Mutagenetix > Incidental Mutation

Incidental Mutation 'R0113:Ttc1'

20597

Institutional Source

Beutler Lab

Gene Symbol

Ttc1

Ensembl Gene

ENSMUSG00000041278

Gene Name

tetratricopeptide repeat domain 1

Synonyms

4833412C19Rik, TPR1

MMRRC Submission

038399-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R0113 (G1)

Quality Score

204

Status

Validated (trace)

Chromosome

Chromosomal Location

43620833-43638835 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43636115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 43 (S43G)

Ref Sequence

ENSEMBL: ENSMUSP00000104901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048578] [ENSMUST00000109278]

AlphaFold

Q91Z38

Predicted Effect

probably benign
Transcript: ENSMUST00000048578
AA Change: S43G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000040779
Gene: ENSMUSG00000041278
AA Change: S43G

Domain	Start	End	E-Value	Type
low complexity region	85	101	N/A	INTRINSIC
TPR	116	149	9.39e-1	SMART
TPR	155	188	1.23e-4	SMART
TPR	189	222	7.06e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109278
AA Change: S43G

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104901
Gene: ENSMUSG00000041278
AA Change: S43G

Domain	Start	End	E-Value	Type
low complexity region	85	101	N/A	INTRINSIC
TPR	116	149	9.39e-1	SMART
TPR	155	188	1.23e-4	SMART
TPR	189	222	7.06e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147984

Meta Mutation Damage Score

0.0633

Coding Region Coverage

1x: 99.2%
3x: 98.1%
10x: 95.2%
20x: 87.5%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	A	G	8: 10,976,126 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,242,114 (GRCm39)	I1326F	possibly damaging	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Aspscr1	C	G	11: 120,579,751 (GRCm39)	Q97E	probably damaging	Het
Atad2	A	G	15: 57,984,330 (GRCm39)		probably benign	Het
Atcay	A	T	10: 81,050,554 (GRCm39)		probably null	Het
Brme1	C	T	8: 84,893,871 (GRCm39)	T311I	probably damaging	Het
C4b	T	A	17: 34,960,214 (GRCm39)	Y279F	probably damaging	Het
Cav1	A	T	6: 17,308,048 (GRCm39)	S67C	possibly damaging	Het
Ceacam23	G	A	7: 17,642,873 (GRCm39)		noncoding transcript	Het
Celf2	A	C	2: 6,629,525 (GRCm39)	H113Q	probably damaging	Het
Cep170	A	C	1: 176,586,021 (GRCm39)	N590K	probably damaging	Het
Ces1f	A	T	8: 94,006,327 (GRCm39)	M1K	probably null	Het
Chrna1	C	A	2: 73,397,180 (GRCm39)	D370Y	possibly damaging	Het
Csmd1	C	A	8: 16,034,849 (GRCm39)	G2441C	probably damaging	Het
D630003M21Rik	C	T	2: 158,038,495 (GRCm39)	D984N	possibly damaging	Het
Dhrs1	T	C	14: 55,977,396 (GRCm39)	T241A	probably benign	Het
Edar	A	C	10: 58,465,271 (GRCm39)	C31G	probably damaging	Het
Eps8	A	G	6: 137,514,682 (GRCm39)	S24P	possibly damaging	Het
Fam149a	T	C	8: 45,794,061 (GRCm39)	E669G	probably damaging	Het
Fcrla	A	T	1: 170,749,868 (GRCm39)	M1K	probably null	Het
G3bp1	T	A	11: 55,386,252 (GRCm39)	V237E	probably benign	Het
Galnt5	A	G	2: 57,888,889 (GRCm39)	E163G	probably benign	Het
Gpr87	T	C	3: 59,086,932 (GRCm39)	D192G	possibly damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Ints1	T	C	5: 139,750,968 (GRCm39)	T810A		Het
Kalrn	A	G	16: 33,870,306 (GRCm39)		probably benign	Het
Kcnk6	T	C	7: 28,931,634 (GRCm39)	D92G	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mfsd6	A	T	1: 52,748,348 (GRCm39)	N172K	probably damaging	Het
Mtcl1	G	T	17: 66,661,237 (GRCm39)	Q1225K	possibly damaging	Het
Nav2	C	T	7: 49,185,701 (GRCm39)	T948M	probably damaging	Het
Nfic	T	C	10: 81,256,419 (GRCm39)	K104E	probably damaging	Het
Nup58	G	A	14: 60,488,740 (GRCm39)		probably benign	Het
Nwd2	A	T	5: 63,965,241 (GRCm39)	K1608N	probably damaging	Het
Or10n1	T	A	9: 39,525,298 (GRCm39)	I145K	probably benign	Het
Or1j21	G	A	2: 36,684,006 (GRCm39)	G253R	probably damaging	Het
Or1j21	G	T	2: 36,684,007 (GRCm39)	G253V	probably damaging	Het
Phf21b	T	C	15: 84,688,968 (GRCm39)	D186G	probably damaging	Het
Poli	C	T	18: 70,661,829 (GRCm39)	C57Y	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,345,927 (GRCm39)	Y256C	probably benign	Het
Satb1	C	A	17: 52,089,726 (GRCm39)	E374*	probably null	Het
Scn4a	C	T	11: 106,236,262 (GRCm39)	E333K	probably benign	Het
Sec14l2	C	T	11: 4,053,661 (GRCm39)		probably benign	Het
Slain1	T	C	14: 103,923,261 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Syne2	T	C	12: 75,977,352 (GRCm39)	S1266P	probably damaging	Het
Syne2	A	G	12: 76,080,496 (GRCm39)	E4810G	probably damaging	Het
Tbck	T	C	3: 132,448,841 (GRCm39)	I618T	probably damaging	Het
Tmem132d	A	T	5: 127,861,657 (GRCm39)	N821K	probably benign	Het
Trim28	T	A	7: 12,762,628 (GRCm39)	V381E	probably damaging	Het
Ube2u	A	G	4: 100,338,852 (GRCm39)	E39G	possibly damaging	Het
Urb2	T	C	8: 124,757,665 (GRCm39)	V1124A	probably benign	Het
Usp13	A	G	3: 32,872,025 (GRCm39)		probably benign	Het
Vmn1r216	A	T	13: 23,283,631 (GRCm39)	S105C	probably damaging	Het
Yipf2	T	C	9: 21,501,412 (GRCm39)	T23A	probably damaging	Het
Zfp521	G	A	18: 13,978,148 (GRCm39)	T755M	probably damaging	Het
Zfp619	T	A	7: 39,187,183 (GRCm39)	M1071K	probably benign	Het
Zfp942	A	T	17: 22,148,066 (GRCm39)	C188S	probably benign	Het

Other mutations in Ttc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Ttc1	APN	11	43,621,320 (GRCm39)	missense	probably damaging	0.96
IGL01449:Ttc1	APN	11	43,629,630 (GRCm39)	missense	probably damaging	0.99
IGL01980:Ttc1	APN	11	43,621,291 (GRCm39)	utr 3 prime	probably benign
IGL02414:Ttc1	APN	11	43,630,664 (GRCm39)	splice site	probably benign
IGL02541:Ttc1	APN	11	43,629,648 (GRCm39)	missense	probably benign
IGL03006:Ttc1	APN	11	43,636,147 (GRCm39)	missense	probably benign
IGL03253:Ttc1	APN	11	43,629,650 (GRCm39)	missense	probably benign	0.01
PIT4434001:Ttc1	UTSW	11	43,635,955 (GRCm39)	missense	probably damaging	1.00
R0391:Ttc1	UTSW	11	43,629,635 (GRCm39)	missense	probably damaging	1.00
R1037:Ttc1	UTSW	11	43,621,326 (GRCm39)	missense	possibly damaging	0.90
R4667:Ttc1	UTSW	11	43,636,144 (GRCm39)	missense	probably benign	0.01
R7493:Ttc1	UTSW	11	43,636,189 (GRCm39)	missense	probably damaging	1.00
R7956:Ttc1	UTSW	11	43,627,240 (GRCm39)	critical splice donor site	probably null
R8032:Ttc1	UTSW	11	43,628,806 (GRCm39)	missense	probably damaging	0.98
R9515:Ttc1	UTSW	11	43,621,305 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GACTTAGCAGGCACATTATCCACAACCA -3'
(R):5'- CCAGACATTTAGCCGTACCTCCCTCC -3'

Sequencing Primer
(F):5'- GCACATTATCCACAACCATTTACCTG -3'
(R):5'- TCCCTGAACTCAGCATGGAG -3'

Posted On

2013-04-11