Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01075:Ttc4'

50859

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc4

Ensembl Gene

ENSMUSG00000025413

Gene Name

tetratricopeptide repeat domain 4

Synonyms

L62, 2810002P21Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL01075

Quality Score

Status

Chromosome

Chromosomal Location

106519453-106536141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106528845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 209 (I209M)

Ref Sequence

ENSEMBL: ENSMUSP00000116620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026480] [ENSMUST00000106772] [ENSMUST00000135676]

AlphaFold

Q8R3H9

Predicted Effect

probably benign
Transcript: ENSMUST00000026480
AA Change: I190M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026480
Gene: ENSMUSG00000025413
AA Change: I190M

Domain	Start	End	E-Value	Type
TPR	79	112	1.26e1	SMART
TPR	117	150	7.27e0	SMART
TPR	151	184	3.07e1	SMART
low complexity region	235	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106772
AA Change: I190M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102384
Gene: ENSMUSG00000025413
AA Change: I190M

Domain	Start	End	E-Value	Type
TPR	79	112	1.26e1	SMART
TPR	117	150	7.27e0	SMART
TPR	151	184	3.07e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132650

Predicted Effect

probably benign
Transcript: ENSMUST00000135676
AA Change: I209M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116620
Gene: ENSMUSG00000025413
AA Change: I209M

Domain	Start	End	E-Value	Type
Pfam:TPR_11	77	148	1.1e-14	PFAM
Pfam:TPR_1	79	109	8.2e-5	PFAM
Pfam:TPR_2	79	110	1.2e-3	PFAM
Blast:TPR	173	203	1e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142342

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,862,924 (GRCm39)	T700A	possibly damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Chd3	T	C	11: 69,250,791 (GRCm39)	D646G	probably damaging	Het
Esf1	A	G	2: 139,962,665 (GRCm39)	V802A	probably benign	Het
Hdac6	T	C	X: 7,802,691 (GRCm39)		probably null	Het
Il1rap	A	C	16: 26,498,987 (GRCm39)	N162T	possibly damaging	Het
Mpdu1	T	C	11: 69,548,151 (GRCm39)	T208A	probably damaging	Het
Mrpl51	T	C	6: 125,169,566 (GRCm39)	V56A	probably benign	Het
Myadm	A	C	7: 3,345,762 (GRCm39)	T175P	probably damaging	Het
Nek1	C	A	8: 61,577,166 (GRCm39)	T1077K	possibly damaging	Het
Or5w20	A	G	2: 87,727,265 (GRCm39)	T249A	probably benign	Het
Pcnt	G	A	10: 76,258,738 (GRCm39)	Q576*	probably null	Het
Pramel26	T	C	4: 143,538,216 (GRCm39)	T252A	possibly damaging	Het
Tchhl1	A	T	3: 93,377,623 (GRCm39)	D109V	probably damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tns3	G	A	11: 8,428,399 (GRCm39)	P848S	probably benign	Het
Zfp536	A	T	7: 37,267,315 (GRCm39)	S700R	probably damaging	Het

Other mutations in Ttc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Ttc4	APN	4	106,520,360 (GRCm39)	missense	probably damaging	1.00
IGL01825:Ttc4	APN	4	106,528,816 (GRCm39)	splice site	probably null
IGL02221:Ttc4	APN	4	106,533,793 (GRCm39)	critical splice donor site	probably null
IGL03333:Ttc4	APN	4	106,533,828 (GRCm39)	missense	probably benign	0.19
IGL03385:Ttc4	APN	4	106,525,397 (GRCm39)	missense	probably benign	0.00
R0398:Ttc4	UTSW	4	106,524,770 (GRCm39)	splice site	probably null
R1300:Ttc4	UTSW	4	106,524,763 (GRCm39)	missense	probably damaging	1.00
R4250:Ttc4	UTSW	4	106,522,880 (GRCm39)	missense	probably damaging	0.96
R5047:Ttc4	UTSW	4	106,525,435 (GRCm39)	missense	probably damaging	1.00
R5911:Ttc4	UTSW	4	106,525,240 (GRCm39)	missense	probably damaging	0.96
R7313:Ttc4	UTSW	4	106,536,017 (GRCm39)	missense	possibly damaging	0.54
R7874:Ttc4	UTSW	4	106,522,881 (GRCm39)	missense	probably benign	0.40
R8341:Ttc4	UTSW	4	106,522,893 (GRCm39)	missense	probably benign
R9311:Ttc4	UTSW	4	106,535,963 (GRCm39)	missense	probably benign	0.03
R9689:Ttc4	UTSW	4	106,528,919 (GRCm39)	missense	probably benign
Z1177:Ttc4	UTSW	4	106,525,367 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21