Mutagenetix > Incidental Mutation

Incidental Mutation 'R8116:Tmem63a'

631178

Institutional Source

Beutler Lab

Gene Symbol

Tmem63a

Ensembl Gene

ENSMUSG00000026519

Gene Name

transmembrane protein 63a

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180942344-180975112 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 180960483 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 267 (K267N)

Ref Sequence

ENSEMBL: ENSMUSP00000027800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027800] [ENSMUST00000159436] [ENSMUST00000161523]

AlphaFold

Q91YT8

Predicted Effect

probably benign
Transcript: ENSMUST00000027800
AA Change: K267N

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: K267N

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: ENSMUST00000159436

SMART Domains

Protein: ENSMUSP00000125192
Gene: ENSMUSG00000026519

Domain	Start	End	E-Value	Type
Pfam:RSN1_TM	50	173	2.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161523
AA Change: K267N

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: K267N

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

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,091,594	N7K	probably benign	Het
Akap9	T	A	5: 4,061,183	D3081E	probably benign	Het
Amer2	G	A	14: 60,379,405	A350T	probably damaging	Het
Amotl1	A	G	9: 14,555,572		probably null	Het
Ankib1	A	T	5: 3,702,995	V651E	probably damaging	Het
Aox1	T	C	1: 58,076,124	V756A	probably damaging	Het
Arap2	A	C	5: 62,730,611	I464S	probably benign	Het
Atp8a2	A	C	14: 60,026,208	M359R	probably damaging	Het
Aunip	T	C	4: 134,523,307	S188P	possibly damaging	Het
Cdt1	A	G	8: 122,571,989	E455G	probably benign	Het
Cyp2r1	G	T	7: 114,550,355	H475N	probably benign	Het
Dnah7a	G	T	1: 53,503,890	H2374N	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Dst	G	A	1: 34,274,180	A4343T	probably benign	Het
Efcab3	A	G	11: 105,111,851	D304G	possibly damaging	Het
Efcc1	T	C	6: 87,751,790	L409P	probably damaging	Het
Eno1	G	T	4: 150,241,069	S37I	probably damaging	Het
Ermp1	A	T	19: 29,623,796	L517Q	probably damaging	Het
Farp1	T	G	14: 121,233,820	I196S	probably damaging	Het
Fbxo21	A	G	5: 117,990,854	T310A	possibly damaging	Het
Fbxo31	C	T	8: 121,560,388	V149M	probably damaging	Het
Ggcx	C	A	6: 72,429,528	T658N	possibly damaging	Het
Gm884	A	T	11: 103,543,289	M3018K	unknown	Het
Gpc5	A	C	14: 115,399,225	H440P	probably damaging	Het
H13	C	T	2: 152,695,526	A297V	probably damaging	Het
H2-DMb1	T	A	17: 34,155,469	L31Q	probably damaging	Het
Ifi207	G	A	1: 173,730,180	P331S	unknown	Het
Il11ra1	G	T	4: 41,766,251	A263S	probably benign	Het
Il1a	C	A	2: 129,302,944	V185F	probably damaging	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Kdm4d	T	A	9: 14,463,941	K207M	probably damaging	Het
Lrrc4b	T	C	7: 44,461,109	L135P	probably damaging	Het
Lrrk1	A	G	7: 66,262,623	Y1730H	possibly damaging	Het
Mcpt2	C	A	14: 56,042,206	A18D	probably damaging	Het
Mtmr4	C	T	11: 87,611,930	R937*	probably null	Het
Muc16	T	A	9: 18,658,737	T829S	unknown	Het
Mum1	G	A	10: 80,240,397	G474S	probably damaging	Het
Myof	A	C	19: 37,932,719	I1365S	probably damaging	Het
Npc2	C	T	12: 84,760,838	R82Q	probably benign	Het
Olfr1123	T	A	2: 87,418,737	S228T	probably damaging	Het
Olfr117	G	A	17: 37,659,740	L198F	probably damaging	Het
Olfr1295	T	C	2: 111,565,438	D2G	probably benign	Het
Olfr418	T	A	1: 173,270,480	F102I	possibly damaging	Het
Olfr918	A	T	9: 38,673,168	I92N	possibly damaging	Het
Olfr926	T	A	9: 38,877,730	S185T	probably damaging	Het
Olfr934	A	T	9: 38,982,873	M57K	probably damaging	Het
Pdzph1	T	C	17: 58,975,143	N48S	probably benign	Het
Plce1	A	T	19: 38,524,818	H187L	probably benign	Het
Pramel6	G	T	2: 87,508,464	V3F	probably benign	Het
Prr5l	CCTCGCTCGCTCGCTCGC	CCTCGCTCGCTCGC	2: 101,797,574		probably null	Het
Rabgap1l	A	G	1: 160,702,442	Y358H	probably benign	Het
Rbbp8	T	C	18: 11,722,670	S625P	probably damaging	Het
Rhot1	A	T	11: 80,251,053	K461I	probably benign	Het
Rpa1	G	A	11: 75,302,675	T610I	possibly damaging	Het
Ryr1	G	T	7: 29,110,883	H316N	probably benign	Het
Shprh	T	C	10: 11,213,461	S1648P	probably damaging	Het
Sipa1	A	T	19: 5,652,112	D923E	possibly damaging	Het
Spata6	A	G	4: 111,828,320	Y474C	possibly damaging	Het
Sptbn1	A	T	11: 30,139,117	I715N	probably damaging	Het
Stab1	A	T	14: 31,158,953	D627E	possibly damaging	Het
Stard9	T	A	2: 120,664,939	C98*	probably null	Het
Tfpi2	T	C	6: 3,963,872	T187A	probably damaging	Het
Topaz1	C	T	9: 122,775,643	A1104V	probably benign	Het
Trmt11	A	G	10: 30,566,494	I231T	possibly damaging	Het
Utp15	G	A	13: 98,250,863	T401I	probably benign	Het
Vmn2r13	T	C	5: 109,175,060	K121R	probably benign	Het
Xab2	C	T	8: 3,613,830	R363H	probably damaging	Het
Zfand2b	T	A	1: 75,168,860	F3L	possibly damaging	Het
Zfyve28	A	T	5: 34,217,600	S357T	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAATTATCAGACAGAGGCGTC -3'
(R):5'- AGGTAAGGCTCTTCTCGGTC -3'

Sequencing Primer
(F):5'- TTATCAGACAGAGGCGTCATGAC -3'
(R):5'- ACAATCAGTCACCGGCAGGG -3'

Posted On

2020-06-30