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

Is this an essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

IGL01368

Quality Score

Status

Chromosome

Chromosomal Location

180942344-180975112 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180970232 bp (GRCm38)

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: 103,051,334	D93E	probably damaging	Het
Adam22	T	C	5: 8,127,411	Y566C	probably damaging	Het
Atp8b3	G	A	10: 80,534,229		probably benign	Het
Babam1	T	A	8: 71,398,406	D104E	probably damaging	Het
Bcl2a1a	T	A	9: 88,957,447	W133R	probably damaging	Het
Ckm	C	T	7: 19,416,787	Q184*	probably null	Het
Clk4	T	A	11: 51,281,172	Y246*	probably null	Het
Cyp3a57	T	C	5: 145,369,068	S121P	probably damaging	Het
Gm5039	C	T	12: 88,321,088	D132N	unknown	Het
Gm5771	A	G	6: 41,396,686	D161G	possibly damaging	Het
Gm8011	T	C	14: 42,465,874		probably benign	Het
Gpr153	T	C	4: 152,282,994	F434S	probably benign	Het
Gpr158	G	T	2: 21,827,098	W1003L	probably damaging	Het
Ighv5-9-1	T	C	12: 113,736,390	E34G	probably damaging	Het
Igkv16-104	G	T	6: 68,425,610	R2S	possibly damaging	Het
Map3k3	T	C	11: 106,150,389	F395L	probably benign	Het
Myof	T	A	19: 37,936,457	T1161S	probably damaging	Het
Nlrp9a	T	C	7: 26,557,874	S217P	probably damaging	Het
Nol9	T	A	4: 152,058,391	N687K	probably benign	Het
Olfr287	T	C	15: 98,207,500	I295V	probably damaging	Het
Olfr697	T	C	7: 106,741,622	E104G	probably benign	Het
Olfr748	T	C	14: 50,710,993	V221A	possibly damaging	Het
Olfr952	A	T	9: 39,426,180	V297D	probably damaging	Het
Rrh	T	C	3: 129,808,969	D229G	probably benign	Het
Sclt1	T	C	3: 41,711,175	T153A	probably damaging	Het
Slc41a1	G	A	1: 131,839,124	V127I	probably damaging	Het
Smarca2	C	T	19: 26,774,294	S214L	possibly damaging	Het
Ubr1	A	G	2: 120,941,131		probably benign	Het
Vmn1r228	A	G	17: 20,776,512	L248P	probably benign	Het
Zdhhc16	T	A	19: 41,941,506		probably null	Het

Other mutations in Tmem63a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Tmem63a	APN	1	180963088	missense	probably damaging	1.00
IGL00331:Tmem63a	APN	1	180966497	missense	possibly damaging	0.46
IGL01116:Tmem63a	APN	1	180972089	missense	probably damaging	0.96
IGL01445:Tmem63a	APN	1	180946631	missense	probably damaging	1.00
IGL01867:Tmem63a	APN	1	180956005	missense	possibly damaging	0.87
IGL02043:Tmem63a	APN	1	180972788	missense	probably benign	0.11
IGL02453:Tmem63a	APN	1	180963069	missense	probably benign	0.02
IGL02527:Tmem63a	APN	1	180952974	splice site	probably null
IGL02811:Tmem63a	APN	1	180965783	missense	probably damaging	0.99
IGL02975:Tmem63a	APN	1	180961075	missense	probably benign
IGL03304:Tmem63a	APN	1	180968853	nonsense	probably null
R0029:Tmem63a	UTSW	1	180962466	missense	probably benign	0.01
R0029:Tmem63a	UTSW	1	180962466	missense	probably benign	0.01
R0173:Tmem63a	UTSW	1	180954798	splice site	probably benign
R0358:Tmem63a	UTSW	1	180956423	missense	probably benign	0.17
R0436:Tmem63a	UTSW	1	180972733	missense	probably benign	0.03
R0506:Tmem63a	UTSW	1	180958049	critical splice donor site	probably null
R0513:Tmem63a	UTSW	1	180960461	missense	probably benign	0.00
R0529:Tmem63a	UTSW	1	180961094	missense	probably benign	0.09
R0855:Tmem63a	UTSW	1	180961060	missense	possibly damaging	0.82
R1633:Tmem63a	UTSW	1	180948826	missense	probably damaging	0.98
R2129:Tmem63a	UTSW	1	180965540	missense	probably benign	0.00
R2212:Tmem63a	UTSW	1	180963114	missense	possibly damaging	0.48
R2214:Tmem63a	UTSW	1	180961114	missense	probably benign	0.00
R2413:Tmem63a	UTSW	1	180961075	missense	probably benign
R2437:Tmem63a	UTSW	1	180962489	splice site	probably null
R3703:Tmem63a	UTSW	1	180963114	missense	possibly damaging	0.48
R3704:Tmem63a	UTSW	1	180963114	missense	possibly damaging	0.48
R3705:Tmem63a	UTSW	1	180963114	missense	possibly damaging	0.48
R3714:Tmem63a	UTSW	1	180963114	missense	possibly damaging	0.48
R3746:Tmem63a	UTSW	1	180963114	missense	possibly damaging	0.48
R3747:Tmem63a	UTSW	1	180963114	missense	possibly damaging	0.48
R3961:Tmem63a	UTSW	1	180963114	missense	possibly damaging	0.48
R3963:Tmem63a	UTSW	1	180963114	missense	possibly damaging	0.48
R4675:Tmem63a	UTSW	1	180956491	missense	probably benign	0.00
R4795:Tmem63a	UTSW	1	180954851	missense	probably damaging	1.00
R4876:Tmem63a	UTSW	1	180973186	missense	probably benign
R4916:Tmem63a	UTSW	1	180966521	missense	probably benign	0.36
R4917:Tmem63a	UTSW	1	180966521	missense	probably benign	0.36
R4918:Tmem63a	UTSW	1	180966521	missense	probably benign	0.36
R5620:Tmem63a	UTSW	1	180970246	missense	probably benign	0.00
R5843:Tmem63a	UTSW	1	180972833	critical splice donor site	probably null
R5937:Tmem63a	UTSW	1	180961151	missense	probably damaging	1.00
R6823:Tmem63a	UTSW	1	180960470	missense	possibly damaging	0.60
R6990:Tmem63a	UTSW	1	180961121	missense	probably benign	0.02
R7075:Tmem63a	UTSW	1	180961149	missense	probably damaging	1.00
R7129:Tmem63a	UTSW	1	180954876	missense	probably damaging	0.98
R7447:Tmem63a	UTSW	1	180958023	missense	probably benign	0.04
R7609:Tmem63a	UTSW	1	180952974	splice site	probably null
R8116:Tmem63a	UTSW	1	180960483	missense	probably benign	0.04
R8141:Tmem63a	UTSW	1	180974211	missense	probably benign	0.06
R8296:Tmem63a	UTSW	1	180961120	missense	probably benign	0.36
R8770:Tmem63a	UTSW	1	180962396	missense	probably benign	0.03
R9642:Tmem63a	UTSW	1	180948828	missense	probably damaging	1.00

Posted On

2013-10-07