Incidental Mutation 'IGL02983:Gramd4'
ID |
406610 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gramd4
|
Ensembl Gene |
ENSMUSG00000035900 |
Gene Name |
GRAM domain containing 4 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02983
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
85941896-86021835 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86011219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 249
(V249M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088931]
[ENSMUST00000123349]
[ENSMUST00000138134]
|
AlphaFold |
Q8CB44 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088931
AA Change: V274M
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000086321 Gene: ENSMUSG00000035900 AA Change: V274M
Domain | Start | End | E-Value | Type |
coiled coil region
|
132 |
190 |
N/A |
INTRINSIC |
transmembrane domain
|
301 |
323 |
N/A |
INTRINSIC |
transmembrane domain
|
400 |
422 |
N/A |
INTRINSIC |
GRAM
|
500 |
578 |
8.41e-21 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123349
AA Change: V249M
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117468 Gene: ENSMUSG00000035900 AA Change: V249M
Domain | Start | End | E-Value | Type |
coiled coil region
|
107 |
165 |
N/A |
INTRINSIC |
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123474
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138134
AA Change: V249M
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000120796 Gene: ENSMUSG00000035900 AA Change: V249M
Domain | Start | End | E-Value | Type |
coiled coil region
|
107 |
165 |
N/A |
INTRINSIC |
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
transmembrane domain
|
375 |
397 |
N/A |
INTRINSIC |
GRAM
|
475 |
553 |
3.86e-20 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,240,663 (GRCm39) |
N842S |
probably benign |
Het |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Brip1 |
T |
C |
11: 86,029,950 (GRCm39) |
I565V |
probably benign |
Het |
Camta2 |
C |
T |
11: 70,562,848 (GRCm39) |
R959Q |
probably damaging |
Het |
Cbln2 |
A |
G |
18: 86,731,504 (GRCm39) |
E104G |
probably benign |
Het |
Cdc42ep4 |
T |
C |
11: 113,619,995 (GRCm39) |
K132R |
probably benign |
Het |
Clcnka |
T |
A |
4: 141,117,442 (GRCm39) |
I452F |
probably damaging |
Het |
Clec4a3 |
T |
A |
6: 122,944,526 (GRCm39) |
|
probably null |
Het |
Crat |
A |
C |
2: 30,294,538 (GRCm39) |
|
probably null |
Het |
Cspp1 |
A |
G |
1: 10,197,750 (GRCm39) |
K227R |
probably benign |
Het |
Ddx1 |
A |
T |
12: 13,273,863 (GRCm39) |
I588N |
probably damaging |
Het |
Dip2b |
G |
T |
15: 100,029,903 (GRCm39) |
R98L |
possibly damaging |
Het |
Dock5 |
G |
A |
14: 68,002,119 (GRCm39) |
P1617L |
probably damaging |
Het |
Fa2h |
C |
T |
8: 112,073,154 (GRCm39) |
|
probably null |
Het |
Fezf1 |
T |
A |
6: 23,247,871 (GRCm39) |
N68I |
probably damaging |
Het |
Gabrb2 |
A |
T |
11: 42,312,227 (GRCm39) |
L17F |
probably benign |
Het |
Gm17078 |
T |
C |
14: 51,848,647 (GRCm39) |
K30R |
probably benign |
Het |
Kcnd2 |
A |
C |
6: 21,216,554 (GRCm39) |
D86A |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,386,068 (GRCm39) |
E3486G |
probably damaging |
Het |
Ltb |
A |
G |
17: 35,413,646 (GRCm39) |
D50G |
probably benign |
Het |
Med18 |
A |
T |
4: 132,186,997 (GRCm39) |
Y167* |
probably null |
Het |
Nat14 |
G |
A |
7: 4,927,127 (GRCm39) |
A100T |
probably damaging |
Het |
Nscme3l |
A |
G |
19: 5,553,209 (GRCm39) |
F191L |
possibly damaging |
Het |
Nxph2 |
T |
C |
2: 23,290,374 (GRCm39) |
V242A |
probably damaging |
Het |
Or1j10 |
T |
A |
2: 36,267,649 (GRCm39) |
I287N |
probably damaging |
Het |
Or1x2 |
T |
C |
11: 50,918,207 (GRCm39) |
V126A |
probably damaging |
Het |
Or2a55-ps1 |
T |
C |
6: 43,071,582 (GRCm39) |
|
noncoding transcript |
Het |
Or6c219 |
T |
A |
10: 129,781,058 (GRCm39) |
N291I |
probably damaging |
Het |
Pramel15 |
T |
C |
4: 144,099,697 (GRCm39) |
E356G |
probably benign |
Het |
Rad21l |
A |
G |
2: 151,497,040 (GRCm39) |
L358S |
probably damaging |
Het |
Rasgef1c |
A |
G |
11: 49,847,876 (GRCm39) |
T4A |
possibly damaging |
Het |
Spata31d1a |
A |
G |
13: 59,851,508 (GRCm39) |
S207P |
possibly damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Szt2 |
T |
C |
4: 118,222,976 (GRCm39) |
|
probably benign |
Het |
Taf6 |
T |
C |
5: 138,177,142 (GRCm39) |
T642A |
probably benign |
Het |
Tmem30a |
A |
T |
9: 79,678,725 (GRCm39) |
M277K |
possibly damaging |
Het |
Vmn1r86 |
T |
C |
7: 12,836,741 (GRCm39) |
D45G |
probably damaging |
Het |
Xkr5 |
T |
C |
8: 18,983,848 (GRCm39) |
I565V |
probably benign |
Het |
Zfp526 |
C |
T |
7: 24,923,840 (GRCm39) |
A33V |
probably benign |
Het |
|
Other mutations in Gramd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
Grasping
|
UTSW |
15 |
85,975,704 (GRCm39) |
missense |
probably damaging |
0.99 |
R0053:Gramd4
|
UTSW |
15 |
86,014,339 (GRCm39) |
splice site |
probably benign |
|
R0622:Gramd4
|
UTSW |
15 |
85,975,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R1401:Gramd4
|
UTSW |
15 |
86,009,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R1741:Gramd4
|
UTSW |
15 |
85,975,730 (GRCm39) |
splice site |
probably null |
|
R1840:Gramd4
|
UTSW |
15 |
86,014,393 (GRCm39) |
critical splice donor site |
probably null |
|
R1968:Gramd4
|
UTSW |
15 |
86,017,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R2909:Gramd4
|
UTSW |
15 |
86,006,384 (GRCm39) |
nonsense |
probably null |
|
R4345:Gramd4
|
UTSW |
15 |
86,019,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R4431:Gramd4
|
UTSW |
15 |
86,014,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R4832:Gramd4
|
UTSW |
15 |
86,019,057 (GRCm39) |
missense |
probably benign |
|
R5164:Gramd4
|
UTSW |
15 |
85,985,032 (GRCm39) |
missense |
probably benign |
0.16 |
R5216:Gramd4
|
UTSW |
15 |
86,018,986 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5898:Gramd4
|
UTSW |
15 |
85,984,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R5959:Gramd4
|
UTSW |
15 |
86,011,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R6303:Gramd4
|
UTSW |
15 |
86,019,120 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6304:Gramd4
|
UTSW |
15 |
86,019,120 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6678:Gramd4
|
UTSW |
15 |
85,975,705 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6678:Gramd4
|
UTSW |
15 |
85,975,704 (GRCm39) |
missense |
probably damaging |
0.99 |
R6980:Gramd4
|
UTSW |
15 |
86,016,170 (GRCm39) |
missense |
probably benign |
0.17 |
R7371:Gramd4
|
UTSW |
15 |
86,019,607 (GRCm39) |
missense |
probably benign |
0.04 |
R7557:Gramd4
|
UTSW |
15 |
85,985,101 (GRCm39) |
nonsense |
probably null |
|
R7922:Gramd4
|
UTSW |
15 |
86,016,159 (GRCm39) |
missense |
probably benign |
0.07 |
R8874:Gramd4
|
UTSW |
15 |
85,985,093 (GRCm39) |
missense |
probably damaging |
0.97 |
R9127:Gramd4
|
UTSW |
15 |
85,975,525 (GRCm39) |
missense |
probably benign |
0.00 |
R9652:Gramd4
|
UTSW |
15 |
86,016,160 (GRCm39) |
missense |
probably damaging |
0.97 |
R9711:Gramd4
|
UTSW |
15 |
86,014,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |