Mutagenetix > Incidental Mutation

Incidental Mutation 'R6183:Khdc1a'

487605

Institutional Source

Beutler Lab

Gene Symbol

Khdc1a

Ensembl Gene

ENSMUSG00000067750

Gene Name

KH domain containing 1A

Synonyms

Ndg1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21349641-21352200 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21350108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 30 (D30V)

Ref Sequence

ENSEMBL: ENSMUSP00000085749 (fasta)

Gene Model

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

AlphaFold

Q3UWR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088407
AA Change: D30V

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085749
Gene: ENSMUSG00000067750
AA Change: D30V

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976 (GRCm38)	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034 (GRCm38)	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718 (GRCm38)	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370 (GRCm38)	I972L	probably damaging	Het
Alg3	T	C	16: 20,610,641 (GRCm38)	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,981,752 (GRCm38)	G816D	probably damaging	Het
Ces1g	C	T	8: 93,331,239 (GRCm38)	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604 (GRCm38)	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790 (GRCm38)	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,275,568 (GRCm38)		probably benign	Het
Dnah12	T	A	14: 26,861,769 (GRCm38)	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258 (GRCm38)	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325 (GRCm38)	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317 (GRCm38)	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877 (GRCm38)	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644 (GRCm38)	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998 (GRCm38)		probably null	Het
Hnrnpll	A	G	17: 80,049,876 (GRCm38)	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868 (GRCm38)	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030 (GRCm38)	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436 (GRCm38)	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124 (GRCm38)	Q58K	probably damaging	Het
Iqcg	T	C	16: 33,030,923 (GRCm38)	Y226C	probably damaging	Het
Krtap5-5	C	A	7: 142,229,787 (GRCm38)	C42F	unknown	Het
Lmod3	T	C	6: 97,252,553 (GRCm38)	N7D	probably damaging	Het
Lvrn	A	G	18: 46,850,685 (GRCm38)	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,426,229 (GRCm38)	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,232 (GRCm38)	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731 (GRCm38)	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262 (GRCm38)	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852 (GRCm38)	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,458,129 (GRCm38)		probably benign	Het
Rgl1	C	T	1: 152,586,570 (GRCm38)	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491 (GRCm38)	W21R	probably benign	Het
Spast	A	G	17: 74,373,358 (GRCm38)	I438M	probably damaging	Het
Sptbn5	C	T	2: 120,059,417 (GRCm38)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm38)	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541 (GRCm38)	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,275,425 (GRCm38)	N439D	probably damaging	Het
Tjp2	C	T	19: 24,100,791 (GRCm38)	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757 (GRCm38)	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666 (GRCm38)	S1195T	probably damaging	Het
Usp54	T	C	14: 20,552,245 (GRCm38)	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290 (GRCm38)	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069 (GRCm38)	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558 (GRCm38)	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930 (GRCm38)	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370 (GRCm38)	I633N	possibly damaging	Het

Other mutations in Khdc1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02090:Khdc1a	APN	1	21,350,988 (GRCm38)	missense	probably benign	0.00
R1169:Khdc1a	UTSW	1	21,350,271 (GRCm38)	missense	possibly damaging	0.51
R1389:Khdc1a	UTSW	1	21,350,027 (GRCm38)	missense	probably damaging	0.98
R1432:Khdc1a	UTSW	1	21,350,318 (GRCm38)	missense	possibly damaging	0.85
R1629:Khdc1a	UTSW	1	21,350,897 (GRCm38)	missense	possibly damaging	0.73
R1735:Khdc1a	UTSW	1	21,350,965 (GRCm38)	missense	probably benign	0.00
R2064:Khdc1a	UTSW	1	21,350,972 (GRCm38)	missense	probably benign	0.00
R2065:Khdc1a	UTSW	1	21,350,972 (GRCm38)	missense	probably benign	0.00
R4398:Khdc1a	UTSW	1	21,350,393 (GRCm38)	missense	possibly damaging	0.45
R4575:Khdc1a	UTSW	1	21,350,429 (GRCm38)	missense	probably damaging	0.97
R6030:Khdc1a	UTSW	1	21,350,884 (GRCm38)	missense	probably benign	0.01
R6030:Khdc1a	UTSW	1	21,350,884 (GRCm38)	missense	probably benign	0.01
R7492:Khdc1a	UTSW	1	21,350,318 (GRCm38)	missense	possibly damaging	0.93
R7861:Khdc1a	UTSW	1	21,350,399 (GRCm38)	missense	possibly damaging	0.52
R7982:Khdc1a	UTSW	1	21,350,906 (GRCm38)	missense	probably benign	0.15
R9600:Khdc1a	UTSW	1	21,350,980 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGCCAGAACTGCCTTTCTAC -3'
(R):5'- TGGGTGTGAACCATCTTTCC -3'

Sequencing Primer
(F):5'- AGAACTGCCTTTCTACGGAGC -3'
(R):5'- GAACCATCTTTCCAGCTGGATGAG -3'

Posted On

2017-10-10