Mutagenetix > Incidental Mutation

Incidental Mutation 'R6240:Tmem63c'

505190

Institutional Source

Beutler Lab

Gene Symbol

Tmem63c

Ensembl Gene

ENSMUSG00000034145

Gene Name

transmembrane protein 63c

Synonyms

9330187M14Rik

MMRRC Submission

044364-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87068114-87136817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87123179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 448 (I448F)

Ref Sequence

ENSEMBL: ENSMUSP00000119872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110187] [ENSMUST00000131878] [ENSMUST00000146292] [ENSMUST00000154801]

AlphaFold

Q8CBX0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110187
AA Change: I448F

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105816
Gene: ENSMUSG00000034145
AA Change: I448F

Domain	Start	End	E-Value	Type
Pfam:RSN1_TM	35	204	9.5e-21	PFAM
Pfam:DUF4463	253	323	6.1e-16	PFAM
Pfam:DUF221	341	680	8.9e-89	PFAM
transmembrane domain	682	704	N/A	INTRINSIC
low complexity region	728	737	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131878
AA Change: I448F

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117023
Gene: ENSMUSG00000034145
AA Change: I448F

Domain	Start	End	E-Value	Type
Pfam:RSN1_TM	35	204	9.5e-21	PFAM
Pfam:DUF4463	253	323	6.1e-16	PFAM
Pfam:DUF221	341	680	8.9e-89	PFAM
transmembrane domain	682	704	N/A	INTRINSIC
low complexity region	728	737	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146292
AA Change: I448F

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119872
Gene: ENSMUSG00000034145
AA Change: I448F

Domain	Start	End	E-Value	Type
Pfam:RSN1_TM	35	204	1.6e-20	PFAM
Pfam:PHM7_cyt	253	323	6e-12	PFAM
Pfam:RSN1_7TM	341	680	2.5e-88	PFAM
transmembrane domain	682	704	N/A	INTRINSIC
low complexity region	728	737	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154801

SMART Domains

Protein: ENSMUSP00000119898
Gene: ENSMUSG00000034145

Domain	Start	End	E-Value	Type
Pfam:RSN1_TM	35	179	1.6e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220808

