Mutagenetix > Incidental Mutation

Incidental Mutation 'R6334:Tmem117'

510724

Institutional Source

Beutler Lab

Gene Symbol

Tmem117

Ensembl Gene

ENSMUSG00000063296

Gene Name

transmembrane protein 117

Synonyms

B930062P21Rik

MMRRC Submission

044488-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R6334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94527113-94993979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 94909324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 246 (I246L)

Ref Sequence

ENSEMBL: ENSMUSP00000079038 (fasta)

Gene Model

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

AlphaFold

Q8BH18

Predicted Effect

probably benign
Transcript: ENSMUST00000080141
AA Change: I246L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: I246L

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

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,770,940 (GRCm39)	S141T	probably benign	Het
Afap1l2	A	G	19: 56,906,408 (GRCm39)		probably null	Het
Aox1	C	T	1: 58,346,566 (GRCm39)	Q567*	probably null	Het
Aqp4	T	A	18: 15,526,648 (GRCm39)	M278L	probably benign	Het
Atp23	A	C	10: 126,723,538 (GRCm39)	L188R	probably benign	Het
Catsperg1	C	T	7: 28,905,782 (GRCm39)	G215D	probably benign	Het
Cavin4	T	C	4: 48,663,824 (GRCm39)	V68A	possibly damaging	Het
Ccl4	T	C	11: 83,553,504 (GRCm39)	S6P	unknown	Het
Cfap46	T	C	7: 139,260,747 (GRCm39)	E117G	probably damaging	Het
Cfhr4	A	G	1: 139,701,662 (GRCm39)		probably null	Het
Chek1	A	G	9: 36,625,788 (GRCm39)	S286P	possibly damaging	Het
Cntn4	G	A	6: 106,321,747 (GRCm39)	V35I	probably benign	Het
Cntn4	C	A	6: 106,483,153 (GRCm39)	P236Q	probably benign	Het
Cyp2d40	C	A	15: 82,645,753 (GRCm39)	G84V	probably benign	Het
Dnah12	A	T	14: 26,427,989 (GRCm39)	H205L	possibly damaging	Het
Dock1	G	A	7: 134,453,305 (GRCm39)	V845I	probably benign	Het
Drg1	T	C	11: 3,216,292 (GRCm39)	K7E	possibly damaging	Het
Eloa	G	A	4: 135,737,133 (GRCm39)	P488S	probably damaging	Het
Evi5	G	A	5: 107,968,387 (GRCm39)	R187*	probably null	Het
Fam53a	T	A	5: 33,758,219 (GRCm39)	L301F	probably damaging	Het
Fmnl3	T	C	15: 99,235,534 (GRCm39)	K63E	probably damaging	Het
Gast	C	A	11: 100,227,438 (GRCm39)	Q44K	probably benign	Het
Gng10	T	A	4: 59,035,257 (GRCm39)	V7E	probably benign	Het
Gtf3c5	G	A	2: 28,460,474 (GRCm39)	T375I	probably benign	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hspa14	A	T	2: 3,490,109 (GRCm39)		probably null	Het
