Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02322:Cct8l1'

288298

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cct8l1

Ensembl Gene

ENSMUSG00000038044

Gene Name

chaperonin containing TCP1 subunit 8-like 1

Synonyms

LOC242891, Gm443

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

IGL02322

Quality Score

Status

Chromosome

Chromosomal Location

25721065-25723025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25722581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 432 (V432A)

Ref Sequence

ENSEMBL: ENSMUSP00000044932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045016]

AlphaFold

Q80YT3

Predicted Effect

probably benign
Transcript: ENSMUST00000045016
AA Change: V432A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000044932
Gene: ENSMUSG00000038044
AA Change: V432A

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	52	533	6.3e-116	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	G	A	8: 106,425,268 (GRCm39)	A355V	probably benign	Het
Adam9	A	G	8: 25,445,990 (GRCm39)	V801A	probably damaging	Het
Ankrd36	T	A	11: 5,564,619 (GRCm39)	V479D	possibly damaging	Het
Arid5a	C	T	1: 36,358,497 (GRCm39)	P423L	probably benign	Het
Atp13a4	T	C	16: 29,258,920 (GRCm39)	I650V	probably benign	Het
B4gat1	C	A	19: 5,089,155 (GRCm39)	P51T	possibly damaging	Het
Caskin2	G	A	11: 115,695,303 (GRCm39)	T310M	probably damaging	Het
Ccdc121rt1	A	G	1: 181,337,999 (GRCm39)	S318P	possibly damaging	Het
Ccdc159	G	T	9: 21,840,669 (GRCm39)	V79L	possibly damaging	Het
Ccser2	A	T	14: 36,631,086 (GRCm39)	V18E	probably damaging	Het
Cdh11	A	T	8: 103,374,151 (GRCm39)	F529Y	probably benign	Het
Cep250	A	G	2: 155,832,248 (GRCm39)	E1370G	probably damaging	Het
Col22a1	C	A	15: 71,694,502 (GRCm39)	G717C	unknown	Het
Csmd2	T	C	4: 128,357,520 (GRCm39)		probably benign	Het
Ctrb1	A	C	8: 112,415,951 (GRCm39)		probably null	Het
Cyp2b19	T	C	7: 26,461,803 (GRCm39)	S208P	possibly damaging	Het
Dnmt3l	T	A	10: 77,888,572 (GRCm39)	I158N	possibly damaging	Het
Evi5l	T	C	8: 4,237,236 (GRCm39)		probably benign	Het
Fkbpl	A	G	17: 34,864,298 (GRCm39)	E22G	probably benign	Het
Flnb	T	A	14: 7,894,676 (GRCm38)	F825I	probably damaging	Het
Gjb6	A	T	14: 57,361,732 (GRCm39)	N176K	probably damaging	Het
Gpc2	G	T	5: 138,274,499 (GRCm39)		probably null	Het
H1f7	T	C	15: 98,154,757 (GRCm39)	T131A	possibly damaging	Het
Il20	C	T	1: 130,837,313 (GRCm39)	C104Y	probably damaging	Het
Mgat5	A	G	1: 127,310,722 (GRCm39)	N212S	probably benign	Het
Olfm5	C	T	7: 103,803,608 (GRCm39)	G210D	probably damaging	Het
Olig2	T	C	16: 91,023,546 (GRCm39)	S87P	probably benign	Het
Or2y15	A	G	11: 49,350,784 (GRCm39)	S93G	probably benign	Het
Or4c121	T	A	2: 89,023,806 (GRCm39)	T191S	probably damaging	Het
Osbpl7	G	T	11: 96,946,950 (GRCm39)	A418S	probably benign	Het
Otog	G	T	7: 45,950,881 (GRCm39)	R2551L	probably benign	Het
Oxt	A	T	2: 130,418,200 (GRCm39)	N24I	probably damaging	Het
Pibf1	A	G	14: 99,448,419 (GRCm39)	Y626C	probably damaging	Het
Plekhh2	A	T	17: 84,896,894 (GRCm39)	K934*	probably null	Het
Pramel14	G	A	4: 143,718,591 (GRCm39)		probably benign	Het
Prdm9	A	T	17: 15,783,110 (GRCm39)	N57K	probably damaging	Het
Rapsn	A	G	2: 90,872,251 (GRCm39)	D195G	possibly damaging	Het
Rimbp3	T	G	16: 17,029,479 (GRCm39)	F968V	probably benign	Het
Rpgrip1	A	G	14: 52,387,499 (GRCm39)	N1047S	possibly damaging	Het
Slc35g1	C	T	19: 38,389,013 (GRCm39)	R107*	probably null	Het
Ssh2	A	C	11: 77,307,239 (GRCm39)		probably null	Het
Tiparp	C	A	3: 65,439,441 (GRCm39)	C70*	probably null	Het
Vmn2r110	A	G	17: 20,794,197 (GRCm39)	I824T	probably damaging	Het
Vmn2r78	T	C	7: 86,570,687 (GRCm39)	S402P	probably damaging	Het
Vps13c	A	G	9: 67,845,183 (GRCm39)	E2089G	probably benign	Het
Xirp2	A	T	2: 67,339,082 (GRCm39)	H441L	probably benign	Het
Zdhhc3	C	T	9: 122,929,542 (GRCm39)	G31D	probably benign	Het
Zfp330	A	G	8: 83,497,450 (GRCm39)	L64S	probably damaging	Het

Other mutations in Cct8l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01704:Cct8l1	APN	5	25,722,097 (GRCm39)	missense	probably benign	0.01
IGL02186:Cct8l1	APN	5	25,721,836 (GRCm39)	missense	probably benign	0.05
G1citation:Cct8l1	UTSW	5	25,722,937 (GRCm39)	missense	possibly damaging	0.95
R1478:Cct8l1	UTSW	5	25,722,767 (GRCm39)	missense	probably benign	0.09
R1764:Cct8l1	UTSW	5	25,722,097 (GRCm39)	missense	possibly damaging	0.85
R1772:Cct8l1	UTSW	5	25,722,697 (GRCm39)	missense	probably damaging	0.99
R2680:Cct8l1	UTSW	5	25,722,133 (GRCm39)	missense	probably benign	0.24
R3153:Cct8l1	UTSW	5	25,722,137 (GRCm39)	missense	probably damaging	1.00
R4773:Cct8l1	UTSW	5	25,722,754 (GRCm39)	missense	probably benign	0.40
R4937:Cct8l1	UTSW	5	25,721,891 (GRCm39)	missense	probably benign	0.37
R5071:Cct8l1	UTSW	5	25,721,881 (GRCm39)	missense	probably benign	0.00
R5072:Cct8l1	UTSW	5	25,721,881 (GRCm39)	missense	probably benign	0.00
R5073:Cct8l1	UTSW	5	25,721,881 (GRCm39)	missense	probably benign	0.00
R5074:Cct8l1	UTSW	5	25,721,881 (GRCm39)	missense	probably benign	0.00
R5432:Cct8l1	UTSW	5	25,721,305 (GRCm39)	missense	possibly damaging	0.93
R5507:Cct8l1	UTSW	5	25,721,377 (GRCm39)	missense	probably benign
R5603:Cct8l1	UTSW	5	25,721,497 (GRCm39)	missense	probably benign	0.39
R5950:Cct8l1	UTSW	5	25,722,741 (GRCm39)	missense	probably benign
R6822:Cct8l1	UTSW	5	25,722,937 (GRCm39)	missense	possibly damaging	0.95
R8171:Cct8l1	UTSW	5	25,721,552 (GRCm39)	missense	probably damaging	1.00
R8808:Cct8l1	UTSW	5	25,722,210 (GRCm39)	missense	possibly damaging	0.71
R8902:Cct8l1	UTSW	5	25,722,908 (GRCm39)	missense	probably benign	0.00
R9368:Cct8l1	UTSW	5	25,721,336 (GRCm39)	missense	probably benign	0.09

Posted On

2015-04-16