Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01017:Ttc9'

53912

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc9

Ensembl Gene

ENSMUSG00000042734

Gene Name

tetratricopeptide repeat domain 9

Synonyms

1700029M07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL01017

Quality Score

Status

Chromosome

Chromosomal Location

81678023-81714331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81678536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 120 (V120I)

Ref Sequence

ENSEMBL: ENSMUSP00000152038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036116] [ENSMUST00000218362]

AlphaFold

Q3V038

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036116
AA Change: V120I

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048590
Gene: ENSMUSG00000042734
AA Change: V120I

Domain	Start	End	E-Value	Type
low complexity region	16	38	N/A	INTRINSIC
TPR	56	89	7.69e1	SMART
TPR	125	160	7.89e1	SMART
TPR	161	194	6.05e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218362
AA Change: V120I

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that contains three tetratricopeptide repeats. The human gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous KO adult females display increased body, thymus and spleen weights and improved mammary development and sensitivity to estrogen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	G	A	5: 88,607,218 (GRCm39)	A29T	probably damaging	Het
Ankrd11	T	C	8: 123,621,467 (GRCm39)	K795R	probably damaging	Het
Atg3	T	C	16: 45,004,174 (GRCm39)		probably null	Het
Ccdc169	T	C	3: 55,078,739 (GRCm39)	V200A	possibly damaging	Het
Cdr2l	C	A	11: 115,283,564 (GRCm39)	Q141K	probably damaging	Het
Cts3	T	A	13: 61,715,988 (GRCm39)	I93F	probably damaging	Het
Eif2ak2	A	G	17: 79,171,287 (GRCm39)	L372S	probably damaging	Het
Elovl5	T	C	9: 77,888,853 (GRCm39)	I240T	possibly damaging	Het
Farp1	C	T	14: 121,510,186 (GRCm39)	A728V	possibly damaging	Het
Fbln1	A	G	15: 85,128,390 (GRCm39)	D529G	possibly damaging	Het
Flnb	G	T	14: 7,917,390 (GRCm38)		probably benign	Het
Gm14401	A	T	2: 176,778,625 (GRCm39)	H237L	probably damaging	Het
Hivep3	T	A	4: 119,956,443 (GRCm39)	H1586Q	probably damaging	Het
Igkv12-98	T	A	6: 68,548,093 (GRCm39)	L74*	probably null	Het
Iigp1c	T	A	18: 60,378,508 (GRCm39)	D14E	possibly damaging	Het
Ktn1	T	C	14: 47,946,335 (GRCm39)	S917P	probably benign	Het
Lama3	T	C	18: 12,574,200 (GRCm39)		probably null	Het
Lamb1	A	G	12: 31,351,063 (GRCm39)	D723G	possibly damaging	Het
Lrrc39	A	T	3: 116,364,500 (GRCm39)	R130S	probably benign	Het
Mcm3	A	C	1: 20,875,039 (GRCm39)		probably null	Het
Muc19	T	G	15: 91,764,901 (GRCm39)		noncoding transcript	Het
Necap2	A	G	4: 140,794,879 (GRCm39)	F266S	probably damaging	Het
Nfil3	C	T	13: 53,122,055 (GRCm39)	G283D	probably damaging	Het
Nlrp4e	A	T	7: 23,021,092 (GRCm39)	K526N	possibly damaging	Het
Or13a20	A	G	7: 140,232,389 (GRCm39)	T166A	probably benign	Het
Or4p7	T	A	2: 88,222,245 (GRCm39)	V218E	possibly damaging	Het
Pelp1	G	A	11: 70,287,720 (GRCm39)	R401W	probably damaging	Het
Phldb3	G	T	7: 24,328,295 (GRCm39)	C613F	probably damaging	Het
Ppp1ca	T	C	19: 4,243,110 (GRCm39)	Y93H	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,476 (GRCm39)	E105G	probably benign	Het
Prb1a	G	T	6: 132,184,194 (GRCm39)	Q480K	unknown	Het
Ryr1	A	T	7: 28,781,968 (GRCm39)	I2007N	probably damaging	Het
Scgb1b27	A	G	7: 33,721,228 (GRCm39)	T39A	probably damaging	Het
Serpinb3b	T	C	1: 107,082,187 (GRCm39)	D359G	probably benign	Het
Sgo2b	G	T	8: 64,379,557 (GRCm39)	R1092S	probably benign	Het
Sh3pxd2b	C	A	11: 32,353,993 (GRCm39)	S187*	probably null	Het
Slc11a1	T	A	1: 74,418,955 (GRCm39)	L92H	probably damaging	Het
Smc3	T	C	19: 53,617,758 (GRCm39)	V585A	probably damaging	Het
Sp6	A	G	11: 96,913,429 (GRCm39)		probably benign	Het
Spata16	A	T	3: 26,894,871 (GRCm39)	I307F	possibly damaging	Het
Tfpi2	T	A	6: 3,965,359 (GRCm39)	H33L	probably benign	Het
Tnxb	T	A	17: 34,912,782 (GRCm39)	D1642E	probably damaging	Het
Ttc1	T	C	11: 43,621,320 (GRCm39)	N287S	probably damaging	Het
Umps	A	G	16: 33,787,272 (GRCm39)	V27A	probably damaging	Het
Usp50	C	A	2: 126,551,334 (GRCm39)	M48I	probably damaging	Het
Vmn1r76	A	T	7: 11,664,309 (GRCm39)	C267S	possibly damaging	Het
Wee1	A	T	7: 109,725,055 (GRCm39)	D275V	possibly damaging	Het
Zmym6	C	T	4: 126,982,152 (GRCm39)	P63L	probably benign	Het

Other mutations in Ttc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02366:Ttc9	APN	12	81,678,384 (GRCm39)	missense	possibly damaging	0.92
R0494:Ttc9	UTSW	12	81,678,423 (GRCm39)	missense	probably damaging	1.00
R1892:Ttc9	UTSW	12	81,678,551 (GRCm39)	missense	probably benign
R2069:Ttc9	UTSW	12	81,678,570 (GRCm39)	missense	probably damaging	1.00
R4679:Ttc9	UTSW	12	81,678,375 (GRCm39)	missense	probably damaging	0.99
R5828:Ttc9	UTSW	12	81,678,450 (GRCm39)	missense	probably benign	0.01
R5876:Ttc9	UTSW	12	81,678,396 (GRCm39)	missense	probably damaging	1.00
R8200:Ttc9	UTSW	12	81,707,435 (GRCm39)	missense	probably damaging	1.00
R8675:Ttc9	UTSW	12	81,707,379 (GRCm39)	missense	probably damaging	1.00
R9626:Ttc9	UTSW	12	81,710,301 (GRCm39)	missense	probably benign	0.00

Posted On

2013-06-28