Incidental Mutation 'R6304:Gramd4'
ID |
509215 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gramd4
|
Ensembl Gene |
ENSMUSG00000035900 |
Gene Name |
GRAM domain containing 4 |
Synonyms |
|
MMRRC Submission |
044380-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6304 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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: 98.4%
|
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: 45 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 |
Cbll1 |
A |
G |
12: 31,544,588 (GRCm39) |
|
probably null |
Het |
Cped1 |
A |
T |
6: 22,016,922 (GRCm39) |
R90S |
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,108,688 (GRCm39) |
L1905Q |
probably damaging |
Het |
Dnai4 |
T |
C |
4: 102,944,553 (GRCm39) |
E266G |
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 |
G6pc1 |
A |
G |
11: 101,258,735 (GRCm39) |
D38G |
probably damaging |
Het |
Ifna5 |
T |
C |
4: 88,754,147 (GRCm39) |
V129A |
probably benign |
Het |
Igsf9b |
C |
T |
9: 27,253,871 (GRCm39) |
R1354W |
probably benign |
Het |
Kcnh3 |
T |
C |
15: 99,124,919 (GRCm39) |
V123A |
probably benign |
Het |
Kcnh7 |
A |
T |
2: 62,594,960 (GRCm39) |
Y703* |
probably null |
Het |
Kdm2b |
A |
G |
5: 123,019,807 (GRCm39) |
S260P |
probably benign |
Het |
Kdm6b |
G |
T |
11: 69,295,084 (GRCm39) |
T1061K |
unknown |
Het |
Lingo4 |
G |
A |
3: 94,310,513 (GRCm39) |
G484R |
probably damaging |
Het |
Lpar1 |
T |
C |
4: 58,487,013 (GRCm39) |
Y86C |
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 |
Miip |
T |
C |
4: 147,947,540 (GRCm39) |
M207V |
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,882,684 (GRCm39) |
N456S |
possibly damaging |
Het |
Mup4 |
T |
C |
4: 59,960,084 (GRCm39) |
H60R |
possibly damaging |
Het |
Naip5 |
C |
T |
13: 100,359,674 (GRCm39) |
A521T |
possibly 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 |
Osbpl3 |
A |
G |
6: 50,289,654 (GRCm39) |
S604P |
probably damaging |
Het |
Pcdhb6 |
C |
T |
18: 37,468,974 (GRCm39) |
R632* |
probably null |
Het |
Pcdhb9 |
T |
A |
18: 37,534,420 (GRCm39) |
V138E |
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 |
Pomt1 |
T |
A |
2: 32,140,802 (GRCm39) |
L478Q |
probably damaging |
Het |
Robo2 |
T |
A |
16: 73,755,196 (GRCm39) |
Y779F |
probably damaging |
Het |
Sesn3 |
A |
T |
9: 14,233,857 (GRCm39) |
|
probably null |
Het |
Sh3gl1 |
A |
T |
17: 56,343,431 (GRCm39) |
F10Y |
probably benign |
Het |
Spata31h1 |
T |
A |
10: 82,126,202 (GRCm39) |
K2269N |
possibly damaging |
Het |
Spsb1 |
C |
T |
4: 149,991,188 (GRCm39) |
V127I |
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 |
Ttn |
G |
T |
2: 76,746,079 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,721,443 (GRCm39) |
|
probably benign |
Het |
Usp54 |
T |
C |
14: 20,611,036 (GRCm39) |
D1260G |
possibly damaging |
Het |
Vmn1r3 |
T |
A |
4: 3,184,975 (GRCm39) |
T111S |
probably damaging |
Het |
Vmn2r51 |
T |
C |
7: 9,832,164 (GRCm39) |
Q474R |
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 |
R6303: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'- GTGTCCTTGTACCTGACCTGTAG -3'
(R):5'- CTGGGCCTCCTGTAACTGTATG -3'
Sequencing Primer
(F):5'- ACCTGACCTGTAGGAGTGTATC -3'
(R):5'- TGTAACTGTATGGCGCCCAC -3'
|
Posted On |
2018-04-02 |