Mutagenetix > Incidental Mutation

Incidental Mutation 'R3434:Tmem117'

266365

Institutional Source

Beutler Lab

Gene Symbol

Tmem117

Ensembl Gene

ENSMUSG00000063296

Gene Name

transmembrane protein 117

Synonyms

MMRRC Submission

040652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R3434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94629232-95096098 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95094692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 411 (I411T)

Ref Sequence

ENSEMBL: ENSMUSP00000079038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080141] [ENSMUST00000229933]

AlphaFold

Q8BH18

Predicted Effect

probably damaging
Transcript: ENSMUST00000080141
AA Change: I411T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: I411T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189291

Predicted Effect

probably benign
Transcript: ENSMUST00000229933

Meta Mutation Damage Score

0.1689

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,289,537	A1008V	probably damaging	Het
Adora3	A	G	3: 105,904,915	K39R	probably benign	Het
Ankib1	A	G	5: 3,692,760	V1085A	probably damaging	Het
Atp7a	G	A	X: 106,094,857	R563K	probably benign	Het
Azin1	T	C	15: 38,493,576	I268V	probably benign	Het
Carm1	T	C	9: 21,569,473	F81S	probably damaging	Het
Ccnjl	A	G	11: 43,579,861	Y152C	probably damaging	Het
Chrna3	T	A	9: 55,024,326	I61F	possibly damaging	Het
Clca3a2	G	A	3: 144,808,761		probably benign	Het
Clstn2	T	A	9: 97,454,715	D903V	probably benign	Het
Dpysl3	C	T	18: 43,361,061	V70I	probably benign	Het
Drg2	A	T	11: 60,461,392	K180*	probably null	Het
Dync2h1	A	C	9: 7,011,236	H3659Q	probably benign	Het
Dysf	A	T	6: 84,070,888	Y349F	probably benign	Het
Epb41l4b	T	C	4: 57,040,865	N533D	probably benign	Het
Fam47e	T	A	5: 92,585,362	V152D	probably damaging	Het
Fasn	G	A	11: 120,822,773	A24V	probably damaging	Het
Fhl4	T	C	10: 85,098,444	T158A	probably benign	Het
Fnbp1l	C	T	3: 122,546,306	R499Q	probably damaging	Het
Hdlbp	A	T	1: 93,428,161	M358K	probably benign	Het
Ift74	A	G	4: 94,621,852		probably null	Het
Lhx4	A	G	1: 155,702,401	Y332H	probably damaging	Het
Mast2	A	T	4: 116,308,095	S1314T	probably benign	Het
Mast4	A	G	13: 102,787,379	I508T	probably damaging	Het
Mdn1	T	C	4: 32,733,726		probably null	Het
Mrps23	A	G	11: 88,210,114	K44E	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mup6	G	T	4: 60,004,116		probably null	Het
Notch3	A	T	17: 32,158,618	D161E	possibly damaging	Het
Olfr1131	T	C	2: 87,629,074	F204L	probably benign	Het
Olfr1200	T	C	2: 88,768,069	D82G	probably damaging	Het
Olfr695	A	T	7: 106,873,769	Y159N	probably benign	Het
P2rx4	T	A	5: 122,725,070	I202K	probably damaging	Het
Phykpl	A	G	11: 51,598,655	T363A	probably benign	Het
Pitpnm1	G	A	19: 4,112,234	A1047T	probably damaging	Het
Ppat	A	G	5: 76,918,065	I402T	probably damaging	Het
Rpgr	A	G	X: 10,176,602	S656P	probably benign	Het
Rsbn1l	T	C	5: 20,905,930		probably benign	Het
Sacs	A	G	14: 61,212,303	K3933E	probably damaging	Het
Scn7a	T	C	2: 66,675,503	I1681V	probably benign	Het
Sel1l3	T	C	5: 53,117,090	D1016G	probably benign	Het
Sf3a3	C	A	4: 124,725,077	T277N	possibly damaging	Het
Slc35a5	A	G	16: 45,144,033	I279T	probably benign	Het
Slc39a10	T	C	1: 46,835,717	T142A	probably benign	Het
Tle3	T	A	9: 61,414,094		probably null	Het
Ttn	T	C	2: 76,868,377	T5A	possibly damaging	Het
Tubgcp3	T	C	8: 12,658,381		probably null	Het
Ush2a	C	T	1: 188,733,758	P2841L	probably damaging	Het
Vmn1r209	A	T	13: 22,806,097	M141K	probably benign	Het
Vmn2r91	A	T	17: 18,110,108		probably benign	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
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
R5901:Tmem117	UTSW	15	94714958	missense	probably benign	0.08
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
R8205:Tmem117	UTSW	15	95094798	missense	probably benign
R8698:Tmem117	UTSW	15	94638109	missense	probably benign	0.17
R8719:Tmem117	UTSW	15	95094367	missense	probably damaging	1.00
R9581:Tmem117	UTSW	15	95094387	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GACAGTATATTGGCCCAGGG -3'
(R):5'- ACCAAGGCAGGGTCATTCAG -3'

Sequencing Primer
(F):5'- CCCAGGGCAGAAGATATACACAGTG -3'
(R):5'- GGTCATTCAGAGGATCTTCCACAG -3'

Posted On

2015-02-18