Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02065:Gm21985'

185603

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 #

IGL02065

Quality Score

Status

Chromosome

Chromosomal Location

112096659-112236664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112187929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1012 (D1012G)

Ref Sequence

ENSEMBL: ENSMUSP00000106619 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028549
AA Change: D1012G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028549
Gene: ENSMUSG00000027130
AA Change: D1012G

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

possibly damaging
Transcript: ENSMUST00000053666
AA Change: D961G

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051490
Gene: ENSMUSG00000027130
AA Change: D961G

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: D1012G

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

SMART Domains

Protein: ENSMUSP00000106619
Gene: ENSMUSG00000027130
AA Change: D1012G

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: D997G

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764
AA Change: D997G

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,827 (GRCm39)	E770K	possibly damaging	Het
Abhd17a	C	A	10: 80,422,395 (GRCm39)	A22S	probably benign	Het
Actbl2	A	G	13: 111,392,225 (GRCm39)	T187A	probably benign	Het
Adgrl3	G	A	5: 81,660,064 (GRCm39)	G278R	probably damaging	Het
Apoh	C	A	11: 108,305,131 (GRCm39)		probably benign	Het
Atp2b2	A	G	6: 113,790,828 (GRCm39)	F192S	probably damaging	Het
Bdh1	T	C	16: 31,268,754 (GRCm39)	I163T	possibly damaging	Het
Bmp1	G	T	14: 70,723,660 (GRCm39)	N725K	probably damaging	Het
Bmp1	T	A	14: 70,727,547 (GRCm39)	I679F	probably damaging	Het
Bmp2	T	A	2: 133,402,844 (GRCm39)	F132I	probably benign	Het
Bpifb5	T	C	2: 154,069,103 (GRCm39)	L140P	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil3	T	C	14: 55,731,279 (GRCm39)		probably benign	Het
Ccdc57	T	C	11: 120,764,586 (GRCm39)	T730A	possibly damaging	Het
Cdh10	G	T	15: 19,013,342 (GRCm39)	K647N	probably damaging	Het
Cdh17	A	C	4: 11,771,373 (GRCm39)		probably benign	Het
Cep126	A	G	9: 8,099,925 (GRCm39)	S870P	probably benign	Het
Col6a4	T	C	9: 105,954,302 (GRCm39)	T346A	probably damaging	Het
Csmd3	A	C	15: 47,530,024 (GRCm39)	V2592G	probably damaging	Het
Dnajc16	A	T	4: 141,504,244 (GRCm39)	F239I	probably damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
F5	G	A	1: 164,017,695 (GRCm39)	V591M	probably damaging	Het
Fchsd2	T	G	7: 100,826,429 (GRCm39)		probably null	Het
Flad1	A	T	3: 89,316,294 (GRCm39)	D89E	probably damaging	Het
Fsd1	C	A	17: 56,303,499 (GRCm39)	P457Q	probably damaging	Het
Gon4l	A	G	3: 88,764,517 (GRCm39)	D366G	probably null	Het
Hadha	A	G	5: 30,347,843 (GRCm39)		probably benign	Het
Kdr	A	G	5: 76,122,513 (GRCm39)		probably benign	Het
Kyat3	A	G	3: 142,426,136 (GRCm39)	K24R	probably benign	Het
Map3k21	A	G	8: 126,668,397 (GRCm39)	D661G	probably benign	Het
Mical1	A	T	10: 41,360,407 (GRCm39)	K615N	possibly damaging	Het
Ncor1	T	C	11: 62,310,435 (GRCm39)	K204E	possibly damaging	Het
Nmral1	T	A	16: 4,534,346 (GRCm39)	I32F	probably benign	Het
Nrros	T	C	16: 31,963,492 (GRCm39)	D175G	possibly damaging	Het
Or10ak8	G	A	4: 118,773,968 (GRCm39)	T232I	probably benign	Het
Or12j5	T	C	7: 140,084,077 (GRCm39)	I98M	probably benign	Het
Ryr2	A	G	13: 11,587,143 (GRCm39)	F4713L	possibly damaging	Het
Serpinb1b	G	A	13: 33,275,301 (GRCm39)	G142D	possibly damaging	Het
Slc10a1	A	G	12: 81,007,248 (GRCm39)	S178P	possibly damaging	Het
Spint1	G	A	2: 119,068,698 (GRCm39)	R144H	probably benign	Het
Sult6b1	C	T	17: 79,196,504 (GRCm39)	G213R	probably damaging	Het
Themis3	G	T	17: 66,862,900 (GRCm39)	H353N	probably benign	Het
Tpr	T	C	1: 150,289,525 (GRCm39)	S619P	probably benign	Het
Ttn	A	T	2: 76,645,134 (GRCm39)	V11161E	probably damaging	Het
Usp13	G	A	3: 32,987,314 (GRCm39)	V837I	probably damaging	Het
Usp25	T	C	16: 76,880,670 (GRCm39)	V677A	probably benign	Het
Wdr62	A	G	7: 29,942,894 (GRCm39)	V1001A	possibly damaging	Het
Whrn	A	T	4: 63,336,822 (GRCm39)	I580N	possibly damaging	Het
Wls	T	A	3: 159,616,993 (GRCm39)	V344D	probably damaging	Het
Zan	A	T	5: 137,385,222 (GRCm39)	Y5070*	probably null	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
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

2014-05-07