Mutagenetix > Incidental Mutation

Incidental Mutation 'R6912:Ttc22'

539074

Institutional Source

Beutler Lab

Gene Symbol

Ttc22

Ensembl Gene

ENSMUSG00000034919

Gene Name

tetratricopeptide repeat domain 22

Synonyms

MMRRC Submission

045004-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6912 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106622432-106640189 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106638603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 385 (T385A)

Ref Sequence

ENSEMBL: ENSMUSP00000035773 (fasta)

Gene Model

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

AlphaFold

Q8C159

Predicted Effect

probably benign
Transcript: ENSMUST00000047922
AA Change: T385A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000035773
Gene: ENSMUSG00000034919
AA Change: T385A

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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	A	7: 43,501,147 (GRCm38)	T67I	possibly damaging	Het
4931406P16Rik	A	G	7: 34,245,668 (GRCm38)	S384P	probably benign	Het
Abca5	A	T	11: 110,306,280 (GRCm38)	M524K	probably benign	Het
Aco2	G	A	15: 81,895,396 (GRCm38)	V134I	probably benign	Het
Acsf2	C	T	11: 94,570,380 (GRCm38)	M323I	probably benign	Het
Acvr1	T	C	2: 58,447,573 (GRCm38)	D499G	probably benign	Het
Armc5	G	A	7: 128,240,425 (GRCm38)	C305Y	probably damaging	Het
Astl	T	C	2: 127,356,386 (GRCm38)	I286T	probably benign	Het
Atp8a2	G	A	14: 60,012,410 (GRCm38)	S544L	probably benign	Het
Bbs7	G	T	3: 36,605,704 (GRCm38)	A194E	probably benign	Het
Brca2	A	G	5: 150,541,742 (GRCm38)	D1657G	probably damaging	Het
Cfap46	G	A	7: 139,639,700 (GRCm38)	S1283L	probably benign	Het
Creld2	T	C	15: 88,819,997 (GRCm38)	S64P	probably damaging	Het
Crtc1	T	C	8: 70,398,311 (GRCm38)	E217G	probably damaging	Het
Cyp2d26	C	T	15: 82,791,119 (GRCm38)	V345M	probably benign	Het
Cyp2j11	T	C	4: 96,294,871 (GRCm38)	M487V	probably benign	Het
Dnah12	T	C	14: 26,878,079 (GRCm38)	I3692T	probably damaging	Het
Dnah14	A	T	1: 181,750,183 (GRCm38)	T3022S	possibly damaging	Het
Dtnb	A	T	12: 3,648,221 (GRCm38)		probably null	Het
Erf	T	C	7: 25,244,578 (GRCm38)	T443A	possibly damaging	Het
Ermp1	T	A	19: 29,616,611 (GRCm38)	I720F	probably benign	Het
Fam83b	T	A	9: 76,490,932 (GRCm38)	E963V	probably damaging	Het
Fat1	T	A	8: 45,051,023 (GRCm38)	S4463T	probably benign	Het
Fbxw27	T	A	9: 109,788,080 (GRCm38)	K118*	probably null	Het
Fcgbp	A	T	7: 28,089,704 (GRCm38)	Y565F	probably benign	Het
Gm128	A	T	3: 95,240,429 (GRCm38)	S185T	probably benign	Het
Gm6309	C	T	5: 146,168,830 (GRCm38)	E175K	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184 (GRCm38)	R47H	probably damaging	Het
Gprin2	T	C	14: 34,194,640 (GRCm38)	Y391C	probably damaging	Het
Hexa	T	C	9: 59,539,938 (GRCm38)	L72P	probably damaging	Het
Hrasls5	A	G	19: 7,639,465 (GRCm38)		probably benign	Het
