Incidental Mutation 'R4345:Gramd4'
| ID |
324310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gramd4
|
| Ensembl Gene |
ENSMUSG00000035900 |
| Gene Name |
GRAM domain containing 4 |
| Synonyms |
|
| MMRRC Submission |
041666-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
85941896-86021835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86019094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 581
(S581P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086321
(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 |
probably damaging
Transcript: ENSMUST00000088931
AA Change: S581P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000086321
Gene: ENSMUSG00000035900
AA Change: S581P
| 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 |
silent
Transcript: ENSMUST00000138134
|
| SMART Domains |
Protein: ENSMUSP00000120796
Gene: ENSMUSG00000035900
| 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 |
0.3094 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
96% (47/49) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
T |
C |
12: 21,280,832 (GRCm39) |
W449R |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,329,602 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
C |
6: 122,827,659 (GRCm39) |
D186G |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
| Foxp4 |
G |
A |
17: 48,185,573 (GRCm39) |
T500M |
unknown |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,067,940 (GRCm39) |
V1816E |
possibly damaging |
Het |
| Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,337,084 (GRCm39) |
D224G |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Lactb2 |
T |
A |
1: 13,730,574 (GRCm39) |
Y34F |
probably damaging |
Het |
| Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,486,697 (GRCm39) |
I1261V |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,904,980 (GRCm39) |
|
probably null |
Het |
| Mcee |
T |
C |
7: 64,061,686 (GRCm39) |
L109P |
probably damaging |
Het |
| Mier3 |
A |
G |
13: 111,841,817 (GRCm39) |
D124G |
probably damaging |
Het |
| Mrpl43 |
T |
C |
19: 44,994,549 (GRCm39) |
Y64C |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
| Nsd3 |
G |
C |
8: 26,131,333 (GRCm39) |
G233R |
probably benign |
Het |
| Or2ak7 |
A |
G |
11: 58,574,771 (GRCm39) |
D24G |
possibly damaging |
Het |
| Or8k27 |
T |
A |
2: 86,276,189 (GRCm39) |
I46F |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,288,560 (GRCm39) |
T947A |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Pno1 |
A |
G |
11: 17,159,095 (GRCm39) |
S158P |
possibly damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,920 (GRCm39) |
S1192P |
probably damaging |
Het |
| Setbp1 |
T |
A |
18: 79,129,794 (GRCm39) |
E146V |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,076,087 (GRCm39) |
S27P |
probably benign |
Het |
| Sri |
G |
T |
5: 8,109,427 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,532,427 (GRCm39) |
V2895I |
probably benign |
Het |
| Tgfbrap1 |
T |
C |
1: 43,095,866 (GRCm39) |
D524G |
probably benign |
Het |
| Them4 |
A |
G |
3: 94,237,172 (GRCm39) |
T211A |
possibly damaging |
Het |
| Thoc2l |
A |
G |
5: 104,669,315 (GRCm39) |
E1279G |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,917,778 (GRCm39) |
L80P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,586,660 (GRCm39) |
N13423K |
possibly damaging |
Het |
| Usp10 |
T |
A |
8: 120,681,553 (GRCm39) |
L670Q |
probably damaging |
Het |
| Usp4 |
T |
A |
9: 108,245,222 (GRCm39) |
|
probably benign |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,963 (GRCm39) |
T162S |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,034,083 (GRCm39) |
N376S |
probably benign |
Het |
| Zswim6 |
G |
T |
13: 107,863,466 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCTGTTGCTAGGATGTCC -3'
(R):5'- AAGCTTTCTGGACCTTGTGTC -3'
Sequencing Primer
(F):5'- TAGGATGTCCTAGGCCTGC -3'
(R):5'- ACCTTGTGTCCATGGAGTAGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation