Mutagenetix > Incidental Mutation

Incidental Mutation 'R8296:Tmem63a'

638914

Institutional Source

Beutler Lab

Gene Symbol

Tmem63a

Ensembl Gene

ENSMUSG00000026519

Gene Name

transmembrane protein 63a

Synonyms

MMRRC Submission

067785-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180769909-180802677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 180788685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 341 (V341F)

Ref Sequence

ENSEMBL: ENSMUSP00000027800 (fasta)

Gene Model

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

AlphaFold

Q91YT8

Predicted Effect

probably benign
Transcript: ENSMUST00000027800
AA Change: V341F

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: V341F

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

probably benign
Transcript: ENSMUST00000161523
AA Change: V341F

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: V341F

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

Meta Mutation Damage Score

0.3470

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,415,896 (GRCm39)	L663Q	probably damaging	Het
2610008E11Rik	C	G	10: 78,903,568 (GRCm39)	R249S	probably benign	Het
6030469F06Rik	A	G	12: 31,235,058 (GRCm39)	N146S	noncoding transcript	Het
Abcb5	G	A	12: 118,838,467 (GRCm39)	P1032S	probably benign	Het
Acvr2a	A	T	2: 48,789,736 (GRCm39)	D493V	possibly damaging	Het
Amacr	A	G	15: 10,995,004 (GRCm39)	D272G	probably benign	Het
Bach1	A	C	16: 87,526,467 (GRCm39)	K643T	probably damaging	Het
Bmt2	T	C	6: 13,628,672 (GRCm39)	Y337C	probably damaging	Het
Bsn	A	G	9: 107,994,578 (GRCm39)	S566P	probably benign	Het
Cass4	A	C	2: 172,269,094 (GRCm39)	D392A	probably benign	Het
Cbx2	A	G	11: 118,918,954 (GRCm39)	E173G	probably damaging	Het
Ccdc166	G	C	15: 75,852,860 (GRCm39)	A369G	probably benign	Het
Ccdc77	G	A	6: 120,308,870 (GRCm39)	T315M	possibly damaging	Het
Ceacam10	C	A	7: 24,480,513 (GRCm39)	H215N	unknown	Het
Ces1e	C	T	8: 93,929,947 (GRCm39)	M445I	probably benign	Het
Ces2b	T	G	8: 105,563,112 (GRCm39)	V350G	possibly damaging	Het
Chtf18	A	G	17: 25,941,165 (GRCm39)	L611P	probably benign	Het
Col9a1	C	A	1: 24,217,380 (GRCm39)	P19T	unknown	Het
Csf1r	A	T	18: 61,250,750 (GRCm39)	N487I	probably damaging	Het
Csl	A	T	10: 99,594,161 (GRCm39)	H301Q	probably damaging	Het
Cyp24a1	G	A	2: 170,332,036 (GRCm39)	T330M	probably damaging	Het
Ddb2	T	C	2: 91,042,645 (GRCm39)	D405G	probably damaging	Het
Degs1	A	G	1: 182,110,241 (GRCm39)	F10L	probably benign	Het
Dhrs2	T	A	14: 55,477,928 (GRCm39)	I220N	probably damaging	Het
Dlg5	T	C	14: 24,198,328 (GRCm39)	D1535G	possibly damaging	Het
Dpy19l1	A	G	9: 24,414,372 (GRCm39)	S19P	probably benign	Het
Eif3l	A	C	15: 78,963,220 (GRCm39)	E134A	possibly damaging	Het
Epb41	C	A	4: 131,664,772 (GRCm39)	V90L		Het
Flad1	A	T	3: 89,316,109 (GRCm39)	V151D	probably damaging	Het
Gja10	A	T	4: 32,601,568 (GRCm39)	I272N	probably benign	Het
Glmp	T	A	3: 88,233,580 (GRCm39)	D178E	probably benign	Het
