Incidental Mutation 'R6303:Gramd4'
ID |
509168 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gramd4
|
Ensembl Gene |
ENSMUSG00000035900 |
Gene Name |
GRAM domain containing 4 |
Synonyms |
|
MMRRC Submission |
044410-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6303 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
85941896-86021835 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86019120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 596
(E596G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120796
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044332]
[ENSMUST00000088931]
[ENSMUST00000123349]
[ENSMUST00000138134]
|
AlphaFold |
Q8CB44 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044332
|
SMART Domains |
Protein: ENSMUSP00000038203 Gene: ENSMUSG00000035891
Domain | Start | End | E-Value | Type |
Blast:PH
|
8 |
126 |
9e-39 |
BLAST |
Pfam:DAGK_cat
|
132 |
274 |
1.1e-31 |
PFAM |
low complexity region
|
356 |
367 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000088931
|
SMART Domains |
Protein: ENSMUSP00000086321 Gene: ENSMUSG00000035900
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 benign
Transcript: ENSMUST00000123349
|
SMART Domains |
Protein: ENSMUSP00000117468 Gene: ENSMUSG00000035900
Domain | Start | End | E-Value | Type |
coiled coil region
|
107 |
165 |
N/A |
INTRINSIC |
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138134
AA Change: E596G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000120796 Gene: ENSMUSG00000035900 AA Change: E596G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150767
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (43/44) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol9b |
T |
A |
15: 77,619,504 (GRCm39) |
V100E |
probably damaging |
Het |
Bin3 |
A |
G |
14: 70,374,625 (GRCm39) |
D218G |
possibly damaging |
Het |
Cobll1 |
A |
T |
2: 64,928,377 (GRCm39) |
M982K |
possibly damaging |
Het |
Crybg2 |
T |
C |
4: 133,814,898 (GRCm39) |
V1593A |
possibly damaging |
Het |
Ctsh |
A |
G |
9: 89,944,796 (GRCm39) |
S76G |
possibly damaging |
Het |
Dnajc10 |
T |
G |
2: 80,181,008 (GRCm39) |
D767E |
probably benign |
Het |
Elapor1 |
A |
C |
3: 108,368,572 (GRCm39) |
C806W |
probably damaging |
Het |
Etaa1 |
A |
C |
11: 17,897,505 (GRCm39) |
M204R |
probably damaging |
Het |
Fbxw16 |
A |
T |
9: 109,278,169 (GRCm39) |
I3N |
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,977,317 (GRCm39) |
E1394G |
probably damaging |
Het |
Gm19410 |
T |
C |
8: 36,274,714 (GRCm39) |
C1512R |
possibly damaging |
Het |
Hephl1 |
C |
A |
9: 15,001,448 (GRCm39) |
V226F |
possibly damaging |
Het |
Ilf3 |
G |
A |
9: 21,314,432 (GRCm39) |
|
probably benign |
Het |
Kcnh3 |
T |
C |
15: 99,124,919 (GRCm39) |
V123A |
probably benign |
Het |
Kdm2b |
A |
G |
5: 123,019,807 (GRCm39) |
S260P |
probably benign |
Het |
Lingo4 |
G |
A |
3: 94,310,513 (GRCm39) |
G484R |
probably damaging |
Het |
Lrrc10b |
T |
C |
19: 10,434,342 (GRCm39) |
Q113R |
probably benign |
Het |
Lrrc8c |
A |
T |
5: 105,756,475 (GRCm39) |
N750I |
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,882,684 (GRCm39) |
N456S |
possibly damaging |
Het |
Nlrp2 |
A |
G |
7: 5,340,760 (GRCm39) |
L18P |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,784,565 (GRCm39) |
L238P |
probably damaging |
Het |
Nup155 |
T |
C |
15: 8,147,526 (GRCm39) |
S262P |
probably damaging |
Het |
Or51k1 |
G |
A |
7: 103,661,238 (GRCm39) |
L224F |
probably damaging |
Het |
Pappa |
G |
A |
4: 65,122,891 (GRCm39) |
G742D |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,727,907 (GRCm39) |
|
probably benign |
Het |
Phyhipl |
A |
G |
10: 70,395,387 (GRCm39) |
|
probably null |
Het |
Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
Plscr5 |
A |
T |
9: 92,087,609 (GRCm39) |
I193F |
probably benign |
Het |
Polr1b |
G |
A |
2: 128,957,682 (GRCm39) |
R579H |
probably damaging |
Het |
Polr2a |
A |
T |
11: 69,637,739 (GRCm39) |
W202R |
probably damaging |
Het |
Ppp4r1 |
A |
G |
17: 66,131,724 (GRCm39) |
K489E |
probably benign |
Het |
Qser1 |
G |
A |
2: 104,593,175 (GRCm39) |
T1704I |
probably damaging |
Het |
Sik1 |
A |
G |
17: 32,065,270 (GRCm39) |
V776A |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,126,202 (GRCm39) |
K2269N |
possibly damaging |
Het |
Spice1 |
A |
G |
16: 44,191,060 (GRCm39) |
M305V |
probably benign |
Het |
Taf4b |
T |
C |
18: 14,940,412 (GRCm39) |
I297T |
probably damaging |
Het |
Trim14 |
C |
A |
4: 46,522,118 (GRCm39) |
M186I |
probably benign |
Het |
Usp49 |
C |
A |
17: 47,991,747 (GRCm39) |
Q670K |
probably damaging |
Het |
Usp54 |
T |
C |
14: 20,611,036 (GRCm39) |
D1260G |
possibly damaging |
Het |
Vmn1r224 |
T |
A |
17: 20,640,028 (GRCm39) |
S202T |
possibly damaging |
Het |
Vmn1r3 |
T |
A |
4: 3,184,975 (GRCm39) |
T111S |
probably damaging |
Het |
Zfp985 |
A |
G |
4: 147,668,232 (GRCm39) |
I367V |
probably benign |
Het |
|
Other mutations in Gramd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02983:Gramd4
|
APN |
15 |
86,011,219 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGTCCTTGTACCTGACC -3'
(R):5'- TCTGGGCCTCCTGTAACTGTATG -3'
Sequencing Primer
(F):5'- CCTTGTACCTGACCTGTAGGAG -3'
(R):5'- TGTAACTGTATGGCGCCCAC -3'
|
Posted On |
2018-04-02 |