Mutagenetix > Incidental Mutation

Incidental Mutation 'R0015:Klhdc8a'

216008

Institutional Source

Beutler Lab

Gene Symbol

Klhdc8a

Ensembl Gene

ENSMUSG00000042115

Gene Name

kelch domain containing 8A

Synonyms

A630065K24Rik

MMRRC Submission

038310-MU

Accession Numbers

Essential gene?

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

Stock #

R0015 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

132226364-132235095 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132230743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 203 (T203A)

Ref Sequence

ENSEMBL: ENSMUSP00000038297 (fasta)

Gene Model

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

AlphaFold

Q91XA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000046071
AA Change: T203A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038297
Gene: ENSMUSG00000042115
AA Change: T203A

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

Meta Mutation Damage Score

0.3655

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

97% (71/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130050O07Rik	A	G	1: 137,856,394 (GRCm39)	Y23C	unknown	Het
Adcy3	G	A	12: 4,245,260 (GRCm39)		probably null	Het
Aldh6a1	G	A	12: 84,488,554 (GRCm39)	L86F	probably damaging	Het
Arl10	G	T	13: 54,723,770 (GRCm39)		probably benign	Het
Armc3	A	G	2: 19,301,132 (GRCm39)		probably null	Het
Astn2	T	G	4: 66,184,619 (GRCm39)		probably null	Het
Cacna1d	G	A	14: 29,836,928 (GRCm39)	T804I	probably benign	Het
Ccny	A	C	18: 9,316,682 (GRCm39)		probably benign	Het
Cdh5	C	T	8: 104,867,559 (GRCm39)	T612I	probably benign	Het
Cfap58	A	G	19: 48,017,539 (GRCm39)	M800V	probably benign	Het
Clrn1	A	T	3: 58,753,848 (GRCm39)	I171K	probably damaging	Het
Cnp	T	A	11: 100,469,734 (GRCm39)		probably null	Het
Col12a1	T	C	9: 79,558,667 (GRCm39)	T1933A	probably damaging	Het
Cplane1	G	A	15: 8,215,668 (GRCm39)	R408H	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666 (GRCm39)	S660G	probably benign	Het
Dync1i2	C	A	2: 71,044,828 (GRCm39)	R13S	probably damaging	Het
Eps8l1	A	T	7: 4,480,556 (GRCm39)		probably benign	Het
Espn	T	C	4: 152,223,609 (GRCm39)	T188A	possibly damaging	Het
F2	T	C	2: 91,460,952 (GRCm39)	E260G	probably benign	Het
Fat4	T	A	3: 39,036,652 (GRCm39)	S3435T	probably damaging	Het
Fchsd1	A	G	18: 38,096,012 (GRCm39)	C533R	probably benign	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Gls2	T	G	10: 128,045,219 (GRCm39)	L572R	probably damaging	Het
Gm20939	A	T	17: 95,184,196 (GRCm39)	E281D	probably benign	Het
Gpr35	T	G	1: 92,910,954 (GRCm39)	L222W	probably damaging	Het
Hsf5	C	A	11: 87,548,161 (GRCm39)	H615N	probably benign	Het
Id2	C	T	12: 25,145,802 (GRCm39)	D70N	probably damaging	Het
Ints2	T	C	11: 86,140,113 (GRCm39)	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,570,080 (GRCm39)	D631A	probably damaging	Het
Lama4	C	T	10: 38,951,432 (GRCm39)	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,462,179 (GRCm39)	L226P	probably damaging	Het
Lifr	T	A	15: 7,217,667 (GRCm39)		probably null	Het
Lonp1	T	A	17: 56,925,406 (GRCm39)	Q462L	probably benign	Het
Lypd1	A	G	1: 125,838,175 (GRCm39)	V48A	possibly damaging	Het
Mapkapk2	A	G	1: 131,025,063 (GRCm39)	I67T	possibly damaging	Het
Mbd3l1	A	T	9: 18,396,154 (GRCm39)	D93V	probably benign	Het
Mdh1b	T	C	1: 63,760,959 (GRCm39)		probably benign	Het
Myh7b	C	T	2: 155,464,206 (GRCm39)	P569L	probably damaging	Het
Ncapd3	C	A	9: 26,963,105 (GRCm39)	A470E	probably damaging	Het
Ndrg2	A	G	14: 52,147,902 (GRCm39)		probably benign	Het
Nprl2	A	T	9: 107,421,618 (GRCm39)	I209F	probably damaging	Het
Ntrk1	A	G	3: 87,699,057 (GRCm39)		probably benign	Het
Olfm2	T	C	9: 20,580,037 (GRCm39)	E268G	probably damaging	Het
Or8b37	T	A	9: 37,958,963 (GRCm39)	Y148*	probably null	Het
Pcf11	T	A	7: 92,307,525 (GRCm39)	H881L	probably benign	Het
Pde10a	A	G	17: 9,196,029 (GRCm39)	D640G	probably damaging	Het
Pde9a	G	A	17: 31,605,330 (GRCm39)		probably null	Het
Pianp	G	T	6: 124,978,503 (GRCm39)	G236V	probably damaging	Het
Polr2g	A	G	19: 8,771,016 (GRCm39)	I160T	probably damaging	Het
Ppp1r3a	A	G	6: 14,717,660 (GRCm39)	S1085P	possibly damaging	Het
Pter	G	A	2: 13,005,811 (GRCm39)	G328D	probably damaging	Het
Rad51	T	A	2: 118,946,808 (GRCm39)	M5K	probably benign	Het
Rbm43	T	A	2: 51,815,679 (GRCm39)	I181F	probably benign	Het
Rgs12	T	C	5: 35,180,120 (GRCm39)		probably benign	Het
Rnf213	A	C	11: 119,332,432 (GRCm39)	D2547A	possibly damaging	Het
Slc20a2	C	A	8: 23,025,361 (GRCm39)	A21E	probably damaging	Het
Stab2	A	G	10: 86,679,481 (GRCm39)	S2503P	probably benign	Het
Sv2b	A	T	7: 74,775,389 (GRCm39)	F479L	probably damaging	Het
Sybu	T	C	15: 44,536,896 (GRCm39)	R349G	probably damaging	Het
Tead3	T	C	17: 28,560,325 (GRCm39)	Y2C	probably damaging	Het
Tnrc6c	T	A	11: 117,612,284 (GRCm39)	N307K	probably damaging	Het
Ubxn11	C	G	4: 133,843,336 (GRCm39)		probably null	Het
Ust	T	C	10: 8,205,829 (GRCm39)		probably benign	Het
Vmn2r116	T	A	17: 23,620,823 (GRCm39)	N852K	probably benign	Het
Zgrf1	T	C	3: 127,349,046 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- GGGGATAATCACATTGCCCTAGCC -3'
(R):5'- GCCGTAAGTTAGGAAGGATGCTCAG -3'

Sequencing Primer
(F):5'- TCTTTCAAAGGACTGAATAACAGAAG -3'
(R):5'- TGCCTGGATATGTAAGCAGCC -3'

Posted On

2014-07-17