Incidental Mutation 'R5216:Gramd4'
| ID |
499952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gramd4
|
| Ensembl Gene |
ENSMUSG00000035900 |
| Gene Name |
GRAM domain containing 4 |
| Synonyms |
|
| MMRRC Submission |
042789-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5216 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
85941896-86021835 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to A
at 86018986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044332]
[ENSMUST00000088931]
[ENSMUST00000123349]
[ENSMUST00000138134]
[ENSMUST00000138134]
[ENSMUST00000138134]
[ENSMUST00000138134]
[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 benign
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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 |
|---|
| 2700097O09Rik |
A |
T |
12: 55,107,947 (GRCm39) |
V84D |
probably damaging |
Het |
| Abcb1b |
T |
C |
5: 8,863,705 (GRCm39) |
V220A |
probably benign |
Het |
| Actg1 |
A |
T |
11: 120,238,580 (GRCm39) |
M82K |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,835,975 (GRCm39) |
S103P |
probably benign |
Het |
| Aldh1b1 |
G |
T |
4: 45,803,652 (GRCm39) |
G397C |
probably damaging |
Het |
| Arhgef3 |
A |
G |
14: 27,123,799 (GRCm39) |
T507A |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,701,910 (GRCm39) |
D682G |
probably damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,159,102 (GRCm39) |
I783T |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,516,808 (GRCm39) |
I362V |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,920,465 (GRCm39) |
I168K |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,466,445 (GRCm39) |
Y2070N |
probably damaging |
Het |
| Cabp7 |
A |
G |
11: 4,688,873 (GRCm39) |
I199T |
probably damaging |
Het |
| Cacng5 |
A |
G |
11: 107,768,315 (GRCm39) |
F231L |
possibly damaging |
Het |
| Cngb3 |
T |
A |
4: 19,415,729 (GRCm39) |
V413D |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,021,071 (GRCm39) |
E481K |
possibly damaging |
Het |
| Cspg4b |
G |
A |
13: 113,478,947 (GRCm39) |
C1497Y |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,644,665 (GRCm39) |
I560N |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,833 (GRCm39) |
D230G |
probably damaging |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,594,695 (GRCm39) |
N317Y |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,346,757 (GRCm39) |
S623P |
probably benign |
Het |
| Klhl20 |
A |
G |
1: 160,921,249 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lpin2 |
C |
T |
17: 71,549,755 (GRCm39) |
S640L |
probably damaging |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Mgll |
T |
A |
6: 88,743,311 (GRCm39) |
C110* |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,675,120 (GRCm39) |
N251D |
possibly damaging |
Het |
| Or1e33 |
A |
T |
11: 73,738,262 (GRCm39) |
S230T |
probably damaging |
Het |
| Or52k2 |
A |
G |
7: 102,254,028 (GRCm39) |
T156A |
probably benign |
Het |
| Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
| Pfkl |
T |
G |
10: 77,845,504 (GRCm39) |
D5A |
probably damaging |
Het |
| Pik3c3 |
A |
G |
18: 30,406,029 (GRCm39) |
Y9C |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,359,043 (GRCm39) |
Y417* |
probably null |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,867,098 (GRCm39) |
M94K |
probably benign |
Het |
| Synrg |
A |
G |
11: 83,873,022 (GRCm39) |
T157A |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,478,118 (GRCm39) |
N102S |
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,661,149 (GRCm39) |
R101H |
probably damaging |
Het |
| Trmt2a |
A |
G |
16: 18,070,048 (GRCm39) |
D421G |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,090 (GRCm39) |
D57G |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,868,661 (GRCm39) |
L43P |
possibly damaging |
Het |
| Zfp113 |
C |
T |
5: 138,148,977 (GRCm39) |
D56N |
probably damaging |
Het |
| Zfp184 |
C |
T |
13: 22,134,406 (GRCm39) |
L69F |
probably damaging |
Het |
| Zyx |
T |
C |
6: 42,333,466 (GRCm39) |
V464A |
probably damaging |
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 |
|
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'- TATCCTTAGGGACCAGCCATGC -3'
(R):5'- TGAAACCACATCCCAGGGAG -3'
Sequencing Primer
(F):5'- TGCTGACACATGCCTTACACAG -3'
(R):5'- ATCCCAGGGAGGCTCACTC -3'
|
| Posted On |
2017-11-30 |
Incidental Mutation