Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01380:Tmtc4'

278324

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 #

IGL01380

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,840,053 (GRCm39)	T42A	probably benign	Het
Abcc10	C	A	17: 46,634,948 (GRCm39)	V352L	possibly damaging	Het
Ankrd44	A	T	1: 54,766,724 (GRCm39)	M488K	probably benign	Het
Ano8	A	G	8: 71,933,453 (GRCm39)		probably benign	Het
Atp2a1	T	A	7: 126,047,942 (GRCm39)	M623L	possibly damaging	Het
Atxn10	G	T	15: 85,260,896 (GRCm39)	E214*	probably null	Het
Btla	A	C	16: 45,070,716 (GRCm39)	D225A	probably benign	Het
C030048H21Rik	G	A	2: 26,146,659 (GRCm39)	Q1218*	probably null	Het
Cacna1a	A	G	8: 85,285,746 (GRCm39)	Y750C	probably damaging	Het
Ccdc15	A	T	9: 37,187,853 (GRCm39)		probably benign	Het
Ccdc18	T	A	5: 108,328,753 (GRCm39)	I724N	probably damaging	Het
Cluh	T	A	11: 74,556,772 (GRCm39)	F937L	probably benign	Het
Clybl	G	T	14: 122,616,761 (GRCm39)	A259S	probably benign	Het
Cyp4f39	T	G	17: 32,700,832 (GRCm39)	I167S	probably damaging	Het
Dchs1	T	A	7: 105,411,418 (GRCm39)	D1566V	probably damaging	Het
Dnah3	C	T	7: 119,525,787 (GRCm39)	A3867T	probably damaging	Het
Dtwd1	T	A	2: 126,001,847 (GRCm39)	L189Q	probably benign	Het
Dusp10	T	C	1: 183,801,211 (GRCm39)	I326T	possibly damaging	Het
Eaf1	T	A	14: 31,219,767 (GRCm39)		probably benign	Het
Eif3c	C	T	7: 126,163,585 (GRCm39)		probably benign	Het
Fam169a	C	T	13: 97,228,459 (GRCm39)	T44M	probably damaging	Het
Fam184a	T	C	10: 53,570,782 (GRCm39)		probably benign	Het
Fam25a	C	T	14: 34,075,655 (GRCm39)	A46T	probably null	Het
Gckr	A	G	5: 31,456,977 (GRCm39)		probably benign	Het
Gfra2	G	T	14: 71,204,586 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,703 (GRCm38)		probably null	Het
H2-Eb2	G	T	17: 34,554,783 (GRCm39)	L228F	probably benign	Het
Igf2r	T	C	17: 12,914,261 (GRCm39)	N1736S	probably benign	Het
Izumo1	T	G	7: 45,276,519 (GRCm39)	S361A	probably benign	Het
Klri1	T	C	6: 129,675,761 (GRCm39)	I170V	probably benign	Het
L3mbtl2	C	T	15: 81,555,326 (GRCm39)	A193V	possibly damaging	Het
Lats1	T	A	10: 7,567,544 (GRCm39)	M105K	possibly damaging	Het
Lrpprc	T	C	17: 85,030,158 (GRCm39)	D1080G	probably benign	Het
Lrrc74a	A	T	12: 86,808,496 (GRCm39)	M425L	possibly damaging	Het
Mfsd13a	G	T	19: 46,356,347 (GRCm39)	D151Y	probably damaging	Het
Mst1	G	A	9: 107,961,787 (GRCm39)	E640K	probably damaging	Het
Napsa	T	C	7: 44,236,098 (GRCm39)	V379A	probably damaging	Het
Or1e16	A	T	11: 73,286,017 (GRCm39)	M277K	probably damaging	Het
Or55b4	C	T	7: 102,133,592 (GRCm39)	C245Y	probably damaging	Het
Or7c19	C	A	8: 85,957,775 (GRCm39)	S217Y	probably damaging	Het
Or7c19	A	T	8: 85,957,958 (GRCm39)	Y278F	possibly damaging	Het
Otop3	T	C	11: 115,237,237 (GRCm39)	V567A	probably damaging	Het
Oxsr1	A	T	9: 119,089,167 (GRCm39)		probably benign	Het
Pak2	A	T	16: 31,860,362 (GRCm39)	V167E	probably benign	Het
Pcdhb16	A	G	18: 37,612,498 (GRCm39)	H486R	probably benign	Het
Plekha5	C	T	6: 140,516,042 (GRCm39)		probably benign	Het
Rbm6	T	C	9: 107,665,548 (GRCm39)	D616G	probably damaging	Het
Sf3b1	T	C	1: 55,027,108 (GRCm39)	Y1249C	probably damaging	Het
Sipa1l3	T	C	7: 29,030,797 (GRCm39)	H534R	possibly damaging	Het
Slco1c1	T	C	6: 141,485,777 (GRCm39)	Y136H	probably damaging	Het
Smarca4	A	G	9: 21,590,369 (GRCm39)	M1333V	probably benign	Het
Smc4	A	G	3: 68,933,161 (GRCm39)	D54G	probably damaging	Het
Spag5	T	A	11: 78,195,443 (GRCm39)	V250E	possibly damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Suv39h2	T	A	2: 3,465,296 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,968,005 (GRCm39)	H63L	probably damaging	Het
Tex2	G	A	11: 106,435,141 (GRCm39)	Q264*	probably null	Het
Thnsl2	A	C	6: 71,115,740 (GRCm39)	S156A	probably benign	Het
Usp25	T	C	16: 76,890,566 (GRCm39)	L758P	probably benign	Het
Zfyve1	G	A	12: 83,599,281 (GRCm39)	R144C	probably damaging	Het
Zpld1	A	G	16: 55,072,133 (GRCm39)	V42A	probably damaging	Het

Other mutations in Tmtc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01408: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