Mutagenetix > Incidental Mutations

Incidental Mutation 'R4125:Gramd3'

315382

Institutional Source

Beutler Lab

Gene Symbol

Gramd3

Ensembl Gene

ENSMUSG00000001700

Gene Name

GRAM domain containing 3

Synonyms

MMRRC Submission

041633-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4125 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56432132-56503792 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56485224 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 199 (S199P)

Ref Sequence

ENSEMBL: ENSMUSP00000068453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070166]

Predicted Effect

probably damaging
Transcript: ENSMUST00000070166
AA Change: S199P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068453
Gene: ENSMUSG00000001700
AA Change: S199P

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
low complexity region	86	104	N/A	INTRINSIC
GRAM	110	177	3.06e-23	SMART
transmembrane domain	342	364	N/A	INTRINSIC
coiled coil region	404	430	N/A	INTRINSIC

Meta Mutation Damage Score

0.8286

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	T	A	3: 98,161,363	C43S	probably damaging	Het
Adamts6	A	T	13: 104,312,904	Y274F	probably damaging	Het
Ap2b1	A	G	11: 83,365,645		probably null	Het
Atm	A	C	9: 53,450,621	L2732R	probably damaging	Het
Bbox1	A	G	2: 110,270,180	V224A	probably benign	Het
Bmpr1a	T	C	14: 34,434,733	D112G	probably benign	Het
Cdk19	A	G	10: 40,394,395	I67V	probably benign	Het
Cds2	A	G	2: 132,297,271	T145A	probably benign	Het
Chd9	A	G	8: 91,051,284	D2641G	probably damaging	Het
Chn2	G	T	6: 54,272,978	R24M	probably damaging	Het
Chuk	T	C	19: 44,100,174	I121V	probably null	Het
Ctsr	A	T	13: 61,161,845	D183E	probably benign	Het
Elp3	T	C	14: 65,560,181	E347G	possibly damaging	Het
Fam160a1	A	G	3: 85,665,383	S988P	possibly damaging	Het
Gm13078	C	T	4: 143,726,280	R94*	probably null	Het
Gnas	A	G	2: 174,300,165	N709S	possibly damaging	Het
Gtf3c1	A	T	7: 125,647,450	C1562*	probably null	Het
Ifit1bl1	T	A	19: 34,594,788	I90F	probably damaging	Het
Igf2r	A	T	17: 12,702,254	H1313Q	possibly damaging	Het
Ighj4	T	C	12: 113,428,556		probably benign	Het
Kansl2	G	T	15: 98,531,755	P132Q	possibly damaging	Het
Lman1	T	C	18: 65,987,861	H430R	possibly damaging	Het
Lrrk2	T	C	15: 91,815,483	I2511T	probably benign	Het
Lvrn	C	A	18: 46,876,969	P395T	possibly damaging	Het
Myrip	C	A	9: 120,464,698	S753*	probably null	Het
Nectin4	A	G	1: 171,385,733	S408G	probably benign	Het
Olfr629	T	C	7: 103,741,000	K80R	probably benign	Het
Olfr761	A	G	17: 37,952,790	I78T	probably benign	Het
Pcdhb13	T	C	18: 37,443,820	I417T	probably damaging	Het
Per2	T	C	1: 91,429,450	T664A	possibly damaging	Het
Plec	A	T	15: 76,172,762	L4347Q	probably damaging	Het
Poln	A	G	5: 34,103,951	S561P	probably benign	Het
Polr1a	T	C	6: 71,965,706	F1177L	probably benign	Het
Ptprb	A	T	10: 116,353,849	R1804S	probably benign	Het
Rhof	C	T	5: 123,119,525	V181M	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Slc22a12	T	C	19: 6,538,788	E281G	probably damaging	Het
Slco6b1	T	A	1: 96,987,897		noncoding transcript	Het
Stac	C	A	9: 111,604,058		probably null	Het
Tcof1	C	A	18: 60,819,601	A898S	unknown	Het
Tep1	C	T	14: 50,843,734	R1349Q	possibly damaging	Het
Thoc6	A	T	17: 23,669,345		probably benign	Het
Tmem179	A	T	12: 112,511,027	F8I	possibly damaging	Het
Tnpo3	A	G	6: 29,560,092	L684P	probably damaging	Het
Ubash3a	T	C	17: 31,237,275	Y506H	probably damaging	Het
Umps	G	A	16: 33,956,918	Q431*	probably null	Het
Unc13c	A	G	9: 73,574,007		probably null	Het
Vmn1r210	A	T	13: 22,827,609	M169K	probably benign	Het
Zfp946	C	T	17: 22,454,567	Q101*	probably null	Het

Other mutations in Gramd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01582:Gramd3	APN	18	56485416	missense	probably damaging	0.99
IGL01903:Gramd3	APN	18	56474029	missense	probably damaging	0.99
IGL02203:Gramd3	APN	18	56478954	critical splice donor site	probably null
IGL03210:Gramd3	APN	18	56474098	missense	probably benign
PIT4283001:Gramd3	UTSW	18	56489663	missense	probably damaging	1.00
R0432:Gramd3	UTSW	18	56474069	missense	probably benign	0.00
R1623:Gramd3	UTSW	18	56432351	missense	probably benign	0.00
R4019:Gramd3	UTSW	18	56478954	critical splice donor site	probably null
R4750:Gramd3	UTSW	18	56432300	missense	probably benign	0.44
R4927:Gramd3	UTSW	18	56485451	missense	probably damaging	0.96
R5495:Gramd3	UTSW	18	56482622	missense	probably damaging	1.00
R5866:Gramd3	UTSW	18	56474036	missense	possibly damaging	0.93
R6443:Gramd3	UTSW	18	56485385	missense	probably benign	0.00
R6672:Gramd3	UTSW	18	56432336	missense	possibly damaging	0.49
R7030:Gramd3	UTSW	18	56485249	missense	probably damaging	1.00
R7099:Gramd3	UTSW	18	56491945	missense	probably benign	0.01
R7162:Gramd3	UTSW	18	56485457	critical splice donor site	probably null
R7854:Gramd3	UTSW	18	56478854	missense	probably damaging	1.00
R7937:Gramd3	UTSW	18	56478854	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGTTATAGTTAAAGCAACGGTC -3'
(R):5'- ACTGTTACCAACACTTGTGTTCTG -3'

Sequencing Primer
(F):5'- TTCACACTCTGATGACCTGAGGG -3'
(R):5'- CACTTGTGTTCTGAAATCAGGC -3'

Posted On

2015-05-14