Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01401:Gm20721'

79631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm20721

Ensembl Gene

ENSMUSG00000090625

Gene Name

predicted gene, 20721

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01401

Quality Score

Status

Chromosome

Chromosomal Location

174172112-174188505 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 174187295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 999 (D999G)

Ref Sequence

ENSEMBL: ENSMUSP00000140174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080493] [ENSMUST00000087871] [ENSMUST00000087876] [ENSMUST00000109084] [ENSMUST00000109085] [ENSMUST00000109087] [ENSMUST00000109088] [ENSMUST00000168292] [ENSMUST00000185956] [ENSMUST00000130940] [ENSMUST00000186907] [ENSMUST00000109096]

AlphaFold

E9Q2U8

Predicted Effect

probably damaging
Transcript: ENSMUST00000080493
AA Change: D999G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079341
Gene: ENSMUSG00000027523
AA Change: D999G

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
internal_repeat_1	89	166	3.02e-8	PROSPERO
internal_repeat_1	209	276	3.02e-8	PROSPERO
low complexity region	350	365	N/A	INTRINSIC
low complexity region	391	404	N/A	INTRINSIC
low complexity region	459	477	N/A	INTRINSIC
low complexity region	480	498	N/A	INTRINSIC
low complexity region	515	525	N/A	INTRINSIC
low complexity region	535	570	N/A	INTRINSIC
low complexity region	576	626	N/A	INTRINSIC
low complexity region	633	643	N/A	INTRINSIC
low complexity region	659	678	N/A	INTRINSIC
low complexity region	685	696	N/A	INTRINSIC
G_alpha	759	1132	5.01e-185	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000087871
AA Change: D260G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085179
Gene: ENSMUSG00000027523
AA Change: D260G

Domain	Start	End	E-Value	Type
G_alpha	20	393	1.27e-186	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000087876
AA Change: D985G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085184
Gene: ENSMUSG00000027523
AA Change: D985G

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
internal_repeat_1	89	166	2.42e-8	PROSPERO
internal_repeat_1	209	276	2.42e-8	PROSPERO
low complexity region	350	365	N/A	INTRINSIC
low complexity region	391	404	N/A	INTRINSIC
low complexity region	459	477	N/A	INTRINSIC
low complexity region	480	498	N/A	INTRINSIC
low complexity region	515	525	N/A	INTRINSIC
low complexity region	535	570	N/A	INTRINSIC
low complexity region	576	626	N/A	INTRINSIC
low complexity region	633	643	N/A	INTRINSIC
low complexity region	659	678	N/A	INTRINSIC
low complexity region	685	696	N/A	INTRINSIC
G_alpha	759	1118	8.32e-191	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109084
AA Change: D245G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104712
Gene: ENSMUSG00000027523
AA Change: D245G

Domain	Start	End	E-Value	Type
G_alpha	20	378	1.23e-193	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109085
AA Change: D246G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104713
Gene: ENSMUSG00000027523
AA Change: D246G

Domain	Start	End	E-Value	Type
G_alpha	20	379	1.97e-192	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109087
AA Change: D260G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104715
Gene: ENSMUSG00000027523
AA Change: D260G

Domain	Start	End	E-Value	Type
G_alpha	20	393	1.27e-186	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109088

SMART Domains

Protein: ENSMUSP00000104716
Gene: ENSMUSG00000027523

Domain	Start	End	E-Value	Type
low complexity region	192	209	N/A	INTRINSIC
low complexity region	336	352	N/A	INTRINSIC
low complexity region	402	415	N/A	INTRINSIC
low complexity region	421	446	N/A	INTRINSIC
low complexity region	459	481	N/A	INTRINSIC
low complexity region	493	510	N/A	INTRINSIC
low complexity region	529	599	N/A	INTRINSIC
low complexity region	643	658	N/A	INTRINSIC
low complexity region	700	716	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000168292
AA Change: V128A

SMART Domains

Protein: ENSMUSP00000127452
Gene: ENSMUSG00000090625
AA Change: V128A

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
low complexity region	117	129	N/A	INTRINSIC
low complexity region	148	165	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129534

Predicted Effect

probably damaging
Transcript: ENSMUST00000185956
AA Change: D999G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140174
Gene: ENSMUSG00000027523
AA Change: D999G

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
internal_repeat_1	89	166	3.02e-8	PROSPERO
internal_repeat_1	209	276	3.02e-8	PROSPERO
low complexity region	350	365	N/A	INTRINSIC
low complexity region	391	404	N/A	INTRINSIC
low complexity region	459	477	N/A	INTRINSIC
low complexity region	480	498	N/A	INTRINSIC
low complexity region	515	525	N/A	INTRINSIC
low complexity region	535	570	N/A	INTRINSIC
low complexity region	576	626	N/A	INTRINSIC
low complexity region	633	643	N/A	INTRINSIC
low complexity region	659	678	N/A	INTRINSIC
low complexity region	685	696	N/A	INTRINSIC
G_alpha	759	1132	5.01e-185	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148640

