Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02453:Tmem63a'

293737

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem63a

Ensembl Gene

ENSMUSG00000026519

Gene Name

transmembrane protein 63a

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL02453

Quality Score

Status

Chromosome

Chromosomal Location

180769909-180802677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 180790634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 431 (V431M)

Ref Sequence

ENSEMBL: ENSMUSP00000124021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027800] [ENSMUST00000161523]

AlphaFold

Q91YT8

Predicted Effect

probably benign
Transcript: ENSMUST00000027800
AA Change: V431M

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: V431M

Domain	Start	End	E-Value	Type
Pfam:RSN1_TM	50	213	3.3e-24	PFAM
Pfam:PHM7_cyt	261	327	8.2e-12	PFAM
Pfam:RSN1_7TM	349	692	1.5e-87	PFAM
transmembrane domain	697	719	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128545

Predicted Effect

probably benign
Transcript: ENSMUST00000161523
AA Change: V431M

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: V431M

Domain	Start	End	E-Value	Type
Pfam:RSN1_TM	50	213	3.6e-25	PFAM
Pfam:DUF4463	261	326	9.4e-15	PFAM
Pfam:DUF221	349	692	1.4e-87	PFAM
transmembrane domain	697	719	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161942

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,950,075 (GRCm39)		probably null	Het
Actr1b	A	G	1: 36,741,588 (GRCm39)	S51P	probably damaging	Het
Cdhr3	T	C	12: 33,092,502 (GRCm39)	Y703C	probably damaging	Het
Col9a1	A	T	1: 24,218,438 (GRCm39)	L54F	unknown	Het
Crim1	A	G	17: 78,651,913 (GRCm39)	K546E	probably damaging	Het
Dap3	A	G	3: 88,835,634 (GRCm39)	V240A	probably benign	Het
Dmtf1l	G	T	X: 125,722,223 (GRCm39)	S294*	probably null	Het
Dmtf1l	T	C	X: 125,722,686 (GRCm39)	I140V	possibly damaging	Het
Hadha	T	C	5: 30,349,304 (GRCm39)		probably benign	Het
Imp3	G	T	9: 56,845,293 (GRCm39)	R168L	probably benign	Het
Or1b1	A	T	2: 36,995,209 (GRCm39)	V151E	probably benign	Het
Otop2	T	A	11: 115,215,455 (GRCm39)	Y125*	probably null	Het
Pacs1	A	G	19: 5,185,033 (GRCm39)	W931R	probably damaging	Het
Rasgrf1	A	T	9: 89,826,813 (GRCm39)	M141L	possibly damaging	Het
Ryr3	C	A	2: 112,512,073 (GRCm39)		probably benign	Het
Strbp	A	T	2: 37,476,520 (GRCm39)		probably null	Het
Sult2a5	T	A	7: 13,396,432 (GRCm39)	M173K	possibly damaging	Het
Vmn2r114	T	A	17: 23,530,108 (GRCm39)	T100S	probably benign	Het
Wdr45	T	C	X: 7,593,520 (GRCm39)		probably null	Het

