Mutagenetix > Incidental Mutation

Incidental Mutation 'R1629:Khdc1a'

172651

Institutional Source

Beutler Lab

Gene Symbol

Khdc1a

Ensembl Gene

ENSMUSG00000067750

Gene Name

KH domain containing 1A

Synonyms

Ndg1

MMRRC Submission

039666-MU

Accession Numbers

Essential gene?

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

Stock #

R1629 (G1)

Quality Score

108

Status

Not validated

Chromosome

Chromosomal Location

21419901-21422423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21421121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 102 (I102N)

Ref Sequence

ENSEMBL: ENSMUSP00000085749 (fasta)

Gene Model

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

AlphaFold

Q3UWR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088407
AA Change: I102N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000085749
Gene: ENSMUSG00000067750
AA Change: I102N

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: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 59,087,691 (GRCm39)	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
Cbx2	A	G	11: 118,919,806 (GRCm39)	D457G	probably damaging	Het
Ccdc110	A	G	8: 46,395,164 (GRCm39)	K352E	probably benign	Het
Cdk14	A	T	5: 5,153,807 (GRCm39)	H183Q	probably benign	Het
Cfap58	A	G	19: 47,929,778 (GRCm39)	T80A	probably benign	Het
Cftr	C	T	6: 18,226,105 (GRCm39)	T351I	probably damaging	Het
Col27a1	A	G	4: 63,248,100 (GRCm39)		probably benign	Het
Cp	T	A	3: 20,020,614 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,456,175 (GRCm39)	V196E	probably benign	Het
Dmxl1	T	G	18: 49,992,353 (GRCm39)		probably null	Het
Dnm2	T	A	9: 21,415,754 (GRCm39)	L642Q	probably damaging	Het
Dock2	G	T	11: 34,212,480 (GRCm39)		probably null	Het
Dock9	A	G	14: 121,780,986 (GRCm39)	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,645,063 (GRCm39)	V53A	probably damaging	Het
Fbl	G	T	7: 27,874,212 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,159,610 (GRCm39)	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,316,735 (GRCm39)	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,396,020 (GRCm39)	F348I	probably benign	Het
Klhl11	T	C	11: 100,355,012 (GRCm39)	T270A	probably benign	Het
Lama1	T	C	17: 68,112,423 (GRCm39)	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,663,523 (GRCm39)	E337G	possibly damaging	Het
Macf1	C	A	4: 123,402,208 (GRCm39)	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641 (GRCm39)	V209F	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh9	G	A	15: 77,648,601 (GRCm39)	R1725W	probably damaging	Het
Nbea	A	T	3: 55,910,312 (GRCm39)	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,610,769 (GRCm39)	A496T	probably benign	Het
Nufip2	A	G	11: 77,583,834 (GRCm39)	T583A	probably benign	Het
Or5m3b	A	G	2: 85,871,766 (GRCm39)	T36A	probably damaging	Het
Ppig	C	A	2: 69,566,217 (GRCm39)	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,257,208 (GRCm39)	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,271,528 (GRCm39)	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,065,068 (GRCm39)	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Slc1a7	A	G	4: 107,865,340 (GRCm39)	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,044,091 (GRCm39)	D221G	probably benign	Het
Smn1	C	A	13: 100,264,404 (GRCm39)	T45N	probably damaging	Het
Son	T	C	16: 91,454,510 (GRCm39)	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,491 (GRCm39)	Y45N	possibly damaging	Het
Tasor2	T	C	13: 3,624,121 (GRCm39)	H1943R	possibly damaging	Het
Tmem184c	A	C	8: 78,329,551 (GRCm39)	F170V	possibly damaging	Het
Tmem184c	A	T	8: 78,332,791 (GRCm39)		probably null	Het
Vmn1r59	C	T	7: 5,457,466 (GRCm39)	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,690,386 (GRCm39)	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,287,645 (GRCm39)	S493P	possibly damaging	Het

Other mutations in Khdc1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02090:Khdc1a	APN	1	21,421,212 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGGAAAGATGGTTCACACCCAC -3'
(R):5'- ACCAATGGAGGTCTGCGAAGTTATG -3'

Sequencing Primer
(F):5'- tgctgggaattgaaatttggac -3'
(R):5'- GGTCTGCGAAGTTATGAATACC -3'

Posted On

2014-04-24