Mutagenetix > Incidental Mutation

Incidental Mutation 'R7922:Gramd4'

648483

Institutional Source

Beutler Lab

Gene Symbol

Gramd4

Ensembl Gene

ENSMUSG00000035900

Gene Name

GRAM domain containing 4

Synonyms

MMRRC Submission

045969-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7922 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86057695-86137634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86131958 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 503 (H503Q)

Ref Sequence

ENSEMBL: ENSMUSP00000086321 (fasta)

Gene Model

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

AlphaFold

Q8CB44

Predicted Effect

probably benign
Transcript: ENSMUST00000088931
AA Change: H503Q

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000086321
Gene: ENSMUSG00000035900
AA Change: H503Q

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 benign
Transcript: ENSMUST00000138134
AA Change: H478Q

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120796
Gene: ENSMUSG00000035900
AA Change: H478Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,164,406 (GRCm38)	T638M	possibly damaging	Het
4930546C10Rik	A	G	18: 68,949,996 (GRCm38)		probably null	Het
Abi3	A	T	11: 95,832,793 (GRCm38)	Y342N	unknown	Het
Adk	G	A	14: 21,318,043 (GRCm38)	V195I	probably benign	Het
Ago2	C	T	15: 73,126,526 (GRCm38)	V268M	possibly damaging	Het
Apaf1	T	C	10: 90,999,753 (GRCm38)	I1077V	probably benign	Het
Arap1	A	T	7: 101,404,414 (GRCm38)	K1317*	probably null	Het
Auts2	T	A	5: 131,440,373 (GRCm38)	D493V		Het
Baz1b	A	T	5: 135,231,679 (GRCm38)	Q1110L	probably damaging	Het
Brsk2	T	A	7: 141,993,220 (GRCm38)	S467T	possibly damaging	Het
Btbd9	A	T	17: 30,274,884 (GRCm38)	M511K	probably benign	Het
Cdh23	T	A	10: 60,382,706 (GRCm38)	Y1385F	probably benign	Het
Cfap100	A	C	6: 90,403,980 (GRCm38)	L427V	unknown	Het
Cnga1	A	G	5: 72,604,882 (GRCm38)	F430L	possibly damaging	Het
Dnhd1	A	T	7: 105,668,514 (GRCm38)	D472V	probably damaging	Het
Dock2	T	A	11: 34,707,327 (GRCm38)	E339V	probably benign	Het
Eif3a	A	T	19: 60,775,842 (GRCm38)	V379E	probably damaging	Het
Erich4	T	A	7: 25,615,743 (GRCm38)	N36Y	probably damaging	Het
Fam60a	T	A	6: 148,926,146 (GRCm38)	T125S	probably benign	Het
Frem2	T	C	3: 53,653,304 (GRCm38)	T1261A	probably damaging	Het
Fzd6	A	T	15: 39,031,108 (GRCm38)	D223V	probably damaging	Het
Gabra2	A	T	5: 71,007,972 (GRCm38)	Y218*	probably null	Het
Gcn1l1	G	T	5: 115,614,468 (GRCm38)	M2177I	probably benign	Het
Ghr	G	A	15: 3,341,074 (GRCm38)	T103I	possibly damaging	Het
Gipc1	T	C	8: 83,661,228 (GRCm38)	V79A	probably benign	Het
Gm10031	A	T	1: 156,524,992 (GRCm38)	L254F	probably damaging	Het
Gm13272	T	A	4: 88,780,340 (GRCm38)	V164D	probably damaging	Het
Gstm4	A	T	3: 108,044,671 (GRCm38)	M1K	probably null	Het
Heatr5b	T	A	17: 78,760,559 (GRCm38)	Q1800L	probably benign	Het
Hectd1	T	A	12: 51,790,195 (GRCm38)	K826*	probably null	Het
Hoxa9	T	C	6: 52,224,309 (GRCm38)	I251V	possibly damaging	Het
Il2ra	A	T	2: 11,674,366 (GRCm38)	I46F	possibly damaging	Het
