Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01559:Gm10642'

90803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10642

Ensembl Gene

ENSMUSG00000074213

Gene Name

predicted gene 10642

Synonyms

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL01559

Quality Score

Status

Chromosome

Chromosomal Location

70656251-70657860 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70656592 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 152 (D152V)

Ref Sequence

ENSEMBL: ENSMUSP00000150300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049031] [ENSMUST00000098589] [ENSMUST00000213380]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049031
AA Change: D152V

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

SMART Domains

Protein: ENSMUSP00000037035
Gene: ENSMUSG00000042444
AA Change: D152V

Domain	Start	End	E-Value	Type
low complexity region	22	41	N/A	INTRINSIC
low complexity region	79	86	N/A	INTRINSIC
low complexity region	126	173	N/A	INTRINSIC
low complexity region	186	195	N/A	INTRINSIC
Pfam:DUF544	250	373	6.9e-42	PFAM
low complexity region	498	508	N/A	INTRINSIC
low complexity region	535	570	N/A	INTRINSIC
low complexity region	578	595	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000098589
AA Change: V10D

SMART Domains

Protein: ENSMUSP00000096188
Gene: ENSMUSG00000074213
AA Change: V10D

Domain	Start	End	E-Value	Type
low complexity region	12	39	N/A	INTRINSIC
low complexity region	55	67	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000213380
AA Change: D152V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214293

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,309,020	N2915K	possibly damaging	Het
Abca5	T	C	11: 110,272,526	N1621S	probably benign	Het
Asb18	G	A	1: 89,954,450	S122F	probably damaging	Het
Atg4c	A	G	4: 99,218,203		probably benign	Het
Bbs7	T	C	3: 36,594,510	Y363C	probably damaging	Het
Celsr2	T	C	3: 108,406,867	T1281A	possibly damaging	Het
Cers1	A	G	8: 70,323,233	N295S	probably damaging	Het
Csn1s2b	A	T	5: 87,820,951	K80*	probably null	Het
Dennd6a	A	G	14: 26,608,565	D97G	probably damaging	Het
Dmxl1	A	G	18: 49,920,938	Y2537C	probably damaging	Het
Dnah6	A	G	6: 73,024,252		probably null	Het
Exoc4	A	G	6: 33,266,076	T75A	probably damaging	Het
Fbll1	T	C	11: 35,797,545	E297G	probably damaging	Het
Hdac3	A	G	18: 37,943,672		probably benign	Het
Kif17	A	G	4: 138,293,769	I850V	probably damaging	Het
Olfr166	T	C	16: 19,487,459	L207P	probably benign	Het
Pi4kb	T	A	3: 94,984,129	L52Q	probably benign	Het
Sec14l1	C	A	11: 117,143,284		probably null	Het
Slc28a2	T	A	2: 122,454,540	H336Q	probably damaging	Het
Usp17lb	A	G	7: 104,841,229	S164P	probably damaging	Het

Posted On

2013-12-09