Incidental Mutation 'R8754:1110002E22Rik'
| ID |
664020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1110002E22Rik
|
| Ensembl Gene |
ENSMUSG00000090066 |
| Gene Name |
RIKEN cDNA 1110002E22 gene |
| Synonyms |
|
| MMRRC Submission |
068620-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R8754 (G1)
|
| Quality Score |
215.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137770813-137787267 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137771798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 329
(V329A)
|
| 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 benign
Transcript: ENSMUST00000163080
AA Change: V329A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: V329A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
T |
1: 11,615,472 (GRCm39) |
K148N |
probably benign |
Het |
| Actn3 |
A |
G |
19: 4,913,488 (GRCm39) |
F648L |
probably damaging |
Het |
| Amotl2 |
A |
G |
9: 102,597,358 (GRCm39) |
D39G |
possibly damaging |
Het |
| Anks1 |
C |
A |
17: 28,214,984 (GRCm39) |
T477K |
possibly damaging |
Het |
| Brix1 |
A |
T |
15: 10,476,664 (GRCm39) |
S271T |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Chrna6 |
T |
C |
8: 27,897,229 (GRCm39) |
H216R |
probably damaging |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Copa |
C |
T |
1: 171,935,926 (GRCm39) |
R423W |
probably damaging |
Het |
| Cttnbp2 |
A |
C |
6: 18,434,037 (GRCm39) |
I607R |
possibly damaging |
Het |
| Depdc5 |
A |
T |
5: 33,136,881 (GRCm39) |
T1384S |
probably benign |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dusp26 |
C |
T |
8: 31,581,805 (GRCm39) |
|
probably benign |
Het |
| Eif1ad13 |
T |
A |
12: 87,762,569 (GRCm39) |
N96K |
possibly damaging |
Het |
| Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
| Fuca1 |
T |
C |
4: 135,652,889 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,581,693 (GRCm39) |
V391I |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
A |
13: 12,428,175 (GRCm39) |
Y771N |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,417 (GRCm39) |
T523A |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,865 (GRCm39) |
Q58* |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 941,594 (GRCm39) |
V1265A |
probably damaging |
Het |
| Kifc3 |
A |
T |
8: 95,829,024 (GRCm39) |
L726Q |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 43,755,912 (GRCm39) |
I247N |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,897,115 (GRCm39) |
N159K |
probably benign |
Het |
| Krtap4-7 |
G |
T |
11: 99,534,667 (GRCm39) |
C65* |
probably null |
Het |
| Lama2 |
C |
T |
10: 26,877,147 (GRCm39) |
V2680M |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,088,007 (GRCm39) |
M61L |
probably benign |
Het |
| Med17 |
A |
G |
9: 15,188,896 (GRCm39) |
M123T |
possibly damaging |
Het |
| Mrpl37 |
T |
C |
4: 106,921,611 (GRCm39) |
N206S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,602,356 (GRCm39) |
N1390Y |
|
Het |
| Muc5ac |
C |
T |
7: 141,354,008 (GRCm39) |
A869V |
possibly damaging |
Het |
| Nckap5l |
A |
G |
15: 99,327,290 (GRCm39) |
V133A |
probably benign |
Het |
| Nin |
A |
T |
12: 70,077,787 (GRCm39) |
|
probably benign |
Het |
| Nr1h2 |
C |
T |
7: 44,200,768 (GRCm39) |
A287T |
probably damaging |
Het |
| Or8c16 |
A |
T |
9: 38,130,865 (GRCm39) |
I246L |
possibly damaging |
Het |
| Patl1 |
A |
G |
19: 11,899,898 (GRCm39) |
E230G |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,355,235 (GRCm39) |
S585P |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,015,278 (GRCm39) |
W165R |
possibly damaging |
Het |
| Pdia4 |
A |
C |
6: 47,773,464 (GRCm39) |
D628E |
probably benign |
Het |
| Pigo |
T |
A |
4: 43,024,724 (GRCm39) |
H125L |
probably benign |
Het |
| Platr25 |
A |
T |
13: 62,847,924 (GRCm39) |
*313K |
probably null |
Het |
| Plxdc1 |
A |
T |
11: 97,846,337 (GRCm39) |
M169K |
possibly damaging |
Het |
| Pxk |
T |
C |
14: 8,151,496 (GRCm38) |
I437T |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,004,010 (GRCm39) |
T1767A |
possibly damaging |
Het |
| Rnf123 |
T |
A |
9: 107,948,363 (GRCm39) |
D110V |
probably damaging |
Het |
| Rnf185 |
A |
T |
11: 3,368,052 (GRCm39) |
F209I |
probably benign |
Het |
| Rpl4 |
A |
T |
9: 64,082,242 (GRCm39) |
N47I |
probably damaging |
Het |
| Rsl1d1 |
A |
T |
16: 11,017,512 (GRCm39) |
F151L |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,603,191 (GRCm39) |
|
probably null |
Het |
| Serhl |
A |
G |
15: 82,986,126 (GRCm39) |
N80D |
probably benign |
Het |
| Sh3tc1 |
C |
A |
5: 35,863,802 (GRCm39) |
R795L |
probably benign |
Het |
| Slc2a12 |
A |
T |
10: 22,521,116 (GRCm39) |
T7S |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,068,005 (GRCm39) |
Y834C |
probably damaging |
Het |
| Ss18 |
G |
C |
18: 14,774,016 (GRCm39) |
Q258E |
probably damaging |
Het |
| Telo2 |
G |
A |
17: 25,321,041 (GRCm39) |
L725F |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,934,882 (GRCm39) |
