Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02891:Tmem63c'

363173

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem63c

Ensembl Gene

ENSMUSG00000034145

Gene Name

transmembrane protein 63c

Synonyms

9330187M14Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL02891

Quality Score

Status

Chromosome

Chromosomal Location

87021340-87090043 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87071268 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 216 (F216L)

Ref Sequence

ENSEMBL: ENSMUSP00000119872 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110187
AA Change: F216L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105816
Gene: ENSMUSG00000034145
AA Change: F216L

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

noncoding transcript
Transcript: ENSMUST00000119807

Predicted Effect

probably benign
Transcript: ENSMUST00000131878
AA Change: F216L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117023
Gene: ENSMUSG00000034145
AA Change: F216L

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: F216L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119872
Gene: ENSMUSG00000034145
AA Change: F216L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	C	T	3: 108,464,392	R672Q	probably benign	Het
Abca17	A	G	17: 24,281,366	S1284P	probably damaging	Het
Adgrf1	T	C	17: 43,311,161	V763A	probably damaging	Het
Adhfe1	T	A	1: 9,558,171	M256K	probably benign	Het
Chit1	A	G	1: 134,145,310	S125G	probably benign	Het
Clu	T	A	14: 65,975,984	F273Y	probably damaging	Het
Dgki	T	C	6: 36,913,741	D869G	probably benign	Het
Emx1	T	C	6: 85,204,085		probably benign	Het
Ercc2	T	G	7: 19,393,286	F316C	probably damaging	Het
Fam81a	A	G	9: 70,110,276	L129P	probably damaging	Het
Fat4	T	A	3: 38,951,273	N1940K	probably damaging	Het
Fbxl13	G	A	5: 21,522,100		probably benign	Het
Kcnt2	T	A	1: 140,574,806	D879E	probably damaging	Het
Kti12	T	G	4: 108,848,533	S215A	probably benign	Het
Lama1	G	A	17: 67,804,536	G2261R	probably damaging	Het
Ntn5	G	T	7: 45,686,224	L26F	probably damaging	Het
Nwd2	A	G	5: 63,725,227	N74S	possibly damaging	Het
Olfr109	T	A	17: 37,466,944	V246E	probably damaging	Het
Olfr709-ps1	A	G	7: 106,927,081	V126A	probably damaging	Het
Phactr4	T	C	4: 132,387,023	D20G	probably damaging	Het
Ptpn23	G	A	9: 110,388,020	Q923*	probably null	Het
Rfx6	T	A	10: 51,723,846	S333T	possibly damaging	Het
Skint10	T	A	4: 112,728,826	I198F	probably benign	Het
Spata5	T	A	3: 37,426,192	V130D	probably damaging	Het
Taf3	G	A	2: 9,921,227	P647L	probably damaging	Het
Tbcb	T	C	7: 30,233,434		probably benign	Het
Ttc30b	C	T	2: 75,937,060	V450M	possibly damaging	Het
Uba5	A	G	9: 104,054,193		probably benign	Het
Usp34	C	A	11: 23,487,166	Q217K	probably benign	Het
Vmn1r202	G	A	13: 22,501,470	T259I	probably benign	Het
Vmn2r99	G	A	17: 19,378,690	W212*	probably null	Het
Zfp687	G	T	3: 95,011,946	P172T	probably damaging	Het

Other mutations in Tmem63c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Tmem63c	APN	12	87077206	missense	probably benign	0.05
IGL00837:Tmem63c	APN	12	87077197	missense	probably benign
IGL01317:Tmem63c	APN	12	87071996	splice site	probably benign
IGL01521:Tmem63c	APN	12	87069144	missense	probably damaging	0.99
IGL01955:Tmem63c	APN	12	87077208	missense	probably benign	0.00
IGL02007:Tmem63c	APN	12	87072873	missense	probably damaging	1.00
IGL03102:Tmem63c	APN	12	87065549	missense	probably benign	0.42
IGL03273:Tmem63c	APN	12	87081802	missense	probably damaging	1.00
R0238:Tmem63c	UTSW	12	87075639	missense	probably damaging	1.00
R0238:Tmem63c	UTSW	12	87075639	missense	probably damaging	1.00
R0239:Tmem63c	UTSW	12	87075639	missense	probably damaging	1.00
R0239:Tmem63c	UTSW	12	87075639	missense	probably damaging	1.00
R0975:Tmem63c	UTSW	12	87075069	splice site	probably benign
R2398:Tmem63c	UTSW	12	87056533	missense	probably damaging	1.00
R4416:Tmem63c	UTSW	12	87081902	missense	probably benign	0.14
R4721:Tmem63c	UTSW	12	87057180	missense	possibly damaging	0.70
R4881:Tmem63c	UTSW	12	87086418	missense	possibly damaging	0.67
R4888:Tmem63c	UTSW	12	87089365	missense	probably damaging	1.00
R5210:Tmem63c	UTSW	12	87089398	missense	probably benign	0.10
R5277:Tmem63c	UTSW	12	87057757	unclassified	probably null
R5790:Tmem63c	UTSW	12	87057636	missense	probably benign	0.10
R5855:Tmem63c	UTSW	12	87075726	missense	probably damaging	1.00
R5940:Tmem63c	UTSW	12	87075172	missense	probably benign
R6000:Tmem63c	UTSW	12	87057197	missense	probably damaging	1.00
R6240:Tmem63c	UTSW	12	87076405	missense	possibly damaging	0.67
R6268:Tmem63c	UTSW	12	87081953	missense	probably damaging	1.00
R6749:Tmem63c	UTSW	12	87075665	missense	probably damaging	1.00
R7380:Tmem63c	UTSW	12	87077948	missense	probably benign	0.00
R7472:Tmem63c	UTSW	12	87069158	missense	possibly damaging	0.50

Posted On

2015-12-18