Mutagenetix > Incidental Mutation

Incidental Mutation 'R7266:Tmem117'

564958

Institutional Source

Beutler Lab

Gene Symbol

Tmem117

Ensembl Gene

ENSMUSG00000063296

Gene Name

transmembrane protein 117

Synonyms

B930062P21Rik

MMRRC Submission

045389-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R7266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94527113-94993979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94829684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 173 (D173G)

Ref Sequence

ENSEMBL: ENSMUSP00000079038 (fasta)

Gene Model

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

AlphaFold

Q8BH18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080141
AA Change: D173G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: D173G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,157,639 (GRCm39)	I104F	probably benign	Het
Adgrg7	C	T	16: 56,590,674 (GRCm39)	V166I	probably benign	Het
Agfg1	G	T	1: 82,859,966 (GRCm39)	V278L	probably benign	Het
Alpk3	A	G	7: 80,742,328 (GRCm39)	E715G	possibly damaging	Het
Ap2m1	A	G	16: 20,362,095 (GRCm39)	Y401C	probably damaging	Het
Arhgef28	C	T	13: 98,101,960 (GRCm39)	S838N	probably benign	Het
Ash2l	A	T	8: 26,317,233 (GRCm39)	Y373*	probably null	Het
Best2	C	T	8: 85,734,393 (GRCm39)	V442I	probably benign	Het
Col4a2	T	C	8: 11,475,542 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,175,856 (GRCm39)	D1619V	probably damaging	Het
Fer1l6	A	T	15: 58,499,446 (GRCm39)	N1272I	probably benign	Het
Gcc1	T	A	6: 28,417,995 (GRCm39)	*779C	probably null	Het
Gm12216	G	A	11: 53,750,077 (GRCm39)		probably benign	Het
Grm2	C	T	9: 106,524,370 (GRCm39)	V311I		Het
Immt	T	A	6: 71,851,689 (GRCm39)	D683E	probably benign	Het
Itga8	T	G	2: 12,237,712 (GRCm39)	D336A	probably damaging	Het
Jhy	T	C	9: 40,872,453 (GRCm39)	T19A	probably benign	Het
Kcnq2	T	C	2: 180,776,885 (GRCm39)	M1V	probably null	Het
Kctd17	A	T	15: 78,317,214 (GRCm39)	I117F	probably damaging	Het
Lrp6	T	C	6: 134,484,364 (GRCm39)	T420A	probably damaging	Het
Manba	T	C	3: 135,223,673 (GRCm39)	S187P	probably damaging	Het
Mef2b	A	T	8: 70,616,938 (GRCm39)	D13V	probably damaging	Het
Mical2	T	C	7: 111,902,963 (GRCm39)	F145L	probably damaging	Het
Mphosph8	T	A	14: 56,922,497 (GRCm39)	D551E	possibly damaging	Het
Mplkipl1	A	G	19: 61,163,973 (GRCm39)	V154A	possibly damaging	Het
Myo10	C	G	15: 25,783,067 (GRCm39)	R1170G	probably damaging	Het
Myo16	A	C	8: 10,322,687 (GRCm39)	Q39P	unknown	Het
Myo1f	A	G	17: 33,820,668 (GRCm39)	E837G	probably benign	Het
Nell2	T	A	15: 95,333,274 (GRCm39)	I128F	possibly damaging	Het
Or1i2	A	G	10: 78,448,448 (GRCm39)	V9A	probably benign	Het
Pcdh15	A	T	10: 74,215,222 (GRCm39)	R659*	probably null	Het
Pcdhga1	A	G	18: 37,973,028 (GRCm39)	Q881R	possibly damaging	Het
Plekhm2	T	G	4: 141,369,770 (GRCm39)	E75A	possibly damaging	Het
Prc1	A	G	7: 79,957,405 (GRCm39)	K357E	possibly damaging	Het
Pxk	T	A	14: 8,146,220 (GRCm38)	C377S	probably benign	Het
Ralgapa2	T	C	2: 146,176,488 (GRCm39)	E1696G	probably damaging	Het
Rbbp6	T	A	7: 122,600,590 (GRCm39)	S1532R	unknown	Het
Scn5a	G	T	9: 119,391,626 (GRCm39)	A22E	probably benign	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Siae	T	C	9: 37,534,309 (GRCm39)	V115A	probably damaging	Het
Slc16a6	A	G	11: 109,344,107 (GRCm39)	C563R	probably benign	Het
Sntg1	A	C	1: 8,752,243 (GRCm39)	V58G	possibly damaging	Het
Snx11	C	T	11: 96,663,985 (GRCm39)	V36M	probably damaging	Het
Stk3	C	A	15: 34,959,182 (GRCm39)	S330I	probably benign	Het
Synpo	A	G	18: 60,762,631 (GRCm39)	F92S	probably benign	Het
Tle1	A	G	4: 72,057,924 (GRCm39)		probably null	Het
Tmem217b	C	A	17: 29,738,347 (GRCm39)	V140L	probably benign	Het
Tmprss5	T	C	9: 49,025,841 (GRCm39)	W338R	probably benign	Het
Tnfrsf19	T	C	14: 61,212,147 (GRCm39)	T168A	possibly damaging	Het
Trhde	C	T	10: 114,636,776 (GRCm39)	G144S	possibly damaging	Het
Trim56	G	T	5: 137,143,097 (GRCm39)	Q140K	probably damaging	Het
Ttn	C	T	2: 76,562,918 (GRCm39)	V28679M	probably damaging	Het
Ubxn8	G	A	8: 34,113,231 (GRCm39)	R208C	probably damaging	Het
Vmn2r72	G	T	7: 85,387,482 (GRCm39)	S694*	probably null	Het
Wdr38	T	A	2: 38,890,276 (GRCm39)	W137R	probably damaging	Het
Zdhhc6	G	T	19: 55,292,932 (GRCm39)	N271K	probably damaging	Het
Zfyve9	A	G	4: 108,575,744 (GRCm39)	S446P	possibly damaging	Het
Zmynd8	T	C	2: 165,649,492 (GRCm39)	Q867R	possibly damaging	Het
Zswim3	T	C	2: 164,662,402 (GRCm39)	I294T	probably benign	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
R6334:Tmem117	UTSW	15	94,909,324 (GRCm39)	missense	probably benign	0.01
R7216:Tmem117	UTSW	15	94,612,793 (GRCm39)	missense	possibly damaging	0.91
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'- CTCAGTGTTTCCATGGCAAATAAC -3'
(R):5'- GCAGCAGAGCCTTCCTAAATGG -3'

Sequencing Primer
(F):5'- GTGTTTCCATGGCAAATAACTAAAC -3'
(R):5'- GTGCGATTTCCTACCAGA -3'

Posted On

2019-06-26