Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01152:Tmem116'

51204

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem116

Ensembl Gene

ENSMUSG00000029452

Gene Name

transmembrane protein 116

Synonyms

C030022K24Rik, 4930406A18Rik, 4930513P12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01152

Quality Score

Status

Chromosome

Chromosomal Location

121590643-121656601 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121601862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 21 (I21V)

Ref Sequence

ENSEMBL: ENSMUSP00000091917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031405] [ENSMUST00000060004] [ENSMUST00000094357] [ENSMUST00000111795] [ENSMUST00000149966] [ENSMUST00000156080]

AlphaFold

G3X9M9

Predicted Effect

probably benign
Transcript: ENSMUST00000031405
AA Change: I21V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031405
Gene: ENSMUSG00000029452
AA Change: I21V

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
transmembrane domain	65	84	N/A	INTRINSIC
transmembrane domain	105	127	N/A	INTRINSIC
transmembrane domain	170	192	N/A	INTRINSIC
transmembrane domain	225	242	N/A	INTRINSIC
transmembrane domain	257	279	N/A	INTRINSIC
low complexity region	311	326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000060004

SMART Domains

Protein: ENSMUSP00000054232
Gene: ENSMUSG00000029452

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	105	122	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
low complexity region	191	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094357
AA Change: I21V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000091917
Gene: ENSMUSG00000029452
AA Change: I21V

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
transmembrane domain	140	162	N/A	INTRINSIC
transmembrane domain	205	227	N/A	INTRINSIC
transmembrane domain	260	277	N/A	INTRINSIC
transmembrane domain	292	314	N/A	INTRINSIC
low complexity region	346	361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111795

SMART Domains

Protein: ENSMUSP00000144614
Gene: ENSMUSG00000029452

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000124247
AA Change: N78S

SMART Domains

Protein: ENSMUSP00000134334
Gene: ENSMUSG00000029452
AA Change: N78S

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000145729
AA Change: N61S

Predicted Effect

probably benign
Transcript: ENSMUST00000149966

SMART Domains

Protein: ENSMUSP00000116328
Gene: ENSMUSG00000029452

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	105	123	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172722