Ints2	T	A	11: 86,244,627 (GRCm38)	R320S	probably benign	Het
Iscu	G	A	5: 113,774,349 (GRCm38)	R60Q	unknown	Het
Iscu	A	T	5: 113,774,282 (GRCm38)	N46I	probably damaging	Het
Kcnk3	A	T	5: 30,588,531 (GRCm38)	H72L	probably damaging	Het
Kmt2a	T	G	9: 44,842,860 (GRCm38)	S1228R	unknown	Het
Mbl2	T	A	19: 30,239,238 (GRCm38)	L150Q	probably damaging	Het
Med13	A	T	11: 86,271,005 (GRCm38)	F2166Y	probably damaging	Het
Mterf4	A	C	1: 93,301,553 (GRCm38)	L246*	probably null	Het
Muc16	T	C	9: 18,584,825 (GRCm38)	Q6690R	probably benign	Het
Myh10	T	A	11: 68,808,893 (GRCm38)	L1722Q	possibly damaging	Het
Neurod2	T	C	11: 98,327,628 (GRCm38)	M237V	probably benign	Het
Olfml1	A	G	7: 107,571,149 (GRCm38)	Y81C	probably damaging	Het
Olfr735	A	G	14: 50,346,415 (GRCm38)	V9A	probably benign	Het
Pcdhga7	A	T	18: 37,716,173 (GRCm38)	N411I	probably benign	Het
Pcdhgb8	T	C	18: 37,763,949 (GRCm38)	F691L	probably benign	Het
Pik3c2a	A	G	7: 116,391,282 (GRCm38)	V481A	probably damaging	Het
Pik3r6	A	T	11: 68,533,875 (GRCm38)	R435S	probably benign	Het
Pkd1l1	G	A	11: 8,849,013 (GRCm38)	H2250Y		Het
Pkd1l1	A	G	11: 8,909,857 (GRCm38)	S1034P		Het
Plcd1	C	A	9: 119,074,652 (GRCm38)	R400L	possibly damaging	Het
Ppp2r1a	A	G	17: 20,954,617 (GRCm38)	T58A	probably benign	Het
Ppp5c	T	C	7: 17,027,800 (GRCm38)	E5G	possibly damaging	Het
Pradc1	A	C	6: 85,447,968 (GRCm38)	F82L	probably benign	Het
Prkag3	A	T	1: 74,741,257 (GRCm38)	S416R	probably benign	Het
Rab3gap2	T	C	1: 185,249,920 (GRCm38)	C390R	probably benign	Het
Rhot1	A	G	11: 80,265,803 (GRCm38)	T655A	probably benign	Het
Rorc	A	G	3: 94,391,188 (GRCm38)	I348V	probably damaging	Het
Ryr1	A	T	7: 29,097,224 (GRCm38)	V1051E	probably benign	Het
Sema5b	GCAC	GC	16: 35,658,256 (GRCm38)		probably null	Het
Serpinb3c	G	A	1: 107,272,014 (GRCm38)	T259I	probably damaging	Het
Sh3gl1	A	T	17: 56,019,438 (GRCm38)	M70K	probably damaging	Het
Slc7a4	C	T	16: 17,573,366 (GRCm38)	V607I	probably benign	Het
Spop	A	T	11: 95,471,328 (GRCm38)	N62Y	probably damaging	Het
Spout1	A	G	2: 30,176,811 (GRCm38)	F130S	probably benign	Het
Tab1	A	G	15: 80,158,865 (GRCm38)	H420R	possibly damaging	Het
Tecpr2	CA	C	12: 110,932,642 (GRCm38)		probably null	Het
Tnxb	G	C	17: 34,714,603 (GRCm38)	K2332N	probably damaging	Het
Togaram1	T	C	12: 64,967,738 (GRCm38)	Y588H	probably damaging	Het
Trim71	G	A	9: 114,513,085 (GRCm38)	R710C	probably damaging	Het
Tsen54	C	T	11: 115,820,782 (GRCm38)	Q342*	probably null	Het
Ube2r2	T	A	4: 41,190,812 (GRCm38)	N235K	unknown	Het
Utrn	C	A	10: 12,667,527 (GRCm38)	K1792N	possibly damaging	Het
Vmn1r122	A	G	7: 21,133,662 (GRCm38)	I156T	possibly damaging	Het
Vmn1r94	T	C	7: 20,167,711 (GRCm38)	T223A	possibly damaging	Het
Vmn2r120	G	A	17: 57,524,683 (GRCm38)	R369W	probably damaging	Het
Vwa7	G	T	17: 35,024,433 (GRCm38)	A717S	possibly damaging	Het
Zc3h4	T	A	7: 16,425,722 (GRCm38)	C398S	unknown	Het
Zc3hc1	T	A	6: 30,390,875 (GRCm38)	E43V	possibly damaging	Het
Zfp101	A	T	17: 33,381,537 (GRCm38)	V415D	possibly damaging	Het
Zfp553	A	G	7: 127,236,596 (GRCm38)	H441R	probably damaging	Het

