Mutagenetix > Incidental Mutation

Incidental Mutation 'R8453:Tmem115'

654866

Institutional Source

Beutler Lab

Gene Symbol

Tmem115

Ensembl Gene

ENSMUSG00000010045

Gene Name

transmembrane protein 115

Synonyms

Pl6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R8453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107533945-107538673 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107534798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 107 (V107A)

Ref Sequence

ENSEMBL: ENSMUSP00000010189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010189] [ENSMUST00000041459] [ENSMUST00000195235]

AlphaFold

Q9WUH1

Predicted Effect

probably benign
Transcript: ENSMUST00000010189
AA Change: V107A

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000010189
Gene: ENSMUSG00000010045
AA Change: V107A

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
DUF1751	49	151	4.14e-41	SMART
transmembrane domain	164	183	N/A	INTRINSIC
transmembrane domain	190	208	N/A	INTRINSIC
transmembrane domain	223	245	N/A	INTRINSIC
Blast:DUF1751	304	347	2e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000041459

SMART Domains

Protein: ENSMUSP00000044093
Gene: ENSMUSG00000037190

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
B561	47	178	8.01e-42	SMART
transmembrane domain	189	211	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194344

Predicted Effect

probably benign
Transcript: ENSMUST00000195235

SMART Domains

Protein: ENSMUSP00000141723
Gene: ENSMUSG00000037190

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
B561	47	178	8.01e-42	SMART
transmembrane domain	189	211	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	A	T	5: 90,566,501	R123S	possibly damaging	Het
8030462N17Rik	T	C	18: 77,673,908	E236G	probably damaging	Het
9630041A04Rik	G	T	9: 101,938,685	C23F	possibly damaging	Het
Adam29	T	C	8: 55,873,161	H86R	possibly damaging	Het
Alas1	C	T	9: 106,236,522	R508Q	possibly damaging	Het
Bmp3	G	A	5: 98,855,423		probably null	Het
Bud13	A	G	9: 46,288,201	T287A	probably benign	Het
C3	T	C	17: 57,212,643	E1203G	probably benign	Het
Carmil2	A	C	8: 105,690,211	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,276,446	T707S	probably damaging	Het
Cfap43	A	T	19: 47,746,647	V1435E	probably damaging	Het
Chrm3	A	T	13: 9,877,231	*590K	probably null	Het
Commd1	C	T	11: 22,978,503		probably benign	Het
Creb3l1	A	T	2: 91,990,929	Y314*	probably null	Het
Ctc1	T	A	11: 69,022,449	S90R	probably benign	Het
Dixdc1	T	C	9: 50,684,886	Q413R	probably benign	Het
Dlg5	T	C	14: 24,158,145	T998A	probably benign	Het
Fam89b	A	G	19: 5,728,875	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,290,735	I400M	probably benign	Het
Gad1	A	T	2: 70,600,713	M567L	probably benign	Het
Gemin5	T	C	11: 58,125,239	S1314G	probably benign	Het
Gm2035	C	T	12: 87,919,553	S102N	probably benign	Het
Gm9195	T	G	14: 72,440,761	I2323L	probably benign	Het
Gria1	T	A	11: 57,243,051	F585L	probably damaging	Het
Hbs1l	A	T	10: 21,309,279	H200L	probably benign	Het
Igsf5	A	G	16: 96,421,796	Q360R	probably benign	Het
Il31ra	A	T	13: 112,524,183	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,387,820	R837G	probably damaging	Het
Lpl	A	G	8: 68,895,781	I221V	probably damaging	Het
Mcf2l	T	C	8: 12,984,956		probably null	Het
Mink1	T	A	11: 70,610,328	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,202	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,988,377	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,332,311	V460E	probably damaging	Het
Nicn1	T	A	9: 108,293,373	F57Y	probably damaging	Het
Nlrp4b	A	G	7: 10,715,601	Y577C	probably damaging	Het
Nrap	T	C	19: 56,323,920	T1535A	probably damaging	Het
Opa1	G	A	16: 29,620,868	R755H	probably damaging	Het
P4htm	C	T	9: 108,580,367		probably benign	Het
Phldb2	A	G	16: 45,825,022	S354P	probably benign	Het
Phykpl	T	C	11: 51,598,294	S316P	probably damaging	Het
Pnpla1	T	A	17: 28,858,899	D11E	probably benign	Het
Pold2	A	G	11: 5,875,104	F98L	probably damaging	Het
Prph	G	A	15: 99,056,776	R241Q	probably benign	Het
Rcl1	T	C	19: 29,115,759	I58T	possibly damaging	Het
Rps6ka2	A	G	17: 7,246,752	N117D	probably benign	Het
Sars	G	A	3: 108,428,713	S331L	probably benign	Het
Scfd1	A	C	12: 51,412,591	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,989,348	C363R	probably benign	Het
Senp7	A	G	16: 56,188,328	I1024V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sptbn4	A	G	7: 27,404,238	L1191P	probably damaging	Het
Ssfa2	T	C	2: 79,644,785	S363P	probably benign	Het
Stk40	A	G	4: 126,128,973	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,809,048	V536E	probably benign	Het
Suco	A	T	1: 161,823,017		probably benign	Het
Tex15	G	T	8: 33,576,871	E2110*	probably null	Het
Thbs4	G	A	13: 92,790,817	P55S	probably benign	Het
Tnfaip6	A	C	2: 52,055,867	I242L	probably benign	Het
Trabd	G	T	15: 89,085,413	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,487,740	I86F	probably damaging	Het
Trpc7	A	G	13: 56,822,559	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,610,887	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,561,908	D707V	probably damaging	Het
Vnn3	G	A	10: 23,869,545	R464H	probably benign	Het
Wdr27	T	C	17: 14,892,489	T652A	probably benign	Het
Wdr78	A	G	4: 103,059,916	I577T	possibly damaging	Het
Yeats2	C	T	16: 20,222,887	R1176*	probably null	Het

