Mutagenetix > Incidental Mutation

Incidental Mutation 'R6603:Ttc34'

525436

Institutional Source

Beutler Lab

Gene Symbol

Ttc34

Ensembl Gene

ENSMUSG00000046637

Gene Name

tetratricopeptide repeat domain 34

Synonyms

B230396O12Rik

MMRRC Submission

044726-MU

Accession Numbers

Essential gene?

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

Stock #

R6603 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154921916-154951584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154923762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 157 (I157K)

Ref Sequence

ENSEMBL: ENSMUSP00000146409 (fasta)

Gene Model

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

AlphaFold

Q8C0Q3

Predicted Effect

probably benign
Transcript: ENSMUST00000207854
AA Change: I157K

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,155,518 (GRCm39)	F167Y	possibly damaging	Het
Ap3d1	A	G	10: 80,549,881 (GRCm39)	S755P	probably benign	Het
Aph1a	A	T	3: 95,802,808 (GRCm39)	N136I	probably damaging	Het
AU040320	T	A	4: 126,686,046 (GRCm39)	N207K	probably benign	Het
Caprin1	A	T	2: 103,605,856 (GRCm39)	D377E	probably benign	Het
Col18a1	A	G	10: 76,899,811 (GRCm39)		probably null	Het
Ddi2	T	C	4: 141,411,181 (GRCm39)	N577S	probably damaging	Het
Dip2c	T	A	13: 9,704,624 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,648,240 (GRCm39)		probably null	Het
Fam13a	T	C	6: 58,964,174 (GRCm39)	K86R	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxl8	A	T	8: 105,994,842 (GRCm39)	D118V	probably damaging	Het
Garin5b	G	A	7: 4,761,431 (GRCm39)	P427L	possibly damaging	Het
Git2	C	A	5: 114,869,052 (GRCm39)		probably null	Het
Gm17190	T	G	13: 96,218,770 (GRCm39)	D35E	possibly damaging	Het
Gnb4	C	T	3: 32,639,295 (GRCm39)	D333N	probably damaging	Het
Has2	T	A	15: 56,531,968 (GRCm39)	D249V	probably damaging	Het
Ighv1-23	A	G	12: 114,728,141 (GRCm39)	S94P	probably damaging	Het
Itpr2	A	G	6: 146,248,669 (GRCm39)	I1029T	probably damaging	Het
Kctd16	T	C	18: 40,391,544 (GRCm39)	I44T	probably benign	Het
Kpna1	A	G	16: 35,849,890 (GRCm39)		probably null	Het
Lonrf1	T	A	8: 36,690,095 (GRCm39)	R654S	probably damaging	Het
Lrrc49	A	C	9: 60,501,052 (GRCm39)		probably null	Het
Miip	T	G	4: 147,950,380 (GRCm39)	K72T	possibly damaging	Het
Mink1	C	T	11: 70,500,419 (GRCm39)	P782S	probably damaging	Het
Mpped2	A	G	2: 106,697,322 (GRCm39)	T266A	probably benign	Het
Naip1	G	A	13: 100,559,578 (GRCm39)	S1142F	probably benign	Het
Naip1	C	T	13: 100,559,666 (GRCm39)	G1113S	probably benign	Het
Nbr1	A	G	11: 101,446,931 (GRCm39)		probably benign	Het
Necab3	A	T	2: 154,396,842 (GRCm39)	N46K	probably damaging	Het
Or51a8	A	T	7: 102,549,621 (GRCm39)	I16F	probably benign	Het
Phtf1	C	T	3: 103,901,189 (GRCm39)	R360C	probably damaging	Het
Plcl2	A	G	17: 50,914,145 (GRCm39)	I385V	probably benign	Het
Prmt8	A	T	6: 127,706,376 (GRCm39)	F138L	probably benign	Het
Prpf40a	T	G	2: 53,042,975 (GRCm39)	R436S	probably damaging	Het
Rab27b	T	A	18: 70,118,375 (GRCm39)	I181F	probably damaging	Het
Rasgrf1	A	G	9: 89,792,310 (GRCm39)	E87G	probably damaging	Het
Scrib	T	A	15: 75,934,572 (GRCm39)	T674S	probably benign	Het
Slc9a4	A	G	1: 40,662,664 (GRCm39)	S644G	probably benign	Het
Slc9a9	G	A	9: 94,821,599 (GRCm39)	A329T	probably damaging	Het
Smc4	T	C	3: 68,929,794 (GRCm39)		probably null	Het
Sox7	T	A	14: 64,185,637 (GRCm39)	H224Q	probably benign	Het
Spata31	T	C	13: 65,070,479 (GRCm39)	S876P	probably damaging	Het
Syndig1	G	A	2: 149,845,208 (GRCm39)	V244M	probably damaging	Het
Tas2r113	A	T	6: 132,870,421 (GRCm39)	I150L	probably benign	Het
Tasor	A	G	14: 27,168,343 (GRCm39)	Y295C	probably damaging	Het
Tmem59l	G	A	8: 70,939,006 (GRCm39)	P56L	probably benign	Het
Tnfrsf8	A	T	4: 145,019,168 (GRCm39)	D222E	possibly damaging	Het
Trim52	T	C	14: 106,344,483 (GRCm39)	L47P	probably damaging	Het
Txndc16	A	G	14: 45,389,224 (GRCm39)	F492S	probably damaging	Het
Ubr4	A	G	4: 139,182,897 (GRCm39)	I428V	probably benign	Het
Vmn2r41	T	A	7: 8,141,359 (GRCm39)	I702F	probably damaging	Het
Wdr12	T	A	1: 60,121,783 (GRCm39)	H256L	probably damaging	Het
Xirp2	A	G	2: 67,346,888 (GRCm39)	H3043R	probably benign	Het
Xrcc1	C	T	7: 24,270,459 (GRCm39)	Q500*	probably null	Het
Zfp583	T	C	7: 6,328,475 (GRCm39)	N38S	probably damaging	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
IGL03034:Ttc34	APN	4	154,945,640 (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
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

Predicted Primers

PCR Primer
(F):5'- GGACAGCCAAATCCCTGCTATC -3'
(R):5'- AATCCTCAAACCGGCCTCTG -3'

Sequencing Primer
(F):5'- AAATCCCTGCTATCCACTGGG -3'
(R):5'- AGCAGAGCTTCCGGTGACATG -3'

Posted On

2018-06-22