Mutagenetix > Incidental Mutation

Incidental Mutation 'R7655:Tmem116'

591124

Institutional Source

Beutler Lab

Gene Symbol

Tmem116

Ensembl Gene

ENSMUSG00000029452

Gene Name

transmembrane protein 116

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7655 (G1)

Quality Score

198.009

Status

Not validated

Chromosome

Chromosomal Location

121451893-121524183 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 121452189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052590] [ENSMUST00000060004] [ENSMUST00000111795] [ENSMUST00000111802] [ENSMUST00000130451] [ENSMUST00000153758] [ENSMUST00000156080]

AlphaFold

G3X9M9

Predicted Effect

probably null
Transcript: ENSMUST00000052590

SMART Domains

Protein: ENSMUSP00000059275
Gene: ENSMUSG00000029616

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
SCOP:d1g7ea_	35	52	1e-5	SMART

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: ENSMUST00000111795

SMART Domains

Protein: ENSMUSP00000144614
Gene: ENSMUSG00000029452

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111802

SMART Domains

Protein: ENSMUSP00000107433
Gene: ENSMUSG00000029616

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
SCOP:d1g7ea_	35	50	5e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124247

SMART Domains

Protein: ENSMUSP00000134334
Gene: ENSMUSG00000029452

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

Predicted Effect

probably null
Transcript: ENSMUST00000130451

SMART Domains

Protein: ENSMUSP00000117347
Gene: ENSMUSG00000029616

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:ERp29_N	35	157	9.3e-61	PFAM
Pfam:ERp29	158	252	7.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145729

Predicted Effect

probably benign
Transcript: ENSMUST00000150805

Predicted Effect

probably benign
Transcript: ENSMUST00000153758

SMART Domains

Protein: ENSMUSP00000122522
Gene: ENSMUSG00000029616

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
SCOP:d1g7ea_	35	55	3e-6	SMART

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	A	G	12: 83,992,917	Y400C	probably benign	Het
Agbl1	A	G	7: 76,409,332	M237V		Het
Arntl2	A	G	6: 146,806,442	T21A	probably benign	Het
Atrnl1	C	A	19: 57,611,379	S9*	probably null	Het
BC031181	A	T	18: 75,009,335	K71*	probably null	Het
Brpf1	A	T	6: 113,314,874	M294L	probably benign	Het
Camk2g	T	G	14: 20,739,342	D382A	possibly damaging	Het
Ccdc33	T	A	9: 58,118,465	R94W	probably damaging	Het
Cd244	T	A	1: 171,577,255	L225Q	probably damaging	Het
Chsy1	G	T	7: 66,171,030	V338F	probably damaging	Het
Col14a1	A	G	15: 55,362,450	I170V	unknown	Het
Col6a2	G	T	10: 76,607,756	Q492K	probably benign	Het
Dnah12	G	T	14: 26,859,316	V3168L	probably benign	Het
Dnah7a	T	C	1: 53,496,005	S2699G	possibly damaging	Het
Fam206a	A	G	4: 56,804,218	I78V	probably benign	Het
Fsip2	A	G	2: 82,977,542	K1402E	possibly damaging	Het
Ghdc	C	T	11: 100,769,667	A127T	probably benign	Het
Glp1r	T	C	17: 30,930,598		probably null	Het
Gm15922	T	C	7: 3,739,282	E82G	probably damaging	Het
Gm19410	A	T	8: 35,809,099	M1637L	probably benign	Het
Gm906	T	G	13: 50,247,086	K401N	probably benign	Het
Grm5	T	G	7: 88,130,251	D998E	probably benign	Het
Krtcap3	A	G	5: 31,252,560	T157A	probably damaging	Het
Luc7l2	A	G	6: 38,603,464	R333G	unknown	Het
Mdc1	T	G	17: 35,850,881	S895R	probably benign	Het
Mef2a	G	A	7: 67,295,394	T80M	probably damaging	Het
Mitd1	T	A	1: 37,885,275	I65F	probably benign	Het
Mms19	A	G	19: 41,944,572	L1026P	probably damaging	Het
Mtbp	G	T	15: 55,609,526	V629L	unknown	Het
Ncapd3	T	A	9: 27,055,505	I545N	possibly damaging	Het
Nin	G	A	12: 70,042,768	T1291M		Het
Olfr1487	A	T	19: 13,619,833	I181F	probably damaging	Het
Olfr419	T	A	1: 174,250,218	K236N	probably damaging	Het
Orc3	G	T	4: 34,587,032	C352*	probably null	Het
Oxct2b	G	A	4: 123,117,757	G490D	probably benign	Het
Pcdhb16	A	T	18: 37,479,405	T473S	probably benign	Het
Phkg2	G	A	7: 127,582,902	G365D	probably damaging	Het
Ppp2r3a	A	T	9: 101,211,712	F471I	probably benign	Het
Prl3d1	T	C	13: 27,100,035	C196R	possibly damaging	Het
Prmt1	A	T	7: 44,984,128	F14L	probably benign	Het
Prox1	A	G	1: 190,162,221	L9P	probably damaging	Het
Ptpn13	T	A	5: 103,540,983	F881I	probably benign	Het
Rab3ip	A	G	10: 116,914,139	I363T	probably benign	Het
Rapgef3	T	C	15: 97,761,209	E134G	probably damaging	Het
Rapgef6	C	T	11: 54,694,453	P1559L	probably benign	Het
Rnf180	T	C	13: 105,167,588	K507E	probably damaging	Het
Rpl3l	T	C	17: 24,730,986	I53T	probably benign	Het
Rtl1	T	C	12: 109,591,008	I1466V	unknown	Het
Saxo2	A	G	7: 82,635,351	Y100H	probably damaging	Het
Selenoh	G	T	2: 84,670,380	R39S	probably damaging	Het
Sgsm2	A	G	11: 74,865,497	V342A	probably damaging	Het
Slc26a9	T	A	1: 131,763,244	F587I	possibly damaging	Het
Smoc1	A	T	12: 81,105,908	Q91L	possibly damaging	Het
Spag9	A	C	11: 93,996,563	H98P	possibly damaging	Het
T2	T	A	17: 8,418,215	C337*	probably null	Het
Tbc1d19	A	G	5: 53,897,035	Y455C	probably damaging	Het
Thbd	A	G	2: 148,407,420	L176P	probably damaging	Het
Tmem25	C	T	9: 44,798,343	V54I	possibly damaging	Het
Trpm4	C	T	7: 45,321,809	V378I	probably benign	Het
Trrap	G	T	5: 144,842,612	W3129C	probably damaging	Het
Ttn	A	T	2: 76,728,316	D29740E	probably damaging	Het
Vcan	C	T	13: 89,685,114	C3073Y	probably damaging	Het
Xrra1	T	A	7: 99,910,982	D388E	probably benign	Het

