Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02754:Ttc22'

306347

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc22

Ensembl Gene

ENSMUSG00000034919

Gene Name

tetratricopeptide repeat domain 22

Synonyms

4732467L16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02754

Quality Score

Status

Chromosome

Chromosomal Location

106479646-106497393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106495669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 341 (V341A)

Ref Sequence

ENSEMBL: ENSMUSP00000035773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047922]

AlphaFold

Q8C159

Predicted Effect

probably benign
Transcript: ENSMUST00000047922
AA Change: V341A

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035773
Gene: ENSMUSG00000034919
AA Change: V341A

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	46	59	N/A	INTRINSIC
TPR	66	99	2.3e1	SMART
Pfam:TPR_8	100	128	2.5e-3	PFAM
TPR	295	328	2.99e1	SMART
TPR	432	465	6.19e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136505

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 with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AW551984	T	A	9: 39,507,922 (GRCm39)	R405*	probably null	Het
AW551984	C	T	9: 39,504,624 (GRCm39)		probably null	Het
Bdp1	T	C	13: 100,197,481 (GRCm39)	E968G	possibly damaging	Het
Ccdc68	T	C	18: 70,076,935 (GRCm39)		probably null	Het
Ccdc87	T	A	19: 4,889,889 (GRCm39)	L127H	probably damaging	Het
Cdk5r1	G	T	11: 80,368,569 (GRCm39)	A79S	probably benign	Het
Cdyl	A	T	13: 35,867,725 (GRCm39)		probably benign	Het
Cfdp1	A	G	8: 112,580,766 (GRCm39)		probably benign	Het
Chi3l1	A	T	1: 134,111,339 (GRCm39)	I62F	probably damaging	Het
Cnot1	A	T	8: 96,481,706 (GRCm39)	I789K	probably benign	Het
Cobl	T	C	11: 12,204,371 (GRCm39)	K695R	probably damaging	Het
Cobl	C	A	11: 12,204,370 (GRCm39)	K752N	probably damaging	Het
Cstdc5	G	A	16: 36,179,899 (GRCm39)	P73S	probably benign	Het
Dcaf6	T	C	1: 165,165,915 (GRCm39)		probably null	Het
Ece2	A	T	16: 20,451,398 (GRCm39)	I197F	probably damaging	Het
Eif2b5	T	G	16: 20,321,536 (GRCm39)	V363G	possibly damaging	Het
Gca	T	C	2: 62,502,702 (GRCm39)	S37P	probably benign	Het
Ghsr	A	C	3: 27,426,645 (GRCm39)	I234L	probably damaging	Het
Grin3b	A	T	10: 79,808,723 (GRCm39)	I158F	possibly damaging	Het
Gtf2h2	A	T	13: 100,617,747 (GRCm39)	D178E	probably damaging	Het
Herc2	A	G	7: 55,747,246 (GRCm39)	E461G	probably damaging	Het
Hsph1	T	A	5: 149,547,057 (GRCm39)	N531I	possibly damaging	Het
Insl6	G	T	19: 29,302,529 (GRCm39)	Q63K	probably benign	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrp8	T	C	4: 107,691,952 (GRCm39)		probably null	Het
Lvrn	C	T	18: 47,023,971 (GRCm39)	Q773*	probably null	Het
Mterf1b	T	C	5: 4,246,478 (GRCm39)	F40L	possibly damaging	Het
Nrg1	G	A	8: 32,316,391 (GRCm39)		probably benign	Het
Or10ak13	T	A	4: 118,639,117 (GRCm39)	I222F	possibly damaging	Het
Or1n1	T	A	2: 36,750,232 (GRCm39)	I43F	probably damaging	Het
Or5p79	T	C	7: 108,221,880 (GRCm39)	I287T	possibly damaging	Het
Pax5	C	T	4: 44,570,059 (GRCm39)	V319I	probably damaging	Het
Plcz1	T	A	6: 139,956,307 (GRCm39)	T321S	probably benign	Het
Plekha6	A	G	1: 133,212,676 (GRCm39)	E660G	probably damaging	Het
Prep	T	C	10: 44,943,428 (GRCm39)	M1T	probably null	Het
Prickle1	C	T	15: 93,399,034 (GRCm39)	S598N	possibly damaging	Het
Prtn3	A	G	10: 79,716,932 (GRCm39)	Q99R	probably benign	Het
Rad50	A	G	11: 53,592,883 (GRCm39)	V89A	probably damaging	Het
Ret	T	C	6: 118,153,213 (GRCm39)	Y485C	probably benign	Het
Setd2	T	A	9: 110,379,124 (GRCm39)	F980I	possibly damaging	Het
Slc44a4	A	G	17: 35,140,279 (GRCm39)	Y228C	probably damaging	Het
Tex10	C	T	4: 48,435,028 (GRCm39)	C779Y	possibly damaging	Het
Tfdp2	T	G	9: 96,199,592 (GRCm39)	S285A	probably benign	Het
Thsd4	T	A	9: 59,896,380 (GRCm39)		probably benign	Het
Tmem106a	A	C	11: 101,481,219 (GRCm39)	E242D	probably benign	Het
Ubr4	T	A	4: 139,138,095 (GRCm39)	S1151T	probably damaging	Het
Ubr4	G	A	4: 139,120,470 (GRCm39)		probably null	Het
Vmn1r206	A	T	13: 22,805,060 (GRCm39)	L49*	probably null	Het
Vmn1r233	A	T	17: 21,214,887 (GRCm39)	F21Y	probably benign	Het
Vmn1r233	A	T	17: 21,214,886 (GRCm39)	F21L	probably benign	Het
Vmn2r15	A	T	5: 109,441,134 (GRCm39)	C241*	probably null	Het
Zmym6	T	A	4: 127,003,764 (GRCm39)		probably benign	Het

