Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02115:Ttc39a'

280360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc39a

Ensembl Gene

ENSMUSG00000028555

Gene Name

tetratricopeptide repeat domain 39A

Synonyms

4922503N01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02115

Quality Score

Status

Chromosome

Chromosomal Location

109263820-109301942 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 109283491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064129] [ENSMUST00000106618] [ENSMUST00000106619] [ENSMUST00000124209] [ENSMUST00000139237] [ENSMUST00000153315]

AlphaFold

A2ACP1

Predicted Effect

probably benign
Transcript: ENSMUST00000064129

SMART Domains

Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555

Domain	Start	End	E-Value	Type
TPR	278	311	7.69e1	SMART
TPR	468	501	6.57e1	SMART
TPR	509	542	1.42e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106618

SMART Domains

Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555

Domain	Start	End	E-Value	Type
TPR	280	313	7.69e1	SMART
TPR	470	503	6.57e1	SMART
TPR	511	544	1.42e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106619

SMART Domains

Protein: ENSMUSP00000102230
Gene: ENSMUSG00000028555

Domain	Start	End	E-Value	Type
Pfam:DUF3808	27	143	1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124209

SMART Domains

Protein: ENSMUSP00000118672
Gene: ENSMUSG00000028555

Domain	Start	End	E-Value	Type
Pfam:DUF3808	1	137	6.6e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126797

Predicted Effect

probably benign
Transcript: ENSMUST00000139237

SMART Domains

Protein: ENSMUSP00000121779
Gene: ENSMUSG00000028555

Domain	Start	End	E-Value	Type
Pfam:DUF3808	1	109	7.2e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150909

Predicted Effect

probably benign
Transcript: ENSMUST00000153315

SMART Domains

Protein: ENSMUSP00000117621
Gene: ENSMUSG00000028555

Domain	Start	End	E-Value	Type
Pfam:DUF3808	1	160	2.6e-53	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	A	T	7: 124,930,781 (GRCm39)		noncoding transcript	Het
Abca7	A	T	10: 79,833,913 (GRCm39)	N76Y	probably damaging	Het
Apob	A	G	12: 8,042,923 (GRCm39)	K755R	probably benign	Het
BC034090	A	T	1: 155,108,397 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,680,635 (GRCm39)	T632A	probably benign	Het
Cdcp1	C	A	9: 123,014,462 (GRCm39)	C104F	probably damaging	Het
Cfap206	C	T	4: 34,722,623 (GRCm39)	V153I	possibly damaging	Het
Chd1l	A	T	3: 97,497,220 (GRCm39)		probably null	Het
Ckb	A	G	12: 111,636,415 (GRCm39)	F271L	possibly damaging	Het
Col6a3	T	A	1: 90,735,373 (GRCm39)	I759L	probably damaging	Het
Ddr2	A	T	1: 169,822,278 (GRCm39)	M390K	probably benign	Het
Dhx8	C	T	11: 101,643,214 (GRCm39)	P762L	probably damaging	Het
Dnah3	A	T	7: 119,628,277 (GRCm39)	V1449E	probably damaging	Het
Dzip3	T	C	16: 48,768,848 (GRCm39)	I629M	probably benign	Het
Ep300	T	C	15: 81,533,019 (GRCm39)	I1692T	unknown	Het
Ercc6	T	A	14: 32,298,950 (GRCm39)	L1446Q	probably damaging	Het
Gm10092	T	C	16: 35,957,993 (GRCm39)		noncoding transcript	Het
Gm6900	A	T	7: 10,390,503 (GRCm39)		noncoding transcript	Het
Gpr149	T	C	3: 62,502,336 (GRCm39)	T507A	probably benign	Het
Hmcn1	T	A	1: 150,506,479 (GRCm39)	D3776V	probably damaging	Het
Irgm2	A	G	11: 58,110,948 (GRCm39)	E225G	probably benign	Het
Kif14	T	C	1: 136,424,305 (GRCm39)		probably benign	Het
Klhl22	T	C	16: 17,594,459 (GRCm39)	V196A	probably damaging	Het
Lig4	T	C	8: 10,023,247 (GRCm39)	S178G	possibly damaging	Het
Lzts2	A	G	19: 45,014,809 (GRCm39)		probably benign	Het
Mcoln3	C	T	3: 145,843,056 (GRCm39)	S380L	probably damaging	Het
Med12l	A	T	3: 58,975,740 (GRCm39)	T223S	probably benign	Het
Mrpl54	A	G	10: 81,101,483 (GRCm39)		probably null	Het
Myo1c	A	T	11: 75,552,417 (GRCm39)	I397F	probably damaging	Het
Nbas	A	T	12: 13,367,693 (GRCm39)		probably benign	Het
Ncoa2	G	A	1: 13,223,041 (GRCm39)	H1195Y	probably damaging	Het
Nol3	A	G	8: 106,006,263 (GRCm39)	M171V	probably benign	Het
Or2l5	A	T	16: 19,333,853 (GRCm39)	C178S	probably damaging	Het
Or52s1	A	G	7: 102,861,681 (GRCm39)	T194A	probably damaging	Het
Pdpr	C	T	8: 111,830,630 (GRCm39)	L107F	probably damaging	Het
Ppfibp2	G	A	7: 107,338,525 (GRCm39)		probably benign	Het
Rusc2	T	C	4: 43,426,136 (GRCm39)		probably benign	Het
Sdk2	G	T	11: 113,725,639 (GRCm39)		probably benign	Het
Sema7a	T	C	9: 57,868,183 (GRCm39)	C539R	probably damaging	Het
Senp6	T	C	9: 80,029,208 (GRCm39)	C524R	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Slc15a1	A	T	14: 121,718,073 (GRCm39)	Y269N	possibly damaging	Het
Synj2	T	A	17: 6,067,865 (GRCm39)	Y113N	probably damaging	Het
Tm6sf1	A	T	7: 81,525,551 (GRCm39)	Y172F	probably damaging	Het
Trpv4	T	C	5: 114,763,090 (GRCm39)	D773G	probably damaging	Het
Tut1	C	T	19: 8,942,676 (GRCm39)	R588W	probably damaging	Het
Unc79	A	T	12: 102,964,933 (GRCm39)	Y74F	probably damaging	Het
Usp53	A	T	3: 122,741,039 (GRCm39)	I737K	probably benign	Het
Vmn2r67	A	T	7: 84,800,787 (GRCm39)	M383K	probably damaging	Het
Zc3h4	A	G	7: 16,159,708 (GRCm39)	D426G	unknown	Het
Zfp622	A	G	15: 25,987,286 (GRCm39)	N308S	probably damaging	Het

