Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01408:Tmtc4'

278421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmtc4

Ensembl Gene

ENSMUSG00000041594

Gene Name

transmembrane and tetratricopeptide repeat containing 4

Synonyms

4930403J22Rik, 5730419O14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01408

Quality Score

Status

Chromosome

Chromosomal Location

123156383-123220697 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 123163366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121523 (fasta)

Gene Model

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

AlphaFold

Q8BG19

Predicted Effect

probably benign
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 benign
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 benign
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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530068E07Rik	A	G	11: 52,294,193 (GRCm39)	R145G	probably damaging	Het
Akr1c21	T	A	13: 4,627,431 (GRCm39)	M175K	probably benign	Het
Apol7a	C	T	15: 77,273,530 (GRCm39)	A311T	probably damaging	Het
Atxn10	G	T	15: 85,260,896 (GRCm39)	E214*	probably null	Het
Bmp2k	C	T	5: 97,234,823 (GRCm39)	Q749*	probably null	Het
Ccdc141	G	A	2: 76,876,023 (GRCm39)	A669V	probably benign	Het
Cndp2	A	C	18: 84,689,036 (GRCm39)	C249G	probably benign	Het
Cnr1	A	G	4: 33,944,802 (GRCm39)	I397V	possibly damaging	Het
Col19a1	T	C	1: 24,345,331 (GRCm39)		probably benign	Het
Dbn1	T	C	13: 55,630,117 (GRCm39)		probably benign	Het
Dmgdh	C	T	13: 93,845,803 (GRCm39)	P486S	probably damaging	Het
Dpys	A	G	15: 39,656,702 (GRCm39)	V455A	possibly damaging	Het
Farp2	A	G	1: 93,546,702 (GRCm39)	N907S	probably benign	Het
Fndc3c1	C	T	X: 105,476,378 (GRCm39)	E894K	probably benign	Het
Gm6685	A	T	11: 28,289,473 (GRCm39)	N114K	probably damaging	Het
Golga3	A	T	5: 110,365,675 (GRCm39)		probably null	Het
Grin2c	A	G	11: 115,151,708 (GRCm39)	L84P	probably damaging	Het
Gucy2c	A	G	6: 136,675,009 (GRCm39)	F1001L	probably benign	Het
Hcn4	A	G	9: 58,767,169 (GRCm39)	H910R	unknown	Het
Kdm4b	T	C	17: 56,660,518 (GRCm39)		probably benign	Het
Lrrfip2	A	G	9: 111,043,284 (GRCm39)	T497A	probably benign	Het
Man2c1	A	G	9: 57,048,884 (GRCm39)	Y924C	probably damaging	Het
Nkain2	T	A	10: 32,278,237 (GRCm39)	T63S	probably damaging	Het
Nlrp1a	T	A	11: 71,013,742 (GRCm39)	T503S	probably benign	Het
Or52n3	T	C	7: 104,530,037 (GRCm39)	V41A	probably benign	Het
Or52n4	T	A	7: 104,294,136 (GRCm39)	I146F	possibly damaging	Het
Pitrm1	T	A	13: 6,623,078 (GRCm39)	C780S	probably damaging	Het
Plekha5	C	T	6: 140,516,042 (GRCm39)		probably benign	Het
Rapgef4	C	T	2: 72,005,185 (GRCm39)	R193*	probably null	Het
Rbm20	A	G	19: 53,840,044 (GRCm39)	E1011G	possibly damaging	Het
Rfx3	A	T	19: 27,746,050 (GRCm39)	D685E	probably benign	Het
Ror1	T	C	4: 100,190,984 (GRCm39)	S114P	probably damaging	Het
Slc17a6	A	G	7: 51,318,863 (GRCm39)	K502E	probably benign	Het
Spink2	A	T	5: 77,359,174 (GRCm39)		probably benign	Het
Sptb	A	T	12: 76,659,921 (GRCm39)	I993N	possibly damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tes	A	T	6: 17,099,878 (GRCm39)	Y291F	probably damaging	Het
Trpa1	T	C	1: 14,959,637 (GRCm39)	E683G	probably benign	Het
Vmn2r73	T	C	7: 85,521,455 (GRCm39)	D171G	probably benign	Het
Wbp11	A	G	6: 136,791,612 (GRCm39)		probably benign	Het
Wfdc12	A	G	2: 164,031,581 (GRCm39)	*86R	probably null	Het
Zfp281	T	C	1: 136,553,853 (GRCm39)	V277A	probably damaging	Het

