Mutagenetix > Incidental Mutation

Incidental Mutation 'R3808:Klhdc3'

275068

Institutional Source

Beutler Lab

Gene Symbol

Klhdc3

Ensembl Gene

ENSMUSG00000063576

Gene Name

kelch domain containing 3

Synonyms

Peas, 1300011D16Rik

MMRRC Submission

040765-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R3808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46985476-46991840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46988858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 111 (N111Y)

Ref Sequence

ENSEMBL: ENSMUSP00000128271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002845] [ENSMUST00000024766] [ENSMUST00000071841] [ENSMUST00000165007]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002845

SMART Domains

Protein: ENSMUSP00000002845
Gene: ENSMUSG00000002768

Domain	Start	End	E-Value	Type
Pfam:MEA1	1	174	1.6e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000024766

SMART Domains

Protein: ENSMUSP00000024766
Gene: ENSMUSG00000023971

Domain	Start	End	E-Value	Type
Pfam:DUF947	55	219	7.6e-53	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071841
AA Change: N111Y

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071743
Gene: ENSMUSG00000063576
AA Change: N111Y

Domain	Start	End	E-Value	Type
Pfam:Kelch_1	13	63	1.6e-8	PFAM
Pfam:Kelch_2	13	63	2.2e-9	PFAM
Pfam:Kelch_4	13	65	3.8e-8	PFAM
Pfam:Kelch_6	13	67	9.6e-11	PFAM
Pfam:Kelch_5	73	113	3.1e-8	PFAM
Pfam:Kelch_1	76	117	1.9e-7	PFAM
Pfam:Kelch_6	76	121	1.7e-9	PFAM
Pfam:Kelch_2	77	121	2.1e-8	PFAM
Pfam:Kelch_4	77	125	4.6e-11	PFAM
Pfam:Kelch_3	86	136	1.3e-12	PFAM
Pfam:Kelch_1	127	172	1.5e-10	PFAM
Pfam:Kelch_6	127	173	2e-10	PFAM
Pfam:Kelch_2	127	174	4.7e-14	PFAM
Pfam:Kelch_4	127	177	1.3e-10	PFAM
Pfam:Kelch_2	179	231	2.4e-8	PFAM
Pfam:Kelch_1	180	233	5.8e-9	PFAM
Pfam:Kelch_3	189	247	7.3e-8	PFAM
Pfam:Kelch_5	235	276	1.2e-11	PFAM
Pfam:Kelch_1	238	284	2.7e-8	PFAM
Pfam:Kelch_6	238	293	2.4e-12	PFAM
Pfam:Kelch_3	248	299	4.2e-10	PFAM
low complexity region	322	333	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165007
AA Change: N111Y

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128271
Gene: ENSMUSG00000063576
AA Change: N111Y

