Incidental Mutation 'IGL02060:Gramd1a'
| ID |
185390 |
| 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 # |
IGL02060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30829552-30855321 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 30829996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 151
(L151*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001280]
[ENSMUST00000085636]
[ENSMUST00000098548]
[ENSMUST00000186634]
[ENSMUST00000211945]
|
| AlphaFold |
Q8VEF1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001280
AA Change: L697*
|
| SMART Domains |
Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: L697*
| 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 null
Transcript: ENSMUST00000085636
AA Change: L663*
|
| SMART Domains |
Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
AA Change: L663*
| 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 |
probably benign
Transcript: ENSMUST00000098548
|
| SMART Domains |
Protein: ENSMUSP00000096148
Gene: ENSMUSG00000019194
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:V-set
|
23 |
147 |
7.7e-17 |
PFAM |
|
transmembrane domain
|
154 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
199 |
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 benign
Transcript: ENSMUST00000206233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211945
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206432
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220635
AA Change: L151*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202814
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,852,603 (GRCm39) |
I178F |
probably damaging |
Het |
| Aff1 |
T |
C |
5: 103,931,715 (GRCm39) |
V111A |
possibly damaging |
Het |
| Aox1 |
T |
G |
1: 58,137,114 (GRCm39) |
I1168R |
possibly damaging |
Het |
| Atf6 |
T |
C |
1: 170,646,989 (GRCm39) |
R295G |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,164,328 (GRCm39) |
|
probably benign |
Het |
| Cse1l |
A |
T |
2: 166,772,573 (GRCm39) |
L413F |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,672,666 (GRCm39) |
V1024A |
probably damaging |
Het |
| Fam13c |
A |
T |
10: 70,388,971 (GRCm39) |
E498V |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,420 (GRCm39) |
E4792G |
probably damaging |
Het |
| Igbp1b |
G |
T |
6: 138,634,982 (GRCm39) |
A154E |
probably damaging |
Het |
| Itga9 |
A |
G |
9: 118,490,500 (GRCm39) |
K277R |
probably damaging |
Het |
| Klra10 |
T |
C |
6: 130,249,688 (GRCm39) |
Y199C |
probably damaging |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,563 (GRCm39) |
T65A |
probably damaging |
Het |
| Mospd3 |
T |
C |
5: 137,598,266 (GRCm39) |
Y85C |
probably damaging |
Het |
| Nol6 |
C |
T |
4: 41,117,700 (GRCm39) |
A887T |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,907 (GRCm39) |
F12Y |
probably damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,824 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p57 |
G |
T |
7: 107,665,878 (GRCm39) |
F42L |
probably benign |
Het |
| Or9g4 |
C |
T |
2: 85,505,178 (GRCm39) |
V106I |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,469 (GRCm39) |
T420A |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,526,546 (GRCm39) |
V646A |
probably benign |
Het |
| Prkg2 |
A |
G |
5: 99,172,374 (GRCm39) |
S114P |
probably benign |
Het |
| Rela |
G |
T |
19: 5,688,628 (GRCm39) |
K28N |
probably damaging |
Het |
| Rhbdf2 |
G |
T |
11: 116,491,452 (GRCm39) |
A598E |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,762,450 (GRCm39) |
D1454N |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 141,938,767 (GRCm39) |
L397F |
possibly damaging |
Het |
| Sh3pxd2a |
C |
T |
19: 47,361,817 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,795,453 (GRCm39) |
V518E |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,700,134 (GRCm39) |
M133L |
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,014,810 (GRCm39) |
Y105C |
probably damaging |
Het |
| Sult2a8 |
A |
G |
7: 14,159,326 (GRCm39) |
S98P |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,111,261 (GRCm39) |
M4L |
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,342,321 (GRCm39) |
I654V |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,315,237 (GRCm39) |
S133G |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,516 (GRCm39) |
N76S |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,330,634 (GRCm39) |
S910G |
probably damaging |
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 |
|
IGL01793:Gramd1a
|
APN |
7 |
30,833,838 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation