Mutagenetix > Incidental Mutation

Incidental Mutation 'R1746:Tmem117'

194013

Institutional Source

Beutler Lab

Gene Symbol

Tmem117

Ensembl Gene

ENSMUSG00000063296

Gene Name

transmembrane protein 117

Synonyms

B930062P21Rik

MMRRC Submission

039778-MU

Accession Numbers

Essential gene?

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

Stock #

R1746 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94527113-94993979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 94829714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 183 (D183A)

Ref Sequence

ENSEMBL: ENSMUSP00000079038 (fasta)

Gene Model

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

AlphaFold

Q8BH18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080141
AA Change: D183A

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079038
Gene: ENSMUSG00000063296
AA Change: D183A

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

Meta Mutation Damage Score

0.0978

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	A	13: 70,927,717 (GRCm39)		probably null	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Aknad1	A	G	3: 108,659,099 (GRCm39)	T38A	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgap21	T	C	2: 20,865,910 (GRCm39)	E902G	probably damaging	Het
Atg2b	A	G	12: 105,635,588 (GRCm39)	S227P	possibly damaging	Het
Atp2c2	C	T	8: 120,461,182 (GRCm39)		probably benign	Het
Atxn10	T	C	15: 85,260,864 (GRCm39)	V203A	probably damaging	Het
Chd9	A	C	8: 91,737,326 (GRCm39)	E1468D	probably benign	Het
Cntn5	T	A	9: 9,831,577 (GRCm39)	D601V	probably damaging	Het
Col4a2	G	A	8: 11,496,020 (GRCm39)	G1547D	probably benign	Het
Cul1	A	G	6: 47,485,179 (GRCm39)	E270G	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dmgdh	C	A	13: 93,888,933 (GRCm39)	T857K	probably benign	Het
Ednra	T	G	8: 78,398,211 (GRCm39)	T279P	probably benign	Het
Erbin	A	G	13: 103,987,339 (GRCm39)	I407T	probably damaging	Het
Fggy	A	G	4: 95,814,965 (GRCm39)	Y440C	probably damaging	Het
Flrt2	A	T	12: 95,747,566 (GRCm39)	N635Y	possibly damaging	Het
Fnbp1l	A	G	3: 122,350,140 (GRCm39)	I357T	probably benign	Het
Gulp1	A	G	1: 44,793,513 (GRCm39)	H58R	possibly damaging	Het
Hid1	A	T	11: 115,245,464 (GRCm39)	V446E	probably damaging	Het
Igfn1	A	G	1: 135,897,561 (GRCm39)	S1002P	possibly damaging	Het
Klri1	A	G	6: 129,675,118 (GRCm39)		probably null	Het
Kmt2d	A	C	15: 98,762,259 (GRCm39)	L409R	probably damaging	Het
Ltn1	A	C	16: 87,208,669 (GRCm39)	S810A	possibly damaging	Het
Mysm1	G	A	4: 94,836,648 (GRCm39)	Q721*	probably null	Het
Nae1	A	G	8: 105,254,017 (GRCm39)	V105A	possibly damaging	Het
Nagpa	C	T	16: 5,021,503 (GRCm39)	V83M	probably damaging	Het
Nrg2	G	A	18: 36,154,975 (GRCm39)	T503M	probably damaging	Het
Nrxn3	A	G	12: 89,221,789 (GRCm39)	M150V	possibly damaging	Het
Or5p52	C	A	7: 107,502,093 (GRCm39)	H56Q	probably benign	Het
Or8g28	A	G	9: 39,169,498 (GRCm39)	S157P	probably damaging	Het
Papola	T	A	12: 105,773,468 (GRCm39)	D162E	probably benign	Het
Plxnc1	T	C	10: 94,680,041 (GRCm39)		probably null	Het
Ppp1r16b	T	A	2: 158,588,585 (GRCm39)		probably null	Het
Ptprq	T	A	10: 107,474,691 (GRCm39)	E1338V	probably damaging	Het
Puf60	G	A	15: 75,942,633 (GRCm39)	H437Y	probably benign	Het
Qsox2	C	T	2: 26,110,650 (GRCm39)	V189I	probably benign	Het
Rad51ap2	A	T	12: 11,507,776 (GRCm39)	D566V	probably benign	Het
Rb1cc1	T	A	1: 6,333,237 (GRCm39)		probably null	Het
Rfpl4b	C	T	10: 38,697,049 (GRCm39)	C184Y	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rundc3a	GAGCC	GAGCCAGCC	11: 102,291,739 (GRCm39)		probably null	Het
Scara5	A	C	14: 65,968,539 (GRCm39)	M271L	probably benign	Het
Sel1l2	A	G	2: 140,127,157 (GRCm39)	L118P	probably damaging	Het
Sema6a	T	A	18: 47,439,416 (GRCm39)		probably benign	Het
Siglech	T	A	7: 55,418,252 (GRCm39)	H73Q	probably benign	Het
Sim1	A	G	10: 50,860,205 (GRCm39)	D689G	probably benign	Het
Skp2	T	C	15: 9,139,530 (GRCm39)	E55G	possibly damaging	Het
Slc1a1	T	A	19: 28,871,869 (GRCm39)	V114E	probably benign	Het
Slc26a6	G	A	9: 108,738,916 (GRCm39)	G614D	probably benign	Het
Sptbn2	C	T	19: 4,795,992 (GRCm39)	Q1724*	probably null	Het
Tet3	T	C	6: 83,345,050 (GRCm39)	T1796A	probably damaging	Het
Trmt44	A	G	5: 35,721,403 (GRCm39)	S587P	probably benign	Het
Ttn	G	T	2: 76,619,166 (GRCm39)		probably benign	Het
Tubgcp5	G	A	7: 55,458,285 (GRCm39)	V399M	probably benign	Het
Txndc2	T	A	17: 65,945,130 (GRCm39)	D349V	probably damaging	Het
Uggt2	T	A	14: 119,250,915 (GRCm39)	N1194I	probably benign	Het
Vmn1r178	A	T	7: 23,593,329 (GRCm39)	I53L	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	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
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
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'- TTCAAGTGAGAGGAGAAGGGCTTGATAT -3'
(R):5'- GGTAATGATTTTAGTGGGGCAGCAGA -3'

Sequencing Primer
(F):5'- AATAACCAGGCTCAGTGTTTCC -3'
(R):5'- AGCAGAGCCTTCCTAAATGG -3'

Posted On

2014-05-23