Il31ra	T	A	13: 112,549,464 (GRCm38)	D124V	probably damaging	Het
Kdm2a	C	T	19: 4,322,501 (GRCm38)	A939T	probably benign	Het
Kif16b	A	G	2: 142,700,099 (GRCm38)		probably benign	Het
Kndc1	A	T	7: 139,910,278 (GRCm38)	D232V	probably damaging	Het
Lrrc37a	T	G	11: 103,457,543 (GRCm38)	R2775S	unknown	Het
Luc7l3	C	T	11: 94,309,636 (GRCm38)	R52H	probably damaging	Het
Mapk15	A	T	15: 75,993,898 (GRCm38)	R13S	probably damaging	Het
Mdga2	G	T	12: 66,506,115 (GRCm38)	Q187K	probably benign	Het
Mfsd2b	G	A	12: 4,870,611 (GRCm38)	Q69*	probably null	Het
Mlph	A	T	1: 90,945,620 (GRCm38)	D551V	probably damaging	Het
Mup5	A	T	4: 61,834,569 (GRCm38)	F72L	probably benign	Het
Narf	T	C	11: 121,238,461 (GRCm38)	S24P	probably benign	Het
Ncapg2	A	G	12: 116,426,582 (GRCm38)	I384V	probably benign	Het
Neo1	T	C	9: 58,917,052 (GRCm38)	T698A	probably benign	Het
Nox3	A	G	17: 3,685,923 (GRCm38)	S143P	probably damaging	Het
Nrros	T	C	16: 32,162,239 (GRCm38)	R24G	probably null	Het
Olfr1331	T	A	4: 118,869,138 (GRCm38)	M119K	probably damaging	Het
Olfr449	T	C	6: 42,838,802 (GRCm38)	V307A	probably benign	Het
Pde9a	T	C	17: 31,466,412 (GRCm38)	S347P	possibly damaging	Het
Pitpnm3	T	C	11: 72,070,396 (GRCm38)	D315G	probably benign	Het
Plekha6	C	T	1: 133,272,535 (GRCm38)	A284V	probably benign	Het
Plekhg2	A	G	7: 28,360,259 (GRCm38)	V1215A	probably benign	Het
Ppif	C	A	14: 25,698,287 (GRCm38)	A144E	probably damaging	Het
Ppp1r10	T	C	17: 35,929,561 (GRCm38)	V581A	possibly damaging	Het
Prr12	A	G	7: 45,048,845 (GRCm38)		probably benign	Het
Rfx6	T	C	10: 51,723,853 (GRCm38)	V565A	probably benign	Het
Rsrc1	C	T	3: 66,994,649 (GRCm38)	P44L	unknown	Het
Saxo2	A	G	7: 82,635,194 (GRCm38)	V152A	possibly damaging	Het
Sdk2	T	C	11: 113,903,120 (GRCm38)	D86G	probably benign	Het
Shroom3	A	T	5: 92,943,017 (GRCm38)	M1128L	probably benign	Het
Smok2a	C	A	17: 13,225,656 (GRCm38)	T40K	probably benign	Het
Tatdn1	C	T	15: 58,921,269 (GRCm38)		probably null	Het
Tbc1d2	C	A	4: 46,649,712 (GRCm38)	G108V	probably damaging	Het
Tbck	T	C	3: 132,686,942 (GRCm38)	I48T	possibly damaging	Het
Tm7sf3	A	G	6: 146,626,103 (GRCm38)	F75S	possibly damaging	Het
Tmx4	T	C	2: 134,598,799 (GRCm38)	D245G	probably benign	Het
Trim68	A	T	7: 102,684,468 (GRCm38)	D2E	probably damaging	Het
Trps1	T	A	15: 50,822,298 (GRCm38)	Q157L	possibly damaging	Het
Ubap2l	A	T	3: 90,038,848 (GRCm38)	F150I	possibly damaging	Het
Ube2u	C	T	4: 100,532,155 (GRCm38)	R105W	probably damaging	Het
Ubr4	G	A	4: 139,458,234 (GRCm38)		probably null	Het
Unc5b	A	G	10: 60,831,092 (GRCm38)	L25P	probably benign	Het
Usp38	A	G	8: 80,993,329 (GRCm38)	S424P	probably damaging	Het
Vmn1r222	T	A	13: 23,232,204 (GRCm38)	S280C	probably benign	Het
Vmn1r59	A	T	7: 5,454,600 (GRCm38)	F54I	probably benign	Het
Vmn2r-ps117	T	A	17: 18,827,202 (GRCm38)	C536S	probably damaging	Het
Zkscan2	A	C	7: 123,499,973 (GRCm38)		probably benign	Het

