Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02090:Khdc1a'

279406

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Khdc1a

Ensembl Gene

ENSMUSG00000067750

Gene Name

KH domain containing 1A

Synonyms

Ndg1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02090

Quality Score

Status

Chromosome

Chromosomal Location

21419901-21422423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21421212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 132 (F132L)

Ref Sequence

ENSEMBL: ENSMUSP00000085749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088407]

AlphaFold

Q3UWR2

Predicted Effect

probably benign
Transcript: ENSMUST00000088407
AA Change: F132L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000085749
Gene: ENSMUSG00000067750
AA Change: F132L

Domain	Start	End	E-Value	Type
Pfam:MOEP19	6	92	3.2e-25	PFAM
transmembrane domain	136	158	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148174

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace2	A	G	X: 162,968,701 (GRCm39)	T482A	probably damaging	Het
Adh1	T	C	3: 137,988,546 (GRCm39)	I173T	possibly damaging	Het
Apoa1	T	C	9: 46,140,548 (GRCm39)	S60P	possibly damaging	Het
Blnk	A	G	19: 40,922,929 (GRCm39)	V396A	probably benign	Het
Borcs8	A	G	8: 70,619,030 (GRCm39)	D204G	probably damaging	Het
Calhm5	G	A	10: 33,972,261 (GRCm39)	P58L	probably damaging	Het
Cbfa2t2	A	G	2: 154,373,336 (GRCm39)		probably benign	Het
Cdkal1	T	G	13: 29,701,493 (GRCm39)	I319L	probably benign	Het
Celsr1	T	A	15: 85,791,922 (GRCm39)	T2560S	possibly damaging	Het
Chd8	A	G	14: 52,464,691 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,689,932 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,866,876 (GRCm39)	N2265S	probably damaging	Het
Dnah5	C	T	15: 28,240,187 (GRCm39)		probably benign	Het
Epgn	G	A	5: 91,181,816 (GRCm39)	G133E	probably damaging	Het
Fdx2	C	A	9: 20,984,766 (GRCm39)	V13F	probably benign	Het
Gabarapl2	A	G	8: 112,667,831 (GRCm39)	Y25C	probably damaging	Het
Gigyf1	G	A	5: 137,523,826 (GRCm39)		probably null	Het
Gm6040	G	A	8: 21,407,169 (GRCm39)		probably benign	Het
Gm8229	T	C	14: 44,604,054 (GRCm39)	L81P	unknown	Het
Gstz1	A	G	12: 87,210,528 (GRCm39)	E137G	probably benign	Het
Htra1	T	C	7: 130,538,108 (GRCm39)	V36A	probably benign	Het
Ifnlr1	T	C	4: 135,432,578 (GRCm39)	V338A	probably benign	Het
Igsf8	A	G	1: 172,140,156 (GRCm39)		probably benign	Het
Kifc3	G	A	8: 95,829,108 (GRCm39)	S561L	probably damaging	Het
Mpi	T	C	9: 57,457,936 (GRCm39)	T89A	probably benign	Het
Ncor2	A	T	5: 125,111,467 (GRCm39)	M1281K	probably damaging	Het
Or4c117	T	C	2: 88,956,021 (GRCm39)	N18S	probably benign	Het
Or4k49	G	T	2: 111,495,333 (GRCm39)	C254F	probably damaging	Het
Or6c213	T	A	10: 129,574,181 (GRCm39)	I202L	probably benign	Het
Or6c66b	T	C	10: 129,377,176 (GRCm39)	Y257H	probably damaging	Het
Otog	G	A	7: 45,949,571 (GRCm39)	G2403D	probably damaging	Het
Pdgfb	C	A	15: 79,898,184 (GRCm39)	A6S	probably benign	Het
Pfkm	T	C	15: 98,021,121 (GRCm39)		probably null	Het
Plcb4	A	G	2: 135,789,041 (GRCm39)	M274V	probably benign	Het
Ppm1m	A	G	9: 106,074,001 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,304,041 (GRCm39)	D458G	possibly damaging	Het
Sertad3	C	T	7: 27,175,950 (GRCm39)	S128F	probably benign	Het
Sgo2b	A	T	8: 64,380,123 (GRCm39)	L903Q	probably damaging	Het
Slc15a5	C	T	6: 138,020,598 (GRCm39)	R245H	probably benign	Het
Slc24a5	A	T	2: 124,910,218 (GRCm39)	T40S	probably benign	Het
Smchd1	T	C	17: 71,738,248 (GRCm39)	N539S	possibly damaging	Het
Tlr11	A	G	14: 50,600,489 (GRCm39)	D825G	probably damaging	Het
Top3b	T	G	16: 16,709,334 (GRCm39)	V674G	possibly damaging	Het
Urb2	G	A	8: 124,754,976 (GRCm39)	V228I	probably benign	Het
Usp24	C	T	4: 106,268,623 (GRCm39)	A2061V	possibly damaging	Het
Wdr72	C	A	9: 74,062,212 (GRCm39)	H453N	possibly damaging	Het
Xkr9	T	C	1: 13,771,600 (GRCm39)	M372T	probably damaging	Het
Zc3h12d	T	G	10: 7,743,096 (GRCm39)	S289A	probably benign	Het
Zfp607b	A	T	7: 27,398,140 (GRCm39)	M75L	possibly damaging	Het

Other mutations in Khdc1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1169:Khdc1a	UTSW	1	21,420,495 (GRCm39)	missense	possibly damaging	0.51
R1389:Khdc1a	UTSW	1	21,420,251 (GRCm39)	missense	probably damaging	0.98
R1432:Khdc1a	UTSW	1	21,420,542 (GRCm39)	missense	possibly damaging	0.85
R1629:Khdc1a	UTSW	1	21,421,121 (GRCm39)	missense	possibly damaging	0.73
R1735:Khdc1a	UTSW	1	21,421,189 (GRCm39)	missense	probably benign	0.00
R2064:Khdc1a	UTSW	1	21,421,196 (GRCm39)	missense	probably benign	0.00
R2065:Khdc1a	UTSW	1	21,421,196 (GRCm39)	missense	probably benign	0.00
R4398:Khdc1a	UTSW	1	21,420,617 (GRCm39)	missense	possibly damaging	0.45
R4575:Khdc1a	UTSW	1	21,420,653 (GRCm39)	missense	probably damaging	0.97
R6030:Khdc1a	UTSW	1	21,421,108 (GRCm39)	missense	probably benign	0.01
R6030:Khdc1a	UTSW	1	21,421,108 (GRCm39)	missense	probably benign	0.01
R6183:Khdc1a	UTSW	1	21,420,332 (GRCm39)	missense	possibly damaging	0.80
R7492:Khdc1a	UTSW	1	21,420,542 (GRCm39)	missense	possibly damaging	0.93
R7861:Khdc1a	UTSW	1	21,420,623 (GRCm39)	missense	possibly damaging	0.52
R7982:Khdc1a	UTSW	1	21,421,130 (GRCm39)	missense	probably benign	0.15
R9600:Khdc1a	UTSW	1	21,421,204 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16