Mutagenetix > Incidental Mutation

Incidental Mutation 'R6848:Tmem163'

534839

Institutional Source

Beutler Lab

Gene Symbol

Tmem163

Ensembl Gene

ENSMUSG00000026347

Gene Name

transmembrane protein 163

Synonyms

2610024A01Rik, SV31

MMRRC Submission

045022-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R6848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127418079-127605758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127479117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 134 (V134D)

Ref Sequence

ENSEMBL: ENSMUSP00000140828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027585] [ENSMUST00000160616] [ENSMUST00000185560]

AlphaFold

Q8C996

Predicted Effect

probably damaging
Transcript: ENSMUST00000027585
AA Change: V134D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027585
Gene: ENSMUSG00000026347
AA Change: V134D

Domain	Start	End	E-Value	Type
low complexity region	6	42	N/A	INTRINSIC
transmembrane domain	89	111	N/A	INTRINSIC
transmembrane domain	116	138	N/A	INTRINSIC
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC
transmembrane domain	223	242	N/A	INTRINSIC
transmembrane domain	246	268	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160616
AA Change: V134D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124307
Gene: ENSMUSG00000026347
AA Change: V134D

Domain	Start	End	E-Value	Type
low complexity region	6	42	N/A	INTRINSIC
transmembrane domain	89	111	N/A	INTRINSIC
transmembrane domain	116	138	N/A	INTRINSIC
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC
transmembrane domain	223	242	N/A	INTRINSIC
transmembrane domain	246	268	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185560
AA Change: V134D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140828
Gene: ENSMUSG00000026347
AA Change: V134D

Domain	Start	End	E-Value	Type
low complexity region	6	42	N/A	INTRINSIC
transmembrane domain	89	111	N/A	INTRINSIC
transmembrane domain	116	138	N/A	INTRINSIC
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC
transmembrane domain	223	242	N/A	INTRINSIC
transmembrane domain	246	268	N/A	INTRINSIC

Meta Mutation Damage Score

0.5120

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (54/55)

MGI Phenotype

PHENOTYPE: This transgene is useful in conjunction during breeding with mice carrying floxed alleles to produce germline excision of specific loxP-flanked sequences. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,775,487 (GRCm39)	N290S	probably damaging	Het
Acox3	G	T	5: 35,749,528 (GRCm39)	G218C	probably damaging	Het
Acsf3	G	A	8: 123,517,329 (GRCm39)	G375D	probably damaging	Het
Adamts9	G	T	6: 92,840,335 (GRCm39)	N568K	possibly damaging	Het
Akr1cl	G	A	1: 65,063,928 (GRCm39)	T87I	probably damaging	Het
Brcc3dc	A	T	10: 108,535,451 (GRCm39)	V168E	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Casp16	A	T	17: 23,770,053 (GRCm39)	C175*	probably null	Het
Cast	T	C	13: 74,844,052 (GRCm39)	K694R	possibly damaging	Het
Cep70	G	A	9: 99,144,954 (GRCm39)	R100H	probably benign	Het
Cep72	C	T	13: 74,186,395 (GRCm39)	A259T	possibly damaging	Het
Chsy1	T	A	7: 65,820,785 (GRCm39)	M340K	probably damaging	Het
Col27a1	T	C	4: 63,220,608 (GRCm39)	S182P	probably benign	Het
Crlf2	A	C	5: 109,704,897 (GRCm39)	F103V	possibly damaging	Het
Dync2h1	T	C	9: 7,159,632 (GRCm39)	N652S	probably benign	Het
Ephx4	G	A	5: 107,574,784 (GRCm39)	G274D	probably damaging	Het
Fer	T	A	17: 64,298,601 (GRCm39)	F517I	probably damaging	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gata3	T	A	2: 9,863,339 (GRCm39)	N392Y	possibly damaging	Het
Gria4	C	T	9: 4,793,822 (GRCm39)	V79M	probably damaging	Het
Grk3	A	C	5: 113,133,641 (GRCm39)	N60K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igf1r	T	G	7: 67,653,927 (GRCm39)	I155R	probably damaging	Het
Igsf9	T	C	1: 172,323,329 (GRCm39)	L681P	probably damaging	Het
Intu	T	C	3: 40,648,685 (GRCm39)	M789T	probably benign	Het
Kit	A	T	5: 75,767,872 (GRCm39)	Q85L	probably benign	Het
Klhdc2	T	A	12: 69,355,750 (GRCm39)	C325*	probably null	Het
Mcidas	A	G	13: 113,130,419 (GRCm39)	E5G	probably benign	Het
Mcm5	G	T	8: 75,853,918 (GRCm39)	R724L	possibly damaging	Het
Nrbp2	G	A	15: 75,963,332 (GRCm39)		probably benign	Het
Nrg1	A	G	8: 32,308,084 (GRCm39)	I655T	probably damaging	Het
Nsun4	T	C	4: 115,910,131 (GRCm39)	D143G	possibly damaging	Het
Opn3	C	T	1: 175,490,615 (GRCm39)	V349M	probably damaging	Het
Or51ag1	A	G	7: 103,155,664 (GRCm39)	V163A	possibly damaging	Het
Or5d47	A	T	2: 87,804,514 (GRCm39)	V165E	possibly damaging	Het
Or6d14	T	C	6: 116,533,736 (GRCm39)	S117P	probably damaging	Het
Pank2	C	A	2: 131,124,546 (GRCm39)	L297I	probably damaging	Het
Pcdh20	T	A	14: 88,704,690 (GRCm39)	E870V	probably benign	Het
Pdcd6	T	A	13: 74,457,959 (GRCm39)	M71L	possibly damaging	Het
Phkb	A	T	8: 86,756,246 (GRCm39)	I847F	probably damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Pwp2	C	G	10: 78,020,127 (GRCm39)		probably null	Het
Rbms3	A	G	9: 117,080,809 (GRCm39)	Y21H	probably damaging	Het
Rhbdl1	T	A	17: 26,055,158 (GRCm39)	K17*	probably null	Het
Rp1l1	C	A	14: 64,265,667 (GRCm39)	Q418K	possibly damaging	Het
Scpppq1	A	G	5: 104,222,603 (GRCm39)		probably benign	Het
Slc22a4	A	T	11: 53,898,615 (GRCm39)	V159E	possibly damaging	Het
Spata31d1a	T	C	13: 59,849,777 (GRCm39)	T784A	possibly damaging	Het
Tll1	A	G	8: 64,551,544 (GRCm39)	M279T	probably damaging	Het
Top2b	A	G	14: 16,409,958 (GRCm38)	N875S	possibly damaging	Het
Tpd52l1	T	C	10: 31,208,853 (GRCm39)	E205G	probably benign	Het
Tpsb2	T	A	17: 25,586,802 (GRCm39)	Y271*	probably null	Het
Ugt3a1	G	A	15: 9,280,138 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,801,840 (GRCm39)	M154V	probably benign	Het
Zfp740	T	G	15: 102,117,243 (GRCm39)	I89S	probably benign	Het

