Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00730:Tmem63c'

14502

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem63c

Ensembl Gene

ENSMUSG00000034145

Gene Name

transmembrane protein 63c

Synonyms

9330187M14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL00730

Quality Score

Status

Chromosome

Chromosomal Location

87068114-87136817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87123980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 486 (L486Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119872 (fasta)

Gene Model

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

AlphaFold

Q8CBX0

Predicted Effect

probably benign
Transcript: ENSMUST00000110187
AA Change: L486Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105816
Gene: ENSMUSG00000034145
AA Change: L486Q

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

probably benign
Transcript: ENSMUST00000131878
AA Change: L486Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117023
Gene: ENSMUSG00000034145
AA Change: L486Q

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

probably benign
Transcript: ENSMUST00000146292
AA Change: L486Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000119872
Gene: ENSMUSG00000034145
AA Change: L486Q

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	A	T	18: 80,171,247 (GRCm39)	I1054N	probably benign	Het
Carf	C	T	1: 60,186,577 (GRCm39)	Q511*	probably null	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Dnaaf5	G	T	5: 139,137,423 (GRCm39)		probably null	Het
Gen1	T	C	12: 11,311,068 (GRCm39)	N55D	probably damaging	Het
Gsdmc4	T	A	15: 63,769,653 (GRCm39)	R190W	probably damaging	Het
Hsd3b5	A	T	3: 98,537,373 (GRCm39)	S48T	probably benign	Het
Lactb2	T	G	1: 13,717,740 (GRCm39)		probably benign	Het
Pdzk1	A	G	3: 96,775,742 (GRCm39)	D370G	probably benign	Het
Qtrt1	G	T	9: 21,330,845 (GRCm39)		probably null	Het
Taf7l2	A	C	10: 115,948,931 (GRCm39)	D198E	probably benign	Het
Top2b	A	G	14: 16,389,831 (GRCm38)	Y223C	probably damaging	Het
Trpm2	T	C	10: 77,778,749 (GRCm39)		probably null	Het

Other mutations in Tmem63c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6240:Tmem63c	UTSW	12	87,123,179 (GRCm39)	missense	possibly damaging	0.67
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

Posted On

2012-12-06