Domain	Start	End	E-Value	Type
Pfam:Kelch_1	13	63	9.9e-10	PFAM
Pfam:Kelch_2	13	63	2.2e-9	PFAM
Pfam:Kelch_6	13	66	7.5e-11	PFAM
Pfam:Kelch_4	13	71	1.4e-8	PFAM
Pfam:Kelch_5	73	113	3e-8	PFAM
Pfam:Kelch_1	76	118	2.6e-8	PFAM
Pfam:Kelch_6	76	121	1.1e-10	PFAM
Pfam:Kelch_4	76	126	2e-11	PFAM
Pfam:Kelch_2	77	121	2.1e-8	PFAM
Pfam:Kelch_3	86	136	7.7e-12	PFAM
Pfam:Kelch_1	127	170	1.2e-8	PFAM
Pfam:Kelch_2	127	174	4.7e-14	PFAM
Pfam:Kelch_4	127	177	1.7e-7	PFAM
Pfam:Kelch_2	179	231	2.4e-8	PFAM
Pfam:Kelch_6	179	239	2.5e-9	PFAM
Pfam:Kelch_1	180	232	3.4e-8	PFAM
Pfam:Kelch_3	189	247	5.7e-8	PFAM
Pfam:Kelch_5	235	276	4.3e-10	PFAM
Pfam:Kelch_1	238	285	9.3e-10	PFAM
Pfam:Kelch_4	238	291	9.9e-8	PFAM
Pfam:Kelch_6	238	293	2.5e-12	PFAM
Pfam:Kelch_3	248	299	1.1e-9	PFAM
low complexity region	322	333	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aldh3a2	G	T	11: 61,149,623 (GRCm39)	L248M	probably damaging	Het
Als2	A	G	1: 59,209,609 (GRCm39)	S1458P	probably benign	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
Arhgap5	A	G	12: 52,613,970 (GRCm39)	E192G	possibly damaging	Het
Atg2a	A	G	19: 6,302,846 (GRCm39)	K1019R	possibly damaging	Het
Atp2b1	A	G	10: 98,839,010 (GRCm39)	K613E	possibly damaging	Het
Carm1	T	C	9: 21,498,258 (GRCm39)	C421R	probably damaging	Het
Cdh17	A	T	4: 11,795,671 (GRCm39)	Y417F	probably damaging	Het
Cers1	A	G	8: 70,782,660 (GRCm39)	D10G	possibly damaging	Het
Clptm1l	A	C	13: 73,760,573 (GRCm39)	M319L	probably benign	Het
Cntnap3	A	G	13: 64,929,618 (GRCm39)	V527A	probably damaging	Het
Creb3l2	A	G	6: 37,332,625 (GRCm39)	S290P	probably damaging	Het
Dock4	T	G	12: 40,722,809 (GRCm39)	V305G	probably damaging	Het
Dtl	A	C	1: 191,280,466 (GRCm39)	L356R	probably damaging	Het
Eftud2	A	T	11: 102,732,289 (GRCm39)		probably null	Het
Eif2b4	A	G	5: 31,348,512 (GRCm39)	S88P	possibly damaging	Het
Fat4	T	G	3: 39,036,587 (GRCm39)	V3413G	possibly damaging	Het
Fgfr2	T	C	7: 129,801,578 (GRCm39)	M218V	probably benign	Het
Grin2b	A	G	6: 135,900,269 (GRCm39)	L204P	probably damaging	Het
Kcnj12	A	G	11: 60,961,103 (GRCm39)	N467S	probably benign	Het
Lin9	A	G	1: 180,486,676 (GRCm39)	I81V	probably null	Het
Lrp2	T	C	2: 69,331,892 (GRCm39)	D1621G	probably damaging	Het
Lrp4	T	A	2: 91,307,047 (GRCm39)	D389E	probably damaging	Het
Med15	C	T	16: 17,473,598 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,625,269 (GRCm39)	N2274S	probably benign	Het
Nr3c2	G	A	8: 77,635,343 (GRCm39)	G148D	probably damaging	Het
Or10s1	A	T	9: 39,985,605 (GRCm39)	M5L	probably benign	Het
Or14j6	T	C	17: 38,214,464 (GRCm39)	V9A	probably benign	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Paxip1	A	G	5: 27,977,027 (GRCm39)		probably benign	Het
Pfas	T	C	11: 68,880,779 (GRCm39)		probably benign	Het
Plin3	C	A	17: 56,593,275 (GRCm39)	A96S	probably damaging	Het
Pnck	T	A	X: 72,700,550 (GRCm39)	I288F	probably damaging	Het
Ppp4c	C	T	7: 126,386,499 (GRCm39)	G166D	probably damaging	Het
Prss43	A	T	9: 110,656,840 (GRCm39)	R115S	probably damaging	Het
Rassf2	T	C	2: 131,840,180 (GRCm39)		probably null	Het
Rdh16f1	T	A	10: 127,624,568 (GRCm39)	D135E	probably benign	Het
Rdh16f1	G	A	10: 127,624,569 (GRCm39)	V136M	probably damaging	Het
Rgs12	A	G	5: 35,189,698 (GRCm39)	E702G	probably damaging	Het
Rnf213	A	G	11: 119,370,384 (GRCm39)	K4728E	probably damaging	Het
Ros1	T	G	10: 51,996,944 (GRCm39)	T1243P	probably benign	Het
Sall1	G	A	8: 89,758,101 (GRCm39)	Q668*	probably null	Het
Sbf2	C	A	7: 110,088,487 (GRCm39)	*45L	probably null	Het
Serpina3j	A	T	12: 104,286,086 (GRCm39)	I414F	probably benign	Het
Sh2d3c	T	C	2: 32,636,108 (GRCm39)	Y159H	probably damaging	Het
Slamf1	A	G	1: 171,625,745 (GRCm39)	D307G	probably null	Het
Slc22a13	T	C	9: 119,025,143 (GRCm39)	T178A	probably benign	Het
Smchd1	A	T	17: 71,736,536 (GRCm39)	L588H	probably damaging	Het
Trim12a	G	A	7: 103,956,201 (GRCm39)	A113V	probably benign	Het
Vil1	T	C	1: 74,466,772 (GRCm39)	V654A	probably benign	Het
Vmn1r202	T	C	13: 22,686,070 (GRCm39)	T116A	possibly damaging	Het
Zfp267	T	G	3: 36,219,792 (GRCm39)		probably null	Het
Zfp607a	G	A	7: 27,578,826 (GRCm39)	R632H	probably benign	Het

Other mutations in Klhdc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02491:Klhdc3	APN	17	46,988,226 (GRCm39)	missense	possibly damaging	0.82
pinto	UTSW	17	46,988,972 (GRCm39)	missense	probably benign	0.36
shetland	UTSW	17	46,989,218 (GRCm39)	missense	possibly damaging	0.63
R0667:Klhdc3	UTSW	17	46,988,151 (GRCm39)	missense	probably benign	0.07
R0960:Klhdc3	UTSW	17	46,987,444 (GRCm39)	missense	possibly damaging	0.89
R1254:Klhdc3	UTSW	17	46,988,993 (GRCm39)	missense	probably benign
R1263:Klhdc3	UTSW	17	46,987,892 (GRCm39)	missense	probably benign	0.00
R1954:Klhdc3	UTSW	17	46,988,901 (GRCm39)	missense	probably damaging	1.00
R2093:Klhdc3	UTSW	17	46,988,879 (GRCm39)	missense	probably benign	0.00
R3809:Klhdc3	UTSW	17	46,988,858 (GRCm39)	missense	possibly damaging	0.89
R4409:Klhdc3	UTSW	17	46,987,944 (GRCm39)	missense	probably damaging	1.00
R4799:Klhdc3	UTSW	17	46,988,226 (GRCm39)	missense	possibly damaging	0.82
R5807:Klhdc3	UTSW	17	46,988,391 (GRCm39)	missense	probably damaging	0.98
R5958:Klhdc3	UTSW	17	46,986,028 (GRCm39)	missense	probably benign	0.12
R6152:Klhdc3	UTSW	17	46,988,633 (GRCm39)	missense	probably damaging	1.00
R6295:Klhdc3	UTSW	17	46,988,972 (GRCm39)	missense	probably benign	0.36
R6521:Klhdc3	UTSW	17	46,988,687 (GRCm39)	missense	probably benign	0.20
R6851:Klhdc3	UTSW	17	46,989,218 (GRCm39)	missense	possibly damaging	0.63
R7524:Klhdc3	UTSW	17	46,989,340 (GRCm39)	missense	probably damaging	0.99
R8790:Klhdc3	UTSW	17	46,991,626 (GRCm39)	critical splice donor site	probably benign
Z1177:Klhdc3	UTSW	17	46,987,677 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAAATGTACATGATCTTGCCCAGG -3'
(R):5'- TTGCGTTGGACAAAGCTGC -3'

Sequencing Primer
(F):5'- GGACACAAGCTGAATGTCCGTC -3'
(R):5'- AAAGCTGCCCCCAGTGAG -3'

Posted On

2015-04-02