Other mutations in Tmem63a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Tmem63a	APN	1	180,790,653 (GRCm39)	missense	probably damaging	1.00
IGL00331:Tmem63a	APN	1	180,794,062 (GRCm39)	missense	possibly damaging	0.46
IGL01116:Tmem63a	APN	1	180,799,654 (GRCm39)	missense	probably damaging	0.96
IGL01368:Tmem63a	APN	1	180,797,797 (GRCm39)	missense	possibly damaging	0.69
IGL01445:Tmem63a	APN	1	180,774,196 (GRCm39)	missense	probably damaging	1.00
IGL01867:Tmem63a	APN	1	180,783,570 (GRCm39)	missense	possibly damaging	0.87
IGL02043:Tmem63a	APN	1	180,800,353 (GRCm39)	missense	probably benign	0.11
IGL02527:Tmem63a	APN	1	180,780,539 (GRCm39)	splice site	probably null
IGL02811:Tmem63a	APN	1	180,793,348 (GRCm39)	missense	probably damaging	0.99
IGL02975:Tmem63a	APN	1	180,788,640 (GRCm39)	missense	probably benign
IGL03304:Tmem63a	APN	1	180,796,418 (GRCm39)	nonsense	probably null
R0029:Tmem63a	UTSW	1	180,790,031 (GRCm39)	missense	probably benign	0.01
R0029:Tmem63a	UTSW	1	180,790,031 (GRCm39)	missense	probably benign	0.01
R0173:Tmem63a	UTSW	1	180,782,363 (GRCm39)	splice site	probably benign
R0358:Tmem63a	UTSW	1	180,783,988 (GRCm39)	missense	probably benign	0.17
R0436:Tmem63a	UTSW	1	180,800,298 (GRCm39)	missense	probably benign	0.03
R0506:Tmem63a	UTSW	1	180,785,614 (GRCm39)	critical splice donor site	probably null
R0513:Tmem63a	UTSW	1	180,788,026 (GRCm39)	missense	probably benign	0.00
R0529:Tmem63a	UTSW	1	180,788,659 (GRCm39)	missense	probably benign	0.09
R0855:Tmem63a	UTSW	1	180,788,625 (GRCm39)	missense	possibly damaging	0.82
R1633:Tmem63a	UTSW	1	180,776,391 (GRCm39)	missense	probably damaging	0.98
R2129:Tmem63a	UTSW	1	180,793,105 (GRCm39)	missense	probably benign	0.00
R2212:Tmem63a	UTSW	1	180,790,679 (GRCm39)	missense	possibly damaging	0.48
R2214:Tmem63a	UTSW	1	180,788,679 (GRCm39)	missense	probably benign	0.00
R2413:Tmem63a	UTSW	1	180,788,640 (GRCm39)	missense	probably benign
R2437:Tmem63a	UTSW	1	180,790,054 (GRCm39)	splice site	probably null
R3703:Tmem63a	UTSW	1	180,790,679 (GRCm39)	missense	possibly damaging	0.48
R3704:Tmem63a	UTSW	1	180,790,679 (GRCm39)	missense	possibly damaging	0.48
R3705:Tmem63a	UTSW	1	180,790,679 (GRCm39)	missense	possibly damaging	0.48
R3714:Tmem63a	UTSW	1	180,790,679 (GRCm39)	missense	possibly damaging	0.48
R3746:Tmem63a	UTSW	1	180,790,679 (GRCm39)	missense	possibly damaging	0.48
R3747:Tmem63a	UTSW	1	180,790,679 (GRCm39)	missense	possibly damaging	0.48
R3961:Tmem63a	UTSW	1	180,790,679 (GRCm39)	missense	possibly damaging	0.48
R3963:Tmem63a	UTSW	1	180,790,679 (GRCm39)	missense	possibly damaging	0.48
R4675:Tmem63a	UTSW	1	180,784,056 (GRCm39)	missense	probably benign	0.00
R4795:Tmem63a	UTSW	1	180,782,416 (GRCm39)	missense	probably damaging	1.00
R4876:Tmem63a	UTSW	1	180,800,751 (GRCm39)	missense	probably benign
R4916:Tmem63a	UTSW	1	180,794,086 (GRCm39)	missense	probably benign	0.36
R4917:Tmem63a	UTSW	1	180,794,086 (GRCm39)	missense	probably benign	0.36
R4918:Tmem63a	UTSW	1	180,794,086 (GRCm39)	missense	probably benign	0.36
R5620:Tmem63a	UTSW	1	180,797,811 (GRCm39)	missense	probably benign	0.00
R5843:Tmem63a	UTSW	1	180,800,398 (GRCm39)	critical splice donor site	probably null
R5937:Tmem63a	UTSW	1	180,788,716 (GRCm39)	missense	probably damaging	1.00
R6823:Tmem63a	UTSW	1	180,788,035 (GRCm39)	missense	possibly damaging	0.60
R6990:Tmem63a	UTSW	1	180,788,686 (GRCm39)	missense	probably benign	0.02
R7075:Tmem63a	UTSW	1	180,788,714 (GRCm39)	missense	probably damaging	1.00
R7129:Tmem63a	UTSW	1	180,782,441 (GRCm39)	missense	probably damaging	0.98
R7447:Tmem63a	UTSW	1	180,785,588 (GRCm39)	missense	probably benign	0.04
R7609:Tmem63a	UTSW	1	180,780,539 (GRCm39)	splice site	probably null
R8116:Tmem63a	UTSW	1	180,788,048 (GRCm39)	missense	probably benign	0.04
R8141:Tmem63a	UTSW	1	180,801,776 (GRCm39)	missense	probably benign	0.06
R8296:Tmem63a	UTSW	1	180,788,685 (GRCm39)	missense	probably benign	0.36
R8770:Tmem63a	UTSW	1	180,789,961 (GRCm39)	missense	probably benign	0.03
R9642:Tmem63a	UTSW	1	180,776,393 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16