Other mutations in Gramd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02983:Gramd4	APN	15	86,127,018 (GRCm38)	missense	probably damaging	0.97
Grasping	UTSW	15	86,091,503 (GRCm38)	missense	probably damaging	0.99
R0053:Gramd4	UTSW	15	86,130,138 (GRCm38)	splice site	probably benign
R0622:Gramd4	UTSW	15	86,091,389 (GRCm38)	missense	probably damaging	1.00
R1401:Gramd4	UTSW	15	86,125,196 (GRCm38)	missense	probably damaging	1.00
R1741:Gramd4	UTSW	15	86,091,529 (GRCm38)	splice site	probably null
R1840:Gramd4	UTSW	15	86,130,192 (GRCm38)	critical splice donor site	probably null
R1968:Gramd4	UTSW	15	86,132,905 (GRCm38)	missense	probably damaging	1.00
R2909:Gramd4	UTSW	15	86,122,183 (GRCm38)	nonsense	probably null
R4345:Gramd4	UTSW	15	86,134,893 (GRCm38)	missense	probably damaging	1.00
R4431:Gramd4	UTSW	15	86,130,160 (GRCm38)	missense	probably damaging	1.00
R4832:Gramd4	UTSW	15	86,134,856 (GRCm38)	missense	probably benign
R5164:Gramd4	UTSW	15	86,100,831 (GRCm38)	missense	probably benign	0.16
R5216:Gramd4	UTSW	15	86,134,785 (GRCm38)	critical splice acceptor site	probably null
R5898:Gramd4	UTSW	15	86,100,784 (GRCm38)	missense	probably damaging	1.00
R5959:Gramd4	UTSW	15	86,127,557 (GRCm38)	missense	probably damaging	0.99
R6303:Gramd4	UTSW	15	86,134,919 (GRCm38)	missense	possibly damaging	0.72
R6304:Gramd4	UTSW	15	86,134,919 (GRCm38)	missense	possibly damaging	0.72
R6678:Gramd4	UTSW	15	86,091,504 (GRCm38)	missense	possibly damaging	0.52
R6678:Gramd4	UTSW	15	86,091,503 (GRCm38)	missense	probably damaging	0.99
R6980:Gramd4	UTSW	15	86,131,969 (GRCm38)	missense	probably benign	0.17
R7371:Gramd4	UTSW	15	86,135,406 (GRCm38)	missense	probably benign	0.04
R7557:Gramd4	UTSW	15	86,100,900 (GRCm38)	nonsense	probably null
R8874:Gramd4	UTSW	15	86,100,892 (GRCm38)	missense	probably damaging	0.97
R9127:Gramd4	UTSW	15	86,091,324 (GRCm38)	missense	probably benign	0.00
R9652:Gramd4	UTSW	15	86,131,959 (GRCm38)	missense	probably damaging	0.97
R9711:Gramd4	UTSW	15	86,130,550 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTGTCAGTTTGCAGCTGG -3'
(R):5'- ATGTCACCTCTCCTGTGAAGTAAG -3'

Sequencing Primer
(F):5'- AGGCCAGTGTGTCCCATAC -3'
(R):5'- CACCTCTCCTGTGAAGTAAGTTTGG -3'

Posted On

2020-09-15