Other mutations in Tmem116

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Tmem116	APN	5	121463799	missense	probably benign	0.05
IGL02711:Tmem116	APN	5	121487741	splice site	probably benign
R0008:Tmem116	UTSW	5	121495096	missense	probably damaging	1.00
R0131:Tmem116	UTSW	5	121493782	splice site	probably benign
R1163:Tmem116	UTSW	5	121493756	missense	probably damaging	1.00
R1490:Tmem116	UTSW	5	121495111	missense	probably damaging	1.00
R2019:Tmem116	UTSW	5	121489254	missense	possibly damaging	0.85
R6007:Tmem116	UTSW	5	121517892	makesense	probably null
R6215:Tmem116	UTSW	5	121491108	missense	probably benign	0.02
R6216:Tmem116	UTSW	5	121491108	missense	probably benign	0.02
R6221:Tmem116	UTSW	5	121491108	missense	probably benign	0.02
R6222:Tmem116	UTSW	5	121491108	missense	probably benign	0.02
R6980:Tmem116	UTSW	5	121467987	critical splice donor site	probably null
R7055:Tmem116	UTSW	5	121467924	missense	probably damaging	1.00
R7248:Tmem116	UTSW	5	121463836	splice site	probably null
R7268:Tmem116	UTSW	5	121467855	missense
R7485:Tmem116	UTSW	5	121495061	missense
R7656:Tmem116	UTSW	5	121452189	critical splice donor site	probably null
R8737:Tmem116	UTSW	5	121482370	missense
R9084:Tmem116	UTSW	5	121489324	missense
R9168:Tmem116	UTSW	5	121467912	missense
X0024:Tmem116	UTSW	5	121482394	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTACCGGGGTTGCAAGGAT -3'
(R):5'- TCTTCTTCCGAGGCGAGAGA -3'

Sequencing Primer
(F):5'- AAGGATGCCGGGTGGTC -3'
(R):5'- TAGCCGAGTGTCGCCAAGTG -3'

Posted On

2019-11-12