Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:Tmem63a'

239428

Institutional Source

Beutler Lab

Gene Symbol

Tmem63a

Ensembl Gene

ENSMUSG00000026519

Gene Name

transmembrane protein 63a

Synonyms

MMRRC Submission

040214-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180942344-180975112 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 180963114 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 446 (D446N)

Ref Sequence

ENSEMBL: ENSMUSP00000124021 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027800
AA Change: D446N

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: D446N

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

possibly damaging
Transcript: ENSMUST00000161523
AA Change: D446N

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: D446N

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

Meta Mutation Damage Score

0.6253

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Angptl4	A	G	17: 33,775,418	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Ehmt2	A	G	17: 34,899,365	S39G	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Fscn2	G	T	11: 120,361,591		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732	L918F	probably damaging	Het
Olfr1396	C	T	11: 49,113,216	C170Y	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	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
IGL01368:Tmem63a	APN	1	180970232	missense	possibly damaging	0.69
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
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

Predicted Primers

PCR Primer
(F):5'- GGATGTCCATGTCTGAGAGAC -3'
(R):5'- CCTGCTTTCAGCTTAAAAGGCC -3'

Sequencing Primer
(F):5'- AGAGACTAAGCCTCTCTCTCGG -3'
(R):5'- TGCTGTGCAAGTATGAAATCCCC -3'

Posted On

2014-10-15