Other mutations in Tmem163

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01747:Tmem163	APN	1	127,596,457 (GRCm39)	missense	probably damaging	1.00
IGL02850:Tmem163	APN	1	127,427,984 (GRCm39)	missense	probably benign	0.00
R0201:Tmem163	UTSW	1	127,596,374 (GRCm39)	splice site	probably benign
R1723:Tmem163	UTSW	1	127,479,108 (GRCm39)	missense	probably damaging	1.00
R1834:Tmem163	UTSW	1	127,605,246 (GRCm39)	missense	probably benign	0.03
R1836:Tmem163	UTSW	1	127,605,246 (GRCm39)	missense	probably benign	0.03
R2289:Tmem163	UTSW	1	127,423,477 (GRCm39)	missense	possibly damaging	0.61
R4907:Tmem163	UTSW	1	127,447,107 (GRCm39)	missense	probably damaging	1.00
R4912:Tmem163	UTSW	1	127,419,362 (GRCm39)	missense	probably damaging	1.00
R5076:Tmem163	UTSW	1	127,428,013 (GRCm39)	missense	probably damaging	1.00
R5240:Tmem163	UTSW	1	127,419,289 (GRCm39)	utr 3 prime	probably benign
R5270:Tmem163	UTSW	1	127,419,289 (GRCm39)	utr 3 prime	probably benign
R5271:Tmem163	UTSW	1	127,419,289 (GRCm39)	utr 3 prime	probably benign
R5366:Tmem163	UTSW	1	127,428,042 (GRCm39)	splice site	probably benign
R5617:Tmem163	UTSW	1	127,479,067 (GRCm39)	missense	possibly damaging	0.89
R5928:Tmem163	UTSW	1	127,419,383 (GRCm39)	missense	probably damaging	0.99
R6115:Tmem163	UTSW	1	127,605,185 (GRCm39)	missense	possibly damaging	0.63
R6146:Tmem163	UTSW	1	127,447,126 (GRCm39)	missense	probably benign	0.01
R6316:Tmem163	UTSW	1	127,479,102 (GRCm39)	missense	probably benign	0.01
R6472:Tmem163	UTSW	1	127,423,471 (GRCm39)	missense	probably benign	0.09
R6604:Tmem163	UTSW	1	127,419,347 (GRCm39)	missense	possibly damaging	0.61
R6765:Tmem163	UTSW	1	127,479,078 (GRCm39)	missense	probably damaging	1.00
R7387:Tmem163	UTSW	1	127,447,180 (GRCm39)	critical splice acceptor site	probably null
R7737:Tmem163	UTSW	1	127,419,347 (GRCm39)	missense	possibly damaging	0.61
R9502:Tmem163	UTSW	1	127,480,529 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGACCTGTCTCATGGCTGAC -3'
(R):5'- CATGGAGTTCATAGTGGCTGCAAG -3'

Sequencing Primer
(F):5'- TCTCATGGCTGACAGGGCAC -3'
(R):5'- GAAGCATGCAGAAATGTACTCACTC -3'

Posted On

2018-09-12