Other mutations in Ttc22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01718:Ttc22	APN	4	106,495,773 (GRCm39)	missense	probably damaging	1.00
IGL01749:Ttc22	APN	4	106,495,800 (GRCm39)	missense	probably benign	0.04
IGL02189:Ttc22	APN	4	106,496,354 (GRCm39)	missense	probably benign	0.21
IGL02206:Ttc22	APN	4	106,493,186 (GRCm39)	missense	probably damaging	1.00
IGL02219:Ttc22	APN	4	106,495,687 (GRCm39)	missense	probably damaging	0.97
IGL02348:Ttc22	APN	4	106,480,135 (GRCm39)	missense	probably damaging	1.00
IGL02982:Ttc22	APN	4	106,495,783 (GRCm39)	missense	probably damaging	0.97
R0044:Ttc22	UTSW	4	106,494,003 (GRCm39)	missense	probably benign
R0607:Ttc22	UTSW	4	106,496,510 (GRCm39)	missense	possibly damaging	0.72
R0611:Ttc22	UTSW	4	106,491,381 (GRCm39)	missense	probably damaging	1.00
R1148:Ttc22	UTSW	4	106,480,228 (GRCm39)	missense	probably damaging	1.00
R1148:Ttc22	UTSW	4	106,480,228 (GRCm39)	missense	probably damaging	1.00
R1466:Ttc22	UTSW	4	106,479,977 (GRCm39)	missense	probably damaging	1.00
R1466:Ttc22	UTSW	4	106,479,977 (GRCm39)	missense	probably damaging	1.00
R1584:Ttc22	UTSW	4	106,479,977 (GRCm39)	missense	probably damaging	1.00
R1654:Ttc22	UTSW	4	106,491,408 (GRCm39)	missense	probably damaging	1.00
R1776:Ttc22	UTSW	4	106,496,237 (GRCm39)	missense	possibly damaging	0.64
R1864:Ttc22	UTSW	4	106,494,003 (GRCm39)	missense	probably benign
R1886:Ttc22	UTSW	4	106,494,063 (GRCm39)	critical splice donor site	probably null
R2136:Ttc22	UTSW	4	106,479,869 (GRCm39)	missense	possibly damaging	0.49
R2156:Ttc22	UTSW	4	106,496,237 (GRCm39)	missense	probably benign	0.43
R2267:Ttc22	UTSW	4	106,496,282 (GRCm39)	missense	possibly damaging	0.60
R2698:Ttc22	UTSW	4	106,496,435 (GRCm39)	missense	probably benign
R3162:Ttc22	UTSW	4	106,480,276 (GRCm39)	missense	probably damaging	0.97
R3162:Ttc22	UTSW	4	106,480,276 (GRCm39)	missense	probably damaging	0.97
R3754:Ttc22	UTSW	4	106,496,278 (GRCm39)	missense	probably damaging	0.99
R5399:Ttc22	UTSW	4	106,493,954 (GRCm39)	missense	probably damaging	1.00
R5839:Ttc22	UTSW	4	106,495,717 (GRCm39)	missense	probably damaging	0.99
R6156:Ttc22	UTSW	4	106,495,780 (GRCm39)	missense	probably benign	0.00
R6678:Ttc22	UTSW	4	106,480,242 (GRCm39)	missense	probably benign	0.17
R6912:Ttc22	UTSW	4	106,495,800 (GRCm39)	missense	probably benign	0.04
R7094:Ttc22	UTSW	4	106,493,104 (GRCm39)	nonsense	probably null
R8166:Ttc22	UTSW	4	106,491,673 (GRCm39)	missense	probably damaging	0.99
R8253:Ttc22	UTSW	4	106,495,717 (GRCm39)	missense	probably damaging	0.99
R8334:Ttc22	UTSW	4	106,496,115 (GRCm39)	splice site	probably null
Z1177:Ttc22	UTSW	4	106,479,720 (GRCm39)	start gained	probably benign

Posted On

2015-04-16