Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02809:Ttc32'

360520

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc32

Ensembl Gene

ENSMUSG00000066637

Gene Name

tetratricopeptide repeat domain 32

Synonyms

1700013G20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02809

Quality Score

Status

Chromosome

Chromosomal Location

9079997-9086394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9085879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 142 (R142Q)

Ref Sequence

ENSEMBL: ENSMUSP00000082891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085741] [ENSMUST00000219470] [ENSMUST00000219488]

AlphaFold

Q9DAC7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085741
AA Change: R142Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000082891
Gene: ENSMUSG00000066637
AA Change: R142Q

Domain	Start	End	E-Value	Type
Pfam:TPR_9	12	58	1.2e-2	PFAM
Pfam:TPR_12	51	121	1e-9	PFAM
Pfam:TPR_11	53	120	1.2e-14	PFAM
Pfam:TPR_1	55	88	3.5e-6	PFAM
Pfam:TPR_9	70	134	4.9e-7	PFAM
Pfam:TPR_1	90	122	1e-10	PFAM
Pfam:TPR_2	91	122	8.3e-11	PFAM
Pfam:TPR_8	91	122	2.5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219470

Predicted Effect

probably benign
Transcript: ENSMUST00000219488

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Camkmt	A	T	17: 85,702,076 (GRCm39)	N180I	probably damaging	Het
Card9	A	G	2: 26,246,876 (GRCm39)	M324T	probably benign	Het
Cenpf	T	C	1: 189,414,555 (GRCm39)		probably benign	Het
Cerkl	A	G	2: 79,172,546 (GRCm39)	S349P	possibly damaging	Het
Ctsj	C	T	13: 61,150,974 (GRCm39)	S162N	probably damaging	Het
Fancm	A	G	12: 65,168,441 (GRCm39)	I1601M	possibly damaging	Het
Fpr-rs3	T	A	17: 20,844,225 (GRCm39)	R305S	probably damaging	Het
Gpatch8	A	G	11: 102,378,416 (GRCm39)	V178A	unknown	Het
Itga4	A	G	2: 79,110,921 (GRCm39)	Y253C	probably damaging	Het
Kntc1	T	C	5: 123,914,645 (GRCm39)	F655S	probably damaging	Het
Manba	A	G	3: 135,253,321 (GRCm39)	D414G	probably damaging	Het
Nfkbid	C	T	7: 30,124,660 (GRCm39)	T7I	possibly damaging	Het
Ngly1	G	T	14: 16,281,791 (GRCm38)	C349F	probably damaging	Het
Palld	T	C	8: 61,968,281 (GRCm39)	N1095S	probably damaging	Het
Sp100	C	T	1: 85,608,845 (GRCm39)	R325W	probably damaging	Het
Stxbp4	A	G	11: 90,491,010 (GRCm39)		probably null	Het
Tle2	C	A	10: 81,422,196 (GRCm39)		probably null	Het
Tlr13	G	T	X: 105,200,297 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,928,553 (GRCm39)	T526M	probably damaging	Het
Uggt2	T	C	14: 119,328,150 (GRCm39)	E124G	probably benign	Het
Vmn1r72	A	G	7: 11,403,930 (GRCm39)	F173L	probably benign	Het
Xab2	T	C	8: 3,660,175 (GRCm39)	S851G	probably benign	Het
Zfp808	A	G	13: 62,320,994 (GRCm39)	K741R	probably benign	Het

Other mutations in Ttc32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Ttc32	APN	12	9,084,953 (GRCm39)	missense	probably damaging	1.00
R0012:Ttc32	UTSW	12	9,085,897 (GRCm39)	missense	possibly damaging	0.96
R1769:Ttc32	UTSW	12	9,085,073 (GRCm39)	missense	possibly damaging	0.85
R5888:Ttc32	UTSW	12	9,085,870 (GRCm39)	missense	possibly damaging	0.53
R7787:Ttc32	UTSW	12	9,088,083 (GRCm39)	missense	probably benign	0.00
R8061:Ttc32	UTSW	12	9,084,953 (GRCm39)	missense	probably damaging	1.00
R8884:Ttc32	UTSW	12	9,088,083 (GRCm39)	missense	probably benign	0.00
R8968:Ttc32	UTSW	12	9,080,187 (GRCm39)	missense	probably benign
Z1176:Ttc32	UTSW	12	9,085,089 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18