Incidental Mutation 'R0628:Gramd1a'
| ID |
57699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gramd1a
|
| Ensembl Gene |
ENSMUSG00000001248 |
| Gene Name |
GRAM domain containing 1A |
| Synonyms |
1300003M23Rik, D7Bwg0611e |
| MMRRC Submission |
038817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R0628 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30829552-30855321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30842049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 80
(L80P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001280]
[ENSMUST00000085636]
[ENSMUST00000185514]
[ENSMUST00000186634]
[ENSMUST00000186723]
[ENSMUST00000187679]
|
| AlphaFold |
Q8VEF1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001280
AA Change: L121P
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: L121P
| 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 damaging
Transcript: ENSMUST00000085636
AA Change: L121P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
AA Change: L121P
| 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: ENSMUST00000185514
|
| SMART Domains |
Protein: ENSMUSP00000139681
Gene: ENSMUSG00000001248
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185985
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186634
AA Change: L121P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140195
Gene: ENSMUSG00000001248
AA Change: L121P
| 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 |
possibly damaging
Transcript: ENSMUST00000186723
AA Change: L202P
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139709
Gene: ENSMUSG00000001248
AA Change: L202P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
Pfam:GRAM
|
174 |
208 |
1e-6 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187679
AA Change: L80P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140674
Gene: ENSMUSG00000001248
AA Change: L80P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
GRAM
|
52 |
119 |
8.9e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205298
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188032
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202814
|
| Meta Mutation Damage Score |
0.9262 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
C |
18: 65,440,367 (GRCm39) |
V809G |
possibly damaging |
Het |
| Bank1 |
T |
A |
3: 135,772,151 (GRCm39) |
D493V |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,604,273 (GRCm39) |
|
probably benign |
Het |
| Ccdc17 |
T |
A |
4: 116,455,745 (GRCm39) |
L292H |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,837,498 (GRCm39) |
|
probably benign |
Het |
| Cd34 |
C |
A |
1: 194,641,525 (GRCm39) |
T317K |
probably damaging |
Het |
| Col6a5 |
C |
G |
9: 105,789,649 (GRCm39) |
|
probably null |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Copa |
T |
C |
1: 171,918,592 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
T |
C |
7: 118,128,867 (GRCm39) |
D56G |
probably damaging |
Het |
| Dlg4 |
C |
T |
11: 69,922,610 (GRCm39) |
T201I |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,536,264 (GRCm39) |
D2593V |
probably benign |
Het |
| Ect2l |
T |
A |
10: 18,018,788 (GRCm39) |
E536V |
probably damaging |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,935,479 (GRCm39) |
|
probably benign |
Het |
| Fam135b |
C |
T |
15: 71,320,505 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,825,161 (GRCm39) |
T392A |
possibly damaging |
Het |
| Gart |
C |
T |
16: 91,430,790 (GRCm39) |
R424H |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,358,163 (GRCm39) |
K2415E |
probably benign |
Het |
| Ica1 |
C |
T |
6: 8,644,256 (GRCm39) |
|
probably benign |
Het |
| Idi2l |
T |
A |
13: 8,990,958 (GRCm39) |
|
probably benign |
Het |
| Iyd |
A |
T |
10: 3,497,127 (GRCm39) |
M161L |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,392,200 (GRCm39) |
L974S |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,947,605 (GRCm39) |
D1619G |
probably damaging |
Het |
| Lypd8 |
C |
T |
11: 58,275,499 (GRCm39) |
T78M |
probably damaging |
Het |
| Marchf10 |
T |
A |
11: 105,280,986 (GRCm39) |
H433L |
probably benign |
Het |
| Mbp |
A |
G |
18: 82,572,742 (GRCm39) |
Y13C |
probably damaging |
Het |
| Mertk |
A |
T |
2: 128,580,233 (GRCm39) |
N229I |
probably damaging |
Het |
| Msrb2 |
T |
A |
2: 19,398,091 (GRCm39) |
D116E |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Otoa |
G |
A |
7: 120,744,873 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,719,552 (GRCm39) |
T1230A |
unknown |
Het |
| Polrmt |
T |
C |
10: 79,574,979 (GRCm39) |
T851A |
possibly damaging |
Het |
| Prpf6 |
C |
T |
2: 181,277,841 (GRCm39) |
P401L |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,839,635 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,272,064 (GRCm39) |
|
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,996,841 (GRCm39) |
T588A |
probably damaging |
Het |
| Rtel1 |
A |
C |
2: 180,993,674 (GRCm39) |
S782R |
probably benign |
Het |
| Sacm1l |
A |
G |
9: 123,378,060 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
G |
C |
13: 76,298,848 (GRCm39) |
V1185L |
possibly damaging |
Het |
| Skint5 |
A |
T |
4: 113,588,266 (GRCm39) |
L728* |
probably null |
Het |
| Slc9b2 |
T |
A |
3: 135,029,536 (GRCm39) |
|
probably benign |
Het |
| Snapc3 |
A |
T |
4: 83,368,397 (GRCm39) |
H298L |
probably benign |
Het |
| Tex9 |
A |
T |
9: 72,399,233 (GRCm39) |
M1K |
probably null |
Het |
| Trappc13 |
C |
T |
13: 104,291,424 (GRCm39) |
|
probably benign |
Het |
| Usp3 |
C |
T |
9: 66,425,726 (GRCm39) |
R467H |
probably benign |
Het |
| Vmn2r11 |
T |
A |
5: 109,195,597 (GRCm39) |
L576F |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,165,849 (GRCm39) |
F792S |
probably benign |
Het |
| Zfp1007 |
T |
C |
5: 109,826,442 (GRCm39) |
|
probably null |
Het |
| Zfp280d |
T |
C |
9: 72,269,230 (GRCm39) |
V764A |
probably benign |
Het |
| Zfp69 |
G |
A |
4: 120,806,622 (GRCm39) |
Q4* |
probably null |
Het |
| Zfp692 |
T |
G |
11: 58,200,449 (GRCm39) |
L206R |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
| Zic4 |
T |
A |
9: 91,266,170 (GRCm39) |
Y264* |
probably null |
Het |
| Zic4 |
T |
A |
9: 91,266,172 (GRCm39) |
M272K |
probably benign |
Het |
| Zscan4b |
A |
T |
7: 10,635,390 (GRCm39) |
N284K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTCACTTCCTTCAACTGGATGG -3'
(R):5'- AAACTTCCTGAAGCAGAGCGCC -3'
Sequencing Primer
(F):5'- CACTTCCTTCAACTGGATGGAAATC -3'
(R):5'- TGAAGCAGAGCGCCTCATC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation