Incidental Mutation 'R6430:AI661453'
| ID |
518503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AI661453
|
| Ensembl Gene |
ENSMUSG00000034382 |
| Gene Name |
expressed sequence AI661453 |
| Synonyms |
|
| MMRRC Submission |
044568-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6430 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47747564-47781563 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 47777722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037701]
[ENSMUST00000150819]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037701
|
| SMART Domains |
Protein: ENSMUSP00000045345
Gene: ENSMUSG00000034382
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150819
AA Change: L483I
|
| SMART Domains |
Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382
AA Change: L483I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
627 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
628 |
654 |
6.24e-9 |
PROSPERO |
|
low complexity region
|
656 |
671 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
688 |
714 |
6.24e-9 |
PROSPERO |
|
low complexity region
|
853 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
976 |
1016 |
N/A |
INTRINSIC |
|
low complexity region
|
1147 |
1154 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0850 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
| Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
| Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
| B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
| Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
| Cdyl |
A |
G |
13: 36,055,589 (GRCm39) |
K503R |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,713,650 (GRCm39) |
M225K |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
| Espnl |
T |
C |
1: 91,249,970 (GRCm39) |
L39P |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,748 (GRCm39) |
V915A |
probably benign |
Het |
| Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
| Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
| Kcng4 |
A |
G |
8: 120,359,789 (GRCm39) |
S196P |
probably damaging |
Het |
| Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
| Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Man2c1 |
T |
C |
9: 57,038,517 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
| Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
| Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,306,261 (GRCm39) |
E603G |
probably benign |
Het |
| Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
| Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
| Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
| Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,083 (GRCm39) |
I195V |
probably benign |
Het |
| Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
| Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
| Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
Het |
| Zmynd10 |
A |
T |
9: 107,425,911 (GRCm39) |
K82* |
probably null |
Het |
|
| Other mutations in AI661453 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01758:AI661453
|
APN |
17 |
47,777,548 (GRCm39) |
intron |
probably benign |
|
|
IGL01995:AI661453
|
APN |
17 |
47,779,442 (GRCm39) |
intron |
probably benign |
|
|
IGL02171:AI661453
|
APN |
17 |
47,777,921 (GRCm39) |
intron |
probably benign |
|
|
IGL02411:AI661453
|
APN |
17 |
47,778,263 (GRCm39) |
intron |
probably benign |
|
|
IGL02422:AI661453
|
APN |
17 |
47,778,017 (GRCm39) |
intron |
probably benign |
|
|
IGL02609:AI661453
|
APN |
17 |
47,779,297 (GRCm39) |
intron |
probably benign |
|
|
IGL02888:AI661453
|
APN |
17 |
47,778,329 (GRCm39) |
intron |
probably benign |
|
|
IGL03024:AI661453
|
APN |
17 |
47,757,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:AI661453
|
UTSW |
17 |
47,780,287 (GRCm39) |
intron |
probably benign |
|
|
R0092:AI661453
|
UTSW |
17 |
47,778,440 (GRCm39) |
intron |
probably benign |
|
|
R0144:AI661453
|
UTSW |
17 |
47,780,224 (GRCm39) |
intron |
probably benign |
|
|
R0330:AI661453
|
UTSW |
17 |
47,757,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:AI661453
|
UTSW |
17 |
47,777,999 (GRCm39) |
intron |
probably benign |
|
|
R0839:AI661453
|
UTSW |
17 |
47,747,752 (GRCm39) |
missense |
probably null |
0.97 |
|
R1350:AI661453
|
UTSW |
17 |
47,778,853 (GRCm39) |
nonsense |
probably null |
|
|
R1436:AI661453
|
UTSW |
17 |
47,777,627 (GRCm39) |
intron |
probably benign |
|
|
R1439:AI661453
|
UTSW |
17 |
47,777,587 (GRCm39) |
intron |
probably benign |
|
|
R1643:AI661453
|
UTSW |
17 |
47,778,791 (GRCm39) |
intron |
probably benign |
|
|
R1994:AI661453
|
UTSW |
17 |
47,777,959 (GRCm39) |
intron |
probably benign |
|
|
R2145:AI661453
|
UTSW |
17 |
47,777,023 (GRCm39) |
intron |
probably benign |
|
|
R2986:AI661453
|
UTSW |
17 |
47,777,697 (GRCm39) |
nonsense |
probably null |
|
|
R4398:AI661453
|
UTSW |
17 |
47,779,042 (GRCm39) |
intron |
probably benign |
|
|
R4809:AI661453
|
UTSW |
17 |
47,778,112 (GRCm39) |
intron |
probably benign |
|
|
R4913:AI661453
|
UTSW |
17 |
47,779,480 (GRCm39) |
nonsense |
probably null |
|
|
R4972:AI661453
|
UTSW |
17 |
47,777,324 (GRCm39) |
intron |
probably benign |
|
|
R6687:AI661453
|
UTSW |
17 |
47,777,927 (GRCm39) |
intron |
probably benign |
|
|
R7494:AI661453
|
UTSW |
17 |
47,779,105 (GRCm39) |
missense |
unknown |
|
|
R7598:AI661453
|
UTSW |
17 |
47,777,045 (GRCm39) |
missense |
unknown |
|
|
R7635:AI661453
|
UTSW |
17 |
47,778,676 (GRCm39) |
missense |
unknown |
|
|
R7753:AI661453
|
UTSW |
17 |
47,778,439 (GRCm39) |
nonsense |
probably null |
|
|
R7920:AI661453
|
UTSW |
17 |
47,779,331 (GRCm39) |
missense |
unknown |
|
|
R7974:AI661453
|
UTSW |
17 |
47,777,006 (GRCm39) |
missense |
unknown |
|
|
R8022:AI661453
|
UTSW |
17 |
47,777,161 (GRCm39) |
missense |
unknown |
|
|
R8489:AI661453
|
UTSW |
17 |
47,777,254 (GRCm39) |
intron |
probably benign |
|
|
R8771:AI661453
|
UTSW |
17 |
47,777,683 (GRCm39) |
missense |
unknown |
|
|
R9316:AI661453
|
UTSW |
17 |
47,747,832 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9596:AI661453
|
UTSW |
17 |
47,780,411 (GRCm39) |
missense |
unknown |
|
|
R9743:AI661453
|
UTSW |
17 |
47,780,240 (GRCm39) |
missense |
unknown |
|
|
R9766:AI661453
|
UTSW |
17 |
47,757,570 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGATTTATGAAGACCTCCAAATC -3'
(R):5'- TCTAGCTCACTCCGGATCTG -3'
Sequencing Primer
(F):5'- TTTATGAAGACCTCCAAATCCAACTC -3'
(R):5'- TATCCTGGGCAATGTAGTCCACAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation