Incidental Mutation 'IGL01684:Gramd1a'
ID |
103906 |
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 # |
IGL01684
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
30829552-30855321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30838330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 308
(S308P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140195
(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: S308P
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000001280 Gene: ENSMUSG00000001248 AA Change: S308P
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: S308P
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000082778 Gene: ENSMUSG00000001248 AA Change: S308P
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 |
possibly damaging
Transcript: ENSMUST00000186634
AA Change: S308P
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140195 Gene: ENSMUSG00000001248 AA Change: S308P
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
|
SMART Domains |
Protein: ENSMUSP00000139709 Gene: ENSMUSG00000001248
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
|
SMART Domains |
Protein: ENSMUSP00000140674 Gene: ENSMUSG00000001248
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
GRAM
|
52 |
119 |
8.9e-32 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188032
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205298
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206233
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202814
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220635
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ammecr1l |
G |
T |
18: 31,904,821 (GRCm39) |
V21F |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,116,740 (GRCm39) |
|
probably null |
Het |
BC024139 |
A |
G |
15: 76,008,885 (GRCm39) |
L283P |
probably damaging |
Het |
Cacna1h |
C |
T |
17: 25,607,690 (GRCm39) |
G876S |
probably damaging |
Het |
Ccdc66 |
T |
C |
14: 27,222,206 (GRCm39) |
E179G |
possibly damaging |
Het |
Ckap5 |
T |
G |
2: 91,385,699 (GRCm39) |
D182E |
probably benign |
Het |
Clk1 |
A |
G |
1: 58,456,424 (GRCm39) |
|
probably null |
Het |
Dhx34 |
G |
A |
7: 15,937,204 (GRCm39) |
T831M |
probably damaging |
Het |
Enox1 |
T |
C |
14: 77,816,533 (GRCm39) |
I171T |
possibly damaging |
Het |
Fscn2 |
G |
A |
11: 120,258,131 (GRCm39) |
R351H |
probably damaging |
Het |
Gabbr2 |
G |
A |
4: 46,736,501 (GRCm39) |
S460L |
probably benign |
Het |
Guca1a |
T |
C |
17: 47,706,068 (GRCm39) |
D137G |
probably null |
Het |
Heatr5a |
G |
A |
12: 52,002,294 (GRCm39) |
T214I |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,160,051 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,359,723 (GRCm39) |
S1854P |
probably damaging |
Het |
Mau2 |
A |
T |
8: 70,481,895 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,726,857 (GRCm39) |
I2639V |
probably benign |
Het |
Mylk |
A |
G |
16: 34,792,310 (GRCm39) |
M1544V |
possibly damaging |
Het |
Ogdh |
G |
T |
11: 6,292,546 (GRCm39) |
V420L |
probably damaging |
Het |
Or13a21 |
T |
C |
7: 139,998,828 (GRCm39) |
N286S |
probably damaging |
Het |
Or5b105 |
A |
G |
19: 13,080,353 (GRCm39) |
F105S |
possibly damaging |
Het |
Pcm1 |
A |
G |
8: 41,710,960 (GRCm39) |
T77A |
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,216,241 (GRCm39) |
I947F |
probably damaging |
Het |
Prrc2c |
A |
T |
1: 162,534,031 (GRCm39) |
|
probably benign |
Het |
Ptch2 |
A |
G |
4: 116,961,984 (GRCm39) |
E107G |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,978,055 (GRCm39) |
E182G |
probably damaging |
Het |
Rpl23a-ps3 |
C |
T |
14: 33,892,745 (GRCm39) |
|
noncoding transcript |
Het |
Sorl1 |
T |
C |
9: 41,892,007 (GRCm39) |
D1881G |
probably damaging |
Het |
Tbc1d19 |
A |
G |
5: 54,014,221 (GRCm39) |
N283S |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,741,361 (GRCm39) |
F30S |
probably damaging |
Het |
Tiparp |
A |
T |
3: 65,460,754 (GRCm39) |
K581I |
probably damaging |
Het |
Tle3 |
T |
C |
9: 61,310,728 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
C |
A |
2: 69,846,502 (GRCm39) |
Y1608* |
probably null |
Het |
Vmn1r59 |
T |
C |
7: 5,457,299 (GRCm39) |
T154A |
probably benign |
Het |
Vta1 |
A |
G |
10: 14,559,875 (GRCm39) |
I115T |
probably damaging |
Het |
Wwtr1 |
C |
A |
3: 57,483,210 (GRCm39) |
R31L |
probably damaging |
Het |
Zfp385b |
T |
C |
2: 77,550,019 (GRCm39) |
D22G |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 82,975,326 (GRCm39) |
E508G |
probably damaging |
Het |
Zfp735 |
T |
A |
11: 73,581,191 (GRCm39) |
V76E |
possibly 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 |
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 |
2014-01-21 |