Predicted Effect

unknown
Transcript: ENSMUST00000150805
AA Change: N78S

Predicted Effect

probably benign
Transcript: ENSMUST00000156080

SMART Domains

Protein: ENSMUSP00000121579
Gene: ENSMUSG00000029452

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
transmembrane domain	140	162	N/A	INTRINSIC
transmembrane domain	205	227	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	T	G	1: 192,515,947 (GRCm39)		noncoding transcript	Het
Abcb4	G	A	5: 9,000,678 (GRCm39)	V1031M	probably benign	Het
Abcc4	A	G	14: 118,836,797 (GRCm39)	S655P	probably damaging	Het
Actn1	T	C	12: 80,245,820 (GRCm39)	K121R	probably damaging	Het
Aldh1l2	T	A	10: 83,358,750 (GRCm39)	R82*	probably null	Het
Arhgap31	T	A	16: 38,422,601 (GRCm39)	H1155L	possibly damaging	Het
Atp8a1	G	T	5: 68,004,549 (GRCm39)	P2Q	probably damaging	Het
Bcs1l	A	G	1: 74,631,174 (GRCm39)	M401V	possibly damaging	Het
Brca2	A	T	5: 150,465,855 (GRCm39)	N1873I	probably damaging	Het
Cenpj	T	C	14: 56,789,757 (GRCm39)	N764S	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Clk1	A	T	1: 58,452,611 (GRCm39)	C359S	possibly damaging	Het
Clk2	T	A	3: 89,083,818 (GRCm39)	F479I	probably damaging	Het
Cul4b	T	C	X: 37,632,247 (GRCm39)	M709V	probably damaging	Het
D130052B06Rik	G	T	11: 33,573,620 (GRCm39)		probably null	Het
Dgkb	T	A	12: 38,134,233 (GRCm39)	N46K	probably damaging	Het
Dnah9	C	T	11: 65,962,882 (GRCm39)	R1811H	probably damaging	Het
Dnajc18	T	C	18: 35,813,926 (GRCm39)	N281S	probably benign	Het
Galnt5	A	T	2: 57,915,405 (GRCm39)	I654L	probably benign	Het
Gm9989	T	G	3: 81,829,518 (GRCm39)		noncoding transcript	Het
Gpr179	T	C	11: 97,228,237 (GRCm39)	E1306G	probably benign	Het
Gsc	C	A	12: 104,437,864 (GRCm39)	K219N	probably damaging	Het
Gsx2	A	T	5: 75,236,452 (GRCm39)	I11F	probably damaging	Het
Igdcc4	A	C	9: 65,042,446 (GRCm39)	E121A	probably damaging	Het
Lama2	C	T	10: 27,084,425 (GRCm39)	R915H	probably benign	Het
Large2	A	G	2: 92,200,984 (GRCm39)	L64P	probably damaging	Het
Lztr1	C	A	16: 17,340,317 (GRCm39)	Q136K	probably damaging	Het
Mageb18	A	G	X: 91,163,430 (GRCm39)	W271R	possibly damaging	Het
Magoh	A	C	4: 107,742,203 (GRCm39)		probably benign	Het
Matcap2	A	T	9: 22,346,460 (GRCm39)	H356L	probably benign	Het
Mrgprx1	T	C	7: 47,671,234 (GRCm39)	H171R	probably benign	Het
Muc1	C	A	3: 89,138,061 (GRCm39)	T301K	probably benign	Het
Nbas	C	T	12: 13,410,959 (GRCm39)	L868F	probably damaging	Het
Nwd2	A	G	5: 63,963,872 (GRCm39)	D1152G	possibly damaging	Het
Or5p68	C	T	7: 107,946,156 (GRCm39)	A11T	probably benign	Het
Or7d10	G	A	9: 19,832,245 (GRCm39)	V247M	possibly damaging	Het
Ovgp1	T	A	3: 105,893,488 (GRCm39)	D420E	possibly damaging	Het
Pacsin3	A	G	2: 91,094,121 (GRCm39)	D350G	probably benign	Het
Pcolce2	A	T	9: 95,574,976 (GRCm39)	N309Y	probably damaging	Het
Pim2	C	A	X: 7,744,661 (GRCm39)		probably benign	Het
Plcb1	A	G	2: 134,655,579 (GRCm39)	Y53C	probably damaging	Het
Pogk	T	C	1: 166,236,047 (GRCm39)	E18G	probably damaging	Het
Pxdn	T	A	12: 30,051,936 (GRCm39)	D704E	probably damaging	Het
Rb1	C	A	14: 73,443,310 (GRCm39)	S781I	probably damaging	Het
Rnpepl1	A	G	1: 92,843,621 (GRCm39)	H247R	possibly damaging	Het
Scube1	A	T	15: 83,497,771 (GRCm39)	F697I	probably damaging	Het
Sel1l3	G	T	5: 53,273,675 (GRCm39)	H1064N	probably damaging	Het
Serinc3	A	G	2: 163,478,831 (GRCm39)	Y99H	probably damaging	Het
Slc36a2	T	A	11: 55,060,673 (GRCm39)		probably benign	Het
Smarcc1	A	C	9: 109,968,693 (GRCm39)	E130A	possibly damaging	Het
Strc	A	G	2: 121,201,276 (GRCm39)	M1273T	probably benign	Het
Tmem190	T	C	7: 4,787,025 (GRCm39)		probably benign	Het
Trim63	C	T	4: 134,052,987 (GRCm39)	A316V	probably benign	Het
Ugt2b34	T	C	5: 87,049,062 (GRCm39)	E321G	probably damaging	Het
Zfat	T	A	15: 67,982,353 (GRCm39)	R1053S	probably damaging	Het

Other mutations in Tmem116

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02711:Tmem116	APN	5	121,625,804 (GRCm39)	splice site	probably benign
R0008:Tmem116	UTSW	5	121,633,159 (GRCm39)	missense	probably damaging	1.00
R0131:Tmem116	UTSW	5	121,631,845 (GRCm39)	splice site	probably benign
R1163:Tmem116	UTSW	5	121,631,819 (GRCm39)	missense	probably damaging	1.00
R1490:Tmem116	UTSW	5	121,633,174 (GRCm39)	missense	probably damaging	1.00
R2019:Tmem116	UTSW	5	121,627,317 (GRCm39)	missense	possibly damaging	0.85
R6007:Tmem116	UTSW	5	121,655,955 (GRCm39)	makesense	probably null
R6215:Tmem116	UTSW	5	121,629,171 (GRCm39)	missense	probably benign	0.02
R6216:Tmem116	UTSW	5	121,629,171 (GRCm39)	missense	probably benign	0.02
R6221:Tmem116	UTSW	5	121,629,171 (GRCm39)	missense	probably benign	0.02
R6222:Tmem116	UTSW	5	121,629,171 (GRCm39)	missense	probably benign	0.02
R6980:Tmem116	UTSW	5	121,606,050 (GRCm39)	critical splice donor site	probably null
R7055:Tmem116	UTSW	5	121,605,987 (GRCm39)	missense	probably damaging	1.00
R7248:Tmem116	UTSW	5	121,601,899 (GRCm39)	splice site	probably null
R7268:Tmem116	UTSW	5	121,605,918 (GRCm39)	missense
R7485:Tmem116	UTSW	5	121,633,124 (GRCm39)	missense
R7655:Tmem116	UTSW	5	121,590,252 (GRCm39)	critical splice donor site	probably null
R7656:Tmem116	UTSW	5	121,590,252 (GRCm39)	critical splice donor site	probably null
R8737:Tmem116	UTSW	5	121,620,433 (GRCm39)	missense
R9084:Tmem116	UTSW	5	121,627,387 (GRCm39)	missense
R9168:Tmem116	UTSW	5	121,605,975 (GRCm39)	missense
X0024:Tmem116	UTSW	5	121,620,457 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-06-21