Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01705:Tmem115'

104565

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem115

Ensembl Gene

ENSMUSG00000010045

Gene Name

transmembrane protein 115

Synonyms

Pl6

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

IGL01705

Quality Score

Status

Chromosome

Chromosomal Location

107411144-107415855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107412403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 242 (L242F)

Ref Sequence

ENSEMBL: ENSMUSP00000010189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010189] [ENSMUST00000041459] [ENSMUST00000194967] [ENSMUST00000195235]

AlphaFold

Q9WUH1

Predicted Effect

probably benign
Transcript: ENSMUST00000010189
AA Change: L242F

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000010189
Gene: ENSMUSG00000010045
AA Change: L242F

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

noncoding transcript
Transcript: ENSMUST00000194906

Predicted Effect

probably benign
Transcript: ENSMUST00000194967

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,166,038 (GRCm39)	T1077A	possibly damaging	Het
Akap13	T	C	7: 75,396,515 (GRCm39)	V2504A	possibly damaging	Het
Anks3	A	T	16: 4,765,587 (GRCm39)	W172R	probably benign	Het
Asap2	T	A	12: 21,299,369 (GRCm39)	N633K	possibly damaging	Het
Astn1	A	T	1: 158,331,883 (GRCm39)	S326C	probably damaging	Het
Cachd1	A	G	4: 100,840,736 (GRCm39)	K900E	possibly damaging	Het
Cd5	A	T	19: 10,703,659 (GRCm39)		probably null	Het
D130043K22Rik	T	A	13: 25,041,924 (GRCm39)	N284K	probably benign	Het
Dtna	C	T	18: 23,678,788 (GRCm39)	A38V	probably damaging	Het
Eny2	C	A	15: 44,295,831 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,779,254 (GRCm39)	Q930R	possibly damaging	Het
Igkv4-73	A	T	6: 69,174,709 (GRCm39)		noncoding transcript	Het
Lama2	A	T	10: 27,065,270 (GRCm39)		probably benign	Het
Lipg	A	G	18: 75,081,042 (GRCm39)		probably null	Het
Neto2	T	C	8: 86,367,632 (GRCm39)	K371E	probably damaging	Het
Or8g52	T	C	9: 39,630,877 (GRCm39)	M118T	possibly damaging	Het
Paxbp1	A	G	16: 90,813,876 (GRCm39)	F834L	probably benign	Het
Paxip1	A	T	5: 27,953,857 (GRCm39)	S946R	probably damaging	Het
Pclo	A	G	5: 14,727,879 (GRCm39)		probably benign	Het
Plcg2	T	C	8: 118,308,401 (GRCm39)	L331P	probably damaging	Het
Reep1	A	G	6: 71,750,272 (GRCm39)	T95A	probably damaging	Het
Rfx2	A	G	17: 57,092,303 (GRCm39)	Y332H	possibly damaging	Het
Smchd1	A	T	17: 71,688,393 (GRCm39)	D1288E	probably damaging	Het
Spag17	A	G	3: 99,930,046 (GRCm39)	M582V	probably benign	Het
Susd1	A	G	4: 59,332,931 (GRCm39)		probably benign	Het
Syt9	T	G	7: 107,035,559 (GRCm39)	L192R	probably damaging	Het
Tlr6	T	C	5: 65,111,473 (GRCm39)	K478R	probably benign	Het
Tmt1b	T	A	10: 128,794,731 (GRCm39)	I198F	probably benign	Het
Tnfaip1	T	C	11: 78,416,294 (GRCm39)	D263G	probably benign	Het
Ubqln3	T	A	7: 103,791,884 (GRCm39)	I69F	probably damaging	Het
Vps52	T	C	17: 34,185,042 (GRCm39)	L712P	probably damaging	Het

Other mutations in Tmem115

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Tmem115	APN	9	107,411,781 (GRCm39)	missense	probably damaging	1.00
IGL01142:Tmem115	APN	9	107,411,844 (GRCm39)	missense	possibly damaging	0.94
IGL01386:Tmem115	APN	9	107,411,859 (GRCm39)	missense	probably damaging	1.00
Gooseneck	UTSW	9	107,411,993 (GRCm39)	unclassified	probably benign
R0746:Tmem115	UTSW	9	107,415,198 (GRCm39)	missense	probably benign	0.11
R1511:Tmem115	UTSW	9	107,412,174 (GRCm39)	missense	probably benign	0.04
R4182:Tmem115	UTSW	9	107,412,482 (GRCm39)	missense	probably damaging	1.00
R4770:Tmem115	UTSW	9	107,412,156 (GRCm39)	missense	probably benign	0.43
R5097:Tmem115	UTSW	9	107,412,059 (GRCm39)	missense	probably benign	0.03
R5141:Tmem115	UTSW	9	107,415,141 (GRCm39)	missense	probably benign	0.01
R5687:Tmem115	UTSW	9	107,412,054 (GRCm39)	missense	probably benign	0.17
R7145:Tmem115	UTSW	9	107,412,285 (GRCm39)	missense	probably benign	0.30
R8299:Tmem115	UTSW	9	107,411,745 (GRCm39)	missense	possibly damaging	0.94
R8353:Tmem115	UTSW	9	107,411,997 (GRCm39)	missense	probably benign	0.44
R8453:Tmem115	UTSW	9	107,411,997 (GRCm39)	missense	probably benign	0.44
R8717:Tmem115	UTSW	9	107,415,132 (GRCm39)	missense	possibly damaging	0.77
R8901:Tmem115	UTSW	9	107,411,993 (GRCm39)	unclassified	probably benign
R9017:Tmem115	UTSW	9	107,411,880 (GRCm39)	missense	probably benign	0.28
R9384:Tmem115	UTSW	9	107,411,742 (GRCm39)	missense	possibly damaging	0.94
X0067:Tmem115	UTSW	9	107,411,712 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-01-21