |
W389R |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,765,204 (GRCm38) |
T1297A |
unknown |
Het |
| Gart |
T |
C |
16: 91,625,433 (GRCm38) |
N732S |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,423,098 (GRCm38) |
I463V |
probably benign |
Het |
| Gm5591 |
G |
A |
7: 38,520,648 (GRCm38) |
S267L |
probably benign |
Het |
| Gzmk |
A |
G |
13: 113,173,123 (GRCm38) |
V92A |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,546,573 (GRCm38) |
R2680W |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,234,101 (GRCm38) |
V646M |
probably damaging |
Het |
| Kcnk7 |
A |
C |
19: 5,706,435 (GRCm38) |
I230L |
probably benign |
Het |
| Kif3b |
C |
T |
2: 153,316,674 (GRCm38) |
R132* |
probably null |
Het |
| Klra5 |
T |
C |
6: 129,908,813 (GRCm38) |
S128G |
probably benign |
Het |
| Krba1 |
C |
T |
6: 48,406,348 (GRCm38) |
R4* |
probably null |
Het |
| Krt2 |
T |
A |
15: 101,817,591 (GRCm38) |
I171F |
probably damaging |
Het |
| Lss |
A |
G |
10: 76,536,255 (GRCm38) |
D148G |
probably benign |
Het |
| Mavs |
G |
T |
2: 131,240,450 (GRCm38) |
A85S |
probably damaging |
Het |
| Mipep |
T |
C |
14: 60,903,416 (GRCm38) |
C566R |
probably damaging |
Het |
| Myocd |
T |
A |
11: 65,178,428 (GRCm38) |
|
probably benign |
Het |
| Ndufa9 |
C |
T |
6: 126,827,535 (GRCm38) |
|
probably null |
Het |
| Nolc1 |
G |
A |
19: 46,083,520 (GRCm38) |
G583D |
probably damaging |
Het |
| Nucb2 |
T |
C |
7: 116,527,824 (GRCm38) |
|
probably null |
Het |
| Olfr1357 |
T |
C |
10: 78,612,575 (GRCm38) |
D22G |
probably benign |
Het |
| Olfr487 |
A |
T |
7: 108,212,094 (GRCm38) |
I145N |
possibly damaging |
Het |
| Olfr596 |
C |
T |
7: 103,309,958 (GRCm38) |
T79I |
probably benign |
Het |
| Pank4 |
C |
A |
4: 154,976,619 (GRCm38) |
D508E |
probably benign |
Het |
| Phb |
T |
A |
11: 95,671,590 (GRCm38) |
|
probably benign |
Het |
| Pign |
T |
A |
1: 105,521,990 (GRCm38) |
|
probably benign |
Het |
| Plec |
T |
C |
15: 76,192,182 (GRCm38) |
K349E |
probably benign |
Het |
| Ppp1r3c |
A |
T |
19: 36,734,343 (GRCm38) |
V9E |
possibly damaging |
Het |
| Rap1gap |
T |
A |
4: 137,716,111 (GRCm38) |
V130D |
probably damaging |
Het |
| Senp3 |
T |
A |
11: 69,677,118 (GRCm38) |
Y432F |
probably benign |
Het |
| Serpina3f |
T |
C |
12: 104,217,290 (GRCm38) |
I137T |
possibly damaging |
Het |
| Slc46a3 |
T |
A |
5: 147,886,730 (GRCm38) |
K101* |
probably null |
Het |
| Snph |
G |
A |
2: 151,594,514 (GRCm38) |
Q96* |
probably null |
Het |
| Sptb |
A |
T |
12: 76,583,807 (GRCm38) |
C2244* |
probably null |
Het |
| Srbd1 |
A |
T |
17: 86,109,265 (GRCm38) |
F488L |
probably benign |
Het |
| Ssc5d |
A |
T |
7: 4,929,525 (GRCm38) |
H396L |
probably damaging |
Het |
| Sulf1 |
A |
C |
1: 12,786,652 (GRCm38) |
R42S |
probably damaging |
Het |
| Taf1a |
T |
A |
1: 183,400,598 (GRCm38) |
|
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,926,218 (GRCm38) |
M609K |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,518,342 (GRCm38) |
I1588F |
probably damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,043,286 (GRCm38) |
V402I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 79,021,470 (GRCm38) |
D524G |
probably damaging |
Het |
| Trbv31 |
T |
C |
6: 41,557,967 (GRCm38) |
I21V |
probably benign |
Het |
| Vmn1r74 |
G |
C |
7: 11,847,476 (GRCm38) |
Q234H |
probably damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,847,471 (GRCm38) |
T233S |
possibly damaging |
Het |
| Vsx1 |
A |
T |
2: 150,688,609 (GRCm38) |
S118T |
probably benign |
Het |
| Wnt9b |
G |
A |
11: 103,731,123 (GRCm38) |
T236I |
probably benign |
Het |
| Zbtb21 |
T |
C |
16: 97,949,892 (GRCm38) |
T1092A |
possibly damaging |
Het |
| Zc3hc1 |
G |
A |
6: 30,387,524 (GRCm38) |
T52I |
probably benign |
Het |
| Zfp558 |
T |
A |
9: 18,456,281 (GRCm38) |
N404Y |
possibly damaging |
Het |
| Zfp735 |
A |
T |
11: 73,711,205 (GRCm38) |
D325V |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,781,959 (GRCm38) |
M96K |
probably damaging |
Het |
|
| Other mutations in 1110002E22Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0026:1110002E22Rik
|
UTSW |
3 |
138,066,805 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0047:1110002E22Rik
|
UTSW |
3 |
138,066,264 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0047:1110002E22Rik
|
UTSW |
3 |