E2497G |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,163,360 (GRCm39) |
D111G |
|
Het |
| Trim16 |
G |
A |
11: 62,731,763 (GRCm39) |
E545K |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,664,623 (GRCm39) |
W919R |
probably damaging |
Het |
| Ttbk1 |
G |
T |
17: 46,756,127 (GRCm39) |
S1301* |
probably null |
Het |
| Txk |
T |
C |
5: 72,889,122 (GRCm39) |
N144S |
probably damaging |
Het |
| Ubqln4 |
T |
A |
3: 88,473,090 (GRCm39) |
V515E |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,581,162 (GRCm39) |
R3681* |
probably null |
Het |
| Ythdf3 |
A |
T |
3: 16,258,138 (GRCm39) |
N106I |
probably damaging |
Het |
| Zfp367 |
A |
T |
13: 64,292,069 (GRCm39) |
C187* |
probably null |
Het |
| Zfp735 |
A |
G |
11: 73,603,000 (GRCm39) |
D648G |
possibly damaging |
Het |
| Zic1 |
T |
C |
9: 91,244,701 (GRCm39) |
|
probably benign |
Het |
| Zik1 |
A |
G |
7: 10,223,826 (GRCm39) |
S424P |
probably damaging |
Het |
|
| Other mutations in 1110002E22Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0026:1110002E22Rik
|
UTSW |
3 |
137,772,566 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0047:1110002E22Rik
|
UTSW |
3 |
137,772,025 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0047:1110002E22Rik
|
UTSW |
3 |
137,772,025 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0102:1110002E22Rik
|
UTSW |
3 |
137,773,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:1110002E22Rik
|
UTSW |
3 |
137,773,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:1110002E22Rik
|
UTSW |
3 |
137,775,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:1110002E22Rik
|
UTSW |
3 |
137,771,595 (GRCm39) |
small deletion |
probably benign |
|
|
R0394:1110002E22Rik
|
UTSW |
3 |
137,773,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0401:1110002E22Rik
|
UTSW |
3 |
137,776,067 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0496:1110002E22Rik
|
UTSW |
3 |
137,774,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:1110002E22Rik
|
UTSW |
3 |
137,774,704 (GRCm39) |
nonsense |
probably null |
|
|
R0711:1110002E22Rik
|
UTSW |
3 |
137,773,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0883:1110002E22Rik
|
UTSW |
3 |
137,775,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0908:1110002E22Rik
|
UTSW |
3 |
137,775,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0968:1110002E22Rik
|
UTSW |
3 |
137,772,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1023:1110002E22Rik
|
UTSW |
3 |
137,772,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:1110002E22Rik
|
UTSW |
3 |
137,773,661 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1472:1110002E22Rik
|
UTSW |
3 |
137,773,313 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1538:1110002E22Rik
|
UTSW |
3 |
137,771,162 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1648:1110002E22Rik
|
UTSW |
3 |
137,775,181 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1800:1110002E22Rik
|
UTSW |
3 |
137,772,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:1110002E22Rik
|
UTSW |
3 |
137,773,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1974:1110002E22Rik
|
UTSW |
3 |
137,773,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:1110002E22Rik
|
UTSW |
3 |
137,771,419 (GRCm39) |
nonsense |
probably null |
|
|
R1991:1110002E22Rik
|
UTSW |
3 |
137,771,419 (GRCm39) |
nonsense |
probably null |
|
|
R2102:1110002E22Rik
|
UTSW |
3 |
137,770,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2761:1110002E22Rik
|
UTSW |
3 |
137,773,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2899:1110002E22Rik
|
UTSW |
3 |
137,771,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3618:1110002E22Rik
|
UTSW |
3 |
137,774,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3904:1110002E22Rik
|
UTSW |
3 |
137,772,400 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3955:1110002E22Rik
|
UTSW |
3 |
137,773,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4520:1110002E22Rik
|
UTSW |
3 |
137,776,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4619:1110002E22Rik
|
UTSW |
3 |
137,775,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4736:1110002E22Rik
|
UTSW |
3 |
137,774,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4752:1110002E22Rik
|
UTSW |
3 |
137,775,751 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4777:1110002E22Rik
|
UTSW |
3 |
137,771,503 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4780:1110002E22Rik
|
UTSW |
3 |
137,771,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4824:1110002E22Rik
|
UTSW |
3 |
137,771,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4829:1110002E22Rik
|
UTSW |
3 |
137,774,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4965:1110002E22Rik
|
UTSW |
3 |
137,775,433 (GRCm39) |
missense |
probably benign |
|
|
R5206:1110002E22Rik
|
UTSW |
3 |
137,772,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5212:1110002E22Rik
|
UTSW |
3 |