Kcna3	T	C	3: 106,943,740 (GRCm39)	M1T	probably null	Het
Kcnj15	T	G	16: 95,097,095 (GRCm39)	L239R	probably damaging	Het
Klhl2	G	T	8: 65,212,842 (GRCm39)	D232E	probably benign	Het
Lamb3	A	T	1: 193,017,782 (GRCm39)	I888F	probably damaging	Het
Lars1	C	A	18: 42,350,551 (GRCm39)	M919I	probably benign	Het
Lfng	T	C	5: 140,598,522 (GRCm39)	V247A	possibly damaging	Het
Lrp1b	C	T	2: 41,679,045 (GRCm39)	A16T	probably benign	Het
Mamdc2	A	T	19: 23,341,270 (GRCm39)	I235N	probably damaging	Het
Map9	T	A	3: 82,290,612 (GRCm39)	L492Q	probably damaging	Het
Mcpt8	A	G	14: 56,322,604 (GRCm39)	V14A	possibly damaging	Het
Myo1b	T	C	1: 51,807,810 (GRCm39)	K823R	probably null	Het
Nbea	G	T	3: 55,944,570 (GRCm39)	T598K	probably damaging	Het
Nrcam	C	A	12: 44,619,083 (GRCm39)	H877N	probably benign	Het
Nrxn2	T	C	19: 6,581,322 (GRCm39)		probably null	Het
Nwd2	A	T	5: 63,957,596 (GRCm39)	I309F	possibly damaging	Het
Phyhd1	G	A	2: 30,164,736 (GRCm39)		probably null	Het
Pkp2	C	T	16: 16,043,933 (GRCm39)	T229I	probably damaging	Het
Plagl2	G	A	2: 153,074,611 (GRCm39)	P97S	probably benign	Het
Plekhh2	C	A	17: 84,874,294 (GRCm39)	N526K	probably benign	Het
Plin4	A	G	17: 56,410,261 (GRCm39)	L1217P	probably benign	Het
Polr3e	T	C	7: 120,527,222 (GRCm39)	S67P	possibly damaging	Het
Postn	A	G	3: 54,292,703 (GRCm39)	K757E	probably benign	Het
Prpf39	T	A	12: 65,089,587 (GRCm39)		probably null	Het
Ptprg	C	T	14: 12,166,832 (GRCm38)	T745I	probably damaging	Het
Pxylp1	C	G	9: 96,707,307 (GRCm39)	A292P	probably damaging	Het
Rpl35	G	T	2: 38,891,754 (GRCm39)	D82E	possibly damaging	Het
Slc9a1	G	A	4: 133,149,519 (GRCm39)	V782I	possibly damaging	Het
Syn2	T	A	6: 115,240,875 (GRCm39)	M415K	possibly damaging	Het
Tmem221	A	T	8: 72,011,428 (GRCm39)	V9E	probably damaging	Het
Trav13-5	A	G	14: 54,033,399 (GRCm39)	T103A	probably damaging	Het
Ubxn7	T	A	16: 32,191,007 (GRCm39)		probably null	Het
Vmn2r101	G	T	17: 19,810,112 (GRCm39)	M299I	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,344 (GRCm39)	S379T	probably damaging	Het
Vmn2r109	T	C	17: 20,761,440 (GRCm39)	N639S	probably benign	Het
Wdr26	T	C	1: 181,030,771 (GRCm39)			Het
Zfp109	T	A	7: 23,928,308 (GRCm39)	Y367F	probably damaging	Het
Zfp143	G	A	7: 109,685,338 (GRCm39)	C389Y	probably damaging	Het
Zfp553	G	T	7: 126,836,064 (GRCm39)		probably null	Het

Other mutations in Tmem117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Tmem117	APN	15	94,992,545 (GRCm39)	missense	probably benign
IGL02342:Tmem117	APN	15	94,909,331 (GRCm39)	missense	possibly damaging	0.76
IGL02418:Tmem117	APN	15	94,829,765 (GRCm39)	missense	probably benign	0.10
IGL02651:Tmem117	APN	15	94,992,442 (GRCm39)	missense	probably damaging	1.00
IGL02740:Tmem117	APN	15	94,612,863 (GRCm39)	missense	probably benign	0.00
IGL02819:Tmem117	APN	15	94,777,253 (GRCm39)	splice site	probably benign
IGL02881:Tmem117	APN	15	94,777,306 (GRCm39)	missense	probably damaging	1.00
IGL02887:Tmem117	APN	15	94,992,656 (GRCm39)	missense	probably damaging	1.00
IGL03371:Tmem117	APN	15	94,909,274 (GRCm39)	missense	probably damaging	1.00
R0464:Tmem117	UTSW	15	94,612,800 (GRCm39)	missense	probably damaging	0.98
R0539:Tmem117	UTSW	15	94,612,793 (GRCm39)	missense	possibly damaging	0.63
R1029:Tmem117	UTSW	15	94,909,217 (GRCm39)	missense	probably benign
R1424:Tmem117	UTSW	15	94,829,689 (GRCm39)	missense	probably benign	0.35
R1439:Tmem117	UTSW	15	94,992,478 (GRCm39)	missense	probably benign
R1498:Tmem117	UTSW	15	94,536,242 (GRCm39)	missense	probably damaging	1.00
R1604:Tmem117	UTSW	15	94,992,425 (GRCm39)	missense	probably damaging	1.00
R1746:Tmem117	UTSW	15	94,829,714 (GRCm39)	missense	possibly damaging	0.55
R1829:Tmem117	UTSW	15	94,992,432 (GRCm39)	missense	probably damaging	1.00
R3434:Tmem117	UTSW	15	94,992,573 (GRCm39)	missense	probably damaging	0.98
R3435:Tmem117	UTSW	15	94,992,573 (GRCm39)	missense	probably damaging	0.98
R4560:Tmem117	UTSW	15	94,992,677 (GRCm39)	missense	probably benign	0.00
R4561:Tmem117	UTSW	15	94,992,677 (GRCm39)	missense	probably benign	0.00
R4562:Tmem117	UTSW	15	94,992,677 (GRCm39)	missense	probably benign	0.00
R4563:Tmem117	UTSW	15	94,536,035 (GRCm39)	missense	possibly damaging	0.95
R4777:Tmem117	UTSW	15	94,992,331 (GRCm39)	nonsense	probably null
R4854:Tmem117	UTSW	15	94,992,569 (GRCm39)	missense	probably damaging	0.97
R5051:Tmem117	UTSW	15	94,612,794 (GRCm39)	missense	probably damaging	0.96
R5472:Tmem117	UTSW	15	94,992,394 (GRCm39)	missense	possibly damaging	0.91
R5485:Tmem117	UTSW	15	94,992,711 (GRCm39)	missense	probably benign	0.00
R5488:Tmem117	UTSW	15	94,992,698 (GRCm39)	frame shift	probably null
R5595:Tmem117	UTSW	15	94,992,765 (GRCm39)	missense	probably damaging	0.99
R5648:Tmem117	UTSW	15	94,992,653 (GRCm39)	missense	possibly damaging	0.88
R5892:Tmem117	UTSW	15	94,536,020 (GRCm39)	missense	probably damaging	0.99
R5901:Tmem117	UTSW	15	94,612,839 (GRCm39)	missense	probably benign	0.08
R7216:Tmem117	UTSW	15	94,612,793 (GRCm39)	missense	possibly damaging	0.91
R7266:Tmem117	UTSW	15	94,829,684 (GRCm39)	missense	possibly damaging	0.82
R7414:Tmem117	UTSW	15	94,612,776 (GRCm39)	missense	probably damaging	1.00
R7445:Tmem117	UTSW	15	94,612,799 (GRCm39)	missense	probably benign	0.05
R8205:Tmem117	UTSW	15	94,992,679 (GRCm39)	missense	probably benign
R8698:Tmem117	UTSW	15	94,535,990 (GRCm39)	missense	probably benign	0.17
R8719:Tmem117	UTSW	15	94,992,248 (GRCm39)	missense	probably damaging	1.00
R9581:Tmem117	UTSW	15	94,992,268 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CATCCTTTGGAGACTGTACTTTGG -3'
(R):5'- TCTGCCCAGGAAACTTACAG -3'

Sequencing Primer
(F):5'- CATTAGTGGAGCCTAGAAGCC -3'
(R):5'- TCTGCCCAGGAAACTTACAGAGAAAC -3'

Posted On

2018-04-02