Mutagenetix > Incidental Mutation

Incidental Mutation 'R6357:Klhdc8a'

512363

Institutional Source

Beutler Lab

Gene Symbol

Klhdc8a

Ensembl Gene

ENSMUSG00000042115

Gene Name

kelch domain containing 8A

Synonyms

A630065K24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R6357 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132226364-132235095 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132230891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 252 (Q252L)

Ref Sequence

ENSEMBL: ENSMUSP00000038297 (fasta)

Gene Model

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

AlphaFold

Q91XA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000046071
AA Change: Q252L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038297
Gene: ENSMUSG00000042115
AA Change: Q252L

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

1x: 100.0%
3x: 99.7%
10x: 97.8%
20x: 92.8%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	C	17: 57,184,591 (GRCm39)		probably null	Het
Aoc1l2	A	G	6: 48,907,908 (GRCm39)	M303V	probably benign	Het
Armh4	A	T	14: 50,010,769 (GRCm39)	S313T	probably benign	Het
Calcr	T	C	6: 3,714,710 (GRCm39)	D140G	probably benign	Het
Card10	T	C	15: 78,683,579 (GRCm39)	E188G	probably damaging	Het
Cenpq	T	C	17: 41,235,418 (GRCm39)	E193G	probably damaging	Het
Cep164	G	A	9: 45,682,182 (GRCm39)	L1874F	probably damaging	Het
Dennd3	T	C	15: 73,428,321 (GRCm39)	M889T	possibly damaging	Het
Dnah9	T	C	11: 65,765,022 (GRCm39)	K3841E	probably damaging	Het
Dynlt2b	T	G	16: 32,247,873 (GRCm39)		probably null	Het
Eci2	A	G	13: 35,177,082 (GRCm39)	V26A	possibly damaging	Het
Eftud2	A	T	11: 102,755,606 (GRCm39)	N200K	probably damaging	Het
Eml5	T	A	12: 98,837,143 (GRCm39)	H357L	probably damaging	Het
Esam	T	C	9: 37,449,076 (GRCm39)	*395R	probably null	Het
Galt	C	T	4: 41,757,565 (GRCm39)	P246S	probably benign	Het
Gjb3	A	T	4: 127,220,423 (GRCm39)	Y36*	probably null	Het
Gli2	T	C	1: 118,769,689 (GRCm39)	E621G	probably damaging	Het
Gls	T	C	1: 52,258,665 (GRCm39)	D201G	probably damaging	Het
Gm10801	C	CGTCA	2: 98,494,152 (GRCm39)		probably null	Het
Gm1110	T	C	9: 26,825,424 (GRCm39)		probably null	Het
Gm5565	T	A	5: 146,097,283 (GRCm39)	H13L	possibly damaging	Het
Hydin	A	C	8: 111,268,289 (GRCm39)	T2923P	possibly damaging	Het
Kank1	A	T	19: 25,388,717 (GRCm39)	I797L	probably benign	Het
Kmt5c	T	C	7: 4,745,204 (GRCm39)	F65S	possibly damaging	Het
Lix1	C	T	17: 17,666,255 (GRCm39)	P138L	probably benign	Het
Lnpep	T	C	17: 17,773,176 (GRCm39)	N664S	probably benign	Het
Msh6	T	A	17: 88,291,888 (GRCm39)	Y214*	probably null	Het
Nefl	A	G	14: 68,321,767 (GRCm39)	E119G	probably damaging	Het
Nptxr	C	A	15: 79,678,516 (GRCm39)	R257L	possibly damaging	Het
Or4k15c	C	A	14: 50,321,446 (GRCm39)	A231S	probably damaging	Het
Or7e173	T	A	9: 19,938,925 (GRCm39)	Q103L	probably damaging	Het
Oxct2b	A	G	4: 123,010,709 (GRCm39)	I210V	probably benign	Het
Plppr3	T	A	10: 79,701,240 (GRCm39)	Q534L	probably benign	Het
Psma1	T	C	7: 113,873,602 (GRCm39)		probably null	Het
Rbp3	G	A	14: 33,678,991 (GRCm39)	A980T	probably damaging	Het
Ripply2	T	A	9: 86,898,331 (GRCm39)	S58R	possibly damaging	Het
Robo1	T	C	16: 72,767,190 (GRCm39)	V454A	probably benign	Het
Sacs	A	G	14: 61,446,273 (GRCm39)	D2773G	possibly damaging	Het
Sirpb1b	A	T	3: 15,568,243 (GRCm39)	V366E	possibly damaging	Het
Slc5a7	T	C	17: 54,594,389 (GRCm39)	I197M	probably benign	Het
Spata31f1a	T	A	4: 42,850,393 (GRCm39)	I588F	probably damaging	Het
Spmap2	T	C	10: 79,422,789 (GRCm39)	S38G	probably benign	Het
Srgap2	T	C	1: 131,283,280 (GRCm39)	Y267C	probably damaging	Het
Ssc4d	T	C	5: 135,994,950 (GRCm39)	T189A	probably benign	Het
Tas2r106	A	G	6: 131,654,925 (GRCm39)	*309Q	probably null	Het
Vmn2r44	T	C	7: 8,373,657 (GRCm39)	M511V	probably benign	Het
Wdfy4	G	T	14: 32,823,006 (GRCm39)	Y1364*	probably null	Het
Zbtb8a	T	C	4: 129,248,092 (GRCm39)	H393R	probably benign	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
IGL01106:Klhdc8a	APN	1	132,232,438 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TATAGAGTCTCGGTCCTGGAC -3'
(R):5'- CTGCACAAATACTGGGGATGG -3'

Sequencing Primer
(F):5'- GTCCTGGACCAAGTTCCCC -3'
(R):5'- CAGGCCAAAGGAGCCTTG -3'

Posted On

2018-04-27