Incidental Mutation 'IGL01315:Gramd1a'
| ID |
73820 |
| 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: 0.158)
|
| Stock # |
IGL01315
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30829552-30855321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30841993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 140
(F140L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082778
(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: F140L
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001280
Gene: ENSMUSG00000001248
AA Change: F140L
| 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: F140L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082778
Gene: ENSMUSG00000001248
AA Change: F140L
| 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 |
silent
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 |
possibly damaging
Transcript: ENSMUST00000186634
AA Change: F140L
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140195
Gene: ENSMUSG00000001248
AA Change: F140L
| 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 |
probably benign
Transcript: ENSMUST00000186723
AA Change: F221L
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139709
Gene: ENSMUSG00000001248
AA Change: F221L
| 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 benign
Transcript: ENSMUST00000187679
AA Change: F99L
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140674
Gene: ENSMUSG00000001248
AA Change: F99L
| 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: ENSMUST00000188032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202814
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
T |
C |
5: 31,050,578 (GRCm39) |
S409P |
probably benign |
Het |
| Ankdd1a |
T |
A |
9: 65,415,984 (GRCm39) |
H187L |
probably damaging |
Het |
| Ap2a1 |
A |
T |
7: 44,565,713 (GRCm39) |
D51E |
possibly damaging |
Het |
| Ccn3 |
T |
C |
15: 54,612,656 (GRCm39) |
S222P |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,810,985 (GRCm39) |
|
probably benign |
Het |
| Eif3h |
T |
C |
15: 51,705,881 (GRCm39) |
D91G |
probably damaging |
Het |
| Ell2 |
A |
G |
13: 75,910,351 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,375,194 (GRCm39) |
V551A |
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,274,301 (GRCm39) |
S354P |
probably benign |
Het |
| Hnmt |
A |
G |
2: 23,909,180 (GRCm39) |
Y78H |
probably benign |
Het |
| Ighe |
T |
A |
12: 113,234,972 (GRCm39) |
H396L |
unknown |
Het |
| Krt87 |
A |
G |
15: 101,384,848 (GRCm39) |
|
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,814,215 (GRCm39) |
S40P |
probably damaging |
Het |
| Mov10 |
A |
G |
3: 104,703,261 (GRCm39) |
V876A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,320,500 (GRCm39) |
V2031A |
probably damaging |
Het |
| Ntm |
T |
A |
9: 28,925,480 (GRCm39) |
S26C |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,429,322 (GRCm39) |
T1552I |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,659,975 (GRCm39) |
D453V |
probably damaging |
Het |
| Pkd2l1 |
C |
T |
19: 44,180,635 (GRCm39) |
D27N |
probably benign |
Het |
| Plppr5 |
G |
T |
3: 117,456,175 (GRCm39) |
C232F |
probably damaging |
Het |
| Slc39a2 |
G |
T |
14: 52,132,593 (GRCm39) |
E179* |
probably null |
Het |
| Slc8a3 |
A |
G |
12: 81,361,169 (GRCm39) |
V550A |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,208,968 (GRCm39) |
T626S |
probably benign |
Het |
| Tars1 |
A |
C |
15: 11,389,820 (GRCm39) |
Y363* |
probably null |
Het |
| Unc79 |
T |
C |
12: 103,054,780 (GRCm39) |
I906T |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,365,811 (GRCm39) |
P2222S |
possibly damaging |
Het |
| Wdr31 |
A |
C |
4: 62,374,074 (GRCm39) |
V306G |
probably damaging |
Het |
| Zdhhc1 |
C |
A |
8: 106,199,630 (GRCm39) |
R389S |
probably benign |
Het |
|
| Other mutations in Gramd1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation