Mutagenetix > Incidental Mutation

Incidental Mutation 'R0963:Khdc1c'

81334

Institutional Source

Beutler Lab

Gene Symbol

Khdc1c

Ensembl Gene

ENSMUSG00000041722

Gene Name

KH domain containing 1C

Synonyms

MMRRC Submission

039092-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R0963 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21438555-21439967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21439833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 128 (N128S)

Ref Sequence

ENSEMBL: ENSMUSP00000068792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070223]

AlphaFold

Q4KL78

Predicted Effect

probably benign
Transcript: ENSMUST00000070223
AA Change: N128S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142979

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,722,451 (GRCm39)	D369G	probably damaging	Het
Adcy7	T	C	8: 89,038,893 (GRCm39)	V303A	probably damaging	Het
Afap1l1	A	T	18: 61,870,001 (GRCm39)	Y610N	probably damaging	Het
Agr3	T	A	12: 35,984,433 (GRCm39)	H53Q	probably benign	Het
Akr1d1	A	G	6: 37,507,209 (GRCm39)	I10M	probably damaging	Het
Atp4b	G	T	8: 13,440,014 (GRCm39)	H111N	probably benign	Het
Bbs7	G	T	3: 36,667,412 (GRCm39)	A8E	probably benign	Het
Bsn	C	T	9: 107,989,006 (GRCm39)	V2249M	possibly damaging	Het
Cpt1a	T	C	19: 3,431,634 (GRCm39)	S685P	probably damaging	Het
Dhx57	A	T	17: 80,582,956 (GRCm39)	H163Q	probably benign	Het
Duox2	A	C	2: 122,117,653 (GRCm39)	C894G	probably benign	Het
Ecm1	T	C	3: 95,643,900 (GRCm39)	T209A	possibly damaging	Het
Glo1	T	C	17: 30,819,085 (GRCm39)	N79S	probably benign	Het
Htra1	T	A	7: 130,584,009 (GRCm39)	M388K	possibly damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Jag2	C	T	12: 112,878,934 (GRCm39)	E496K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Lamc1	T	C	1: 153,119,132 (GRCm39)	N829S	probably benign	Het
Leprotl1	T	C	8: 34,606,189 (GRCm39)	Y33C	probably damaging	Het
Lypd11	A	T	7: 24,423,047 (GRCm39)	D90E	probably benign	Het
Map3k3	T	A	11: 106,014,618 (GRCm39)	S130T	probably benign	Het
Mip	C	T	10: 128,061,854 (GRCm39)	A35V	probably benign	Het
Ms4a19	T	C	19: 11,118,921 (GRCm39)	T63A	possibly damaging	Het
Myh15	A	G	16: 48,952,512 (GRCm39)	R861G	probably damaging	Het
Myom1	A	C	17: 71,384,762 (GRCm39)	I718L	possibly damaging	Het
Naip6	C	T	13: 100,452,983 (GRCm39)	R26H	probably benign	Het
Or52e4	G	A	7: 104,706,179 (GRCm39)	C242Y	probably damaging	Het
Pde6b	A	G	5: 108,578,534 (GRCm39)	E824G	probably benign	Het
Pramel24	T	A	4: 143,453,678 (GRCm39)	I262N	possibly damaging	Het
Rbm19	T	G	5: 120,268,799 (GRCm39)	S476A	possibly damaging	Het
Rpl39l	T	A	16: 9,992,162 (GRCm39)		probably null	Het
Sec24b	A	G	3: 129,834,554 (GRCm39)	S79P	probably benign	Het
Slc15a2	G	A	16: 36,594,935 (GRCm39)	A146V	probably damaging	Het
Slmap	T	C	14: 26,189,675 (GRCm39)	Y161C	probably damaging	Het
Smc4	T	A	3: 68,933,259 (GRCm39)	C652S	probably damaging	Het
Stab1	A	G	14: 30,869,231 (GRCm39)	I1499T	probably damaging	Het
Tnnt1	A	G	7: 4,510,594 (GRCm39)	L209P	probably damaging	Het
Trim52	T	G	14: 106,344,973 (GRCm39)	S210R	probably benign	Het
Tsc22d1	T	A	14: 76,656,039 (GRCm39)	N82K	possibly damaging	Het
Wdr75	T	C	1: 45,856,470 (GRCm39)	Y498H	probably benign	Het
Zfp955a	C	T	17: 33,462,726 (GRCm39)	S56N	probably benign	Het

Other mutations in Khdc1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Khdc1c	APN	1	21,439,130 (GRCm39)	missense	possibly damaging	0.93
R1905:Khdc1c	UTSW	1	21,439,281 (GRCm39)	missense	probably benign	0.00
R5771:Khdc1c	UTSW	1	21,439,266 (GRCm39)	missense	possibly damaging	0.51
R6886:Khdc1c	UTSW	1	21,439,749 (GRCm39)	missense	possibly damaging	0.96
R7881:Khdc1c	UTSW	1	21,439,899 (GRCm39)	missense	probably benign	0.01
R9742:Khdc1c	UTSW	1	21,439,945 (GRCm39)	missense	probably benign	0.01
Z1176:Khdc1c	UTSW	1	21,439,787 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGTAAAGCACCATACCTCCTGAAG -3'
(R):5'- AAGGCCGATGAAACACCTGTCC -3'

Sequencing Primer
(F):5'- GCCTCTGGGTCATCTGGTAAAC -3'
(R):5'- TGAAACACCTGTCCCCCAC -3'

Posted On

2013-11-07