138,066,264 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0102:1110002E22Rik
|
UTSW |
3 |
138,068,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0102:1110002E22Rik
|
UTSW |
3 |
138,068,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0197:1110002E22Rik
|
UTSW |
3 |
138,069,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0239:1110002E22Rik
|
UTSW |
3 |
138,065,834 (GRCm38) |
small deletion |
probably benign |
|
|
R0394:1110002E22Rik
|
UTSW |
3 |
138,067,304 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0401:1110002E22Rik
|
UTSW |
3 |
138,070,306 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0496:1110002E22Rik
|
UTSW |
3 |
138,068,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0591:1110002E22Rik
|
UTSW |
3 |
138,068,943 (GRCm38) |
nonsense |
probably null |
|
|
R0711:1110002E22Rik
|
UTSW |
3 |
138,068,225 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0883:1110002E22Rik
|
UTSW |
3 |
138,069,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0908:1110002E22Rik
|
UTSW |
3 |
138,070,077 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0968:1110002E22Rik
|
UTSW |
3 |
138,067,206 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1023:1110002E22Rik
|
UTSW |
3 |
138,066,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1168:1110002E22Rik
|
UTSW |
3 |
138,067,900 (GRCm38) |
missense |
probably benign |
0.20 |
|
R1472:1110002E22Rik
|
UTSW |
3 |
138,067,552 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1538:1110002E22Rik
|
UTSW |
3 |
138,065,401 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1648:1110002E22Rik
|
UTSW |
3 |
138,069,420 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1800:1110002E22Rik
|
UTSW |
3 |
138,066,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1919:1110002E22Rik
|
UTSW |
3 |
138,067,270 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1974:1110002E22Rik
|
UTSW |
3 |
138,067,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1990:1110002E22Rik
|
UTSW |
3 |
138,065,658 (GRCm38) |
nonsense |
probably null |
|
|
R1991:1110002E22Rik
|
UTSW |
3 |
138,065,658 (GRCm38) |
nonsense |
probably null |
|
|
R2102:1110002E22Rik
|
UTSW |
3 |
138,065,173 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2761:1110002E22Rik
|
UTSW |
3 |
138,067,780 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2899:1110002E22Rik
|
UTSW |
3 |
138,065,682 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3618:1110002E22Rik
|
UTSW |
3 |
138,068,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3904:1110002E22Rik
|
UTSW |
3 |
138,066,639 (GRCm38) |
missense |
probably benign |
0.15 |
|
R3955:1110002E22Rik
|
UTSW |
3 |
138,068,073 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4520:1110002E22Rik
|
UTSW |
3 |
138,070,266 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4736:1110002E22Rik
|
UTSW |
3 |
138,068,485 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4752:1110002E22Rik
|
UTSW |
3 |
138,069,990 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4777:1110002E22Rik
|
UTSW |
3 |
138,065,742 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4780:1110002E22Rik
|
UTSW |
3 |
138,065,370 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4824:1110002E22Rik
|
UTSW |
3 |
138,065,676 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4829:1110002E22Rik
|
UTSW |
3 |
138,069,019 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4965:1110002E22Rik
|
UTSW |
3 |
138,069,672 (GRCm38) |
missense |
probably benign |
|
|
R5206:1110002E22Rik
|
UTSW |
3 |
138,066,511 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5212:1110002E22Rik
|
UTSW |
3 |
138,065,850 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R5373:1110002E22Rik
|
UTSW |
3 |
138,067,635 (GRCm38) |
missense |
probably benign |
|
|
R5374:1110002E22Rik
|
UTSW |
3 |
138,067,635 (GRCm38) |
missense |
probably benign |
|
|
R5506:1110002E22Rik
|
UTSW |
3 |
138,067,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5528:1110002E22Rik
|
UTSW |
3 |
138,066,499 (GRCm38) |
missense |
probably benign |
|
|
R5536:1110002E22Rik
|
UTSW |
3 |
138,066,388 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5587:1110002E22Rik
|
UTSW |
3 |
138,065,409 (GRCm38) |
missense |
probably benign |
|
|
R5759:1110002E22Rik
|
UTSW |
3 |
138,068,658 (GRCm38) |
missense |
probably benign |
|
|
R5933:1110002E22Rik
|
UTSW |
3 |
