Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03034:Ttc34'

408580

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc34

Ensembl Gene

ENSMUSG00000046637

Gene Name

tetratricopeptide repeat domain 34

Synonyms

B230396O12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL03034

Quality Score

Status

Chromosome

Chromosomal Location

154921916-154951584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154945640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 734 (S734P)

Ref Sequence

ENSEMBL: ENSMUSP00000146409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050220] [ENSMUST00000207854]

AlphaFold

Q8C0Q3

Predicted Effect

probably damaging
Transcript: ENSMUST00000050220
AA Change: S225P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051782
Gene: ENSMUSG00000046637
AA Change: S225P

Domain	Start	End	E-Value	Type
Blast:TPR	38	68	4e-6	BLAST
low complexity region	69	85	N/A	INTRINSIC
TPR	166	199	2.66e0	SMART
TPR	200	233	4.45e-2	SMART
TPR	294	327	9e1	SMART
Blast:TPR	328	361	2e-7	BLAST
TPR	412	445	8.77e1	SMART
TPR	452	485	1.78e-1	SMART
Blast:TPR	500	533	9e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138795

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151696

Predicted Effect

probably damaging
Transcript: ENSMUST00000207854
AA Change: S734P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	C	T	11: 81,780,908 (GRCm39)		probably benign	Het
Ablim2	A	G	5: 35,985,509 (GRCm39)	T269A	probably benign	Het
Asgr2	G	T	11: 69,989,089 (GRCm39)	G178W	probably damaging	Het
Chtf18	A	G	17: 25,946,320 (GRCm39)		probably benign	Het
Cnmd	C	T	14: 79,879,368 (GRCm39)	A257T	probably benign	Het
Cox7a1	A	G	7: 29,884,693 (GRCm39)		probably benign	Het
Cpox	C	T	16: 58,495,718 (GRCm39)	T345M	probably damaging	Het
Crisp1	T	C	17: 40,618,619 (GRCm39)	T81A	probably benign	Het
Dcc	T	A	18: 71,708,214 (GRCm39)	R501*	probably null	Het
Dlx6	A	C	6: 6,863,807 (GRCm39)	Q143P	probably benign	Het
Dpp10	T	A	1: 123,269,348 (GRCm39)	Y687F	probably damaging	Het
Eif2b1	A	G	5: 124,709,894 (GRCm39)	V228A	probably benign	Het
Enpep	T	C	3: 129,092,599 (GRCm39)	D528G	probably damaging	Het
Fbxo6	G	A	4: 148,230,579 (GRCm39)	Q228*	probably null	Het
Iars1	T	A	13: 49,843,965 (GRCm39)	N146K	possibly damaging	Het
Kctd9	T	A	14: 67,971,728 (GRCm39)	S268T	probably benign	Het
Kifap3	G	A	1: 163,715,846 (GRCm39)	V749M	probably benign	Het
Mdm4	T	C	1: 132,938,809 (GRCm39)	D94G	probably damaging	Het
Mllt10	T	G	2: 18,069,847 (GRCm39)	M1R	probably null	Het
Mtcl1	T	C	17: 66,651,193 (GRCm39)	Y1424C	probably damaging	Het
Mybpc2	A	T	7: 44,161,321 (GRCm39)	I549N	possibly damaging	Het
Myocd	T	C	11: 65,109,511 (GRCm39)	T87A	probably benign	Het
Nr3c2	T	G	8: 77,914,267 (GRCm39)	Y824*	probably null	Het
Omg	T	A	11: 79,392,947 (GRCm39)	T304S	possibly damaging	Het
Or4b1	A	G	2: 89,980,177 (GRCm39)	Y58H	probably damaging	Het
Or52p2	G	A	7: 102,237,147 (GRCm39)	H268Y	probably benign	Het
Or5an1b	T	C	19: 12,300,018 (GRCm39)	T58A	possibly damaging	Het
Or5b97	T	C	19: 12,879,121 (GRCm39)	T8A	possibly damaging	Het
Or6c2	A	T	10: 129,362,527 (GRCm39)	I144F	probably benign	Het
Pde3a	G	A	6: 141,438,126 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,469,252 (GRCm39)	K129E	probably damaging	Het
Phka2	G	T	X: 159,360,546 (GRCm39)	E858*	probably null	Het
Pp2d1	T	C	17: 53,815,081 (GRCm39)	T548A	possibly damaging	Het
Prr14l	G	A	5: 32,984,782 (GRCm39)	A1571V	possibly damaging	Het
Rbms3	A	G	9: 117,080,879 (GRCm39)		probably benign	Het
Sparcl1	T	C	5: 104,241,103 (GRCm39)	E107G	probably damaging	Het
Stra6l	A	G	4: 45,885,392 (GRCm39)	D620G	probably benign	Het
Traf3ip2	A	T	10: 39,502,215 (GRCm39)	K121I	probably damaging	Het
Zfp953	C	T	13: 67,491,526 (GRCm39)	C142Y	probably damaging	Het
Zfp955b	T	A	17: 33,521,142 (GRCm39)	C204S	probably benign	Het

