Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00092:Gm21985'

1860

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 #

IGL00092

Quality Score

Status

Chromosome

Chromosomal Location

112096659-112236664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 112181679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 685 (W685G)

Ref Sequence

ENSEMBL: ENSMUSP00000106615 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000028549
AA Change: W700G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028549
Gene: ENSMUSG00000027130
AA Change: W700G

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 damaging
Transcript: ENSMUST00000053666
AA Change: W649G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051490
Gene: ENSMUSG00000027130
AA Change: W649G

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 damaging
Transcript: ENSMUST00000110987
AA Change: W685G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106615
Gene: ENSMUSG00000027130
AA Change: W685G

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 damaging
Transcript: ENSMUST00000110991
AA Change: W700G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106619
Gene: ENSMUSG00000027130
AA Change: W700G

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

noncoding transcript
Transcript: ENSMUST00000132752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137896

Predicted Effect

probably damaging
Transcript: ENSMUST00000141047
AA Change: W685G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764
AA Change: W685G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156470

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
Abcb5	T	C	12: 118,892,430 (GRCm39)	D443G	probably benign	Het
Atg16l1	T	C	1: 87,693,119 (GRCm39)	I28T	possibly damaging	Het
Bpi	T	A	2: 158,116,716 (GRCm39)	V371E	probably damaging	Het
Cd109	T	G	9: 78,524,251 (GRCm39)	V55G	probably damaging	Het
Cd300c2	T	C	11: 114,892,375 (GRCm39)		probably benign	Het
Cic	C	T	7: 24,991,549 (GRCm39)	R1280C	probably damaging	Het
Cngb1	G	A	8: 95,968,812 (GRCm39)		probably benign	Het
Cntn4	G	T	6: 106,483,186 (GRCm39)	C247F	probably damaging	Het
Disp3	C	T	4: 148,325,991 (GRCm39)	V1256I	probably benign	Het
Farsb	A	T	1: 78,439,630 (GRCm39)	S338T	probably benign	Het
Fcnb	T	C	2: 27,966,813 (GRCm39)	N240S	probably benign	Het
Flg2	A	G	3: 93,127,162 (GRCm39)	S5G	possibly damaging	Het
Git1	T	C	11: 77,396,783 (GRCm39)	L635P	probably benign	Het
Gpt2	T	C	8: 86,238,953 (GRCm39)	V262A	probably benign	Het
Hecw2	A	G	1: 53,869,896 (GRCm39)	V1444A	probably damaging	Het
Herc1	T	C	9: 66,391,248 (GRCm39)	V4017A	probably benign	Het
Klhl17	T	C	4: 156,318,147 (GRCm39)	T129A	possibly damaging	Het
Krt84	T	G	15: 101,437,170 (GRCm39)	D331A	probably damaging	Het
Lrrc9	C	T	12: 72,533,017 (GRCm39)	T963M	possibly damaging	Het
Mtcl1	C	T	17: 66,651,314 (GRCm39)	V935I	probably benign	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Myocd	T	C	11: 65,071,770 (GRCm39)		probably null	Het
Nid1	A	G	13: 13,650,977 (GRCm39)	N505D	probably damaging	Het
Ninj1	A	T	13: 49,347,210 (GRCm39)		probably null	Het
Or14a260	C	T	7: 85,985,269 (GRCm39)	V112I	probably benign	Het
Or1x6	C	A	11: 50,939,227 (GRCm39)	Q98K	probably benign	Het
Or4d10c	A	T	19: 12,065,357 (GRCm39)	D266E	probably benign	Het
Plscr2	T	A	9: 92,172,685 (GRCm39)		probably benign	Het
Ppfia2	A	G	10: 106,655,353 (GRCm39)	T307A	probably benign	Het
Sart3	T	C	5: 113,884,730 (GRCm39)	R625G	probably benign	Het
Sohlh2	T	A	3: 55,115,236 (GRCm39)	L407H	probably damaging	Het
Sorcs1	A	G	19: 50,178,492 (GRCm39)	S877P	probably damaging	Het
Stat1	T	C	1: 52,161,754 (GRCm39)	M1T	probably null	Het
Szt2	C	T	4: 118,241,447 (GRCm39)		probably benign	Het
Tars3	G	T	7: 65,302,007 (GRCm39)		probably null	Het
Terb2	T	A	2: 122,028,867 (GRCm39)	S141R	probably benign	Het
Tgfbrap1	T	C	1: 43,099,283 (GRCm39)	Y177C	probably damaging	Het
Trappc9	A	T	15: 72,897,875 (GRCm39)	I169N	possibly damaging	Het
Trim47	A	G	11: 115,997,020 (GRCm39)	L578P	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	probably damaging	Het
Vmn2r90	T	C	17: 17,953,758 (GRCm39)	S641P	probably benign	Het
Vwa5a	T	A	9: 38,649,110 (GRCm39)		probably null	Het
Zzef1	T	A	11: 72,765,952 (GRCm39)	I1493N	probably benign	Het

Other mutations in Gm21985

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Gm21985	APN	2	112,168,342 (GRCm39)	splice site	probably benign
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

2011-07-12