138,070,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5957:1110002E22Rik
|
UTSW |
3 |
138,070,161 (GRCm38) |
missense |
probably benign |
|
|
R6092:1110002E22Rik
|
UTSW |
3 |
138,068,940 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6305:1110002E22Rik
|
UTSW |
3 |
138,067,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6457:1110002E22Rik
|
UTSW |
3 |
138,066,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6469:1110002E22Rik
|
UTSW |
3 |
138,066,975 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6499:1110002E22Rik
|
UTSW |
3 |
138,068,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6527:1110002E22Rik
|
UTSW |
3 |
138,067,527 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6580:1110002E22Rik
|
UTSW |
3 |
138,066,625 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6693:1110002E22Rik
|
UTSW |
3 |
138,069,154 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6751:1110002E22Rik
|
UTSW |
3 |
138,066,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6852:1110002E22Rik
|
UTSW |
3 |
138,065,169 (GRCm38) |
nonsense |
probably null |
|
|
R6920:1110002E22Rik
|
UTSW |
3 |
138,068,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7001:1110002E22Rik
|
UTSW |
3 |
138,065,511 (GRCm38) |
missense |
probably benign |
|
|
R7145:1110002E22Rik
|
UTSW |
3 |
138,070,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7238:1110002E22Rik
|
UTSW |
3 |
138,069,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7278:1110002E22Rik
|
UTSW |
3 |
138,065,476 (GRCm38) |
missense |
probably benign |
|
|
R7425:1110002E22Rik
|
UTSW |
3 |
138,065,695 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7487:1110002E22Rik
|
UTSW |
3 |
138,066,868 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7557:1110002E22Rik
|
UTSW |
3 |
138,068,283 (GRCm38) |
nonsense |
probably null |
|
|
R7663:1110002E22Rik
|
UTSW |
3 |
138,066,126 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7743:1110002E22Rik
|
UTSW |
3 |
138,068,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7799:1110002E22Rik
|
UTSW |
3 |
138,069,601 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8181:1110002E22Rik
|
UTSW |
3 |
138,068,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8264:1110002E22Rik
|
UTSW |
3 |
138,067,782 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8273:1110002E22Rik
|
UTSW |
3 |
138,066,450 (GRCm38) |
missense |
probably benign |
|
|
R8434:1110002E22Rik
|
UTSW |
3 |
138,067,260 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8530:1110002E22Rik
|
UTSW |
3 |
138,068,825 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8754:1110002E22Rik
|
UTSW |
3 |
138,066,037 (GRCm38) |
missense |
probably benign |
|
|
R8808:1110002E22Rik
|
UTSW |
3 |
138,070,113 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8891:1110002E22Rik
|
UTSW |
3 |
138,066,759 (GRCm38) |
nonsense |
probably null |
|
|
R9026:1110002E22Rik
|
UTSW |
3 |
138,065,148 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9177:1110002E22Rik
|
UTSW |
3 |
138,069,916 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9250:1110002E22Rik
|
UTSW |
3 |
138,066,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9291:1110002E22Rik
|
UTSW |
3 |
138,066,703 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9293:1110002E22Rik
|
UTSW |
3 |
138,066,078 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9307:1110002E22Rik
|
UTSW |
3 |
138,065,422 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9439:1110002E22Rik
|
UTSW |
3 |
138,066,287 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9509:1110002E22Rik
|
UTSW |
3 |
138,065,834 (GRCm38) |
small deletion |
probably benign |
|
|
R9582:1110002E22Rik
|
UTSW |
3 |
138,067,005 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9599:1110002E22Rik
|
UTSW |
3 |
138,068,506 (GRCm38) |
missense |
probably benign |
0.16 |
|
R9613:1110002E22Rik
|
UTSW |
3 |
138,065,365 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9670:1110002E22Rik
|
UTSW |
3 |
138,065,133 (GRCm38) |
missense |
probably benign |
|
|
X0003:1110002E22Rik
|
UTSW |
3 |
138,069,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAAGGATCTCAGGTCAGTG -3'
(R):5'- TGAGAAGTCATGGGCACATC -3'
Sequencing Primer
(F):5'- ATCTCAGGTCAGTGGAACCAGC -3'
(R):5'- ATGGGCACATCCACGTATTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation