Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00489:Gm21985'

7090

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm21985

Ensembl Gene

ENSMUSG00000096764

Gene Name

predicted gene 21985

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00489

Quality Score

Status

Chromosome

Chromosomal Location

112096659-112236664 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 112168342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028549] [ENSMUST00000053666] [ENSMUST00000110987] [ENSMUST00000110991] [ENSMUST00000141047]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028549

SMART Domains

Protein: ENSMUSP00000028549
Gene: ENSMUSG00000027130

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	114	171	8e-3	SMART
Pfam:AA_permease	190	384	4.1e-25	PFAM
Pfam:AA_permease	453	761	2.3e-43	PFAM
Pfam:SLC12	773	897	7.1e-20	PFAM
Pfam:SLC12	892	1150	3.9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053666

SMART Domains

Protein: ENSMUSP00000051490
Gene: ENSMUSG00000027130

Domain	Start	End	E-Value	Type
Pfam:AA_permease	139	333	2.3e-25	PFAM
Pfam:AA_permease_2	385	668	1.5e-19	PFAM
Pfam:AA_permease	391	710	4.5e-41	PFAM
low complexity region	828	842	N/A	INTRINSIC
Pfam:KCl_Cotrans_1	967	996	2.2e-23	PFAM
low complexity region	1079	1091	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110987

SMART Domains

Protein: ENSMUSP00000106615
Gene: ENSMUSG00000027130

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	99	156	4e-3	SMART
Pfam:AA_permease	175	369	3.9e-25	PFAM
Pfam:AA_permease_2	421	704	3.2e-19	PFAM
Pfam:AA_permease	426	746	5.8e-41	PFAM
low complexity region	864	878	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110991

SMART Domains

Protein: ENSMUSP00000106619
Gene: ENSMUSG00000027130

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	114	171	7e-3	SMART
Pfam:AA_permease	190	384	4.2e-25	PFAM
Pfam:AA_permease_2	436	719	2.9e-19	PFAM
Pfam:AA_permease	442	761	8.2e-41	PFAM
low complexity region	879	893	N/A	INTRINSIC
Pfam:KCl_Cotrans_1	1018	1047	2.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141047

SMART Domains

Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	99	156	8e-3	SMART
Pfam:AA_permease	175	369	6.6e-25	PFAM
Pfam:AA_permease	438	746	3.6e-43	PFAM
Pfam:SLC12	758	884	6.8e-20	PFAM
Pfam:SLC12	877	1033	5.9e-20	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	T	C	10: 14,316,147 (GRCm39)		probably null	Het
Alcam	T	A	16: 52,115,380 (GRCm39)		probably benign	Het
Aspm	C	A	1: 139,406,429 (GRCm39)	A1772E	probably damaging	Het
Bag6	T	A	17: 35,363,627 (GRCm39)	D770E	probably damaging	Het
Baz2b	A	T	2: 59,788,019 (GRCm39)	Y724*	probably null	Het
Ccdc178	A	T	18: 21,977,968 (GRCm39)	I833N	probably benign	Het
Ccdc28a	C	A	10: 18,106,261 (GRCm39)	V22F	possibly damaging	Het
Cmya5	T	C	13: 93,229,628 (GRCm39)	N1820S	probably benign	Het
Fancm	T	G	12: 65,152,967 (GRCm39)	I1141S	probably benign	Het
Fgfrl1	G	A	5: 108,853,753 (GRCm39)	G287S	probably damaging	Het
Galntl6	G	A	8: 58,310,574 (GRCm39)	P376S	probably damaging	Het
Hck	A	G	2: 152,992,939 (GRCm39)	E482G	possibly damaging	Het
Kcna3	C	T	3: 106,944,472 (GRCm39)	S245L	probably benign	Het
Mcc	T	C	18: 44,582,283 (GRCm39)	M798V	possibly damaging	Het
Nlrp9c	T	C	7: 26,084,013 (GRCm39)	Y522C	probably benign	Het
Ofcc1	C	A	13: 40,433,967 (GRCm39)	S46I	probably damaging	Het
Pdgfra	A	G	5: 75,324,340 (GRCm39)	D65G	probably benign	Het
Phf24	A	C	4: 42,933,905 (GRCm39)	T59P	possibly damaging	Het
Pik3cg	A	G	12: 32,255,148 (GRCm39)	Y280H	probably damaging	Het
Pkd1l1	C	A	11: 8,784,773 (GRCm39)		probably null	Het
Plcd4	C	A	1: 74,591,274 (GRCm39)	T223N	probably damaging	Het
Polr1b	G	A	2: 128,967,829 (GRCm39)	G1074D	probably damaging	Het
Pou2f3	T	C	9: 43,040,188 (GRCm39)	T367A	probably damaging	Het
Prkdc	T	A	16: 15,617,790 (GRCm39)	M3207K	possibly damaging	Het
Rb1cc1	T	C	1: 6,319,730 (GRCm39)	S1050P	probably damaging	Het
Sf3b3	G	A	8: 111,540,383 (GRCm39)	R1013*	probably null	Het
Svep1	T	C	4: 58,068,988 (GRCm39)	T2933A	possibly damaging	Het
Vwf	A	G	6: 125,635,835 (GRCm39)	R289G	unknown	Het
Zfp263	T	C	16: 3,563,710 (GRCm39)	S155P	probably benign	Het

Other mutations in Gm21985

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Gm21985	APN	2	112,181,679 (GRCm39)	missense	probably damaging	1.00
IGL01449:Gm21985	APN	2	112,169,741 (GRCm39)	missense	probably damaging	1.00
IGL02065:Gm21985	APN	2	112,187,929 (GRCm39)	missense	possibly damaging	0.89
IGL02937:Gm21985	APN	2	112,172,207 (GRCm39)	missense	probably benign	0.20
IGL03179:Gm21985	APN	2	112,188,900 (GRCm39)	missense	possibly damaging	0.95
IGL03216:Gm21985	APN	2	112,097,281 (GRCm39)	missense	probably damaging	0.97
IGL03220:Gm21985	APN	2	112,187,829 (GRCm39)	missense	possibly damaging	0.89

Posted On

2012-04-20