Mutagenetix > Incidental Mutations

Incidental Mutation 'R3894:Tmtc4'

310468

Institutional Source

Beutler Lab

Gene Symbol

Tmtc4

Ensembl Gene

ENSMUSG00000041594

Gene Name

transmembrane and tetratricopeptide repeat containing 4

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122918971-122984035 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 122921319 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037726] [ENSMUST00000126867] [ENSMUST00000126867] [ENSMUST00000143189] [ENSMUST00000148661] [ENSMUST00000148661]

Predicted Effect

probably null
Transcript: ENSMUST00000037726

SMART Domains

Protein: ENSMUSP00000046368
Gene: ENSMUSG00000041594

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	174	191	N/A	INTRINSIC
transmembrane domain	201	220	N/A	INTRINSIC
transmembrane domain	227	249	N/A	INTRINSIC
transmembrane domain	269	288	N/A	INTRINSIC
Pfam:DUF1736	290	369	3e-35	PFAM
transmembrane domain	386	408	N/A	INTRINSIC
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	442	464	N/A	INTRINSIC
TPR	482	515	2.49e-5	SMART
TPR	516	549	9.03e-3	SMART
TPR	550	583	2.49e-5	SMART
TPR	584	617	2.63e-4	SMART
TPR	618	651	5.78e-1	SMART
TPR	652	685	2.19e-1	SMART
TPR	686	719	1.37e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000100291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126494

Predicted Effect

probably null
Transcript: ENSMUST00000126867

SMART Domains

Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	174	191	N/A	INTRINSIC
transmembrane domain	201	220	N/A	INTRINSIC
transmembrane domain	227	249	N/A	INTRINSIC
transmembrane domain	269	288	N/A	INTRINSIC
Pfam:DUF1736	290	369	3e-35	PFAM
transmembrane domain	386	408	N/A	INTRINSIC
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	442	464	N/A	INTRINSIC
TPR	482	515	2.49e-5	SMART
TPR	516	549	9.03e-3	SMART
TPR	550	583	2.49e-5	SMART
TPR	584	617	2.63e-4	SMART
TPR	618	651	5.78e-1	SMART
TPR	652	685	2.19e-1	SMART
TPR	686	719	1.37e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000126867

SMART Domains

Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	174	191	N/A	INTRINSIC
transmembrane domain	201	220	N/A	INTRINSIC
transmembrane domain	227	249	N/A	INTRINSIC
transmembrane domain	269	288	N/A	INTRINSIC
Pfam:DUF1736	290	369	3e-35	PFAM
transmembrane domain	386	408	N/A	INTRINSIC
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	442	464	N/A	INTRINSIC
TPR	482	515	2.49e-5	SMART
TPR	516	549	9.03e-3	SMART
TPR	550	583	2.49e-5	SMART
TPR	584	617	2.63e-4	SMART
TPR	618	651	5.78e-1	SMART
TPR	652	685	2.19e-1	SMART
TPR	686	719	1.37e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143189

SMART Domains

Protein: ENSMUSP00000116480
Gene: ENSMUSG00000041594

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	100	122	N/A	INTRINSIC
transmembrane domain	165	187	N/A	INTRINSIC
transmembrane domain	200	219	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148661

SMART Domains

Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	174	191	N/A	INTRINSIC
transmembrane domain	201	220	N/A	INTRINSIC
transmembrane domain	227	249	N/A	INTRINSIC
transmembrane domain	269	288	N/A	INTRINSIC
Pfam:DUF1736	292	366	4.4e-36	PFAM
transmembrane domain	386	408	N/A	INTRINSIC
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	442	464	N/A	INTRINSIC
TPR	482	515	2.49e-5	SMART
TPR	516	549	9.03e-3	SMART
TPR	550	583	2.49e-5	SMART
TPR	584	617	2.63e-4	SMART
TPR	618	651	5.78e-1	SMART
TPR	652	685	2.19e-1	SMART
TPR	686	719	1.37e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000148661

