Mutagenetix > Incidental Mutations

Incidental Mutation 'R8874:Gramd4'

676492

Institutional Source

Beutler Lab

Gene Symbol

Gramd4

Ensembl Gene

ENSMUSG00000035900

Gene Name

GRAM domain containing 4

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8874 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86057695-86137634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86100892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 143 (H143R)

Ref Sequence

ENSEMBL: ENSMUSP00000086321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088931] [ENSMUST00000123349] [ENSMUST00000138134]

AlphaFold

Q8CB44

Predicted Effect

probably damaging
Transcript: ENSMUST00000088931
AA Change: H143R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086321
Gene: ENSMUSG00000035900
AA Change: H143R

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 damaging
Transcript: ENSMUST00000123349
AA Change: H118R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117468
Gene: ENSMUSG00000035900
AA Change: H118R

Domain	Start	End	E-Value	Type
coiled coil region	107	165	N/A	INTRINSIC
transmembrane domain	276	298	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000138134
AA Change: H118R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120796
Gene: ENSMUSG00000035900
AA Change: H118R

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

Meta Mutation Damage Score

0.0951

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,825,671	M615V	possibly damaging	Het
Bud31	T	C	5: 145,142,569		probably null	Het
Ccdc42	A	G	11: 68,594,570	K105E	probably damaging	Het
Cenpq	A	G	17: 40,931,660	S93P	probably damaging	Het
Cfh	A	G	1: 140,086,421	F1222L	probably damaging	Het
Cpxm2	A	T	7: 132,106,281		probably null	Het
Cubn	T	C	2: 13,360,346	D1627G	possibly damaging	Het
Diras2	T	C	13: 52,507,701	E190G	possibly damaging	Het
Dpyd	G	C	3: 118,999,332	A563P	probably damaging	Het
Efcab8	T	A	2: 153,798,649	N343K		Het
Fam26d	A	G	10: 34,044,268	M1T	probably null	Het
Gbp2b	A	G	3: 142,608,279	E440G	probably benign	Het
Ghrhr	T	C	6: 55,378,906	F30L	probably benign	Het
Gm3404	T	A	5: 146,528,143	V231E	possibly damaging	Het
Greb1l	A	T	18: 10,544,896	E1408V	probably benign	Het
Hdgfl1	T	G	13: 26,770,024	Y22S	probably damaging	Het
Heatr1	T	A	13: 12,430,912	V1590D	probably damaging	Het
Hecw2	A	T	1: 53,904,449		probably benign	Het
Igkv8-30	C	A	6: 70,117,166	R87L	probably damaging	Het
Il18rap	T	A	1: 40,525,346	C179S	probably damaging	Het
Jph4	T	C	14: 55,114,077	T161A	possibly damaging	Het
Klhdc7a	A	T	4: 139,967,585	M17K	probably damaging	Het
Kpnb1	T	C	11: 97,165,383	N699S	probably benign	Het
Lama3	T	C	18: 12,449,586		probably null	Het
Lca5	A	G	9: 83,395,450	F614L	probably damaging	Het
Lyst	T	C	13: 13,637,562	V853A	probably benign	Het
Map2	A	T	1: 66,416,364	T1406S	probably damaging	Het
Med23	A	G	10: 24,895,719	I552V	possibly damaging	Het
Myo1h	A	T	5: 114,334,102	I414L		Het
Myom1	A	G	17: 71,106,204	K1271E	probably damaging	Het
Olfr126	A	T	17: 37,850,784	K64M	probably damaging	Het
Olfr133	T	A	17: 38,148,732	V48E	possibly damaging	Het
Olfr873	T	C	9: 20,300,773	F192S	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prdm2	A	T	4: 143,133,215	D1168E	possibly damaging	Het
Prr5	T	C	15: 84,699,715	M181T	probably damaging	Het
Ptpdc1	A	G	13: 48,590,692	I151T	probably damaging	Het
Ptpn7	T	C	1: 135,139,266	V287A	possibly damaging	Het
Ptprz1	T	C	6: 23,042,748	V2057A		Het
Rad17	G	T	13: 100,617,819	A631E	probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,804,437		probably benign	Het
Slc22a2	A	T	17: 12,609,979	D324V	probably benign	Het
Ssfa2	A	G	2: 79,657,340	K589R	probably benign	Het
Strc	C	T	2: 121,374,872		probably null	Het
Taf4b	T	G	18: 14,830,070	D622E	probably benign	Het
Tgfbrap1	A	C	1: 43,075,813	N42K	probably benign	Het
Uvrag	A	G	7: 98,979,736	F375L	probably benign	Het
Vmn2r76	A	G	7: 86,228,791	I466T	probably damaging	Het
Vmn2r8	T	C	5: 108,808,751	K2E	probably damaging	Het
Vps13d	T	C	4: 145,155,202	T1274A		Het
Vwa3b	C	T	1: 37,035,758	A2V	possibly damaging	Het
Ylpm1	T	C	12: 85,069,620	V2092A	probably damaging	Het
Zfp638	T	C	6: 83,969,153	S1055P	probably damaging	Het
Zzef1	A	G	11: 72,863,989	T982A	probably benign	Het

Other mutations in Gramd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02983:Gramd4	APN	15	86127018	missense	probably damaging	0.97
Grasping	UTSW	15	86091503	missense	probably damaging	0.99
R0053:Gramd4	UTSW	15	86130138	splice site	probably benign
R0622:Gramd4	UTSW	15	86091389	missense	probably damaging	1.00
R1401:Gramd4	UTSW	15	86125196	missense	probably damaging	1.00
R1741:Gramd4	UTSW	15	86091529	splice site	probably null
R1840:Gramd4	UTSW	15	86130192	critical splice donor site	probably null
R1968:Gramd4	UTSW	15	86132905	missense	probably damaging	1.00
R2909:Gramd4	UTSW	15	86122183	nonsense	probably null
R4345:Gramd4	UTSW	15	86134893	missense	probably damaging	1.00
R4431:Gramd4	UTSW	15	86130160	missense	probably damaging	1.00
R4832:Gramd4	UTSW	15	86134856	missense	probably benign
R5164:Gramd4	UTSW	15	86100831	missense	probably benign	0.16
R5216:Gramd4	UTSW	15	86134785	critical splice acceptor site	probably null
R5898:Gramd4	UTSW	15	86100784	missense	probably damaging	1.00
R5959:Gramd4	UTSW	15	86127557	missense	probably damaging	0.99
R6303:Gramd4	UTSW	15	86134919	missense	possibly damaging	0.72
R6304:Gramd4	UTSW	15	86134919	missense	possibly damaging	0.72
R6678:Gramd4	UTSW	15	86091503	missense	probably damaging	0.99
R6678:Gramd4	UTSW	15	86091504	missense	possibly damaging	0.52
R6980:Gramd4	UTSW	15	86131969	missense	probably benign	0.17
R7371:Gramd4	UTSW	15	86135406	missense	probably benign	0.04
R7557:Gramd4	UTSW	15	86100900	nonsense	probably null
R7922:Gramd4	UTSW	15	86131958	missense	probably benign	0.07
R9127:Gramd4	UTSW	15	86091324	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGGAATCAGGCAAGGCTG -3'
(R):5'- CACGTTCAGAGGGAAATGTCAC -3'

Sequencing Primer
(F):5'- CAAGGCTGCTTCTGTGTGGTC -3'
(R):5'- AAGTCCATGTCTTGGTCCAAG -3'

Posted On

2021-07-15