Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01106:Klhdc8a'

50279

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhdc8a

Ensembl Gene

ENSMUSG00000042115

Gene Name

kelch domain containing 8A

Synonyms

A630065K24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01106

Quality Score

Status

Chromosome

Chromosomal Location

132226364-132235095 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132232438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 321 (S321C)

Ref Sequence

ENSEMBL: ENSMUSP00000038297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046071]

AlphaFold

Q91XA8

Predicted Effect

probably benign
Transcript: ENSMUST00000046071
AA Change: S321C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000038297
Gene: ENSMUSG00000042115
AA Change: S321C

Domain	Start	End	E-Value	Type
Kelch	32	79	1.05e-11	SMART
Kelch	80	127	1.1e-1	SMART
Kelch	128	174	9.37e-2	SMART
Kelch	176	222	8.34e-6	SMART
Blast:Kelch	224	278	3e-9	BLAST
Kelch	279	326	6.82e-11	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 kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg13	T	C	2: 91,526,297 (GRCm39)	D12G	probably damaging	Het
Cmya5	A	G	13: 93,221,120 (GRCm39)	L3163P	probably damaging	Het
Cntn2	A	G	1: 132,449,622 (GRCm39)		probably benign	Het
Ddx23	C	T	15: 98,548,821 (GRCm39)	R327Q	probably benign	Het
Dlec1	G	A	9: 118,931,853 (GRCm39)	E91K	probably benign	Het
Fam13c	T	C	10: 70,284,646 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,193,626 (GRCm39)	T1398A	possibly damaging	Het
Frem1	T	C	4: 82,840,494 (GRCm39)	T1793A	probably benign	Het
Gprc5b	T	C	7: 118,583,084 (GRCm39)	K262E	probably benign	Het
Hadh	A	T	3: 131,034,619 (GRCm39)	Y226N	possibly damaging	Het
Herc1	T	A	9: 66,383,720 (GRCm39)		probably benign	Het
Ikbke	A	G	1: 131,187,792 (GRCm39)		probably benign	Het
Iqcg	T	A	16: 32,855,970 (GRCm39)	I202L	possibly damaging	Het
Kank3	G	A	17: 34,036,375 (GRCm39)	G81E	probably damaging	Het
Kcna3	A	G	3: 106,945,180 (GRCm39)	E481G	possibly damaging	Het
Kdm1a	A	G	4: 136,299,639 (GRCm39)		probably benign	Het
Kntc1	A	G	5: 123,900,666 (GRCm39)	K255E	probably benign	Het
Lhfpl4	T	A	6: 113,170,824 (GRCm39)	T121S	probably benign	Het
Lsm11	G	A	11: 45,824,490 (GRCm39)	Q346*	probably null	Het
Mcoln3	A	G	3: 145,843,019 (GRCm39)	T368A	probably benign	Het
Nlrp4g	A	T	9: 124,350,452 (GRCm38)		noncoding transcript	Het
Nol8	A	G	13: 49,807,957 (GRCm39)	I58V	possibly damaging	Het
Or5al6	C	T	2: 85,976,560 (GRCm39)	V173M	probably benign	Het
Phactr4	A	G	4: 132,098,116 (GRCm39)	F384S	probably benign	Het
Prkg1	T	A	19: 30,562,678 (GRCm39)	I509L	probably benign	Het
Rims1	T	A	1: 22,449,671 (GRCm39)	D1019V	probably damaging	Het
Sclt1	T	C	3: 41,629,754 (GRCm39)		probably benign	Het
Sntg2	T	A	12: 30,307,987 (GRCm39)	K233*	probably null	Het
Syt5	T	C	7: 4,544,156 (GRCm39)	T295A	probably damaging	Het

Other mutations in Klhdc8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Klhdc8a	APN	1	132,230,756 (GRCm39)	missense	probably benign
IGL02512:Klhdc8a	APN	1	132,230,895 (GRCm39)	critical splice donor site	probably null
R0015:Klhdc8a	UTSW	1	132,230,743 (GRCm39)	missense	probably damaging	0.99
R1442:Klhdc8a	UTSW	1	132,230,385 (GRCm39)	missense	possibly damaging	0.94
R1845:Klhdc8a	UTSW	1	132,231,548 (GRCm39)	missense	possibly damaging	0.80
R4857:Klhdc8a	UTSW	1	132,230,843 (GRCm39)	missense	probably damaging	1.00
R6357:Klhdc8a	UTSW	1	132,230,891 (GRCm39)	missense	probably damaging	0.99
R7226:Klhdc8a	UTSW	1	132,230,344 (GRCm39)	missense	probably damaging	1.00
R7427:Klhdc8a	UTSW	1	132,230,705 (GRCm39)	missense	probably damaging	1.00
R8039:Klhdc8a	UTSW	1	132,230,846 (GRCm39)	missense	probably benign	0.44
R8243:Klhdc8a	UTSW	1	132,230,304 (GRCm39)	missense	possibly damaging	0.95

Posted On

2013-06-21