Other mutations in Ttc22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01718:Ttc22	APN	4	106,638,576 (GRCm38)	missense	probably damaging	1.00
IGL01749:Ttc22	APN	4	106,638,603 (GRCm38)	missense	probably benign	0.04
IGL02189:Ttc22	APN	4	106,639,157 (GRCm38)	missense	probably benign	0.21
IGL02206:Ttc22	APN	4	106,635,989 (GRCm38)	missense	probably damaging	1.00
IGL02219:Ttc22	APN	4	106,638,490 (GRCm38)	missense	probably damaging	0.97
IGL02348:Ttc22	APN	4	106,622,938 (GRCm38)	missense	probably damaging	1.00
IGL02754:Ttc22	APN	4	106,638,472 (GRCm38)	missense	probably benign	0.22
IGL02982:Ttc22	APN	4	106,638,586 (GRCm38)	missense	probably damaging	0.97
R0044:Ttc22	UTSW	4	106,636,806 (GRCm38)	missense	probably benign
R0607:Ttc22	UTSW	4	106,639,313 (GRCm38)	missense	possibly damaging	0.72
R0611:Ttc22	UTSW	4	106,634,184 (GRCm38)	missense	probably damaging	1.00
R1148:Ttc22	UTSW	4	106,623,031 (GRCm38)	missense	probably damaging	1.00
R1148:Ttc22	UTSW	4	106,623,031 (GRCm38)	missense	probably damaging	1.00
R1466:Ttc22	UTSW	4	106,622,780 (GRCm38)	missense	probably damaging	1.00
R1466:Ttc22	UTSW	4	106,622,780 (GRCm38)	missense	probably damaging	1.00
R1584:Ttc22	UTSW	4	106,622,780 (GRCm38)	missense	probably damaging	1.00
R1654:Ttc22	UTSW	4	106,634,211 (GRCm38)	missense	probably damaging	1.00
R1776:Ttc22	UTSW	4	106,639,040 (GRCm38)	missense	possibly damaging	0.64
R1864:Ttc22	UTSW	4	106,636,806 (GRCm38)	missense	probably benign
R1886:Ttc22	UTSW	4	106,636,866 (GRCm38)	critical splice donor site	probably null
R2136:Ttc22	UTSW	4	106,622,672 (GRCm38)	missense	possibly damaging	0.49
R2156:Ttc22	UTSW	4	106,639,040 (GRCm38)	missense	probably benign	0.43
R2267:Ttc22	UTSW	4	106,639,085 (GRCm38)	missense	possibly damaging	0.60
R2698:Ttc22	UTSW	4	106,639,238 (GRCm38)	missense	probably benign
R3162:Ttc22	UTSW	4	106,623,079 (GRCm38)	missense	probably damaging	0.97
R3162:Ttc22	UTSW	4	106,623,079 (GRCm38)	missense	probably damaging	0.97
R3754:Ttc22	UTSW	4	106,639,081 (GRCm38)	missense	probably damaging	0.99
R5399:Ttc22	UTSW	4	106,636,757 (GRCm38)	missense	probably damaging	1.00
R5839:Ttc22	UTSW	4	106,638,520 (GRCm38)	missense	probably damaging	0.99
R6156:Ttc22	UTSW	4	106,638,583 (GRCm38)	missense	probably benign	0.00
R6678:Ttc22	UTSW	4	106,623,045 (GRCm38)	missense	probably benign	0.17
R7094:Ttc22	UTSW	4	106,635,907 (GRCm38)	nonsense	probably null
R8166:Ttc22	UTSW	4	106,634,476 (GRCm38)	missense	probably damaging	0.99
R8253:Ttc22	UTSW	4	106,638,520 (GRCm38)	missense	probably damaging	0.99
R8334:Ttc22	UTSW	4	106,638,918 (GRCm38)	splice site	probably null
Z1177:Ttc22	UTSW	4	106,622,523 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCCTAGTTGGTGCTGAGAAGC -3'
(R):5'- ATGGGCTGACTGCTAAGAGG -3'

Sequencing Primer
(F):5'- TGCTGAGAAGCAATCTGGC -3'
(R):5'- CTGACTGCTAAGAGGGGTGG -3'

Posted On

2018-11-06