Mutagenetix > Incidental Mutations

Incidental Mutation 'R5277:Tmem63c'

478301

Institutional Source

Beutler Lab

Gene Symbol

Tmem63c

Ensembl Gene

ENSMUSG00000034145

Gene Name

transmembrane protein 63c

Synonyms

9330187M14Rik

MMRRC Submission

042864-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R5277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87021340-87090043 bp(+) (GRCm38)

Type of Mutation

splice site (87 bp from exon)

DNA Base Change (assembly)

T to A at 87057757 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110187] [ENSMUST00000131878] [ENSMUST00000146292] [ENSMUST00000154801] [ENSMUST00000156162]

Predicted Effect

probably benign
Transcript: ENSMUST00000110187

SMART Domains

Protein: ENSMUSP00000105816
Gene: ENSMUSG00000034145

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

SMART Domains

Protein: ENSMUSP00000117023
Gene: ENSMUSG00000034145

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

SMART Domains

Protein: ENSMUSP00000119872
Gene: ENSMUSG00000034145

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

probably null
Transcript: ENSMUST00000156162

SMART Domains

Protein: ENSMUSP00000122346
Gene: ENSMUSG00000034145

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,994,648	T54A	probably damaging	Het
Ablim1	T	C	19: 57,155,261	R89G	probably damaging	Het
Bco1	T	A	8: 117,117,389		probably null	Het
Bhmt	A	T	13: 93,624,885	M185K	possibly damaging	Het
Camk2d	T	C	3: 126,684,741		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Dcaf6	A	G	1: 165,424,346	S70P	probably benign	Het
Dclre1a	C	T	19: 56,544,732	V477I	possibly damaging	Het
Dnah10	C	T	5: 124,828,137	P4021L	probably damaging	Het
Dusp10	A	G	1: 184,037,007	N57D	possibly damaging	Het
Fam13b	G	A	18: 34,462,190	R374C	probably benign	Het
Fyb2	G	A	4: 105,015,679	D686N	probably damaging	Het
Glra3	G	A	8: 55,991,207	M67I	possibly damaging	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm6180	A	G	8: 42,247,140		noncoding transcript	Het
Grin2c	A	G	11: 115,253,813	V629A	probably damaging	Het
Kif4-ps	A	T	12: 101,145,927		noncoding transcript	Het
Mc3r	T	C	2: 172,249,787	F310L	probably damaging	Het
Myh4	A	G	11: 67,252,354	D1036G	probably damaging	Het
Myh6	A	G	14: 54,956,562	I790T	probably benign	Het
Myo15	C	A	11: 60,477,114	Y233*	probably null	Het
Nckap5	A	T	1: 126,026,540	C758*	probably null	Het
Neurog3	T	A	10: 62,133,853	Y36N	probably damaging	Het
Nlrp4e	T	C	7: 23,321,438	L450P	probably benign	Het
Olfr607	A	T	7: 103,460,941	L84H	probably damaging	Het
Otog	A	G	7: 46,246,621	E170G	possibly damaging	Het
Ppp2r2b	G	T	18: 42,741,142	T41K	probably damaging	Het
Prmt5	A	T	14: 54,509,942	D459E	probably benign	Het
Ric8b	G	A	10: 84,947,652	V125M	probably damaging	Het
Rptor	A	G	11: 119,822,956	S4G	probably damaging	Het
Rslcan18	T	G	13: 67,098,434	E371D	probably benign	Het
Scaf11	A	T	15: 96,419,226	F819Y	probably damaging	Het
Sema6a	A	T	18: 47,276,544		probably benign	Het
Snx29	C	T	16: 11,399,824	T163I	possibly damaging	Het
Sphkap	T	C	1: 83,276,164	N1288S	probably benign	Het
Tmbim7	G	A	5: 3,673,192		probably null	Het
Tmem69	A	G	4: 116,553,261	F171L	probably benign	Het
Urod	A	T	4: 116,990,285		probably benign	Het
Vmn1r37	A	T	6: 66,731,476	I29L	probably benign	Het
Vmn2r102	A	G	17: 19,694,131	T653A	possibly damaging	Het
Vmn2r75	A	C	7: 86,166,292	S121R	probably benign	Het
Vwde	T	C	6: 13,186,996	T831A	probably benign	Het
Wdr70	C	T	15: 7,976,984	W362*	probably null	Het
Zfat	A	G	15: 68,165,909	C906R	probably damaging	Het
Zfp7	T	C	15: 76,881,203	V32A	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
IGL02891:Tmem63c	APN	12	87071268	missense	probably benign	0.00
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
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
R8057:Tmem63c	UTSW	12	87072198	nonsense	probably null
R8184:Tmem63c	UTSW	12	87061554	missense	possibly damaging	0.93
Z1176:Tmem63c	UTSW	12	87056485	missense	probably benign	0.01
Z1177:Tmem63c	UTSW	12	87077264	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CACCTAGAGAACCTATAGGGAGC -3'
(R):5'- GCAACGTCAGAAGTCCACAG -3'

Sequencing Primer
(F):5'- AGGTGCCTGAGAACCTAGTCTCTC -3'
(R):5'- GCAACGTCAGAAGTCCACAGAAAAG -3'

Posted On

2017-06-21