Incidental Mutation 'R6678:Gramd4'
ID |
527361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gramd4
|
Ensembl Gene |
ENSMUSG00000035900 |
Gene Name |
GRAM domain containing 4 |
Synonyms |
|
MMRRC Submission |
044797-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6678 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
85941896-86021835 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 85975705 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 74
(S74T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088931]
[ENSMUST00000123349]
[ENSMUST00000138134]
|
AlphaFold |
Q8CB44 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088931
AA Change: S99T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000086321 Gene: ENSMUSG00000035900 AA Change: S99T
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 |
possibly damaging
Transcript: ENSMUST00000123349
AA Change: S74T
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000117468 Gene: ENSMUSG00000035900 AA Change: S74T
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 benign
Transcript: ENSMUST00000138134
AA Change: S74T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000120796 Gene: ENSMUSG00000035900 AA Change: S74T
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: ENSMUST00000147286
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159271
|
Meta Mutation Damage Score |
0.0583 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
97% (37/38) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,499,891 (GRCm39) |
N644S |
possibly damaging |
Het |
Agl |
C |
A |
3: 116,546,969 (GRCm39) |
V1294F |
probably damaging |
Het |
Ash2l |
A |
C |
8: 26,323,805 (GRCm39) |
W125G |
probably damaging |
Het |
Dap |
C |
T |
15: 31,273,396 (GRCm39) |
T51M |
probably benign |
Het |
Dnah12 |
G |
A |
14: 26,456,847 (GRCm39) |
R871H |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,390,333 (GRCm39) |
I307T |
probably benign |
Het |
Gdap1l1 |
T |
A |
2: 163,280,574 (GRCm39) |
S37T |
probably benign |
Het |
Gm43302 |
G |
T |
5: 105,438,820 (GRCm39) |
Q23K |
probably benign |
Het |
Golga2 |
T |
C |
2: 32,189,072 (GRCm39) |
V227A |
probably damaging |
Het |
Hsph1 |
A |
C |
5: 149,541,962 (GRCm39) |
S755A |
probably benign |
Het |
Inppl1 |
A |
G |
7: 101,481,477 (GRCm39) |
V235A |
probably damaging |
Het |
Kcnc1 |
A |
G |
7: 46,047,229 (GRCm39) |
H43R |
probably benign |
Het |
Klhl41 |
T |
G |
2: 69,501,188 (GRCm39) |
S216R |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,704,293 (GRCm39) |
E1162G |
possibly damaging |
Het |
Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
Ms4a13 |
T |
C |
19: 11,161,222 (GRCm39) |
I106V |
probably benign |
Het |
Myo1f |
G |
A |
17: 33,794,819 (GRCm39) |
D20N |
probably damaging |
Het |
Ndel1 |
T |
C |
11: 68,724,239 (GRCm39) |
T245A |
possibly damaging |
Het |
Or5al1 |
A |
T |
2: 85,990,529 (GRCm39) |
F62I |
probably damaging |
Het |
P2rx6 |
C |
A |
16: 17,388,820 (GRCm39) |
N360K |
probably benign |
Het |
Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
Plcl1 |
A |
G |
1: 55,734,935 (GRCm39) |
K92R |
probably benign |
Het |
Prelp |
C |
T |
1: 133,842,513 (GRCm39) |
D211N |
probably benign |
Het |
Rgl1 |
T |
C |
1: 152,400,475 (GRCm39) |
Y677C |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rreb1 |
G |
T |
13: 38,083,675 (GRCm39) |
D113Y |
probably damaging |
Het |
Sf1 |
T |
A |
19: 6,424,543 (GRCm39) |
|
probably null |
Het |
Sh3bp1 |
T |
C |
15: 78,792,714 (GRCm39) |
|
probably null |
Het |
Shprh |
T |
A |
10: 11,042,289 (GRCm39) |
D757E |
probably benign |
Het |
Slc6a1 |
A |
G |
6: 114,284,737 (GRCm39) |
K81R |
probably benign |
Het |
Spata31e4 |
A |
G |
13: 50,855,946 (GRCm39) |
K528R |
probably benign |
Het |
Ttc22 |
T |
A |
4: 106,480,242 (GRCm39) |
S165R |
probably benign |
Het |
Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
Vwa7 |
C |
A |
17: 35,238,776 (GRCm39) |
A288D |
probably damaging |
Het |
Wdpcp |
A |
G |
11: 21,671,105 (GRCm39) |
I449V |
probably benign |
Het |
Wdsub1 |
G |
A |
2: 59,692,975 (GRCm39) |
T313I |
probably benign |
Het |
Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
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 |
R6304:Gramd4
|
UTSW |
15 |
86,019,120 (GRCm39) |
missense |
possibly damaging |
0.72 |
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'- GGCAGCTAGTGATGTGCTTC -3'
(R):5'- AGAGAATTGGGCGTGTCTAAATTG -3'
Sequencing Primer
(F):5'- GCAGCTAGTGATGTGCTTCATTCATC -3'
(R):5'- CGTGTCTAAATTGCCTGGTCAG -3'
|
Posted On |
2018-07-23 |