Incidental Mutation 'R9177:1110002E22Rik'
| ID |
696733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1110002E22Rik
|
| Ensembl Gene |
ENSMUSG00000090066 |
| Gene Name |
RIKEN cDNA 1110002E22 gene |
| Synonyms |
|
| MMRRC Submission |
068949-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R9177 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
137770813-137787267 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137775677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1622
(V1622D)
|
| 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: V1622D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: V1622D
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
C |
T |
7: 131,033,763 (GRCm39) |
T260I |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,955,392 (GRCm39) |
V161E |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,181,190 (GRCm39) |
T1367A |
probably damaging |
Het |
| Atg2a |
A |
C |
19: 6,291,905 (GRCm39) |
H27P |
probably damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,336,858 (GRCm39) |
|
probably null |
Het |
| C1s1 |
T |
G |
6: 124,508,362 (GRCm39) |
K542N |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,303,901 (GRCm39) |
S351P |
probably benign |
Het |
| Carf |
C |
A |
1: 60,148,558 (GRCm39) |
Q85K |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,698,683 (GRCm39) |
N43S |
probably damaging |
Het |
| Cd40 |
T |
C |
2: 164,905,465 (GRCm39) |
C161R |
probably damaging |
Het |
| Cdh19 |
A |
G |
1: 110,877,111 (GRCm39) |
F76S |
probably damaging |
Het |
| Cdkl1 |
T |
C |
12: 69,794,100 (GRCm39) |
N346D |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,381,230 (GRCm39) |
D540G |
probably benign |
Het |
| Cep164 |
T |
A |
9: 45,691,060 (GRCm39) |
E379V |
probably damaging |
Het |
| Clock |
T |
C |
5: 76,377,256 (GRCm39) |
N681S |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
G |
9: 105,808,152 (GRCm39) |
K965N |
unknown |
Het |
| Dctn4 |
T |
A |
18: 60,659,304 (GRCm39) |
M1K |
probably null |
Het |
| Dhx30 |
T |
C |
9: 109,915,750 (GRCm39) |
D741G |
probably damaging |
Het |
| Dhx37 |
A |
G |
5: 125,507,958 (GRCm39) |
V104A |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,571,255 (GRCm39) |
K2788R |
possibly damaging |
Het |
| Egfr |
T |
A |
11: 16,855,410 (GRCm39) |
D898E |
probably damaging |
Het |
| Eif2ak4 |
G |
C |
2: 118,271,701 (GRCm39) |
|
probably null |
Het |
| Eif6 |
A |
G |
2: 155,665,852 (GRCm39) |
L101P |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,896,419 (GRCm39) |
V566E |
probably damaging |
Het |
| Far2 |
C |
T |
6: 148,060,418 (GRCm39) |
T257I |
probably benign |
Het |
| Fuca2 |
G |
A |
10: 13,390,563 (GRCm39) |
W453* |
probably null |
Het |
| Galntl6 |
A |
T |
8: 58,310,590 (GRCm39) |
Y370* |
probably null |
Het |
| Gcn1 |
T |
C |
5: 115,719,867 (GRCm39) |
V374A |
probably benign |
Het |
| Hjv |
T |
C |
3: 96,435,881 (GRCm39) |
F380L |
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,591,361 (GRCm39) |
D94G |
probably damaging |
Het |
| Ifi202b |
A |
T |
1: 173,804,949 (GRCm39) |
M1K |
probably null |
Het |
| Lama4 |
A |
G |
10: 38,950,688 (GRCm39) |
Y997C |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,602,798 (GRCm39) |
C195* |
probably null |
Het |
| Lrrc37 |
T |
A |
11: 103,508,263 (GRCm39) |
H1235L |
unknown |
Het |
| Lrrc73 |
T |
C |
17: 46,565,535 (GRCm39) |
S89P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,582 (GRCm39) |
E2393G |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,517,481 (GRCm39) |
T118S |
possibly damaging |
Het |
| Msantd5f3 |
T |
C |
4: 73,575,373 (GRCm39) |
S351P |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,234,949 (GRCm39) |
K124R |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,399,075 (GRCm39) |
Y339H |
unknown |
Het |
| Nes |
G |
A |
3: 87,887,012 (GRCm39) |
G1757E |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,064,685 (GRCm39) |
I391F |
probably damaging |
Het |
| Nup93 |
A |
T |
8: 94,954,371 (GRCm39) |
I23F |
probably benign |
Het |
| Or4a27 |
A |
C |
2: 88,559,174 (GRCm39) |
Y256* |
probably null |
Het |
| Or5h17 |
T |
G |
16: 58,820,083 (GRCm39) |
F12V |
probably damaging |
Het |
| Or6y1 |
A |
C |
1: 174,276,923 (GRCm39) |
T245P |
probably damaging |
Het |
| Or7g16 |
G |
T |
9: 18,726,742 (GRCm39) |
Q283K |
probably damaging |
Het |
| Or9i14 |
A |
T |
19: 13,792,388 (GRCm39) |
C189S |
probably damaging |
Het |
| Pak5 |
A |
C |
2: 135,943,126 (GRCm39) |
M338R |
probably benign |
Het |
| Papola |
A |
G |
12: 105,766,032 (GRCm39) |
E44G |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,455 (GRCm39) |
E522V |
probably benign |
Het |
| Peli2 |
A |
G |
14: 48,518,927 (GRCm39) |
E225G |
probably benign |
Het |
| Pla2g1b |
T |
G |
5: 115,612,595 (GRCm39) |
I117S |
probably damaging |
Het |
| Plxnd1 |
G |
T |
6: 115,943,469 (GRCm39) |
Q1246K |
probably benign |
Het |
| Pole |
A |
G |
5: 110,480,288 (GRCm39) |
E1953G |
probably benign |
Het |
| Pus7l |
T |
C |
15: 94,431,445 (GRCm39) |
I395V |
probably benign |
Het |
| Shisa7 |
T |
G |
7: 4,837,333 (GRCm39) |
D244A |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,952,946 (GRCm39) |
T538A |
probably benign |
Het |
| Syk |
T |
A |
13: 52,766,480 (GRCm39) |
N188K |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,740,705 (GRCm39) |
S249P |
probably benign |
Het |
| Tmem25 |
T |
C |
9: 44,709,529 (GRCm39) |
T91A |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,221,579 (GRCm39) |
V2772A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,596,447 (GRCm39) |
Y20155* |
probably null |
Het |
| Uchl4 |
C |
T |
9: 64,142,986 (GRCm39) |
H156Y |
probably benign |
Het |
| Ulbp1 |
A |
T |
10: 7,396,392 (GRCm39) |
L295Q |
unknown |
Het |
| Vwf |
G |
A |
6: 125,581,254 (GRCm39) |
A631T |
|
Het |
| Zfp810 |
C |
T |
9: 22,189,936 (GRCm39) |
C324Y |
probably damaging |
Het |
| Zswim8 |
T |
C |
14: 20,761,908 (GRCm39) |
L227P |
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 |
|
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 |
|
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'- CCACCGAGAAACAGTCGTTG -3'
(R):5'- CACTGTGGGCAGAAATCCAG -3'
Sequencing Primer
(F):5'- TGTCTACCACCAGCAGGCATTG -3'
(R):5'- TCCAGGATAGATCATGTAGGTGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation