Mutagenetix > Incidental Mutation

Incidental Mutation 'R7975:Gm3543'

650865

Institutional Source

Beutler Lab

Gene Symbol

Gm3543

Ensembl Gene

ENSMUSG00000093945

Gene Name

predicted gene 3543

Synonyms

MMRRC Submission

046018-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R7975 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

41799830-41805282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41802122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 121 (M121V)

Ref Sequence

ENSEMBL: ENSMUSP00000107501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064162] [ENSMUST00000111870] [ENSMUST00000168972] [ENSMUST00000179947]

AlphaFold

D3Z235

Predicted Effect

probably benign
Transcript: ENSMUST00000064162

SMART Domains

Protein: ENSMUSP00000064211
Gene: ENSMUSG00000052334

Domain	Start	End	E-Value	Type
Pfam:Takusan	10	93	3.7e-35	PFAM
coiled coil region	108	141	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111870
AA Change: M121V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107501
Gene: ENSMUSG00000093945
AA Change: M121V

Domain	Start	End	E-Value	Type
Pfam:Takusan	8	89	4.4e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168972

SMART Domains

Protein: ENSMUSP00000127922
Gene: ENSMUSG00000052334

Domain	Start	End	E-Value	Type
Pfam:Takusan	10	93	8.6e-36	PFAM
coiled coil region	108	141	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179947
AA Change: M65V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000136563
Gene: ENSMUSG00000093945
AA Change: M65V

