Mutagenetix > Incidental Mutation

Incidental Mutation 'R7094:Ttc22'

550345

Institutional Source

Beutler Lab

Gene Symbol

Ttc22

Ensembl Gene

ENSMUSG00000034919

Gene Name

tetratricopeptide repeat domain 22

Synonyms

4732467L16Rik

MMRRC Submission

045187-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7094 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106479646-106497393 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 106493104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 250 (W250*)

Ref Sequence

ENSEMBL: ENSMUSP00000035773 (fasta)

Gene Model

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

AlphaFold

Q8C159

Predicted Effect

probably null
Transcript: ENSMUST00000047922
AA Change: W250*

SMART Domains

Protein: ENSMUSP00000035773
Gene: ENSMUSG00000034919
AA Change: W250*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,610 (GRCm39)	I2786F	probably damaging	Het
Actl6a	A	T	3: 32,760,487 (GRCm39)		probably benign	Het
Actn2	A	G	13: 12,324,543 (GRCm39)	V100A	probably damaging	Het
Arfgef3	G	T	10: 18,522,187 (GRCm39)	A613E	probably damaging	Het
Atf6b	G	A	17: 34,872,790 (GRCm39)		probably null	Het
Bub1	T	A	2: 127,663,681 (GRCm39)	E240V	probably null	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc141	C	A	2: 76,871,797 (GRCm39)	R829L	possibly damaging	Het
Ccdc85c	GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC	GCCGCCGCCGCCAGCGCC	12: 108,240,877 (GRCm39)		probably null	Het
Cd209g	T	C	8: 4,186,790 (GRCm39)	F112L	possibly damaging	Het
Cebpe	C	T	14: 54,948,060 (GRCm39)	R261H	probably damaging	Het
Cfap100	T	C	6: 90,390,436 (GRCm39)	E68G		Het
Chd9	A	G	8: 91,716,189 (GRCm39)	N921S	unknown	Het
Chil6	T	C	3: 106,311,486 (GRCm39)	N98S	probably damaging	Het
Clip1	T	C	5: 123,761,333 (GRCm39)	K734E	probably benign	Het
Cracd	C	T	5: 77,006,879 (GRCm39)	P1080L	unknown	Het
Cyp11b2	A	G	15: 74,725,507 (GRCm39)	F204S	possibly damaging	Het
Dnah5	A	G	15: 28,453,482 (GRCm39)	T4418A	probably damaging	Het
Dysf	T	C	6: 84,077,184 (GRCm39)	V649A	probably benign	Het
Ergic3	G	A	2: 155,858,683 (GRCm39)	V270M	possibly damaging	Het
Eva1a	C	T	6: 82,069,024 (GRCm39)	T117I	probably damaging	Het
Fat4	G	A	3: 38,944,023 (GRCm39)	G972D	probably damaging	Het
Gm14412	A	T	2: 177,009,138 (GRCm39)	N39K	probably damaging	Het
Gm5565	T	C	5: 146,095,084 (GRCm39)	T221A	probably benign	Het
Gnptab	T	G	10: 88,215,366 (GRCm39)	V29G	possibly damaging	Het
Grem2	T	C	1: 174,664,555 (GRCm39)	Y98C	probably damaging	Het
Grik2	A	T	10: 49,232,012 (GRCm39)	I506N	possibly damaging	Het
Has2	T	A	15: 56,545,017 (GRCm39)	Y195F	probably damaging	Het
Kics2	A	G	10: 121,576,098 (GRCm39)	Y73C	possibly damaging	Het
Lars2	T	C	9: 123,288,650 (GRCm39)	L832P	probably damaging	Het
Lipo5	T	A	19: 33,446,249 (GRCm39)	E49D	probably damaging	Het
Macc1	T	A	12: 119,414,126 (GRCm39)	Y767*	probably null	Het
Map2	G	T	1: 66,451,886 (GRCm39)	E259*	probably null	Het
Mcm9	T	C	10: 53,496,253 (GRCm39)	D310G	probably damaging	Het
Mink1	C	A	11: 70,500,901 (GRCm39)		probably null	Het
Mtrr	T	C	13: 68,727,803 (GRCm39)	T48A	possibly damaging	Het
Nrsn1	A	T	13: 25,437,724 (GRCm39)	I68N	possibly damaging	Het
Or1ab2	A	T	8: 72,863,347 (GRCm39)		probably benign	Het
Or4a71	A	T	2: 89,357,902 (GRCm39)	I284K	probably damaging	Het
Or51f23b	A	G	7: 102,402,305 (GRCm39)	M277T	probably benign	Het
Or5p60	G	T	7: 107,723,840 (GRCm39)	T210N	probably benign	Het
Or8k36-ps1	T	C	2: 86,437,672 (GRCm39)	N81S	unknown	Het
Pcdh17	A	G	14: 84,684,835 (GRCm39)	D434G	probably damaging	Het
Rnf213	T	A	11: 119,328,430 (GRCm39)		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sez6l2	A	G	7: 126,552,096 (GRCm39)	E121G	probably damaging	Het
Slc35e4	T	C	11: 3,863,118 (GRCm39)	S24G	probably benign	Het
Slc39a2	G	T	14: 52,131,146 (GRCm39)		probably benign	Het
Slitrk5	C	T	14: 111,918,268 (GRCm39)	P631S	probably benign	Het
Taf2	A	G	15: 54,923,482 (GRCm39)	V265A	probably benign	Het
Tas2r106	T	C	6: 131,655,542 (GRCm39)	N103S	probably benign	Het
Tgm1	T	C	14: 55,942,300 (GRCm39)	T684A	possibly damaging	Het
Tgm7	C	T	2: 120,929,489 (GRCm39)	G262S	probably damaging	Het
Tpp2	T	A	1: 44,008,148 (GRCm39)	S451T	probably damaging	Het
Trim15	T	C	17: 37,173,788 (GRCm39)	Y240C	probably benign	Het
Trio	A	T	15: 27,891,534 (GRCm39)	C465S	unknown	Het
Upb1	C	A	10: 75,274,042 (GRCm39)	F356L	probably damaging	Het
Vmn2r99	T	A	17: 19,599,573 (GRCm39)	M419K	probably benign	Het
Vstm2a	G	A	11: 16,207,990 (GRCm39)		probably benign	Het
Zfp820	T	C	17: 22,038,246 (GRCm39)	T361A	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
IGL02754:Ttc22	APN	4	106,495,669 (GRCm39)	missense	probably benign	0.22
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
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

Predicted Primers

PCR Primer
(F):5'- AATCATGTCACACCCTCGGC -3'
(R):5'- TAGAATCCTTCCTGGGTGGGTC -3'

Sequencing Primer
(F):5'- ACACCCTCGGCATCCTATATC -3'
(R):5'- CCTTCCTGGGTGGGTCATACAG -3'

Posted On

2019-05-15