Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03179:Gm21985'

412127

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 #

IGL03179

Quality Score

Status

Chromosome

Chromosomal Location

112096659-112236664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112188900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1078 (V1078I)

Ref Sequence

ENSEMBL: ENSMUSP00000124314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028549] [ENSMUST00000028551] [ENSMUST00000053666] [ENSMUST00000110987] [ENSMUST00000110991] [ENSMUST00000141047]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028549
AA Change: V1093I

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028549
Gene: ENSMUSG00000027130
AA Change: V1093I

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: ENSMUST00000028551

SMART Domains

Protein: ENSMUSP00000028551
Gene: ENSMUSG00000027131

Domain	Start	End	E-Value	Type
low complexity region	22	41	N/A	INTRINSIC
Pfam:DUF1077	56	170	2.6e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053666
AA Change: V1042I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000051490
Gene: ENSMUSG00000027130
AA Change: V1042I

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

possibly damaging
Transcript: ENSMUST00000110991
AA Change: V1093I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106619
Gene: ENSMUSG00000027130
AA Change: V1093I

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: ENSMUST00000137896

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141047
AA Change: V1078I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764
AA Change: V1078I

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	A	14: 78,745,180 (GRCm39)	H1736L	probably benign	Het
App	A	G	16: 84,879,735 (GRCm39)	C133R	probably damaging	Het
Atxn7l2	G	T	3: 108,110,963 (GRCm39)	C524*	probably null	Het
Cckbr	T	C	7: 105,084,130 (GRCm39)	V288A	probably benign	Het
Ccr1l1	T	C	9: 123,777,787 (GRCm39)	Y220C	probably damaging	Het
Cdc42se2	A	T	11: 54,614,417 (GRCm39)	F47I	possibly damaging	Het
Cep290	T	A	10: 100,403,950 (GRCm39)	I2317N	possibly damaging	Het
Chrnd	T	C	1: 87,123,502 (GRCm39)	S347P	probably damaging	Het
Clcn5	T	A	X: 7,029,565 (GRCm39)		probably null	Het
D6Wsu163e	A	G	6: 126,927,074 (GRCm39)	D187G	probably damaging	Het
Dnajc13	T	A	9: 104,044,634 (GRCm39)	I1852F	probably benign	Het
Ecpas	C	T	4: 58,832,777 (GRCm39)	G861D	probably damaging	Het
Fcnb	A	G	2: 27,966,646 (GRCm39)	S296P	possibly damaging	Het
Fut2	C	T	7: 45,300,073 (GRCm39)	R233K	probably benign	Het
Gpc3	A	T	X: 51,486,090 (GRCm39)		probably benign	Het
Krt10	A	G	11: 99,280,044 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,781 (GRCm39)	E370G	probably damaging	Het
Myo5c	A	T	9: 75,163,148 (GRCm39)	I326F	possibly damaging	Het
Neb	A	T	2: 52,066,653 (GRCm39)	L5906Q	probably damaging	Het
Nrdc	A	T	4: 108,903,888 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,381,938 (GRCm39)	N17S	possibly damaging	Het
Or51f2	T	C	7: 102,527,279 (GRCm39)		probably benign	Het
Or6s1	T	C	14: 51,308,467 (GRCm39)	I128V	probably benign	Het
P2rx7	A	G	5: 122,811,763 (GRCm39)	Y358C	possibly damaging	Het
Pex10	A	C	4: 155,152,354 (GRCm39)	I61L	probably benign	Het
Phax	T	C	18: 56,713,364 (GRCm39)	F248L	probably damaging	Het
Phtf2	A	T	5: 20,987,397 (GRCm39)	D366E	probably damaging	Het
Pnpo	A	G	11: 96,830,085 (GRCm39)	Y205H	possibly damaging	Het
Pparg	T	A	6: 115,416,833 (GRCm39)	W9R	probably damaging	Het
Ppp4r3c2	G	A	X: 88,796,434 (GRCm39)	G89S	possibly damaging	Het
Prex1	C	T	2: 166,427,114 (GRCm39)	S867N	probably benign	Het
Pyroxd2	T	A	19: 42,736,001 (GRCm39)	N59I	possibly damaging	Het
Rnf135	T	A	11: 80,084,837 (GRCm39)	S203R	possibly damaging	Het
Sall1	T	A	8: 89,758,289 (GRCm39)	N605I	probably benign	Het
Scara3	C	T	14: 66,168,603 (GRCm39)	R338H	probably damaging	Het
Slc25a14	T	C	X: 47,726,317 (GRCm39)	S152P	probably benign	Het
Strip1	A	T	3: 107,527,571 (GRCm39)	F436I	probably damaging	Het
Tgfa	T	C	6: 86,248,403 (GRCm39)	L135P	probably benign	Het
Tgif1	T	C	17: 71,151,942 (GRCm39)	Q170R	possibly damaging	Het
Tmc2	G	A	2: 130,071,107 (GRCm39)	E279K	probably damaging	Het
Tnks	G	T	8: 35,315,824 (GRCm39)	N987K	probably benign	Het
Traf3ip3	T	C	1: 192,876,676 (GRCm39)	E209G	probably damaging	Het
Vmn2r73	T	A	7: 85,519,468 (GRCm39)	I497L	probably benign	Het
Wrn	C	A	8: 33,800,734 (GRCm39)		probably null	Het
Zcchc24	T	C	14: 25,720,086 (GRCm39)	I193V	possibly damaging	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
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
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

2016-08-02