Incidental Mutation 'IGL01793:Gramd1a'
| ID |
155288 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gramd1a
|
| Ensembl Gene |
ENSMUSG00000001248 |
| Gene Name |
GRAM domain containing 1A |
| Synonyms |
1300003M23Rik, D7Bwg0611e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
IGL01793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30829552-30855321 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 30833838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001280]
[ENSMUST00000085636]
[ENSMUST00000186634]
|
| AlphaFold |
Q8VEF1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001280
|
| SMART Domains |
Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
GRAM
|
93 |
160 |
2.54e-29 |
SMART |
|
low complexity region
|
342 |
360 |
N/A |
INTRINSIC |
|
Pfam:DUF4782
|
372 |
520 |
7.3e-37 |
PFAM |
|
low complexity region
|
531 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
|
transmembrane domain
|
606 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085636
|
| SMART Domains |
Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
GRAM
|
93 |
160 |
2.54e-29 |
SMART |
|
low complexity region
|
342 |
360 |
N/A |
INTRINSIC |
|
Pfam:DUF4782
|
372 |
500 |
1.1e-28 |
PFAM |
|
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
|
transmembrane domain
|
572 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
685 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185985
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186634
|
| SMART Domains |
Protein: ENSMUSP00000140195
Gene: ENSMUSG00000001248
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
GRAM
|
93 |
160 |
8.9e-32 |
SMART |
|
low complexity region
|
342 |
360 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188032
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220635
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,375,783 (GRCm39) |
I871V |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,659,831 (GRCm39) |
|
probably null |
Het |
| D930020B18Rik |
T |
C |
10: 121,507,736 (GRCm39) |
I158T |
probably damaging |
Het |
| Drc7 |
T |
C |
8: 95,797,905 (GRCm39) |
I441T |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,748,709 (GRCm39) |
I147T |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,442,149 (GRCm39) |
M1150I |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,229,213 (GRCm39) |
S523G |
possibly damaging |
Het |
| Hc |
A |
G |
2: 34,918,202 (GRCm39) |
Y694H |
probably damaging |
Het |
| Kif6 |
T |
A |
17: 49,931,521 (GRCm39) |
I73N |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,585,809 (GRCm39) |
|
probably benign |
Het |
| Luzp2 |
G |
T |
7: 54,821,997 (GRCm39) |
L171F |
probably damaging |
Het |
| Naaladl1 |
C |
A |
19: 6,159,661 (GRCm39) |
|
probably null |
Het |
| Otop1 |
G |
A |
5: 38,457,215 (GRCm39) |
A325T |
possibly damaging |
Het |
| Parp8 |
T |
A |
13: 117,047,415 (GRCm39) |
Y219F |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,668,817 (GRCm39) |
I660V |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,588,540 (GRCm39) |
N238S |
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,394,615 (GRCm39) |
D186E |
probably damaging |
Het |
| Rab40c |
G |
A |
17: 26,103,596 (GRCm39) |
L156F |
probably damaging |
Het |
| Scnn1a |
T |
C |
6: 125,320,666 (GRCm39) |
V547A |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,599,721 (GRCm39) |
V247A |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,302,191 (GRCm39) |
E853G |
possibly damaging |
Het |
| Synj2 |
C |
T |
17: 6,077,500 (GRCm39) |
R460* |
probably null |
Het |
| Synj2 |
T |
A |
17: 6,088,321 (GRCm39) |
H1457Q |
probably benign |
Het |
| Syt1 |
T |
C |
10: 108,419,836 (GRCm39) |
D275G |
possibly damaging |
Het |
| Tmx1 |
A |
G |
12: 70,505,561 (GRCm39) |
D108G |
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,668 (GRCm39) |
V277A |
probably benign |
Het |
| Vmn1r83 |
C |
T |
7: 12,055,504 (GRCm39) |
M184I |
probably benign |
Het |
| Zfp750 |
G |
T |
11: 121,404,810 (GRCm39) |
P22T |
probably damaging |
Het |
| Zscan2 |
A |
G |
7: 80,524,692 (GRCm39) |
I138V |
probably null |
Het |
|
| Other mutations in Gramd1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01315:Gramd1a
|
APN |
7 |
30,841,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01627:Gramd1a
|
APN |
7 |
30,839,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01684:Gramd1a
|
APN |
7 |
30,838,330 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01986:Gramd1a
|
APN |
7 |
30,833,434 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02029:Gramd1a
|
APN |
7 |
30,832,249 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02060:Gramd1a
|
APN |
7 |
30,829,996 (GRCm39) |
nonsense |
probably null |
|
|
IGL02569:Gramd1a
|
APN |
7 |
30,829,932 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02606:Gramd1a
|
APN |
7 |
30,833,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02715:Gramd1a
|
APN |
7 |
30,835,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03253:Gramd1a
|
APN |
7 |
30,839,271 (GRCm39) |
nonsense |
probably null |
|
|
PIT4377001:Gramd1a
|
UTSW |
7 |
30,843,095 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4618001:Gramd1a
|
UTSW |
7 |
30,832,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0179:Gramd1a
|
UTSW |
7 |
30,841,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Gramd1a
|
UTSW |
7 |
30,837,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0330:Gramd1a
|
UTSW |
7 |
30,837,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0628:Gramd1a
|
UTSW |
7 |
30,842,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0834:Gramd1a
|
UTSW |
7 |
30,837,589 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1421:Gramd1a
|
UTSW |
7 |
30,842,291 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1430:Gramd1a
|
UTSW |
7 |
30,832,211 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1682:Gramd1a
|
UTSW |
7 |
30,842,325 (GRCm39) |
splice site |
probably null |
|
|
R1703:Gramd1a
|
UTSW |
7 |
30,838,959 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1822:Gramd1a
|
UTSW |
7 |
30,841,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2308:Gramd1a
|
UTSW |
7 |
30,839,215 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3861:Gramd1a
|
UTSW |
7 |
30,835,365 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4184:Gramd1a
|
UTSW |
7 |
30,831,940 (GRCm39) |
intron |
probably benign |
|
|
R4908:Gramd1a
|
UTSW |
7 |
30,838,292 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4978:Gramd1a
|
UTSW |
7 |
30,832,213 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5723:Gramd1a
|
UTSW |
7 |
30,833,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5927:Gramd1a
|
UTSW |
7 |
30,839,246 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6466:Gramd1a
|
UTSW |
7 |
30,843,221 (GRCm39) |
missense |
probably benign |
|
|
R6838:Gramd1a
|
UTSW |
7 |
30,833,929 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7034:Gramd1a
|
UTSW |
7 |
30,832,181 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7036:Gramd1a
|
UTSW |
7 |
30,832,181 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7867:Gramd1a
|
UTSW |
7 |
30,842,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8729:Gramd1a
|
UTSW |
7 |
30,843,248 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8783:Gramd1a
|
UTSW |
7 |
30,832,220 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9147:Gramd1a
|
UTSW |
7 |
30,837,606 (GRCm39) |
unclassified |
probably benign |
|
|
R9485:Gramd1a
|
UTSW |
7 |
30,829,963 (GRCm39) |
missense |
unknown |
|
|
Z1186:Gramd1a
|
UTSW |
7 |
30,843,198 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2014-02-04 |
Incidental Mutation