Mutagenetix > Incidental Mutation

Incidental Mutation 'R7669:Ttc5'

592064

Institutional Source

Beutler Lab

Gene Symbol

Ttc5

Ensembl Gene

ENSMUSG00000006288

Gene Name

tetratricopeptide repeat domain 5

Synonyms

MMRRC Submission

045741-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

R7669 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51002872-51022976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51014787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 160 (H160R)

Ref Sequence

ENSEMBL: ENSMUSP00000006451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006451] [ENSMUST00000226768] [ENSMUST00000228440]

AlphaFold

Q99LG4

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000006451
AA Change: H160R

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

SMART Domains

Protein: ENSMUSP00000006451
Gene: ENSMUSG00000006288
AA Change: H160R

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

probably benign
Transcript: ENSMUST00000226768
AA Change: H160R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000228440
AA Change: H160R

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	T	17: 45,831,221 (GRCm39)	P930S	probably benign	Het
Ada	T	A	2: 163,570,111 (GRCm39)	K301*	probably null	Het
Alb	T	C	5: 90,611,850 (GRCm39)	L93P	possibly damaging	Het
Aldh1l1	G	A	6: 90,547,844 (GRCm39)	G435S	probably benign	Het
Alox12b	A	T	11: 69,060,167 (GRCm39)	I627F	probably benign	Het
Aloxe3	A	G	11: 69,025,946 (GRCm39)	I503V	probably benign	Het
Arhgap29	C	T	3: 121,786,461 (GRCm39)	A342V	probably damaging	Het
BC024139	G	A	15: 76,004,768 (GRCm39)	P636L	possibly damaging	Het
Bmp6	G	T	13: 38,668,896 (GRCm39)	R293L	probably damaging	Het
Cfd	G	A	10: 79,727,447 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,967,273 (GRCm39)	A3197T	probably damaging	Het
Flii	G	A	11: 60,613,490 (GRCm39)	L166F	probably damaging	Het
Fmn1	T	A	2: 113,195,822 (GRCm39)	N507K	unknown	Het
Foxe1	C	A	4: 46,344,545 (GRCm39)	R118S	possibly damaging	Het
Fras1	T	C	5: 96,840,483 (GRCm39)	V1646A	probably benign	Het
Gm14496	A	G	2: 181,637,711 (GRCm39)	T262A	possibly damaging	Het
Gpbp1	A	T	13: 111,575,658 (GRCm39)	S282T	probably benign	Het
Gria4	A	T	9: 4,462,029 (GRCm39)	N641K	probably damaging	Het
Grin2a	T	G	16: 9,810,327 (GRCm39)	N24T	probably benign	Het
Gstm2	T	G	3: 107,892,992 (GRCm39)	D40A	probably benign	Het
Heatr1	T	A	13: 12,426,143 (GRCm39)	I657N	probably benign	Het
Kmt2b	T	C	7: 30,282,656 (GRCm39)	E1102G	possibly damaging	Het
Macroh2a1	T	C	13: 56,276,146 (GRCm39)	Y39C	probably damaging	Het
Mgam	T	A	6: 40,635,944 (GRCm39)	N366K	probably benign	Het
Mier2	A	T	10: 79,385,510 (GRCm39)	V35E	probably damaging	Het
Mlxipl	T	C	5: 135,161,224 (GRCm39)	F381S	possibly damaging	Het
Mroh1	A	G	15: 76,336,048 (GRCm39)	H1474R	possibly damaging	Het
Mtrf1l	G	T	10: 5,765,620 (GRCm39)	A239E	probably damaging	Het
Nbea	G	T	3: 55,625,200 (GRCm39)	A2297E	probably damaging	Het
Nectin4	A	G	1: 171,207,827 (GRCm39)	E73G	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Nfia	G	A	4: 97,671,742 (GRCm39)	V151I	probably damaging	Het
Nol6	A	G	4: 41,118,717 (GRCm39)	L720P	probably damaging	Het
Or6c203	A	G	10: 129,010,128 (GRCm39)	F254S	probably damaging	Het
Or7e165	A	G	9: 19,694,839 (GRCm39)	N137D	possibly damaging	Het
Patj	A	G	4: 98,407,179 (GRCm39)	E1054G	probably damaging	Het
Pcnx1	A	G	12: 82,037,325 (GRCm39)	D1861G	probably damaging	Het
Prss12	A	G	3: 123,241,045 (GRCm39)	T80A	probably benign	Het
Scart2	A	G	7: 139,876,234 (GRCm39)	S569G	possibly damaging	Het
Sgsm1	C	A	5: 113,400,890 (GRCm39)	R1000L	probably damaging	Het
Sulf2	T	C	2: 165,935,516 (GRCm39)	D199G	possibly damaging	Het
Suox	T	C	10: 128,506,780 (GRCm39)	D416G	probably benign	Het
Syne1	G	A	10: 5,011,531 (GRCm39)	T38M	probably damaging	Het
Tcf7l2	T	A	19: 55,912,975 (GRCm39)	C421*	probably null	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Traf7	C	A	17: 24,732,282 (GRCm39)	G143*	probably null	Het
Trappc12	T	C	12: 28,761,957 (GRCm39)	I544V	probably benign	Het
Trmt1	G	A	8: 85,424,180 (GRCm39)	V434I	probably benign	Het
Xirp2	T	A	2: 67,342,521 (GRCm39)	H1587Q	probably benign	Het
Zfp523	C	T	17: 28,420,015 (GRCm39)	T220M	probably damaging	Het
Zfp804b	A	T	5: 6,819,362 (GRCm39)	S1234T	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
R0667: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
R7712:Ttc5	UTSW	14	51,010,769 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGATGGCCTCAAGTCAGAC -3'
(R):5'- GTTTGGCCTAGGTGAGAAGAAC -3'

Sequencing Primer
(F):5'- AGTCAGACAACACAGCTGG -3'
(R):5'- TTGGCCTAGGTGAGAAGAACATTTG -3'

Posted On

2019-11-12