Other mutations in Ttc34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03000:Ttc34	APN	4	154,949,888 (GRCm39)	missense	probably damaging	1.00
IGL03139:Ttc34	APN	4	154,945,727 (GRCm39)	missense	probably benign	0.04
R1205:Ttc34	UTSW	4	154,946,671 (GRCm39)	missense	probably benign	0.01
R1775:Ttc34	UTSW	4	154,946,671 (GRCm39)	missense	probably benign	0.00
R1935:Ttc34	UTSW	4	154,950,139 (GRCm39)	missense	possibly damaging	0.80
R1936:Ttc34	UTSW	4	154,950,139 (GRCm39)	missense	possibly damaging	0.80
R1937:Ttc34	UTSW	4	154,950,139 (GRCm39)	missense	possibly damaging	0.80
R1939:Ttc34	UTSW	4	154,950,139 (GRCm39)	missense	possibly damaging	0.80
R1940:Ttc34	UTSW	4	154,950,139 (GRCm39)	missense	possibly damaging	0.80
R3701:Ttc34	UTSW	4	154,949,939 (GRCm39)	missense	probably damaging	1.00
R5181:Ttc34	UTSW	4	154,946,703 (GRCm39)	missense	probably benign	0.00
R5845:Ttc34	UTSW	4	154,949,929 (GRCm39)	missense	probably benign	0.08
R6603:Ttc34	UTSW	4	154,923,762 (GRCm39)	missense	probably benign	0.34
R6930:Ttc34	UTSW	4	154,923,543 (GRCm39)	missense	probably damaging	0.99
R7209:Ttc34	UTSW	4	154,923,585 (GRCm39)	missense	probably damaging	1.00
R7548:Ttc34	UTSW	4	154,940,816 (GRCm39)	missense	probably damaging	1.00
R7640:Ttc34	UTSW	4	154,945,841 (GRCm39)	missense	probably benign
R7727:Ttc34	UTSW	4	154,923,731 (GRCm39)	missense	possibly damaging	0.81
R7856:Ttc34	UTSW	4	154,945,743 (GRCm39)	missense	probably benign
R7893:Ttc34	UTSW	4	154,945,757 (GRCm39)	missense	probably benign	0.05
R7894:Ttc34	UTSW	4	154,943,840 (GRCm39)	missense	probably damaging	1.00
R7982:Ttc34	UTSW	4	154,945,875 (GRCm39)	missense	possibly damaging	0.89
R9462:Ttc34	UTSW	4	154,942,539 (GRCm39)	missense	probably damaging	1.00
Z1177:Ttc34	UTSW	4	154,949,854 (GRCm39)	missense	possibly damaging	0.73

Posted On

2016-08-02