Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03220:Gm21985'

413606

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 #

IGL03220

Quality Score

Status

Chromosome

Chromosomal Location

112096659-112236664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112187829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 964 (H964N)

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
AA Change: H979N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000028549
Gene: ENSMUSG00000027130
AA Change: H979N

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
AA Change: H928N

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000051490
Gene: ENSMUSG00000027130
AA Change: H928N

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: H979N

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106619
Gene: ENSMUSG00000027130
AA Change: H979N

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: H964N

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764
AA Change: H964N

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	A	1: 179,615,767 (GRCm39)	E368D	probably benign	Het
Arid2	A	T	15: 96,259,653 (GRCm39)	H271L	probably damaging	Het
Bsnd	G	T	4: 106,343,962 (GRCm39)	Q115K	possibly damaging	Het
Ceacam5	T	A	7: 17,494,653 (GRCm39)	I887N	probably damaging	Het
Clrn2	T	C	5: 45,621,070 (GRCm39)	F155L	probably damaging	Het
Col12a1	A	G	9: 79,606,765 (GRCm39)	S553P	probably damaging	Het
Crnn	C	T	3: 93,056,674 (GRCm39)	H487Y	possibly damaging	Het
Ddi2	T	C	4: 141,435,767 (GRCm39)	N90S	probably benign	Het
Deup1	T	A	9: 15,503,707 (GRCm39)	I285L	probably benign	Het
Dlgap4	T	C	2: 156,546,546 (GRCm39)	S405P	probably damaging	Het
Dnah11	A	G	12: 118,069,720 (GRCm39)	F1560L	probably benign	Het
Dock1	T	C	7: 134,710,251 (GRCm39)		probably null	Het
Dst	C	A	1: 34,225,076 (GRCm39)	Q1161K	probably damaging	Het
Dus1l	G	T	11: 120,683,185 (GRCm39)	H280N	probably damaging	Het
Gzmd	A	T	14: 56,367,886 (GRCm39)	V129E	probably damaging	Het
Hmcn2	T	A	2: 31,236,633 (GRCm39)	F392Y	possibly damaging	Het
Kdelr2	T	A	5: 143,403,870 (GRCm39)	Y86*	probably null	Het
Kif26b	T	G	1: 178,692,434 (GRCm39)	C458W	probably damaging	Het
Lhpp	G	A	7: 132,252,020 (GRCm39)	V220I	probably benign	Het
Nfya	T	C	17: 48,707,521 (GRCm39)	N7S	possibly damaging	Het
Or5ar1	G	T	2: 85,671,326 (GRCm39)	Q270K	possibly damaging	Het
Or5b12b	C	T	19: 12,861,815 (GRCm39)	T190I	possibly damaging	Het
Or5b24	A	C	19: 12,912,858 (GRCm39)	Y252S	probably damaging	Het
Prkg1	A	T	19: 30,546,637 (GRCm39)		probably benign	Het
Prpf6	A	G	2: 181,274,672 (GRCm39)	E383G	probably damaging	Het
Ptpn21	A	T	12: 98,644,882 (GRCm39)	V1153E	probably damaging	Het
Ryr1	A	T	7: 28,759,280 (GRCm39)	I3330N	probably damaging	Het
Sgk1	A	G	10: 21,873,290 (GRCm39)	D252G	probably null	Het
Shcbp1l	T	C	1: 153,308,911 (GRCm39)		probably benign	Het
Shoc1	G	A	4: 59,082,378 (GRCm39)	Q417*	probably null	Het
Skida1	T	C	2: 18,052,972 (GRCm39)	D60G	probably damaging	Het
Slc9a5	T	A	8: 106,094,652 (GRCm39)	C748S	probably benign	Het
Smc4	A	T	3: 68,916,875 (GRCm39)	Y163F	possibly damaging	Het
Spdya	T	C	17: 71,885,286 (GRCm39)	S247P	possibly damaging	Het
Sptb	T	C	12: 76,659,684 (GRCm39)	D1072G	probably benign	Het
St7l	A	T	3: 104,782,139 (GRCm39)		probably benign	Het
Trmt1l	T	C	1: 151,316,692 (GRCm39)		probably benign	Het
Tspan4	A	G	7: 141,071,712 (GRCm39)	Y153C	probably damaging	Het
Ulk4	A	T	9: 120,974,402 (GRCm39)	N944K	probably damaging	Het
Unc80	T	C	1: 66,544,097 (GRCm39)	C407R	probably damaging	Het
Zfp563	T	G	17: 33,323,661 (GRCm39)	S85R	probably benign	Het
Zp2	A	C	7: 119,736,450 (GRCm39)	L331R	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
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

Posted On

2016-08-02