Mutagenetix > Incidental Mutation

Incidental Mutation 'R0667:Ttc5'

218557

Institutional Source

Beutler Lab

Gene Symbol

Ttc5

Ensembl Gene

ENSMUSG00000006288

Gene Name

tetratricopeptide repeat domain 5

Synonyms

MMRRC Submission

038852-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R0667 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

51002872-51022976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51003415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 423 (Q423L)

Ref Sequence

ENSEMBL: ENSMUSP00000006451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006451] [ENSMUST00000227751]

AlphaFold

Q99LG4

PDB Structure

Crystal structure of full length mouse Strap (TTC5) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000006451
AA Change: Q423L

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000006451
Gene: ENSMUSG00000006288
AA Change: Q423L

Domain	Start	End	E-Value	Type
Pfam:TPR_2	103	136	1.6e-5	PFAM
Blast:TPR	224	257	2e-8	BLAST
low complexity region	261	280	N/A	INTRINSIC
Pfam:TTC5_OB	318	432	3.3e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000080330

Predicted Effect

probably benign
Transcript: ENSMUST00000227751

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	T	11: 110,218,637 (GRCm39)	N76K	probably benign	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Atad2	A	G	15: 57,962,115 (GRCm39)	S1143P	probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Cand1	A	G	10: 119,052,425 (GRCm39)	S234P	probably benign	Het
Cd200	T	A	16: 45,215,220 (GRCm39)	I144L	probably benign	Het
Cep76	A	T	18: 67,767,848 (GRCm39)	L228Q	possibly damaging	Het
Col12a1	A	G	9: 79,535,744 (GRCm39)	L2584S	probably damaging	Het
Col6a3	A	C	1: 90,755,823 (GRCm39)	D155E	probably damaging	Het
Col6a4	G	A	9: 105,907,158 (GRCm39)		probably benign	Het
Dsg2	A	C	18: 20,706,556 (GRCm39)	D24A	possibly damaging	Het
Gm5901	G	A	7: 105,026,697 (GRCm39)	S155N	possibly damaging	Het
Hkdc1	T	C	10: 62,247,644 (GRCm39)		probably benign	Het
Kansl1	A	G	11: 104,234,364 (GRCm39)	V714A	probably benign	Het
Kcnh1	T	A	1: 192,188,346 (GRCm39)	S936T	probably benign	Het
Klhdc3	A	T	17: 46,988,151 (GRCm39)	F205I	probably benign	Het
Krt31	T	A	11: 99,938,951 (GRCm39)	H290L	probably benign	Het
Lama2	T	A	10: 27,220,406 (GRCm39)		probably null	Het
Mep1a	T	G	17: 43,789,081 (GRCm39)	D565A	probably benign	Het
Mgme1	T	A	2: 144,120,907 (GRCm39)		probably benign	Het
Mtf2	C	T	5: 108,252,369 (GRCm39)	T409I	probably damaging	Het
Mylk3	A	G	8: 86,081,794 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,559,338 (GRCm39)	E650G	probably damaging	Het
Nipbl	A	C	15: 8,390,488 (GRCm39)	D260E	possibly damaging	Het
Nufip2	T	A	11: 77,582,839 (GRCm39)	V251D	possibly damaging	Het
Or2n1e	C	A	17: 38,586,048 (GRCm39)	P129T	probably damaging	Het
Or4a2	T	C	2: 89,248,032 (GRCm39)	I242V	probably benign	Het
Or7g35	T	A	9: 19,496,743 (GRCm39)	N303K	probably benign	Het
Osm	G	T	11: 4,189,918 (GRCm39)	R234L	possibly damaging	Het
Pabpc1	G	A	15: 36,598,275 (GRCm39)	A515V	probably benign	Het
Piwil1	T	A	5: 128,818,542 (GRCm39)		probably null	Het
Pld1	A	G	3: 28,133,327 (GRCm39)		probably null	Het
Plekhg3	C	T	12: 76,623,372 (GRCm39)	R871C	probably damaging	Het
Ppfia2	A	T	10: 106,749,555 (GRCm39)	Y1147F	probably damaging	Het
Prmt3	A	G	7: 49,441,743 (GRCm39)	Y240C	probably damaging	Het
Prr36	G	T	8: 4,266,311 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 75,875,583 (GRCm39)	I908T	probably damaging	Het
Sae1	A	T	7: 16,102,457 (GRCm39)	N172K	probably damaging	Het
Satb1	T	G	17: 52,089,889 (GRCm39)	Q319H	probably damaging	Het
Scart2	C	G	7: 139,841,450 (GRCm39)	S251R	possibly damaging	Het
Scn2a	A	T	2: 65,582,340 (GRCm39)	I1563F	possibly damaging	Het
Scn3a	C	A	2: 65,314,755 (GRCm39)	R1102L	probably null	Het
Serpinb9b	T	A	13: 33,216,909 (GRCm39)	L60*	probably null	Het
Setd1a	A	G	7: 127,385,765 (GRCm39)	D281G	probably damaging	Het
Slc8a1	C	A	17: 81,956,310 (GRCm39)	V243F	probably damaging	Het
Tgfbr3	A	T	5: 107,325,716 (GRCm39)	H115Q	probably benign	Het
Tiam1	C	A	16: 89,694,872 (GRCm39)	S195I	probably damaging	Het
Tjp2	A	G	19: 24,086,113 (GRCm39)	V803A	probably benign	Het
Tyk2	A	C	9: 21,020,167 (GRCm39)	V997G	probably damaging	Het
Uhrf1	T	C	17: 56,617,677 (GRCm39)	V133A	probably benign	Het
Vmn2r107	A	C	17: 20,575,916 (GRCm39)	Y82S	possibly damaging	Het
Vmn2r93	T	C	17: 18,546,503 (GRCm39)	F792L	probably damaging	Het
Vps13c	G	A	9: 67,858,855 (GRCm39)	W2768*	probably null	Het
Zfp456	A	T	13: 67,514,861 (GRCm39)	C282S	probably benign	Het
Zhx1	T	C	15: 57,916,561 (GRCm39)	N562D	possibly damaging	Het
Zmynd15	G	T	11: 70,355,944 (GRCm39)	G481C	probably damaging	Het

Other mutations in Ttc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03398:Ttc5	APN	14	51,018,964 (GRCm39)	missense	possibly damaging	0.73
R0665:Ttc5	UTSW	14	51,003,415 (GRCm39)	missense	probably benign	0.17
R1125:Ttc5	UTSW	14	51,015,335 (GRCm39)	missense	probably damaging	1.00
R1186:Ttc5	UTSW	14	51,004,683 (GRCm39)	nonsense	probably null
R2011:Ttc5	UTSW	14	51,019,007 (GRCm39)	nonsense	probably null
R2119:Ttc5	UTSW	14	51,012,822 (GRCm39)	missense	probably damaging	1.00
R4394:Ttc5	UTSW	14	51,018,962 (GRCm39)	missense	probably benign	0.01
R6050:Ttc5	UTSW	14	51,010,744 (GRCm39)	missense	probably damaging	1.00
R6059:Ttc5	UTSW	14	51,015,303 (GRCm39)	missense	probably damaging	0.97
R6329:Ttc5	UTSW	14	51,003,385 (GRCm39)	missense	possibly damaging	0.94
R6451:Ttc5	UTSW	14	51,004,664 (GRCm39)	missense	probably damaging	0.99
R6612:Ttc5	UTSW	14	51,022,926 (GRCm39)	splice site	probably null
R7311:Ttc5	UTSW	14	51,003,400 (GRCm39)	missense	probably damaging	1.00
R7669:Ttc5	UTSW	14	51,014,787 (GRCm39)	missense	probably benign	0.00
R7712:Ttc5	UTSW	14	51,010,769 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCTCTGAAGAGGGCTGGAATAC -3'
(R):5'- TGGCTGCTGTTTCTAAAACCCCTG -3'

Sequencing Primer
(F):5'- GGGCTGGAATACAGCAGG -3'
(R):5'- CCTTCTTGAATGAGGGAACAGTC -3'

Posted On

2014-08-18