SMART Domains

Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	174	191	N/A	INTRINSIC
transmembrane domain	201	220	N/A	INTRINSIC
transmembrane domain	227	249	N/A	INTRINSIC
transmembrane domain	269	288	N/A	INTRINSIC
Pfam:DUF1736	292	366	4.4e-36	PFAM
transmembrane domain	386	408	N/A	INTRINSIC
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	442	464	N/A	INTRINSIC
TPR	482	515	2.49e-5	SMART
TPR	516	549	9.03e-3	SMART
TPR	550	583	2.49e-5	SMART
TPR	584	617	2.63e-4	SMART
TPR	618	651	5.78e-1	SMART
TPR	652	685	2.19e-1	SMART
TPR	686	719	1.37e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161599

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228661

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1s1	A	G	7: 44,853,939	D180G	probably damaging	Het
Aldh1a7	A	T	19: 20,696,398	Y457*	probably null	Het
Alpk3	C	T	7: 81,078,390	P423S	possibly damaging	Het
Aox2	A	T	1: 58,334,678		probably null	Het
Crebbp	T	C	16: 4,096,102	T1316A	probably benign	Het
Cul3	C	A	1: 80,283,690	V273F	probably damaging	Het
Dnah1	G	T	14: 31,307,028	R582S	probably benign	Het
Fbxl2	T	C	9: 114,003,193	N51S	probably damaging	Het
Gapvd1	T	C	2: 34,728,476	D295G	probably benign	Het
Gdf7	A	G	12: 8,298,845	S151P	unknown	Het
Gm10277	T	C	11: 77,786,001		probably benign	Het
Hdac4	T	C	1: 91,970,968	E688G	possibly damaging	Het
Htr1d	A	G	4: 136,443,237	E259G	probably benign	Het
Ifi204	T	C	1: 173,749,208	H609R	possibly damaging	Het
Ift80	T	C	3: 68,917,999	D541G	probably damaging	Het
Il18r1	A	T	1: 40,474,874	H80L	possibly damaging	Het
Lrp4	G	A	2: 91,473,949	G158S	probably damaging	Het
Mesd	T	A	7: 83,897,785	L152H	probably damaging	Het
Morf4l1	A	T	9: 90,094,448	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mut	G	A	17: 40,955,139	C531Y	probably damaging	Het
Myo15	A	G	11: 60,504,319	T2480A	probably benign	Het
Olfr1284	C	A	2: 111,379,637	F212L	probably benign	Het
Olfr1317	T	C	2: 112,142,014	I23T	probably benign	Het
Olfr1387	G	A	11: 49,459,939	G87R	possibly damaging	Het
Olfr180	A	G	16: 58,916,339	F101L	probably benign	Het
Olfr437	A	T	6: 43,167,258	I67F	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Ovgp1	A	G	3: 105,986,596		probably benign	Het
Pcbp4	A	T	9: 106,461,371	Q59L	possibly damaging	Het
Prg4	G	C	1: 150,454,759		probably benign	Het
Rad50	T	A	11: 53,678,870	I905L	probably benign	Het
Rp1l1	T	C	14: 64,029,307	S781P	probably benign	Het
Rps3	C	T	7: 99,479,896	R173H	probably benign	Het
Rtn3	T	A	19: 7,435,085	T86S	probably damaging	Het
Sdha	A	T	13: 74,334,391	S268T	probably benign	Het
Sgo2b	A	T	8: 63,928,733	V355E	possibly damaging	Het
Sh3glb2	T	C	2: 30,355,288	T60A	probably damaging	Het
Slc26a3	A	C	12: 31,464,720	Y513S	probably damaging	Het
Slc35b2	T	C	17: 45,566,442	V165A	probably benign	Het
Slco3a1	A	G	7: 74,284,613	W604R	probably damaging	Het
Tet2	A	G	3: 133,469,477	S1370P	possibly damaging	Het
Tsga13	A	G	6: 30,912,263	V18A	probably benign	Het
Ugt2a3	T	C	5: 87,329,590	T317A	probably benign	Het
Zcchc4	A	T	5: 52,784,100	D79V	probably damaging	Het

Other mutations in Tmtc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Tmtc4	APN	14	122925954	splice site	probably benign
IGL01408:Tmtc4	APN	14	122925954	splice site	probably benign
IGL01487:Tmtc4	APN	14	122926031	missense	probably benign	0.25
IGL01694:Tmtc4	APN	14	122973212	missense	possibly damaging	0.92
IGL01934:Tmtc4	APN	14	122927635	nonsense	probably null
IGL02456:Tmtc4	APN	14	122925962	critical splice donor site	probably null
IGL03116:Tmtc4	APN	14	122927632	missense	probably benign	0.02
IGL03326:Tmtc4	APN	14	122945540	missense	probably damaging	0.99
PIT4403001:Tmtc4	UTSW	14	122973229	missense	probably benign	0.01
R0344:Tmtc4	UTSW	14	122978160	missense	probably damaging	1.00
R0630:Tmtc4	UTSW	14	122926090	splice site	probably benign
R0849:Tmtc4	UTSW	14	122945554	missense	possibly damaging	0.62
R1129:Tmtc4	UTSW	14	122943153	critical splice donor site	probably null
R1601:Tmtc4	UTSW	14	122944826	missense	probably benign	0.01
R1835:Tmtc4	UTSW	14	122941988	critical splice acceptor site	probably null
R1966:Tmtc4	UTSW	14	122927599	missense	probably benign	0.31
R2024:Tmtc4	UTSW	14	122921265	missense	probably benign	0.02
R2025:Tmtc4	UTSW	14	122921265	missense	probably benign	0.02
R2026:Tmtc4	UTSW	14	122921265	missense	probably benign	0.02
R2027:Tmtc4	UTSW	14	122921265	missense	probably benign	0.02
R2256:Tmtc4	UTSW	14	122941408	missense	probably benign	0.09
R2439:Tmtc4	UTSW	14	122971903	missense	probably damaging	1.00
R3001:Tmtc4	UTSW	14	122932818	critical splice donor site	probably null
R3002:Tmtc4	UTSW	14	122932818	critical splice donor site	probably null
R4561:Tmtc4	UTSW	14	122963298	missense	probably benign	0.21
R4926:Tmtc4	UTSW	14	122973206	missense	probably damaging	1.00
R5000:Tmtc4	UTSW	14	122933331	missense	possibly damaging	0.46
R5024:Tmtc4	UTSW	14	122941302	splice site	probably null
R5104:Tmtc4	UTSW	14	122932845	missense	probably damaging	0.99
R5200:Tmtc4	UTSW	14	122945557	missense	probably benign	0.05
R5536:Tmtc4	UTSW	14	122932879	missense	probably benign	0.09
R5677:Tmtc4	UTSW	14	122950499	missense	probably damaging	1.00
R5768:Tmtc4	UTSW	14	122933153	missense	possibly damaging	0.91
R6467:Tmtc4	UTSW	14	122925979	missense	possibly damaging	0.80
R7317:Tmtc4	UTSW	14	122978181	missense	probably benign	0.00
R7516:Tmtc4	UTSW	14	122943323	missense	possibly damaging	0.68
R7539:Tmtc4	UTSW	14	122978289	splice site	probably null
R7584:Tmtc4	UTSW	14	122978151	missense	probably benign	0.01
R7821:Tmtc4	UTSW	14	122971877	missense	probably benign
R7903:Tmtc4	UTSW	14	122927648	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACAGGGTCAGTATAGGTTACC -3'
(R):5'- GGTAGAGCTTACAGGCTTTGC -3'

Sequencing Primer
(F):5'- GGTCAGTATAGGTTACCTTTTAAACG -3'
(R):5'- GCCATCCCCTCTCTCTGG -3'

Posted On

2015-04-17