Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02006:Gm17541'

183200

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm17541

Ensembl Gene

ENSMUSG00000091732

Gene Name

predicted gene, 17541

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02006

Quality Score

Status

Chromosome

Chromosomal Location

4739405-4739917 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 4739619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000219007] [ENSMUST00000220311]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062580

SMART Domains

Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640

Domain	Start	End	E-Value	Type
EH	15	109	8.44e-41	SMART
EFh	58	86	7.18e-3	SMART
low complexity region	156	169	N/A	INTRINSIC
low complexity region	215	231	N/A	INTRINSIC
EH	238	333	4.06e-43	SMART
EFh	282	310	6.16e-2	SMART
coiled coil region	366	462	N/A	INTRINSIC
coiled coil region	516	556	N/A	INTRINSIC
coiled coil region	580	715	N/A	INTRINSIC
SH3	721	778	2.65e-21	SMART
low complexity region	791	811	N/A	INTRINSIC
SH3	855	909	8.83e-18	SMART
SH3	945	999	9.1e-20	SMART
SH3	1017	1077	1.55e-13	SMART
SH3	1091	1146	7.22e-23	SMART
RhoGEF	1174	1355	1.93e-56	SMART
PH	1396	1507	1.16e-9	SMART
C2	1531	1628	3.96e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000080062

SMART Domains

Protein: ENSMUSP00000129198
Gene: ENSMUSG00000091732

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18ae	4	127	2.1e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219832

Predicted Effect

probably benign
Transcript: ENSMUST00000220311

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,117,582 (GRCm39)	G182S	probably damaging	Het
Akr1b7	A	T	6: 34,392,385 (GRCm39)	N66I	probably benign	Het
Arrdc3	T	A	13: 81,031,893 (GRCm39)	I42N	probably damaging	Het
Atp6v0d2	G	T	4: 19,878,325 (GRCm39)	A316E	probably damaging	Het
Atp8a2	A	G	14: 60,094,497 (GRCm39)	V847A	possibly damaging	Het
Ccdc171	A	G	4: 83,713,479 (GRCm39)	N1173D	possibly damaging	Het
Crb2	A	C	2: 37,676,475 (GRCm39)	D152A	probably damaging	Het
Ecm1	T	C	3: 95,641,557 (GRCm39)	E559G	probably damaging	Het
Ephb1	A	G	9: 102,071,971 (GRCm39)		probably null	Het
Fndc11	C	A	2: 180,863,884 (GRCm39)	R230S	probably damaging	Het
Frem1	A	G	4: 82,911,037 (GRCm39)		probably null	Het
Fyco1	G	A	9: 123,658,896 (GRCm39)	Q427*	probably null	Het
Gm5431	C	T	11: 48,779,330 (GRCm39)	V809M	probably damaging	Het
Gm7293	A	G	9: 51,534,043 (GRCm39)		noncoding transcript	Het
Ift52	T	C	2: 162,865,289 (GRCm39)	S47P	probably benign	Het
Iqcf6	A	G	9: 106,504,510 (GRCm39)	D58G	probably benign	Het
Itm2b	T	C	14: 73,600,488 (GRCm39)		probably benign	Het
Jakmip1	T	C	5: 37,278,331 (GRCm39)	I536T	probably damaging	Het
Kcnh1	T	G	1: 191,873,323 (GRCm39)	M3R	possibly damaging	Het
Kcnh5	G	T	12: 74,944,322 (GRCm39)	P976T	probably damaging	Het
Layn	G	A	9: 50,968,591 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,347,317 (GRCm39)	Q3126L	probably damaging	Het
Meioc	A	T	11: 102,565,092 (GRCm39)	D180V	probably damaging	Het
Myo15a	T	A	11: 60,401,954 (GRCm39)	C3066S	probably damaging	Het
Nbeal1	T	C	1: 60,311,418 (GRCm39)		probably null	Het
Negr1	T	C	3: 156,721,810 (GRCm39)		probably benign	Het
Nek1	T	A	8: 61,557,226 (GRCm39)	N940K	probably benign	Het
Nfkbib	A	T	7: 28,465,667 (GRCm39)		probably null	Het
Nol4	T	A	18: 23,054,975 (GRCm39)	T152S	probably damaging	Het
Oas3	G	T	5: 120,907,300 (GRCm39)	R446S	probably benign	Het
Oosp3	C	T	19: 11,676,784 (GRCm39)	L48F	probably damaging	Het
Or2r3	A	G	6: 42,449,025 (GRCm39)	V29A	probably benign	Het
Or2w25	T	C	11: 59,503,985 (GRCm39)	L65P	probably damaging	Het
Pik3ap1	C	A	19: 41,291,032 (GRCm39)	W500L	probably benign	Het
Ppih	A	G	4: 119,168,779 (GRCm39)		probably benign	Het
Ro60	G	T	1: 143,636,084 (GRCm39)		probably benign	Het
Slc7a15	T	C	12: 8,585,508 (GRCm39)		probably null	Het
Srl	T	C	16: 4,315,150 (GRCm39)	E164G	probably benign	Het
Tbx10	C	A	19: 4,048,186 (GRCm39)	T237K	probably damaging	Het
Vwa5b2	T	C	16: 20,415,843 (GRCm39)	V392A	probably damaging	Het
Wfdc5	A	T	2: 164,024,483 (GRCm39)		probably benign	Het
Xirp2	T	C	2: 67,342,306 (GRCm39)	F1516L	possibly damaging	Het
Znfx1	A	G	2: 166,897,683 (GRCm39)	C414R	probably damaging	Het

Other mutations in Gm17541

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01593:Gm17541	APN	12	4,739,868 (GRCm39)	intron	probably benign
IGL02525:Gm17541	APN	12	4,739,907 (GRCm39)	intron	probably benign
R0266:Gm17541	UTSW	12	4,739,487 (GRCm39)	intron	probably benign
R0501:Gm17541	UTSW	12	4,739,730 (GRCm39)	intron	probably benign
R1375:Gm17541	UTSW	12	4,739,825 (GRCm39)	intron	probably benign
R4283:Gm17541	UTSW	12	4,739,656 (GRCm39)	intron	probably benign
R5256:Gm17541	UTSW	12	4,739,672 (GRCm39)	intron	probably benign
R5512:Gm17541	UTSW	12	4,739,452 (GRCm39)	intron	probably benign

Posted On

2014-05-07