Gm16494	G	A	17: 47,327,750 (GRCm39)	P45S	probably damaging	Het
Gm4553	T	C	7: 141,719,458 (GRCm39)	D6G	unknown	Het
Grid2	G	A	6: 63,233,929 (GRCm39)		probably null	Het
Icmt	A	G	4: 152,387,482 (GRCm39)	M226V	probably benign	Het
Igkv5-39	T	C	6: 69,877,607 (GRCm39)	S50G	probably benign	Het
Ints5	T	C	19: 8,872,484 (GRCm39)	S148P	probably damaging	Het
Itga2b	A	C	11: 102,351,985 (GRCm39)	V504G	possibly damaging	Het
Krt20	T	A	11: 99,323,063 (GRCm39)	Y253F	probably damaging	Het
Man2a2	T	A	7: 80,018,656 (GRCm39)	I68L	probably damaging	Het
Mpi	G	A	9: 57,455,954 (GRCm39)	T176I	probably benign	Het
Msh6	C	T	17: 88,294,340 (GRCm39)	R1032C	probably damaging	Het
Myot	C	T	18: 44,475,416 (GRCm39)	T179I	probably damaging	Het
Neb	A	G	2: 52,116,601 (GRCm39)	S946P		Het
Notch3	G	A	17: 32,341,713 (GRCm39)	A2013V	probably damaging	Het
Nr1d1	T	C	11: 98,662,133 (GRCm39)	Y167C	probably damaging	Het
Or52h7	T	A	7: 104,213,593 (GRCm39)	F55Y	probably benign	Het
Or52n2c	T	C	7: 104,574,828 (GRCm39)	I48V	probably benign	Het
Or7g32	A	G	9: 19,408,377 (GRCm39)	E111G	probably damaging	Het
Or8k40	A	C	2: 86,584,893 (GRCm39)	L63R	probably damaging	Het
P4ha3	G	A	7: 99,966,309 (GRCm39)	V485M	probably damaging	Het
Pbk	T	A	14: 66,054,185 (GRCm39)	C243*	probably null	Het
Pde4b	T	A	4: 102,459,983 (GRCm39)	L388H	possibly damaging	Het
Pecam1	T	C	11: 106,579,745 (GRCm39)	D439G	probably benign	Het
Pknox2	A	T	9: 36,822,459 (GRCm39)	M230K	probably benign	Het
Plekhh2	A	G	17: 84,908,113 (GRCm39)	I1185V	probably damaging	Het
Polr3g	A	G	13: 81,842,682 (GRCm39)	V111A	unknown	Het
Prkcg	G	C	7: 3,377,580 (GRCm39)	E562D	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf123	A	T	9: 107,940,089 (GRCm39)	V768D	probably damaging	Het
Rps16	T	A	7: 28,052,008 (GRCm39)	S129T	probably benign	Het
Scg2	A	T	1: 79,413,222 (GRCm39)	N460K	probably benign	Het
Sct	T	C	7: 140,858,807 (GRCm39)	S42G	probably damaging	Het
Spef2	A	T	15: 9,727,629 (GRCm39)	N151K	probably benign	Het
Syce1l	C	A	8: 114,380,721 (GRCm39)	D144E	possibly damaging	Het
Syt17	T	C	7: 118,036,069 (GRCm39)	Y99C	probably damaging	Het
Tgfbr3	T	C	5: 107,287,640 (GRCm39)	N520D	probably damaging	Het
Thsd7b	A	G	1: 129,523,193 (GRCm39)	S76G	probably benign	Het
Trim5	A	G	7: 103,914,993 (GRCm39)	S359P	probably damaging	Het
Tst	A	T	15: 78,284,020 (GRCm39)	V269E	probably damaging	Het
Ubr3	A	T	2: 69,784,706 (GRCm39)	I808F	probably null	Het
Ugt3a1	T	A	15: 9,362,024 (GRCm39)	Y267N	probably benign	Het
Wwc1	A	T	11: 35,761,384 (GRCm39)		probably benign	Het
Zfp36l2	G	T	17: 84,494,552 (GRCm39)	N28K	probably damaging	Het
Zfp57	A	G	17: 37,321,136 (GRCm39)	D330G	probably benign	Het
Zgrf1	C	A	3: 127,377,644 (GRCm39)	S963Y	probably damaging	Het
Zranb2	A	G	3: 157,247,412 (GRCm39)	K197E	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGGGGCTAGGGATGTAAC -3'
(R):5'- CTGGTAGAGGTCAGCAAGAACC -3'

Sequencing Primer
(F):5'- GTGTTTAGCATTTACACACACACAC -3'
(R):5'- GGTCAGCAAGAACCGAGCC -3'

Posted On

2020-07-28