Mutagenetix > Incidental Mutations

Incidental Mutation 'R5901:Tmem117'

456345

Institutional Source

Beutler Lab

Gene Symbol

Tmem117

Ensembl Gene

ENSMUSG00000063296

Gene Name

transmembrane protein 117

Synonyms

MMRRC Submission

043239-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R5901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94629232-95096098 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94714958 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 125 (I125N)

Ref Sequence

ENSEMBL: ENSMUSP00000079038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080141]

Predicted Effect

probably benign
Transcript: ENSMUST00000080141
AA Change: I125N

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: I125N

Domain	Start	End	E-Value	Type
Pfam:TMEM117	4	416	1.1e-235	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229677

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	T	A	11: 99,837,337	S227C	unknown	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adamts15	C	T	9: 30,902,490	R793H	probably damaging	Het
Ankra2	A	G	13: 98,271,136	E38G	probably damaging	Het
Aqp8	G	A	7: 123,462,584	C8Y	probably damaging	Het
Atg9b	A	G	5: 24,392,019		probably benign	Het
Atp6v1b1	A	G	6: 83,758,357	E469G	possibly damaging	Het
B4gat1	T	A	19: 5,039,213	Y79*	probably null	Het
BB019430	T	A	10: 58,704,192		noncoding transcript	Het
Calhm3	T	C	19: 47,157,613	Y51C	probably damaging	Het
Ccr2	C	T	9: 124,106,202	T173I	possibly damaging	Het
Cfap43	T	C	19: 47,897,099	D359G	probably damaging	Het
Dopey2	A	G	16: 93,769,751	E1022G	possibly damaging	Het
Drd2	T	A	9: 49,406,959	C400*	probably null	Het
Efcab7	T	A	4: 99,909,744	H495Q	probably damaging	Het
Faim	T	C	9: 98,992,142	V29A	probably benign	Het
Fancd2	T	C	6: 113,549,365	S350P	probably damaging	Het
Fbxw16	T	C	9: 109,441,217	E152G	probably benign	Het
Kif17	T	C	4: 138,298,332		probably null	Het
Kif24	A	T	4: 41,428,604	S119T	probably damaging	Het
Ly6k	A	T	15: 74,798,580	S38T	probably benign	Het
Mapk10	A	G	5: 102,913,292	S430P	probably damaging	Het
Megf10	G	A	18: 57,277,108	A654T	probably benign	Het
Mlph	T	C	1: 90,939,814	L450P	probably damaging	Het
Otof	T	C	5: 30,374,979	D1603G	probably damaging	Het
Pdcd11	T	C	19: 47,128,332	S1580P	possibly damaging	Het
Rad54b	G	A	4: 11,595,919	R232H	possibly damaging	Het
Sar1b	C	T	11: 51,779,749	T40I	possibly damaging	Het
Scyl2	C	T	10: 89,660,262	S242N	probably benign	Het
Sema4b	A	G	7: 80,224,967	N702D	possibly damaging	Het
Slc16a11	A	G	11: 70,216,346	I394V	probably benign	Het
Stard9	A	C	2: 120,701,370	T2703P	probably damaging	Het
Stat5b	A	T	11: 100,804,907	L83Q	possibly damaging	Het
Tas2r119	T	A	15: 32,177,786	V166D	possibly damaging	Het
Tmem39a	T	C	16: 38,573,206	I89T	probably benign	Het
Ubr4	T	A	4: 139,451,254	H3272Q	probably damaging	Het
Vmn1r7	T	C	6: 57,024,606	E223G	probably damaging	Het
Vmn2r78	T	C	7: 86,954,588	V658A	probably damaging	Het
Xirp2	A	T	2: 67,513,066	T1884S	possibly damaging	Het
Xkr4	A	T	1: 3,216,678	F430I	probably damaging	Het
Yae1d1	A	G	13: 17,989,615	M1T	probably null	Het
Zfand4	T	C	6: 116,288,123	V183A	probably damaging	Het

Other mutations in Tmem117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Tmem117	APN	15	95094664	missense	probably benign
IGL02342:Tmem117	APN	15	95011450	missense	possibly damaging	0.76
IGL02418:Tmem117	APN	15	94931884	missense	probably benign	0.10
IGL02651:Tmem117	APN	15	95094561	missense	probably damaging	1.00
IGL02740:Tmem117	APN	15	94714982	missense	probably benign	0.00
IGL02819:Tmem117	APN	15	94879372	splice site	probably benign
IGL02881:Tmem117	APN	15	94879425	missense	probably damaging	1.00
IGL02887:Tmem117	APN	15	95094775	missense	probably damaging	1.00
IGL03371:Tmem117	APN	15	95011393	missense	probably damaging	1.00
R0464:Tmem117	UTSW	15	94714919	missense	probably damaging	0.98
R0539:Tmem117	UTSW	15	94714912	missense	possibly damaging	0.63
R1029:Tmem117	UTSW	15	95011336	missense	probably benign
R1424:Tmem117	UTSW	15	94931808	missense	probably benign	0.35
R1439:Tmem117	UTSW	15	95094597	missense	probably benign
R1498:Tmem117	UTSW	15	94638361	missense	probably damaging	1.00
R1604:Tmem117	UTSW	15	95094544	missense	probably damaging	1.00
R1746:Tmem117	UTSW	15	94931833	missense	possibly damaging	0.55
R1829:Tmem117	UTSW	15	95094551	missense	probably damaging	1.00
R3434:Tmem117	UTSW	15	95094692	missense	probably damaging	0.98
R3435:Tmem117	UTSW	15	95094692	missense	probably damaging	0.98
R4560:Tmem117	UTSW	15	95094796	missense	probably benign	0.00
R4561:Tmem117	UTSW	15	95094796	missense	probably benign	0.00
R4562:Tmem117	UTSW	15	95094796	missense	probably benign	0.00
R4563:Tmem117	UTSW	15	94638154	missense	possibly damaging	0.95
R4777:Tmem117	UTSW	15	95094450	nonsense	probably null
R4854:Tmem117	UTSW	15	95094688	missense	probably damaging	0.97
R5051:Tmem117	UTSW	15	94714913	missense	probably damaging	0.96
R5472:Tmem117	UTSW	15	95094513	missense	possibly damaging	0.91
R5485:Tmem117	UTSW	15	95094830	missense	probably benign	0.00
R5488:Tmem117	UTSW	15	95094817	frame shift	probably null
R5595:Tmem117	UTSW	15	95094884	missense	probably damaging	0.99
R5648:Tmem117	UTSW	15	95094772	missense	possibly damaging	0.88
R5892:Tmem117	UTSW	15	94638139	missense	probably damaging	0.99
R6334:Tmem117	UTSW	15	95011443	missense	probably benign	0.01
R7216:Tmem117	UTSW	15	94714912	missense	possibly damaging	0.91
R7266:Tmem117	UTSW	15	94931803	missense	possibly damaging	0.82
R7414:Tmem117	UTSW	15	94714895	missense	probably damaging	1.00
R7445:Tmem117	UTSW	15	94714918	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CCACTCTCTAGAGGAGTACTGG -3'
(R):5'- AAAGCGTCCCTATCTACGGC -3'

Sequencing Primer
(F):5'- AATGGCTTTTCCCAAAGGTACTC -3'
(R):5'- GCACCGTGTCTGCTAAGTAACATG -3'

Posted On

2017-02-15