Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03067:Gm3543'

409752

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm3543

Ensembl Gene

ENSMUSG00000093945

Gene Name

predicted gene 3543

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03067

Quality Score

Status

Chromosome

Chromosomal Location

41799830-41805282 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 41802830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136563 (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

SMART Domains

Protein: ENSMUSP00000107501
Gene: ENSMUSG00000093945

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

SMART Domains

Protein: ENSMUSP00000136563
Gene: ENSMUSG00000093945

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,900,909 (GRCm39)	D1162E	probably benign	Het
Abhd2	T	C	7: 79,009,782 (GRCm39)	F386L	probably benign	Het
Adamts6	C	T	13: 104,433,783 (GRCm39)	R71W	probably damaging	Het
Adgrv1	T	C	13: 81,590,599 (GRCm39)	Y4403C	probably damaging	Het
Aldoart1	A	T	4: 72,770,194 (GRCm39)	C205S	possibly damaging	Het
Ap2a1	C	A	7: 44,552,935 (GRCm39)	A711S	probably benign	Het
Arhgef28	A	G	13: 98,124,794 (GRCm39)	I496T	probably benign	Het
Cyp27a1	A	G	1: 74,771,068 (GRCm39)		probably null	Het
Cyp2c69	C	T	19: 39,869,537 (GRCm39)	G161S	probably benign	Het
Dpy19l1	A	G	9: 24,349,956 (GRCm39)	V428A	probably benign	Het
Foxk2	C	T	11: 121,176,394 (GRCm39)	T180M	possibly damaging	Het
Gm3402	C	A	5: 146,451,399 (GRCm39)	H86N	possibly damaging	Het
Gnai3	T	C	3: 108,025,609 (GRCm39)		probably benign	Het
Hmcn2	C	T	2: 31,236,642 (GRCm39)	P395L	probably damaging	Het
Igsf10	T	C	3: 59,226,339 (GRCm39)	I2445V	probably benign	Het
Il10ra	T	C	9: 45,167,157 (GRCm39)	T465A	probably benign	Het
Itpr2	G	A	6: 146,226,680 (GRCm39)	L1322F	probably damaging	Het
Man1b1	T	C	2: 25,239,344 (GRCm39)	Y536H	probably benign	Het
P3h1	A	G	4: 119,092,477 (GRCm39)	H170R	probably damaging	Het
Pakap	A	T	4: 57,648,038 (GRCm39)	T59S	probably benign	Het
Parp14	A	G	16: 35,676,878 (GRCm39)	V1030A	probably benign	Het
Pdzd2	A	G	15: 12,388,628 (GRCm39)		probably null	Het
Pilra	T	C	5: 137,821,843 (GRCm39)	Y264C	probably damaging	Het
Ptprf	A	G	4: 118,067,910 (GRCm39)	V1799A	possibly damaging	Het
Rap1gap2	A	G	11: 74,284,238 (GRCm39)	S649P	possibly damaging	Het
Rasgrf2	T	C	13: 92,159,413 (GRCm39)	M426V	probably damaging	Het
Rpl9	A	G	5: 65,548,191 (GRCm39)	I18T	possibly damaging	Het
Slc6a19	C	A	13: 73,837,849 (GRCm39)	E217*	probably null	Het
Smtn	C	A	11: 3,480,165 (GRCm39)	R352L	possibly damaging	Het
Supv3l1	C	A	10: 62,265,600 (GRCm39)	D647Y	probably damaging	Het
Sv2a	A	G	3: 96,092,498 (GRCm39)	Y66C	probably damaging	Het
Upk1b	A	G	16: 38,605,272 (GRCm39)	I107T	probably damaging	Het
Yif1a	T	C	19: 5,139,813 (GRCm39)	V86A	possibly damaging	Het
Zfp820	T	C	17: 22,038,801 (GRCm39)	T176A	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
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
R7975:Gm3543	UTSW	14	41,802,122 (GRCm39)	missense	probably benign	0.00
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

Posted On

2016-08-02