Predicted Effect

probably benign
Transcript: ENSMUST00000130940

SMART Domains

Protein: ENSMUSP00000118210
Gene: ENSMUSG00000027523

Domain	Start	End	E-Value	Type
Pfam:NESP55	1	59	1.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186907

SMART Domains

Protein: ENSMUSP00000139839
Gene: ENSMUSG00000027523

Domain	Start	End	E-Value	Type
low complexity region	192	209	N/A	INTRINSIC
low complexity region	336	352	N/A	INTRINSIC
low complexity region	402	415	N/A	INTRINSIC
low complexity region	421	446	N/A	INTRINSIC
low complexity region	459	481	N/A	INTRINSIC
low complexity region	493	510	N/A	INTRINSIC
low complexity region	529	599	N/A	INTRINSIC
low complexity region	643	658	N/A	INTRINSIC
low complexity region	700	716	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109096

SMART Domains

Protein: ENSMUSP00000104724
Gene: ENSMUSG00000027523

Domain	Start	End	E-Value	Type
Pfam:NESP55	1	253	1.2e-157	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,836,516 (GRCm39)	V758A	possibly damaging	Het
Arf4	T	C	14: 26,359,609 (GRCm39)	L12P	probably damaging	Het
Bltp1	A	G	3: 36,996,441 (GRCm39)	N1051S	probably benign	Het
C4bp	A	T	1: 130,575,801 (GRCm39)	V230E	possibly damaging	Het
Carm1	T	A	9: 21,480,878 (GRCm39)		probably null	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Ceacam16	T	C	7: 19,595,054 (GRCm39)	Y8C	probably benign	Het
Ckap2l	A	T	2: 129,111,136 (GRCm39)	V687E	probably damaging	Het
Dcaf4	A	G	12: 83,588,148 (GRCm39)	D449G	probably damaging	Het
Dhx38	T	C	8: 110,278,746 (GRCm39)	Y1113C	probably benign	Het
Fry	A	G	5: 150,362,253 (GRCm39)	I161V	probably benign	Het
Gm17093	A	C	14: 44,758,984 (GRCm39)	M169L	unknown	Het
Grin2b	T	C	6: 135,713,361 (GRCm39)	H840R	probably damaging	Het
Hoxc12	C	A	15: 102,845,755 (GRCm39)	H156Q	probably benign	Het
Htr3b	T	C	9: 48,858,934 (GRCm39)	D68G	probably damaging	Het
Inpp5b	T	C	4: 124,639,880 (GRCm39)	V99A	probably damaging	Het
Klhl42	C	T	6: 147,009,241 (GRCm39)	T360M	probably benign	Het
Lmo7	C	T	14: 102,031,713 (GRCm39)	R36*	probably null	Het
Lmod3	T	G	6: 97,229,513 (GRCm39)	N7T	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mthfd2l	T	A	5: 91,148,425 (GRCm39)	I284K	possibly damaging	Het
Myo1e	T	A	9: 70,234,448 (GRCm39)	I267N	probably damaging	Het
Or13c7d	T	C	4: 43,770,112 (GRCm39)	R300G	probably damaging	Het
Or2y1g	T	A	11: 49,171,314 (GRCm39)	V113E	possibly damaging	Het
Prkce	T	C	17: 86,476,268 (GRCm39)	V83A	probably damaging	Het
Pxdn	G	T	12: 30,051,983 (GRCm39)	C540F	probably damaging	Het
Resf1	A	G	6: 149,228,394 (GRCm39)	E480G	probably damaging	Het
Ryr2	T	A	13: 11,606,238 (GRCm39)	E4448V	possibly damaging	Het
Scn1a	A	T	2: 66,119,455 (GRCm39)	N1349K	probably damaging	Het
Smarcc1	T	C	9: 109,979,033 (GRCm39)	I172T	possibly damaging	Het
Syt16	T	C	12: 74,269,437 (GRCm39)	V92A	possibly damaging	Het
Tenm4	A	G	7: 96,523,474 (GRCm39)	Y1672C	probably damaging	Het
Tmem131	A	G	1: 36,838,468 (GRCm39)	Y1486H	probably damaging	Het
Tmem132a	A	G	19: 10,838,888 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,921,920 (GRCm39)	D314E	probably damaging	Het
Vmn2r79	G	A	7: 86,686,481 (GRCm39)	V621I	probably benign	Het
Wnk4	A	G	11: 101,167,509 (GRCm39)		probably benign	Het
Wwc1	C	A	11: 35,789,445 (GRCm39)		probably null	Het

Other mutations in Gm20721

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Gm20721	APN	2	174,187,531 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05