137,771,611 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5373:1110002E22Rik
|
UTSW |
3 |
137,773,396 (GRCm39) |
missense |
probably benign |
|
|
R5374:1110002E22Rik
|
UTSW |
3 |
137,773,396 (GRCm39) |
missense |
probably benign |
|
|
R5506:1110002E22Rik
|
UTSW |
3 |
137,773,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5528:1110002E22Rik
|
UTSW |
3 |
137,772,260 (GRCm39) |
missense |
probably benign |
|
|
R5536:1110002E22Rik
|
UTSW |
3 |
137,772,149 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5587:1110002E22Rik
|
UTSW |
3 |
137,771,170 (GRCm39) |
missense |
probably benign |
|
|
R5759:1110002E22Rik
|
UTSW |
3 |
137,774,419 (GRCm39) |
missense |
probably benign |
|
|
R5933:1110002E22Rik
|
UTSW |
3 |
137,776,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:1110002E22Rik
|
UTSW |
3 |
137,775,922 (GRCm39) |
missense |
probably benign |
|
|
R6092:1110002E22Rik
|
UTSW |
3 |
137,774,701 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6305:1110002E22Rik
|
UTSW |
3 |
137,773,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6457:1110002E22Rik
|
UTSW |
3 |
137,772,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:1110002E22Rik
|
UTSW |
3 |
137,772,736 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6499:1110002E22Rik
|
UTSW |
3 |
137,774,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6527:1110002E22Rik
|
UTSW |
3 |
137,773,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6580:1110002E22Rik
|
UTSW |
3 |
137,772,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6693:1110002E22Rik
|
UTSW |
3 |
137,774,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6751:1110002E22Rik
|
UTSW |
3 |
137,771,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:1110002E22Rik
|
UTSW |
3 |
137,770,930 (GRCm39) |
nonsense |
probably null |
|
|
R6920:1110002E22Rik
|
UTSW |
3 |
137,773,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:1110002E22Rik
|
UTSW |
3 |
137,771,272 (GRCm39) |
missense |
probably benign |
|
|
R7145:1110002E22Rik
|
UTSW |
3 |
137,775,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:1110002E22Rik
|
UTSW |
3 |
137,775,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7278:1110002E22Rik
|
UTSW |
3 |
137,771,237 (GRCm39) |
missense |
probably benign |
|
|
R7425:1110002E22Rik
|
UTSW |
3 |
137,771,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7487:1110002E22Rik
|
UTSW |
3 |
137,772,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:1110002E22Rik
|
UTSW |
3 |
137,774,044 (GRCm39) |
nonsense |
probably null |
|
|
R7663:1110002E22Rik
|
UTSW |
3 |
137,771,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7743:1110002E22Rik
|
UTSW |
3 |
137,774,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7799:1110002E22Rik
|
UTSW |
3 |
137,775,362 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8181:1110002E22Rik
|
UTSW |
3 |
137,774,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8264:1110002E22Rik
|
UTSW |
3 |
137,773,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8273:1110002E22Rik
|
UTSW |
3 |
137,772,211 (GRCm39) |
missense |
probably benign |
|
|
R8434:1110002E22Rik
|
UTSW |
3 |
137,773,021 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8530:1110002E22Rik
|
UTSW |
3 |
137,774,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8808:1110002E22Rik
|
UTSW |
3 |
137,775,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8891:1110002E22Rik
|
UTSW |
3 |
137,772,520 (GRCm39) |
nonsense |
probably null |
|
|
R9026:1110002E22Rik
|
UTSW |
3 |
137,770,909 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9177:1110002E22Rik
|
UTSW |
3 |
137,775,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:1110002E22Rik
|
UTSW |
3 |
137,772,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9291:1110002E22Rik
|
UTSW |
3 |
137,772,464 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9293:1110002E22Rik
|
UTSW |
3 |
137,771,839 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9307:1110002E22Rik
|
UTSW |
3 |
137,771,183 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9439:1110002E22Rik
|
UTSW |
3 |
137,772,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9509:1110002E22Rik
|
UTSW |
3 |
137,771,595 (GRCm39) |
small deletion |
probably benign |
|
|
R9582:1110002E22Rik
|
UTSW |
3 |
137,772,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9599:1110002E22Rik
|
UTSW |
3 |
137,774,267 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9613:1110002E22Rik
|
UTSW |
3 |
137,771,126 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9670:1110002E22Rik
|
UTSW |
3 |
137,770,894 (GRCm39) |
missense |
probably benign |
|
|
X0003:1110002E22Rik
|
UTSW |
3 |
137,774,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCAGAAGACAATGGCCTTTC -3'
(R):5'- GGTCTCATCACTGCCACCAAAG -3'
Sequencing Primer
(F):5'- TCCAAAATGGACGATCCCAC -3'
(R):5'- GTCCACGAATGAATAGATCACGTTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation