Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02541:Ttc1'

298229

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc1

Ensembl Gene

ENSMUSG00000041278

Gene Name

tetratricopeptide repeat domain 1

Synonyms

4833412C19Rik, TPR1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

IGL02541

Quality Score

Status

Chromosome

Chromosomal Location

43620833-43638835 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43629648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 173 (T173A)

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: T173A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040779
Gene: ENSMUSG00000041278
AA Change: T173A

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: T173A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104901
Gene: ENSMUSG00000041278
AA Change: T173A

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

Coding Region Coverage

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,113,881 (GRCm39)	L917F	possibly damaging	Het
Abca6	A	T	11: 110,103,093 (GRCm39)	W833R	probably damaging	Het
Asb15	T	A	6: 24,566,265 (GRCm39)	V406D	probably damaging	Het
Bcl9l	T	C	9: 44,419,066 (GRCm39)	V968A	probably benign	Het
Bend7	T	C	2: 4,768,116 (GRCm39)		probably null	Het
Cadm2	C	A	16: 66,679,770 (GRCm39)	G21V	possibly damaging	Het
Cadm2	C	A	16: 66,679,771 (GRCm39)		probably null	Het
Camta1	G	A	4: 151,169,112 (GRCm39)	T1191I	probably benign	Het
Cep152	C	T	2: 125,447,274 (GRCm39)	A425T	probably damaging	Het
Cep95	C	A	11: 106,706,407 (GRCm39)	Q554K	probably damaging	Het
Cgref1	A	G	5: 31,091,502 (GRCm39)		probably null	Het
Clock	T	A	5: 76,410,519 (GRCm39)		probably null	Het
Cmc2	A	G	8: 117,620,883 (GRCm39)	F33L	probably benign	Het
Cnksr3	A	G	10: 7,085,073 (GRCm39)	V258A	probably damaging	Het
Col6a6	G	T	9: 105,609,415 (GRCm39)	N1624K	probably benign	Het
Cped1	T	C	6: 22,120,988 (GRCm39)	I356T	probably benign	Het
Dpy19l2	C	T	9: 24,569,943 (GRCm39)	V337I	probably benign	Het
E2f3	A	T	13: 30,100,827 (GRCm39)		probably null	Het
Eif1ad	A	G	19: 5,418,445 (GRCm39)		probably benign	Het
Fam114a2	A	T	11: 57,390,627 (GRCm39)	D302E	probably benign	Het
Fign	T	C	2: 63,809,881 (GRCm39)	N463S	probably benign	Het
Fzr1	T	C	10: 81,205,867 (GRCm39)	T220A	probably damaging	Het
Gm14496	G	A	2: 181,642,186 (GRCm39)	R619Q	probably benign	Het
Gm9966	T	C	7: 95,607,991 (GRCm39)	I104T	unknown	Het
Itgb7	G	T	15: 102,131,892 (GRCm39)	H230Q	probably benign	Het
Kif7	T	C	7: 79,360,628 (GRCm39)	H249R	possibly damaging	Het
Krtap4-2	T	G	11: 99,525,792 (GRCm39)	Q20P	unknown	Het
Mis18bp1	T	C	12: 65,208,234 (GRCm39)	T160A	probably damaging	Het
Mrps9	T	C	1: 42,901,814 (GRCm39)		probably null	Het
Mynn	T	A	3: 30,665,752 (GRCm39)	H461Q	probably damaging	Het
Naa25	A	G	5: 121,562,594 (GRCm39)	T459A	possibly damaging	Het
Niban3	A	T	8: 72,055,426 (GRCm39)	T279S	probably benign	Het
Notch1	C	T	2: 26,358,515 (GRCm39)	D1439N	probably benign	Het
Or2ag2b	A	G	7: 106,417,809 (GRCm39)	E173G	probably benign	Het
Pals2	A	G	6: 50,160,707 (GRCm39)	I323V	probably benign	Het
Pcdhb3	A	T	18: 37,435,198 (GRCm39)	D388V	probably damaging	Het
Pold3	C	T	7: 99,732,879 (GRCm39)	G417S	probably damaging	Het
Pwwp3a	G	A	10: 80,064,273 (GRCm39)		probably null	Het
Rad17	A	G	13: 100,769,951 (GRCm39)		probably benign	Het
Sh3glb1	T	C	3: 144,425,801 (GRCm39)	D5G	probably damaging	Het
Shank3	T	A	15: 89,385,613 (GRCm39)	Y167N	probably damaging	Het
Slc3a2	A	T	19: 8,685,123 (GRCm39)	Y292*	probably null	Het
Slc7a13	T	A	4: 19,839,212 (GRCm39)		probably benign	Het
Snx18	A	T	13: 113,731,302 (GRCm39)	I564N	probably damaging	Het
Supt6	G	A	11: 78,117,744 (GRCm39)	R491C	probably damaging	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tnrc6b	C	A	15: 80,764,032 (GRCm39)	D511E	probably benign	Het
Trio	A	G	15: 27,845,016 (GRCm39)		probably benign	Het
Trmt12	T	A	15: 58,745,651 (GRCm39)	W350R	probably benign	Het
Ttc39d	C	A	17: 80,523,875 (GRCm39)	T178K	probably damaging	Het
Ufl1	T	A	4: 25,250,534 (GRCm39)	E693V	possibly damaging	Het
Vamp2	G	T	11: 68,979,977 (GRCm39)	E16D	unknown	Het
Vmn2r-ps158	T	A	7: 42,673,092 (GRCm39)		probably benign	Het
Wdr70	C	T	15: 7,913,783 (GRCm39)	W622*	probably null	Het
Zfp28	C	T	7: 6,396,479 (GRCm39)	Q305*	probably null	Het
Zfp653	C	A	9: 21,967,079 (GRCm39)	R602L	probably damaging	Het
Zzef1	T	A	11: 72,763,475 (GRCm39)	V1374E	probably damaging	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
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
R0113:Ttc1	UTSW	11	43,636,115 (GRCm39)	missense	probably benign	0.25
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

Posted On

2015-04-16