Incidental Mutation 'IGL02029:Gramd1a'
ID |
184304 |
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 # |
IGL02029
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
30829552-30855321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 30832249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 596
(R596H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082778
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001280]
[ENSMUST00000085636]
[ENSMUST00000186634]
|
AlphaFold |
Q8VEF1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001280
AA Change: R630H
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000001280 Gene: ENSMUSG00000001248 AA Change: R630H
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 |
possibly damaging
Transcript: ENSMUST00000085636
AA Change: R596H
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000082778 Gene: ENSMUSG00000001248 AA Change: R596H
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 |
unknown
Transcript: ENSMUST00000202814
AA Change: R192H
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206432
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206233
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220635
AA Change: R84H
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap2 |
T |
C |
10: 126,916,152 (GRCm39) |
V221A |
unknown |
Het |
Akr1c13 |
T |
A |
13: 4,255,361 (GRCm39) |
Y317* |
probably null |
Het |
Bicd2 |
T |
A |
13: 49,522,975 (GRCm39) |
I30N |
probably damaging |
Het |
Cadm2 |
G |
T |
16: 66,544,182 (GRCm39) |
N291K |
probably damaging |
Het |
Ccdc61 |
C |
T |
7: 18,637,423 (GRCm39) |
C68Y |
probably damaging |
Het |
Ccnl2 |
A |
G |
4: 155,906,319 (GRCm39) |
S351G |
probably benign |
Het |
Cdcp1 |
A |
G |
9: 123,012,899 (GRCm39) |
|
probably benign |
Het |
Clhc1 |
T |
C |
11: 29,510,798 (GRCm39) |
S256P |
probably benign |
Het |
Fam83h |
T |
C |
15: 75,878,287 (GRCm39) |
E37G |
probably damaging |
Het |
Fancd2 |
C |
T |
6: 113,547,936 (GRCm39) |
L938F |
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,342,675 (GRCm39) |
A68E |
probably benign |
Het |
Fcrl1 |
T |
A |
3: 87,283,794 (GRCm39) |
|
probably benign |
Het |
Ganc |
A |
G |
2: 120,290,338 (GRCm39) |
T892A |
probably benign |
Het |
Limk1 |
A |
T |
5: 134,686,808 (GRCm39) |
Y518* |
probably null |
Het |
Map1a |
A |
G |
2: 121,133,779 (GRCm39) |
T1294A |
possibly damaging |
Het |
Marchf3 |
G |
A |
18: 56,940,753 (GRCm39) |
P126S |
probably benign |
Het |
Ntn5 |
A |
G |
7: 45,336,015 (GRCm39) |
I149V |
probably benign |
Het |
Nup43 |
T |
C |
10: 7,543,347 (GRCm39) |
F8L |
possibly damaging |
Het |
Or5b122 |
A |
T |
19: 13,563,468 (GRCm39) |
M267L |
probably benign |
Het |
Or5be3 |
A |
G |
2: 86,864,245 (GRCm39) |
F107L |
probably benign |
Het |
P2rx6 |
C |
T |
16: 17,385,959 (GRCm39) |
S236F |
probably benign |
Het |
Peg10 |
G |
T |
6: 4,754,473 (GRCm39) |
|
probably benign |
Het |
Runx2 |
T |
A |
17: 44,969,574 (GRCm39) |
R238* |
probably null |
Het |
Serpinb9d |
A |
T |
13: 33,380,512 (GRCm39) |
I133L |
possibly damaging |
Het |
Snph |
A |
G |
2: 151,435,527 (GRCm39) |
V434A |
probably damaging |
Het |
Trp53rkb |
C |
A |
2: 166,637,314 (GRCm39) |
P90Q |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,580,148 (GRCm39) |
E21836* |
probably null |
Het |
Tut7 |
A |
G |
13: 59,932,702 (GRCm39) |
|
probably benign |
Het |
Ube3c |
T |
A |
5: 29,824,326 (GRCm39) |
F507I |
probably damaging |
Het |
Ugt1a6a |
T |
C |
1: 88,066,403 (GRCm39) |
S70P |
probably benign |
Het |
Zfp354b |
C |
T |
11: 50,814,664 (GRCm39) |
C87Y |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,079,395 (GRCm39) |
|
probably benign |
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 |
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 |
2014-05-07 |