Other mutations in Tmtc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Tmtc4	APN	14	123,163,366 (GRCm39)	splice site	probably benign
IGL01487:Tmtc4	APN	14	123,163,443 (GRCm39)	missense	probably benign	0.25
IGL01694:Tmtc4	APN	14	123,210,624 (GRCm39)	missense	possibly damaging	0.92
IGL01934:Tmtc4	APN	14	123,165,047 (GRCm39)	nonsense	probably null
IGL02456:Tmtc4	APN	14	123,163,374 (GRCm39)	critical splice donor site	probably null
IGL03116:Tmtc4	APN	14	123,165,044 (GRCm39)	missense	probably benign	0.02
IGL03326:Tmtc4	APN	14	123,182,952 (GRCm39)	missense	probably damaging	0.99
PIT4403001:Tmtc4	UTSW	14	123,210,641 (GRCm39)	missense	probably benign	0.01
R0344:Tmtc4	UTSW	14	123,215,572 (GRCm39)	missense	probably damaging	1.00
R0630:Tmtc4	UTSW	14	123,163,502 (GRCm39)	splice site	probably benign
R0849:Tmtc4	UTSW	14	123,182,966 (GRCm39)	missense	possibly damaging	0.62
R1129:Tmtc4	UTSW	14	123,180,565 (GRCm39)	critical splice donor site	probably null
R1601:Tmtc4	UTSW	14	123,182,238 (GRCm39)	missense	probably benign	0.01
R1835:Tmtc4	UTSW	14	123,179,400 (GRCm39)	critical splice acceptor site	probably null
R1966:Tmtc4	UTSW	14	123,165,011 (GRCm39)	missense	probably benign	0.31
R2024:Tmtc4	UTSW	14	123,158,677 (GRCm39)	missense	probably benign	0.02
R2025:Tmtc4	UTSW	14	123,158,677 (GRCm39)	missense	probably benign	0.02
R2026:Tmtc4	UTSW	14	123,158,677 (GRCm39)	missense	probably benign	0.02
R2027:Tmtc4	UTSW	14	123,158,677 (GRCm39)	missense	probably benign	0.02
R2256:Tmtc4	UTSW	14	123,178,820 (GRCm39)	missense	probably benign	0.09
R2439:Tmtc4	UTSW	14	123,209,315 (GRCm39)	missense	probably damaging	1.00
R3001:Tmtc4	UTSW	14	123,170,230 (GRCm39)	critical splice donor site	probably null
R3002:Tmtc4	UTSW	14	123,170,230 (GRCm39)	critical splice donor site	probably null
R3894:Tmtc4	UTSW	14	123,158,731 (GRCm39)	splice site	probably null
R4561:Tmtc4	UTSW	14	123,200,710 (GRCm39)	missense	probably benign	0.21
R4926:Tmtc4	UTSW	14	123,210,618 (GRCm39)	missense	probably damaging	1.00
R5000:Tmtc4	UTSW	14	123,170,743 (GRCm39)	missense	possibly damaging	0.46
R5024:Tmtc4	UTSW	14	123,178,714 (GRCm39)	splice site	probably null
R5104:Tmtc4	UTSW	14	123,170,257 (GRCm39)	missense	probably damaging	0.99
R5200:Tmtc4	UTSW	14	123,182,969 (GRCm39)	missense	probably benign	0.05
R5536:Tmtc4	UTSW	14	123,170,291 (GRCm39)	missense	probably benign	0.09
R5677:Tmtc4	UTSW	14	123,187,911 (GRCm39)	missense	probably damaging	1.00
R5768:Tmtc4	UTSW	14	123,170,565 (GRCm39)	missense	possibly damaging	0.91
R6467:Tmtc4	UTSW	14	123,163,391 (GRCm39)	missense	possibly damaging	0.80
R7317:Tmtc4	UTSW	14	123,215,593 (GRCm39)	missense	probably benign	0.00
R7516:Tmtc4	UTSW	14	123,180,735 (GRCm39)	missense	possibly damaging	0.68
R7539:Tmtc4	UTSW	14	123,215,701 (GRCm39)	splice site	probably null
R7584:Tmtc4	UTSW	14	123,215,563 (GRCm39)	missense	probably benign	0.01
R7821:Tmtc4	UTSW	14	123,209,289 (GRCm39)	missense	probably benign
R7903:Tmtc4	UTSW	14	123,165,060 (GRCm39)	missense	probably benign	0.00
R8969:Tmtc4	UTSW	14	123,179,224 (GRCm39)	splice site	probably benign
R9239:Tmtc4	UTSW	14	123,165,078 (GRCm39)	missense	possibly damaging	0.81
R9381:Tmtc4	UTSW	14	123,163,441 (GRCm39)	missense	probably benign	0.00
R9513:Tmtc4	UTSW	14	123,209,204 (GRCm39)	missense	probably benign	0.01
R9581:Tmtc4	UTSW	14	123,187,998 (GRCm39)	missense	probably benign
R9592:Tmtc4	UTSW	14	123,170,815 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16