Meta Mutation Damage Score

0.2717

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	A	14: 64,223,701 (GRCm39)	R25L	probably damaging	Het
Adamts1	G	A	16: 85,599,045 (GRCm39)	S185L	probably benign	Het
Adamts12	A	T	15: 11,286,044 (GRCm39)	D751V	probably benign	Het
Adgrg3	A	G	8: 95,766,544 (GRCm39)	D405G	probably benign	Het
Ahi1	A	G	10: 20,852,980 (GRCm39)	D516G	probably damaging	Het
Ahnak	A	T	19: 8,990,947 (GRCm39)	D4077V	probably damaging	Het
Arhgef18	G	A	8: 3,489,658 (GRCm39)	R330Q	probably damaging	Het
Arid1a	A	G	4: 133,407,997 (GRCm39)	V2170A	unknown	Het
Asxl3	C	T	18: 22,598,565 (GRCm39)	L227F	probably damaging	Het
B3glct	A	G	5: 149,650,253 (GRCm39)	I119V	probably benign	Het
Brd10	A	T	19: 29,694,640 (GRCm39)	S1618T	probably benign	Het
Cad	T	A	5: 31,230,322 (GRCm39)	M1512K	probably benign	Het
Cdc25a	A	G	9: 109,713,226 (GRCm39)	T172A	probably damaging	Het
Cdh18	A	G	15: 23,227,022 (GRCm39)	D161G	possibly damaging	Het
Clmp	A	G	9: 40,693,707 (GRCm39)	N308S	probably damaging	Het
Dlg5	A	T	14: 24,199,596 (GRCm39)		probably null	Het
Dscam	G	A	16: 96,420,702 (GRCm39)	T1728M	probably damaging	Het
E4f1	A	G	17: 24,663,556 (GRCm39)	S524P	possibly damaging	Het
Epha5	G	C	5: 84,265,438 (GRCm39)	A452G	probably benign	Het
Fzd3	T	C	14: 65,447,304 (GRCm39)	T542A	probably damaging	Het
Glyctk	A	T	9: 106,033,461 (GRCm39)		probably null	Het
Gm10382	G	A	5: 125,466,660 (GRCm39)		probably benign	Het
Hnmt	T	A	2: 23,904,281 (GRCm39)	M127L	probably benign	Het
Hoxc10	T	A	15: 102,879,265 (GRCm39)	W262R	probably damaging	Het
Icam5	T	A	9: 20,944,454 (GRCm39)	W52R	possibly damaging	Het
Jazf1	A	T	6: 52,754,537 (GRCm39)	C180S	probably damaging	Het
Kcnk2	A	G	1: 188,975,179 (GRCm39)	W286R	probably damaging	Het
Kcnmb2	C	T	3: 32,236,045 (GRCm39)	S98F	probably damaging	Het
Mob3a	C	G	10: 80,525,698 (GRCm39)	E204D	possibly damaging	Het
Morc3	C	G	16: 93,659,572 (GRCm39)	H459D	probably damaging	Het
Mroh2b	A	T	15: 4,964,126 (GRCm39)	N876I	probably benign	Het
Myo16	A	T	8: 10,420,930 (GRCm39)	T257S	probably damaging	Het
Nat1	A	T	8: 67,944,354 (GRCm39)	R243S	possibly damaging	Het
Nudt9	T	C	5: 104,194,955 (GRCm39)	V17A	probably benign	Het
Or13p8	A	G	4: 118,583,668 (GRCm39)	S75G	probably benign	Het
Or4c111	A	G	2: 88,843,970 (GRCm39)	I146T	probably benign	Het
Or4c11c	A	G	2: 88,661,707 (GRCm39)	D82G	probably benign	Het
Or4m1	A	G	14: 50,558,043 (GRCm39)	V83A	probably benign	Het
Or6c70	C	A	10: 129,710,546 (GRCm39)	V27L	probably benign	Het
Pcdh7	T	C	5: 57,878,704 (GRCm39)	L753P	probably damaging	Het
Pcf11	T	A	7: 92,295,710 (GRCm39)	E1446D	probably damaging	Het
Pepd	A	G	7: 34,721,176 (GRCm39)	I267V	probably benign	Het
Plk2	T	A	13: 110,536,008 (GRCm39)	Y571N	probably damaging	Het
Plk2	T	A	13: 110,536,568 (GRCm39)	V620E	probably damaging	Het
Prag1	T	C	8: 36,570,506 (GRCm39)	L363P	probably benign	Het
Psmd3	A	G	11: 98,584,479 (GRCm39)	T387A	probably damaging	Het
Ptgs1	G	A	2: 36,127,297 (GRCm39)	C61Y	probably damaging	Het
Rab18	T	C	18: 6,784,635 (GRCm39)	Y109H	probably benign	Het
Robo2	G	A	16: 73,779,027 (GRCm39)	P358L	probably damaging	Het
Smarcc2	C	T	10: 128,323,893 (GRCm39)		probably benign	Het
Spata31e4	G	A	13: 50,855,453 (GRCm39)	D364N	probably damaging	Het
Srgap1	A	G	10: 121,883,061 (GRCm39)	I13T	probably benign	Het
Tcf12	T	A	9: 71,851,298 (GRCm39)	K110*	probably null	Het
Tdrd1	T	C	19: 56,829,767 (GRCm39)	S214P	probably benign	Het
Tdrd3	T	A	14: 87,743,322 (GRCm39)	N417K	probably damaging	Het
Tmem255b	A	G	8: 13,504,216 (GRCm39)	Y136C	probably damaging	Het
Tnpo1	T	C	13: 99,000,337 (GRCm39)	I335M	probably damaging	Het
Vmn1r1	T	C	1: 181,985,186 (GRCm39)	T160A	probably damaging	Het
Vmn1r203	A	G	13: 22,708,899 (GRCm39)	N227D	possibly damaging	Het
Vmn2r6	T	A	3: 64,464,226 (GRCm39)	S203C	probably damaging	Het
Zfp628	A	G	7: 4,922,848 (GRCm39)	T357A	possibly damaging	Het
Zfp872	A	G	9: 22,111,180 (GRCm39)	K220E	probably damaging	Het

Other mutations in Tmem63c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Tmem63c	APN	12	87,123,980 (GRCm39)	missense	probably benign	0.05
IGL00837:Tmem63c	APN	12	87,123,971 (GRCm39)	missense	probably benign
IGL01317:Tmem63c	APN	12	87,118,770 (GRCm39)	splice site	probably benign
IGL01521:Tmem63c	APN	12	87,115,918 (GRCm39)	missense	probably damaging	0.99
IGL01955:Tmem63c	APN	12	87,123,982 (GRCm39)	missense	probably benign	0.00
IGL02007:Tmem63c	APN	12	87,119,647 (GRCm39)	missense	probably damaging	1.00
IGL02891:Tmem63c	APN	12	87,118,042 (GRCm39)	missense	probably benign	0.00
IGL03102:Tmem63c	APN	12	87,112,323 (GRCm39)	missense	probably benign	0.42
IGL03273:Tmem63c	APN	12	87,128,576 (GRCm39)	missense	probably damaging	1.00
R0238:Tmem63c	UTSW	12	87,122,413 (GRCm39)	missense	probably damaging	1.00
R0238:Tmem63c	UTSW	12	87,122,413 (GRCm39)	missense	probably damaging	1.00
R0239:Tmem63c	UTSW	12	87,122,413 (GRCm39)	missense	probably damaging	1.00
R0239:Tmem63c	UTSW	12	87,122,413 (GRCm39)	missense	probably damaging	1.00
R0975:Tmem63c	UTSW	12	87,121,843 (GRCm39)	splice site	probably benign
R2398:Tmem63c	UTSW	12	87,103,307 (GRCm39)	missense	probably damaging	1.00
R4416:Tmem63c	UTSW	12	87,128,676 (GRCm39)	missense	probably benign	0.14
R4721:Tmem63c	UTSW	12	87,103,954 (GRCm39)	missense	possibly damaging	0.70
R4881:Tmem63c	UTSW	12	87,133,192 (GRCm39)	missense	possibly damaging	0.67
R4888:Tmem63c	UTSW	12	87,136,139 (GRCm39)	missense	probably damaging	1.00
R5210:Tmem63c	UTSW	12	87,136,172 (GRCm39)	missense	probably benign	0.10
R5277:Tmem63c	UTSW	12	87,104,531 (GRCm39)	splice site	probably null
R5790:Tmem63c	UTSW	12	87,104,410 (GRCm39)	missense	probably benign	0.10
R5855:Tmem63c	UTSW	12	87,122,500 (GRCm39)	missense	probably damaging	1.00
R5940:Tmem63c	UTSW	12	87,121,946 (GRCm39)	missense	probably benign
R6000:Tmem63c	UTSW	12	87,103,971 (GRCm39)	missense	probably damaging	1.00
R6268:Tmem63c	UTSW	12	87,128,727 (GRCm39)	missense	probably damaging	1.00
R6749:Tmem63c	UTSW	12	87,122,439 (GRCm39)	missense	probably damaging	1.00
R7380:Tmem63c	UTSW	12	87,124,722 (GRCm39)	missense	probably benign	0.00
R7472:Tmem63c	UTSW	12	87,115,932 (GRCm39)	missense	possibly damaging	0.50
R8057:Tmem63c	UTSW	12	87,118,972 (GRCm39)	nonsense	probably null
R8184:Tmem63c	UTSW	12	87,108,328 (GRCm39)	missense	possibly damaging	0.93
R8350:Tmem63c	UTSW	12	87,119,660 (GRCm39)	missense	probably damaging	1.00
R8499:Tmem63c	UTSW	12	87,119,738 (GRCm39)	missense	probably damaging	1.00
R8750:Tmem63c	UTSW	12	87,103,306 (GRCm39)	missense	probably damaging	1.00
R9138:Tmem63c	UTSW	12	87,128,601 (GRCm39)	missense	probably damaging	1.00
R9566:Tmem63c	UTSW	12	87,108,305 (GRCm39)	missense	possibly damaging	0.88
R9617:Tmem63c	UTSW	12	87,103,361 (GRCm39)	missense	probably benign	0.36
R9779:Tmem63c	UTSW	12	87,104,419 (GRCm39)	missense	probably damaging	0.99
Z1176:Tmem63c	UTSW	12	87,103,259 (GRCm39)	missense	probably benign	0.01
Z1177:Tmem63c	UTSW	12	87,124,038 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTTATATCTGCCTCCTGAGCATAG -3'
(R):5'- CTCAAGTGCCAGGCAGAAAG -3'

Sequencing Primer
(F):5'- CCTCTAGCTAGGTGAACATCTGG -3'
(R):5'- CAAGTGCCAGGCAGAAAGGAAAG -3'

Posted On

2018-02-28