Mutagenetix > Incidental Mutations

Incidental Mutation 'R3961:Tmem63a'

312073

Institutional Source

Beutler Lab

Gene Symbol

Tmem63a

Ensembl Gene

ENSMUSG00000026519

Gene Name

transmembrane protein 63a

Synonyms

MMRRC Submission

040836-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R3961 (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: 97.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,947,976	T595A	possibly damaging	Het
AF529169	G	A	9: 89,601,910	T478I	probably damaging	Het
Bicral	T	C	17: 46,824,825	I486M	probably damaging	Het
Btbd1	C	A	7: 81,818,335	E146*	probably null	Het
Cdcp1	T	C	9: 123,182,381	T344A	possibly damaging	Het
Cenpm	A	T	15: 82,234,373	L180Q	possibly damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Dazl	A	G	17: 50,288,133	V91A	probably damaging	Het
Dsc2	C	T	18: 20,051,227	V35I	probably damaging	Het
Fras1	T	C	5: 96,677,385		probably null	Het
Ltbp3	G	A	19: 5,754,022	R854Q	probably benign	Het
Mme	T	A	3: 63,345,192	M419K	probably damaging	Het
Ncan	G	A	8: 70,110,300	T436M	probably benign	Het
Nphp3	G	T	9: 104,003,042	E88*	probably null	Het
Olfr993	T	C	2: 85,414,872	I2M	possibly damaging	Het
Pdcl	T	C	2: 37,352,187	M184V	probably benign	Het
Polr3b	T	C	10: 84,684,302	M694T	possibly damaging	Het
Pramef8	T	A	4: 143,419,318	N452K	probably benign	Het
Prkdc	T	G	16: 15,829,611		probably null	Het
Prss35	A	G	9: 86,755,749	M191V	probably benign	Het
Rtn3	T	C	19: 7,458,145	S142G	probably damaging	Het
Slc19a3	A	T	1: 83,022,957	F113Y	probably damaging	Het
Taf7	A	G	18: 37,643,121	V131A	probably benign	Het
Tesk1	A	G	4: 43,445,133		probably null	Het
Tmem131	C	T	1: 36,818,950	D741N	probably damaging	Het
Tpte	A	G	8: 22,359,415	S553G	probably damaging	Het
Trpv3	A	T	11: 73,287,420	K438*	probably null	Het
Vmn2r107	G	A	17: 20,375,455	G757R	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
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
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'- CGGATGTCCATGTCTGAGAG -3'
(R):5'- GCCTGCTTTCAGCTTAAAAGGC -3'

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

Posted On

2015-04-29