Other mutations in Ttc39a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Ttc39a	APN	4	109,299,542 (GRCm39)	splice site	probably benign
IGL01143:Ttc39a	APN	4	109,300,010 (GRCm39)	critical splice donor site	probably null
IGL01802:Ttc39a	APN	4	109,290,281 (GRCm39)	nonsense	probably null
IGL01906:Ttc39a	APN	4	109,278,591 (GRCm39)	missense	probably benign	0.04
IGL02415:Ttc39a	APN	4	109,288,726 (GRCm39)	unclassified	probably benign
IGL02658:Ttc39a	APN	4	109,280,090 (GRCm39)	missense	probably damaging	1.00
IGL02728:Ttc39a	APN	4	109,299,920 (GRCm39)	missense	probably damaging	1.00
IGL03281:Ttc39a	APN	4	109,290,219 (GRCm39)	missense	possibly damaging	0.84
R0030:Ttc39a	UTSW	4	109,280,170 (GRCm39)	missense	probably benign
R0103:Ttc39a	UTSW	4	109,278,650 (GRCm39)	splice site	probably null
R0194:Ttc39a	UTSW	4	109,301,376 (GRCm39)	missense	probably benign
R0561:Ttc39a	UTSW	4	109,297,799 (GRCm39)	missense	probably damaging	1.00
R0603:Ttc39a	UTSW	4	109,283,499 (GRCm39)	missense	probably damaging	1.00
R2132:Ttc39a	UTSW	4	109,299,903 (GRCm39)	missense	probably damaging	1.00
R2203:Ttc39a	UTSW	4	109,288,785 (GRCm39)	missense	probably benign	0.19
R2473:Ttc39a	UTSW	4	109,299,436 (GRCm39)	missense	probably damaging	0.97
R4449:Ttc39a	UTSW	4	109,299,500 (GRCm39)	missense	possibly damaging	0.82
R4809:Ttc39a	UTSW	4	109,273,218 (GRCm39)	nonsense	probably null
R5266:Ttc39a	UTSW	4	109,279,701 (GRCm39)	missense	probably benign	0.04
R5590:Ttc39a	UTSW	4	109,290,184 (GRCm39)	critical splice acceptor site	probably null
R5911:Ttc39a	UTSW	4	109,280,168 (GRCm39)	missense	possibly damaging	0.79
R5930:Ttc39a	UTSW	4	109,288,075 (GRCm39)	missense	probably benign
R7058:Ttc39a	UTSW	4	109,288,763 (GRCm39)	missense	probably damaging	1.00
R7771:Ttc39a	UTSW	4	109,288,647 (GRCm39)	missense	probably damaging	1.00
R7791:Ttc39a	UTSW	4	109,283,544 (GRCm39)	missense	probably benign	0.00
R7849:Ttc39a	UTSW	4	109,279,687 (GRCm39)	missense	probably benign	0.00
R8687:Ttc39a	UTSW	4	109,288,776 (GRCm39)	missense	probably damaging	0.97
R8723:Ttc39a	UTSW	4	109,300,700 (GRCm39)	splice site	probably benign
R9037:Ttc39a	UTSW	4	109,299,981 (GRCm39)	missense	probably damaging	1.00
R9626:Ttc39a	UTSW	4	109,278,570 (GRCm39)	missense	possibly damaging	0.83
X0013:Ttc39a	UTSW	4	109,290,334 (GRCm39)	missense	probably benign	0.02
Z1177:Ttc39a	UTSW	4	109,288,129 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16