Domain	Start	End	E-Value	Type
Pfam:Takusan	1	33	6.7e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	T	C	10: 88,952,847 (GRCm39)	I60V	possibly damaging	Het
Ano5	T	A	7: 51,216,286 (GRCm39)	M381K	probably null	Het
Aox1	T	A	1: 58,348,187 (GRCm39)	I635K	probably benign	Het
Bdp1	C	T	13: 100,156,884 (GRCm39)	C2436Y	probably benign	Het
Bod1l	T	C	5: 41,973,620 (GRCm39)	R2565G	possibly damaging	Het
Brd2	A	T	17: 34,334,424 (GRCm39)	I245N	probably damaging	Het
Capn9	G	A	8: 125,325,515 (GRCm39)	V258M	probably damaging	Het
Ccar2	C	G	14: 70,380,918 (GRCm39)	C324S	possibly damaging	Het
Cd209b	A	T	8: 3,975,948 (GRCm39)	I71N	probably benign	Het
Cdk12	A	T	11: 98,111,928 (GRCm39)	I729F	unknown	Het
Celf1	T	G	2: 90,831,423 (GRCm39)	V84G	probably damaging	Het
Cgn	G	T	3: 94,671,836 (GRCm39)	A965E	probably benign	Het
Cgnl1	T	C	9: 71,632,604 (GRCm39)	E249G	probably benign	Het
Cspg4b	A	G	13: 113,455,841 (GRCm39)	H629R		Het
Cyp2j8	T	C	4: 96,358,776 (GRCm39)	N381S	possibly damaging	Het
Dmtf1	T	C	5: 9,179,169 (GRCm39)	D343G	probably damaging	Het
Fhl5	T	A	4: 25,214,730 (GRCm39)	I16F	probably benign	Het
Gatd1	A	G	7: 140,989,781 (GRCm39)	F143S	probably damaging	Het
Gbp10	C	T	5: 105,368,967 (GRCm39)	G291R	probably benign	Het
Gm28168	T	C	1: 117,875,820 (GRCm39)	Y150H	probably benign	Het
Gramd2b	A	G	18: 56,618,451 (GRCm39)	T220A	probably benign	Het
Gstcd	A	G	3: 132,777,863 (GRCm39)	L316P	probably damaging	Het
Hspg2	G	A	4: 137,282,532 (GRCm39)	G3424D	probably benign	Het
Ifi209	C	T	1: 173,468,722 (GRCm39)	S184F	probably benign	Het
Ino80	A	T	2: 119,286,948 (GRCm39)		probably null	Het
Kcnd3	G	A	3: 105,366,310 (GRCm39)	R60H	probably damaging	Het
Kif21b	T	C	1: 136,098,911 (GRCm39)	C1400R	probably damaging	Het
Lama3	C	T	18: 12,670,796 (GRCm39)	P794L	probably damaging	Het
Lgals4	A	G	7: 28,540,346 (GRCm39)	I214V	probably benign	Het
Lipo4	A	T	19: 33,490,028 (GRCm39)	L158Q	probably damaging	Het
Ltv1	A	G	10: 13,066,453 (GRCm39)	Y58H	probably damaging	Het
Mitf	T	C	6: 97,994,990 (GRCm39)	S479P	probably benign	Het
Mthfr	A	T	4: 148,127,920 (GRCm39)	D132V	probably damaging	Het
Mtrr	T	C	13: 68,727,666 (GRCm39)		probably null	Het
Neb	T	A	2: 52,050,678 (GRCm39)	H6660L	probably benign	Het
Nhlrc3	A	T	3: 53,360,966 (GRCm39)	V263E	probably damaging	Het
Oas1h	G	A	5: 121,009,890 (GRCm39)	V322M	probably damaging	Het
Or10a3n	A	T	7: 108,493,019 (GRCm39)	Y203*	probably null	Het
Or2m13	T	A	16: 19,226,301 (GRCm39)	D155V	probably damaging	Het
Or4a15	C	T	2: 89,193,413 (GRCm39)	R120H	probably benign	Het
Pappa	A	T	4: 65,212,705 (GRCm39)	D1121V	probably damaging	Het
Pax5	A	G	4: 44,537,465 (GRCm39)	S352P	probably damaging	Het
Piezo1	C	A	8: 123,222,504 (GRCm39)	R915L		Het
R3hcc1	T	C	14: 69,944,593 (GRCm39)	D7G	probably damaging	Het
Rasgrp2	A	G	19: 6,458,589 (GRCm39)	K429E	probably damaging	Het
Scn10a	A	G	9: 119,501,286 (GRCm39)	F166S	probably benign	Het
Scn9a	T	G	2: 66,314,597 (GRCm39)	N1707T	probably damaging	Het
Sec23ip	T	C	7: 128,364,201 (GRCm39)	F493S	probably damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slfn4	A	T	11: 83,077,982 (GRCm39)	I257F	possibly damaging	Het
Smarcal1	T	A	1: 72,652,150 (GRCm39)	D637E	probably benign	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Sos2	A	T	12: 69,639,814 (GRCm39)	F990L	probably benign	Het
Spata31h1	C	T	10: 82,119,823 (GRCm39)	A4396T	possibly damaging	Het
Syne1	T	C	10: 4,981,786 (GRCm39)	T844A	probably benign	Het
Tph1	G	A	7: 46,306,678 (GRCm39)	R145C	probably damaging	Het
Ubap2l	G	A	3: 89,946,076 (GRCm39)		probably null	Het
Vmn2r50	T	C	7: 9,771,272 (GRCm39)	I810V	probably benign	Het
Vmn2r59	T	C	7: 41,693,199 (GRCm39)	D467G	probably damaging	Het
Zfp618	T	A	4: 63,049,352 (GRCm39)	N417K	possibly damaging	Het

Other mutations in Gm3543

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02553:Gm3543	APN	14	41,802,048 (GRCm39)	missense	probably benign	0.08
IGL03067:Gm3543	APN	14	41,802,830 (GRCm39)	splice site	probably benign
IGL03162:Gm3543	APN	14	41,802,022 (GRCm39)	missense	possibly damaging	0.84
R7044:Gm3543	UTSW	14	41,802,023 (GRCm39)	missense	probably damaging	0.99
R9274:Gm3543	UTSW	14	41,802,125 (GRCm39)	missense	probably damaging	0.99
R9365:Gm3543	UTSW	14	41,804,093 (GRCm39)	missense	possibly damaging	0.77
Z1176:Gm3543	UTSW	14	41,802,964 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTGCATAAGTTTCAGGATG -3'
(R):5'- TGTGATGCTCCATGGCCAATC -3'

Sequencing Primer
(F):5'- GTTTATGCTTAGACATTAGGGCAGCC -3'
(R):5'- CATGGCCAATCTGGATACTTATCTGG -3'

Posted On

2020-09-15