Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01368:Tmem63a'

76013

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 #

IGL01368

Quality Score

Status

Chromosome

Chromosomal Location

180769909-180802677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180797797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 616 (V616A)

Ref Sequence

ENSEMBL: ENSMUSP00000124021 (fasta)

Gene Model

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

AlphaFold

Q91YT8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027800
AA Change: V616A

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: V616A

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

possibly damaging
Transcript: ENSMUST00000161523
AA Change: V616A

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: V616A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,288,770 (GRCm39)	D93E	probably damaging	Het
Adam22	T	C	5: 8,177,411 (GRCm39)	Y566C	probably damaging	Het
Atp8b3	G	A	10: 80,370,063 (GRCm39)		probably benign	Het
Babam1	T	A	8: 71,851,050 (GRCm39)	D104E	probably damaging	Het
Bcl2a1a	T	A	9: 88,839,500 (GRCm39)	W133R	probably damaging	Het
Ckm	C	T	7: 19,150,712 (GRCm39)	Q184*	probably null	Het
Clk4	T	A	11: 51,171,999 (GRCm39)	Y246*	probably null	Het
Cyp3a57	T	C	5: 145,305,878 (GRCm39)	S121P	probably damaging	Het
Eif1ad15	C	T	12: 88,287,858 (GRCm39)	D132N	unknown	Het
Gm8011	T	C	14: 42,287,831 (GRCm39)		probably benign	Het
Gpr153	T	C	4: 152,367,451 (GRCm39)	F434S	probably benign	Het
Gpr158	G	T	2: 21,831,909 (GRCm39)	W1003L	probably damaging	Het
Ighv5-9-1	T	C	12: 113,700,010 (GRCm39)	E34G	probably damaging	Het
Igkv16-104	G	T	6: 68,402,594 (GRCm39)	R2S	possibly damaging	Het
Map3k3	T	C	11: 106,041,215 (GRCm39)	F395L	probably benign	Het
Myof	T	A	19: 37,924,905 (GRCm39)	T1161S	probably damaging	Het
Nlrp9a	T	C	7: 26,257,299 (GRCm39)	S217P	probably damaging	Het
Nol9	T	A	4: 152,142,848 (GRCm39)	N687K	probably benign	Het
Or10ad1	T	C	15: 98,105,381 (GRCm39)	I295V	probably damaging	Het
Or11h23	T	C	14: 50,948,450 (GRCm39)	V221A	possibly damaging	Het
Or2ag15	T	C	7: 106,340,829 (GRCm39)	E104G	probably benign	Het
Or8g33	A	T	9: 39,337,476 (GRCm39)	V297D	probably damaging	Het
Prss1l	A	G	6: 41,373,620 (GRCm39)	D161G	possibly damaging	Het
Rrh	T	C	3: 129,602,618 (GRCm39)	D229G	probably benign	Het
Sclt1	T	C	3: 41,665,610 (GRCm39)	T153A	probably damaging	Het
Slc41a1	G	A	1: 131,766,862 (GRCm39)	V127I	probably damaging	Het
Smarca2	C	T	19: 26,751,694 (GRCm39)	S214L	possibly damaging	Het
Ubr1	A	G	2: 120,771,612 (GRCm39)		probably benign	Het
Vmn1r228	A	G	17: 20,996,774 (GRCm39)	L248P	probably benign	Het
Zdhhc16	T	A	19: 41,929,945 (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
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
IGL02453:Tmem63a	APN	1	180,790,634 (GRCm39)	missense	probably benign	0.02
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

2013-10-07