Incidental Mutation 'R8181:1110002E22Rik'
ID |
634601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1110002E22Rik
|
Ensembl Gene |
ENSMUSG00000090066 |
Gene Name |
RIKEN cDNA 1110002E22 gene |
Synonyms |
|
MMRRC Submission |
067605-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.431)
|
Stock # |
R8181 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
137770813-137787267 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 137774156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 1115
(S1115N)
|
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: S1115N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123851 Gene: ENSMUSG00000090066 AA Change: S1115N
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: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (73/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,059,303 (GRCm39) |
V1551A |
probably benign |
Het |
Adam30 |
T |
C |
3: 98,070,291 (GRCm39) |
I708T |
probably benign |
Het |
Aknad1 |
T |
A |
3: 108,659,328 (GRCm39) |
L114H |
possibly damaging |
Het |
Akr1c18 |
G |
A |
13: 4,185,262 (GRCm39) |
S290L |
probably benign |
Het |
Aldh18a1 |
G |
T |
19: 40,545,881 (GRCm39) |
D635E |
probably benign |
Het |
Bax |
G |
T |
7: 45,115,698 (GRCm39) |
P23Q |
probably null |
Het |
Bhlha15 |
A |
T |
5: 144,128,244 (GRCm39) |
N119Y |
probably damaging |
Het |
Boll |
T |
A |
1: 55,402,478 (GRCm39) |
M1L |
probably benign |
Het |
C2cd2 |
A |
T |
16: 97,693,502 (GRCm39) |
I123N |
probably benign |
Het |
Cacnb4 |
A |
C |
2: 52,364,997 (GRCm39) |
S89A |
probably benign |
Het |
Calca |
A |
G |
7: 114,234,387 (GRCm39) |
C21R |
probably benign |
Het |
Calcr |
T |
C |
6: 3,693,899 (GRCm39) |
I325M |
probably benign |
Het |
Card14 |
T |
A |
11: 119,212,718 (GRCm39) |
F94Y |
probably damaging |
Het |
Chil3 |
A |
C |
3: 106,057,203 (GRCm39) |
I247S |
probably damaging |
Het |
Clca3b |
T |
C |
3: 144,544,898 (GRCm39) |
N363S |
probably benign |
Het |
Cnksr3 |
A |
G |
10: 7,070,475 (GRCm39) |
V494A |
possibly damaging |
Het |
Cog4 |
A |
G |
8: 111,578,717 (GRCm39) |
|
probably null |
Het |
Crybg1 |
T |
A |
10: 43,862,322 (GRCm39) |
Y1484F |
probably damaging |
Het |
Dglucy |
A |
G |
12: 100,816,370 (GRCm39) |
|
probably null |
Het |
Dmp1 |
T |
A |
5: 104,359,380 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
T |
A |
9: 45,658,140 (GRCm39) |
I1637N |
possibly damaging |
Het |
Ercc6 |
T |
A |
14: 32,279,905 (GRCm39) |
I640N |
probably damaging |
Het |
Esp16 |
G |
T |
17: 39,850,707 (GRCm39) |
E29* |
probably null |
Het |
Fam149a |
T |
C |
8: 45,834,755 (GRCm39) |
I15V |
possibly damaging |
Het |
Flt4 |
T |
A |
11: 49,525,723 (GRCm39) |
I724N |
probably damaging |
Het |
Glb1 |
C |
T |
9: 114,259,429 (GRCm39) |
R202C |
probably damaging |
Het |
Gmpr2 |
C |
A |
14: 55,910,441 (GRCm39) |
S41* |
probably null |
Het |
Golgb1 |
T |
A |
16: 36,737,192 (GRCm39) |
D2187E |
probably damaging |
Het |
Gpsm2 |
A |
G |
3: 108,597,080 (GRCm39) |
|
probably null |
Het |
Helz |
A |
G |
11: 107,563,399 (GRCm39) |
D1613G |
unknown |
Het |
Hemgn |
A |
C |
4: 46,396,504 (GRCm39) |
M244R |
possibly damaging |
Het |
Hsd3b1 |
A |
T |
3: 98,763,453 (GRCm39) |
V56E |
probably damaging |
Het |
Jup |
A |
T |
11: 100,267,751 (GRCm39) |
I524N |
probably damaging |
Het |
Kdm1b |
G |
T |
