Incidental Mutation 'IGL02335:Gpatch2l'
| ID |
289716 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpatch2l
|
| Ensembl Gene |
ENSMUSG00000021254 |
| Gene Name |
G patch domain containing 2 like |
| Synonyms |
1700020O03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
86288632-86338558 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 86303711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071106]
[ENSMUST00000221368]
|
| AlphaFold |
Q6PE65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071106
|
| SMART Domains |
Protein: ENSMUSP00000065858
Gene: ENSMUSG00000021254
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220810
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222299
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
T |
9: 99,502,266 (GRCm39) |
T142I |
probably benign |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,651,026 (GRCm39) |
M49I |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,105,084 (GRCm39) |
T147A |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,685 (GRCm39) |
D397G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,625,654 (GRCm39) |
T1597M |
possibly damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,755 (GRCm39) |
T94A |
possibly damaging |
Het |
| Cd22 |
A |
G |
7: 30,575,559 (GRCm39) |
I161T |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,365,821 (GRCm39) |
L166F |
probably benign |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,327,165 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,661,300 (GRCm39) |
V270M |
probably damaging |
Het |
| Cox8b |
C |
A |
7: 140,478,990 (GRCm39) |
G42W |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,828,704 (GRCm39) |
D275V |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,432,645 (GRCm39) |
|
probably null |
Het |
| Dctn2 |
T |
C |
10: 127,111,690 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,604 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,164,988 (GRCm39) |
E687G |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,052,377 (GRCm39) |
K249E |
possibly damaging |
Het |
| Fhl2 |
C |
T |
1: 43,167,550 (GRCm39) |
W181* |
probably null |
Het |
| G2e3 |
T |
A |
12: 51,415,941 (GRCm39) |
M559K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,289,515 (GRCm39) |
Y160F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,793,059 (GRCm39) |
I572M |
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,573,051 (GRCm39) |
L250P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,041,962 (GRCm39) |
N57K |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,527,365 (GRCm39) |
L408P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,954,131 (GRCm39) |
N804I |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,564,979 (GRCm39) |
L545S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,213,648 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
A |
G |
19: 13,727,298 (GRCm39) |
D276G |
probably benign |
Het |
| Or11a4 |
A |
G |
17: 37,536,217 (GRCm39) |
N67S |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,651,602 (GRCm39) |
I11T |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,666,236 (GRCm39) |
N138K |
probably benign |
Het |
| Prkch |
C |
A |
12: 73,749,286 (GRCm39) |
N345K |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,931,865 (GRCm39) |
|
probably null |
Het |
| Rrp7a |
T |
C |
15: 83,006,892 (GRCm39) |
E15G |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,876,453 (GRCm39) |
N526Y |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,108,005 (GRCm39) |
T1557S |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,476,215 (GRCm39) |
E602G |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,100,123 (GRCm39) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,000,014 (GRCm39) |
D267G |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,722 (GRCm39) |
N787D |
probably damaging |
Het |
| Vmn2r22 |
T |
G |
6: 123,615,051 (GRCm39) |
S180R |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,316,463 (GRCm39) |
E48D |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,030,509 (GRCm39) |
Q1144* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 42,836,691 (GRCm39) |
L34Q |
probably damaging |
Het |
|
| Other mutations in Gpatch2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02458:Gpatch2l
|
APN |
12 |
86,335,735 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03131:Gpatch2l
|
APN |
12 |
86,328,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0546:Gpatch2l
|
UTSW |
12 |
86,335,622 (GRCm39) |
makesense |
probably null |
|
|
R1349:Gpatch2l
|
UTSW |
12 |
86,307,483 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1368:Gpatch2l
|
UTSW |
12 |
86,307,439 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1600:Gpatch2l
|
UTSW |
12 |
86,303,708 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1701:Gpatch2l
|
UTSW |
12 |
86,335,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2656:Gpatch2l
|
UTSW |
12 |
86,335,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3149:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3150:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3176:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3177:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3276:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3277:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4342:Gpatch2l
|
UTSW |
12 |
86,307,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5161:Gpatch2l
|
UTSW |
12 |
86,313,950 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5712:Gpatch2l
|
UTSW |
12 |
86,291,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6343:Gpatch2l
|
UTSW |
12 |
86,307,379 (GRCm39) |
nonsense |
probably null |
|
|
R6899:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6910:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6917:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7002:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7010:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Gpatch2l
|
UTSW |
12 |
86,335,711 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7239:Gpatch2l
|
UTSW |
12 |
86,307,349 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7327:Gpatch2l
|
UTSW |
12 |
86,303,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Gpatch2l
|
UTSW |
12 |
86,312,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8231:Gpatch2l
|
UTSW |
12 |
86,290,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Gpatch2l
|
UTSW |
12 |
86,308,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9189:Gpatch2l
|
UTSW |
12 |
86,291,152 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9284:Gpatch2l
|
UTSW |
12 |
86,290,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9432:Gpatch2l
|
UTSW |
12 |
86,307,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation