Mutagenetix > Incidental Mutations

Incidental Mutation 'R1129:Tmtc4'

96513

Institutional Source

Beutler Lab

Gene Symbol

Tmtc4

Ensembl Gene

ENSMUSG00000041594

Gene Name

transmembrane and tetratricopeptide repeat containing 4

Synonyms

MMRRC Submission

039202-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1129 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122918971-122984035 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 122943153 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037726] [ENSMUST00000126867] [ENSMUST00000126867] [ENSMUST00000128969] [ENSMUST00000143189] [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

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: ENSMUST00000128969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135917

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

noncoding transcript
Transcript: ENSMUST00000227430

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	G	C	2: 180,172,919		probably benign	Het
Bub1b	A	T	2: 118,615,006	D269V	probably damaging	Het
Ccdc73	A	G	2: 104,992,190	N828S	possibly damaging	Het
Cdk12	T	C	11: 98,245,375	S1152P	unknown	Het
Cnnm3	T	C	1: 36,513,016	L369P	probably damaging	Het
Cxadr	A	G	16: 78,336,433	K360R	probably benign	Het
Dlg2	G	A	7: 92,431,174		probably null	Het
Dst	T	C	1: 34,199,554	V3779A	probably benign	Het
Fbxo16	G	A	14: 65,295,532	R161K	probably benign	Het
Gm9726	T	A	12: 93,928,526		noncoding transcript	Het
Hectd4	A	G	5: 121,310,599	T337A	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Ints1	A	G	5: 139,758,471	L1510S	probably benign	Het
Kansl2	T	C	15: 98,533,581	Y63C	probably damaging	Het
Lats2	T	C	14: 57,700,333	E233G	possibly damaging	Het
Naca	T	C	10: 128,040,202		probably benign	Het
Pprc1	G	T	19: 46,063,806	A591S	probably benign	Het
Sbsn	C	T	7: 30,753,440	P627S	probably benign	Het
Sema6b	T	C	17: 56,124,347	E772G	probably benign	Het
Tmem33	A	G	5: 67,264,460		probably null	Het
Ubqlnl	A	T	7: 104,149,650	H213Q	probably damaging	Het
Ugt1a10	T	C	1: 88,055,609	M43T	probably benign	Het
Vmn2r68	T	C	7: 85,237,504		probably null	Het
Zcchc14	A	G	8: 121,608,415		probably benign	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
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
R3894:Tmtc4	UTSW	14	122921319	splice 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'- TGAAGCCATAGATTCCTACCTTGTTGC -3'
(R):5'- AGAAGCTTATGAATGCCTCGGAAGTG -3'

Sequencing Primer
(F):5'- ACCTTGTTGCTGCCATAAATTCAG -3'
(R):5'- CTTTTGACTGACAGGCCATAAAC -3'

Posted On

2014-01-05