13: 47,205,377 (GRCm39) |
|
probably null |
Het |
Kif11 |
A |
T |
19: 37,379,095 (GRCm39) |
|
probably null |
Het |
Lars1 |
A |
T |
18: 42,361,835 (GRCm39) |
W591R |
probably damaging |
Het |
Lrtm1 |
T |
A |
14: 28,743,894 (GRCm39) |
S121T |
probably damaging |
Het |
Med12l |
A |
C |
3: 59,169,389 (GRCm39) |
D1593A |
probably damaging |
Het |
Med17 |
A |
T |
9: 15,188,928 (GRCm39) |
D112E |
possibly damaging |
Het |
Mettl2 |
T |
A |
11: 105,019,866 (GRCm39) |
F168I |
probably benign |
Het |
Mmp9 |
A |
T |
2: 164,792,365 (GRCm39) |
D323V |
probably damaging |
Het |
Mpzl2 |
C |
T |
9: 44,961,006 (GRCm39) |
T214I |
probably benign |
Het |
Ms4a15 |
T |
C |
19: 10,958,670 (GRCm39) |
H134R |
probably benign |
Het |
Ms4a6d |
T |
A |
19: 11,580,653 (GRCm39) |
I2F |
probably damaging |
Het |
Muc3a |
G |
A |
5: 137,244,535 (GRCm39) |
P206S |
unknown |
Het |
Nectin2 |
C |
A |
7: 19,458,733 (GRCm39) |
L359F |
probably damaging |
Het |
Or2y6 |
C |
A |
11: 52,104,096 (GRCm39) |
C240F |
probably damaging |
Het |
Or4f53 |
T |
A |
2: 111,087,918 (GRCm39) |
F153I |
probably benign |
Het |
Pgm2 |
G |
T |
5: 64,269,467 (GRCm39) |
C518F |
possibly damaging |
Het |
Plppr4 |
A |
G |
3: 117,116,114 (GRCm39) |
V581A |
probably damaging |
Het |
Prkra |
G |
C |
2: 76,469,634 (GRCm39) |
L142V |
probably damaging |
Het |
Prpf38a |
G |
A |
4: 108,434,195 (GRCm39) |
T74I |
probably benign |
Het |
Ptprs |
T |
A |
17: 56,736,064 (GRCm39) |
N635I |
probably damaging |
Het |
Rxfp2 |
A |
G |
5: 149,987,201 (GRCm39) |
N361D |
probably benign |
Het |
Ryr3 |
T |
G |
2: 112,608,588 (GRCm39) |
I2351L |
probably damaging |
Het |
Sfmbt2 |
A |
T |
2: 10,580,190 (GRCm39) |
T618S |
probably benign |
Het |
Six6 |
A |
G |
12: 72,986,906 (GRCm39) |
D26G |
probably damaging |
Het |
Slc20a1 |
T |
C |
2: 129,051,047 (GRCm39) |
L568P |
probably damaging |
Het |
Slx4ip |
T |
A |
2: 136,842,104 (GRCm39) |
C10S |
probably damaging |
Het |
Sox13 |
G |
T |
1: 133,311,498 (GRCm39) |
T578K |
probably benign |
Het |
Spire2 |
A |
T |
8: 124,088,042 (GRCm39) |
S509C |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,074,808 (GRCm39) |
D1521G |
possibly damaging |
Het |
Sult2a7 |
T |
C |
7: 14,204,098 (GRCm39) |
T207A |
probably benign |
Het |
Sun2 |
A |
G |
15: 79,609,721 (GRCm39) |
I708T |
probably damaging |
Het |
Supt5 |
T |
C |
7: 28,030,899 (GRCm39) |
E44G |
unknown |
Het |
Thsd1 |
A |
G |
8: 22,733,022 (GRCm39) |
E23G |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,310,728 (GRCm39) |
V214A |
possibly damaging |
Het |
Vmn2r74 |
A |
T |
7: 85,605,324 (GRCm39) |
F441L |
probably damaging |
Het |
Zfp30 |
A |
G |
7: 29,493,080 (GRCm39) |
T526A |
probably benign |
Het |
Zfp518a |
G |
T |
19: 40,902,415 (GRCm39) |
Q781H |
probably damaging |
Het |
Zmynd11 |
A |
G |
13: 9,739,687 (GRCm39) |
V434A |
probably benign |
Het |
Zranb1 |
A |
G |
7: 132,585,508 (GRCm39) |
D652G |
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 |
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 |
R8754:1110002E22Rik
|
UTSW |
3 |
137,771,798 (GRCm39) |
missense |
probably benign |
|
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'- ATTGAGGATAACAGCAGAACCC -3'
(R):5'- GATGCCCTGTGAACCAAGAC -3'
Sequencing Primer
(F):5'- CAGCAGAAACTCTTCCGTGGTG -3'
(R):5'- GAGTTCAAGAGTCTACCGCCATTG -3'
|
Posted On |
2020-07-13 |