Incidental Mutation 'IGL01986:Gramd1a'
ID |
181910 |
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 # |
IGL01986
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
30829552-30855321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30833434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 610
(L610Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001280]
[ENSMUST00000085636]
[ENSMUST00000186634]
|
AlphaFold |
Q8VEF1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001280
AA Change: L610Q
PolyPhen 2
Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000001280 Gene: ENSMUSG00000001248 AA Change: L610Q
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 benign
Transcript: ENSMUST00000085636
AA Change: L576Q
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000082778 Gene: ENSMUSG00000001248 AA Change: L576Q
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: L172Q
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206432
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206233
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220635
AA Change: L60Q
|
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 |
6820408C15Rik |
A |
T |
2: 152,282,956 (GRCm39) |
I245F |
possibly damaging |
Het |
Abca3 |
G |
A |
17: 24,627,088 (GRCm39) |
G1263D |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,779,265 (GRCm39) |
S1442T |
probably damaging |
Het |
Arl15 |
C |
A |
13: 114,058,902 (GRCm39) |
S56R |
possibly damaging |
Het |
Ccdc38 |
A |
T |
10: 93,415,705 (GRCm39) |
N415Y |
probably damaging |
Het |
Ccny |
G |
A |
18: 9,377,817 (GRCm39) |
R81C |
probably damaging |
Het |
Cracd |
T |
A |
5: 77,006,457 (GRCm39) |
S939R |
unknown |
Het |
Csmd3 |
T |
C |
15: 47,522,591 (GRCm39) |
T2693A |
possibly damaging |
Het |
Fancm |
C |
T |
12: 65,173,429 (GRCm39) |
Q1914* |
probably null |
Het |
Fcsk |
T |
C |
8: 111,609,889 (GRCm39) |
T1042A |
probably benign |
Het |
Gm18856 |
G |
A |
13: 14,139,413 (GRCm39) |
|
probably benign |
Het |
Hsd17b4 |
C |
A |
18: 50,293,193 (GRCm39) |
|
probably benign |
Het |
Hspa12a |
A |
G |
19: 58,787,834 (GRCm39) |
S663P |
probably benign |
Het |
Insr |
C |
T |
8: 3,208,817 (GRCm39) |
V1215I |
probably damaging |
Het |
Kdr |
A |
G |
5: 76,113,519 (GRCm39) |
V783A |
probably benign |
Het |
Klhl9 |
T |
C |
4: 88,640,016 (GRCm39) |
D75G |
probably damaging |
Het |
Lmntd1 |
A |
G |
6: 145,365,533 (GRCm39) |
S53P |
probably damaging |
Het |
Lrrc41 |
T |
A |
4: 115,946,519 (GRCm39) |
F411L |
probably benign |
Het |
Lyst |
G |
A |
13: 13,950,212 (GRCm39) |
|
probably null |
Het |
Mmp17 |
A |
G |
5: 129,673,692 (GRCm39) |
H257R |
probably damaging |
Het |
Nkiras1 |
G |
A |
14: 18,280,071 (GRCm38) |
R154Q |
probably damaging |
Het |
Or10ag2 |
A |
G |
2: 87,248,880 (GRCm39) |
I163V |
probably benign |
Het |
Or2b4 |
A |
G |
17: 38,116,957 (GRCm39) |
K307R |
probably damaging |
Het |
Or4p21 |
C |
T |
2: 88,276,839 (GRCm39) |
V148I |
probably benign |
Het |
Or8s16 |
T |
C |
15: 98,210,660 (GRCm39) |
Y257C |
probably damaging |
Het |
Pcsk6 |
G |
A |
7: 65,577,625 (GRCm39) |
R60H |
probably damaging |
Het |
Polk |
T |
C |
13: 96,620,331 (GRCm39) |
D623G |
probably benign |
Het |
Rlf |
A |
T |
4: 121,005,303 (GRCm39) |
C1226S |
probably damaging |
Het |
Rpa2 |
C |
T |
4: 132,499,191 (GRCm39) |
P87S |
probably benign |
Het |
Rpa2 |
C |
T |
4: 132,499,192 (GRCm39) |
P87L |
probably benign |
Het |
Sema5a |
T |
C |
15: 32,682,506 (GRCm39) |
|
probably benign |
Het |
Sis |
A |
T |
3: 72,852,545 (GRCm39) |
M529K |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,460,237 (GRCm39) |
M3375T |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,934,259 (GRCm39) |
L83Q |
probably damaging |
Het |
Tec |
A |
T |
5: 72,939,348 (GRCm39) |
Y222* |
probably null |
Het |
Tfap2d |
C |
T |
1: 19,189,383 (GRCm39) |
|
probably benign |
Het |
Trak1 |
G |
A |
9: 121,302,033 (GRCm39) |
A930T |
probably benign |
Het |
Ugt2b34 |
G |
T |
5: 87,049,111 (GRCm39) |
H305N |
probably benign |
Het |
Vmn2r95 |
A |
G |
17: 18,660,473 (GRCm39) |
N295S |
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 |
|
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 |
2014-05-07 |