Other mutations in Tmem115

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Tmem115	APN	9	107534582	missense	probably damaging	1.00
IGL01142:Tmem115	APN	9	107534645	missense	possibly damaging	0.94
IGL01386:Tmem115	APN	9	107534660	missense	probably damaging	1.00
IGL01705:Tmem115	APN	9	107535204	missense	probably benign	0.44
Gooseneck	UTSW	9	107534794	unclassified	probably benign
R0746:Tmem115	UTSW	9	107537999	missense	probably benign	0.11
R1511:Tmem115	UTSW	9	107534975	missense	probably benign	0.04
R4182:Tmem115	UTSW	9	107535283	missense	probably damaging	1.00
R4770:Tmem115	UTSW	9	107534957	missense	probably benign	0.43
R5097:Tmem115	UTSW	9	107534860	missense	probably benign	0.03
R5141:Tmem115	UTSW	9	107537942	missense	probably benign	0.01
R5687:Tmem115	UTSW	9	107534855	missense	probably benign	0.17
R7145:Tmem115	UTSW	9	107535086	missense	probably benign	0.30
R8299:Tmem115	UTSW	9	107534546	missense	possibly damaging	0.94
R8353:Tmem115	UTSW	9	107534798	missense	probably benign	0.44
R8717:Tmem115	UTSW	9	107537933	missense	possibly damaging	0.77
R8901:Tmem115	UTSW	9	107534794	unclassified	probably benign
R9017:Tmem115	UTSW	9	107534681	missense	probably benign	0.28
R9384:Tmem115	UTSW	9	107534543	missense	possibly damaging	0.94
X0067:Tmem115	UTSW	9	107534513	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTCCTTCGCTGTGGACACG -3'
(R):5'- ACTGGATAGCAGCCCAAAG -3'

Sequencing Primer
(F):5'- CTGTGGACACGGGCTGC -3'
(R):5'- CATGGGAACGACGCTGAC -3'

Posted On

2020-10-20