Mutagenetix > Incidental Mutation

Incidental Mutation 'R6521:Klhdc3'

521326

Institutional Source

Beutler Lab

Gene Symbol

Klhdc3

Ensembl Gene

ENSMUSG00000063576

Gene Name

kelch domain containing 3

Synonyms

Peas, 1300011D16Rik

MMRRC Submission

044647-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R6521 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46985476-46991840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46988687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 124 (V124A)

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

probably benign
Transcript: ENSMUST00000071841
AA Change: V124A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071743
Gene: ENSMUSG00000063576
AA Change: V124A

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

probably benign
Transcript: ENSMUST00000165007
AA Change: V124A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128271
Gene: ENSMUSG00000063576
AA Change: V124A

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: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (48/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,769,968 (GRCm39)	S356T	probably benign	Het
Acsbg2	T	C	17: 57,168,565 (GRCm39)	M185V	probably benign	Het
Adgrv1	A	T	13: 81,581,771 (GRCm39)	F4758I	probably damaging	Het
Ank3	A	G	10: 69,828,596 (GRCm39)		probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ano4	A	G	10: 88,819,640 (GRCm39)	V537A	probably damaging	Het
Catsper2	A	G	2: 121,237,288 (GRCm39)	L204P	probably damaging	Het
Cdh20	A	C	1: 104,869,859 (GRCm39)	D193A	probably damaging	Het
Ceacam5	T	C	7: 17,484,756 (GRCm39)		probably null	Het
Celf4	T	A	18: 25,612,531 (GRCm39)		probably null	Het
Cfap91	A	G	16: 38,127,121 (GRCm39)	V545A	probably benign	Het
Crebbp	A	T	16: 3,936,992 (GRCm39)	F754I	probably damaging	Het
Cyfip2	A	T	11: 46,145,415 (GRCm39)	I635N	probably damaging	Het
Erbb4	T	A	1: 68,081,689 (GRCm39)	D1131V	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Hoxc8	G	A	15: 102,901,135 (GRCm39)	V193M	probably benign	Het
Klhl18	A	G	9: 110,257,703 (GRCm39)	I509T	possibly damaging	Het
Mdfic	T	A	6: 15,729,027 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,467,479 (GRCm39)	D64E	probably damaging	Het
Mmd2	A	G	5: 142,560,585 (GRCm39)	I112T	probably damaging	Het
Mpl	C	T	4: 118,312,314 (GRCm39)		probably null	Het
Mtmr4	A	G	11: 87,504,353 (GRCm39)	T1044A	possibly damaging	Het
Muc5b	C	A	7: 141,412,908 (GRCm39)	Y1951*	probably null	Het
Myo15a	C	T	11: 60,393,195 (GRCm39)	H2240Y	probably damaging	Het
Nckap5	A	T	1: 126,309,909 (GRCm39)	I74K	probably damaging	Het
Nfxl1	A	T	5: 72,697,651 (GRCm39)		probably null	Het
Or11j4	T	C	14: 50,631,005 (GRCm39)	V264A	possibly damaging	Het
Or2ah1	A	T	2: 85,653,794 (GRCm39)	I160F	probably benign	Het
Or4c11c	A	G	2: 88,661,700 (GRCm39)	I80V	probably benign	Het
Or8d2	C	T	9: 38,759,893 (GRCm39)	T161I	probably benign	Het
Piezo2	T	C	18: 63,154,399 (GRCm39)	Y2460C	probably damaging	Het
Pigx	A	G	16: 31,906,129 (GRCm39)	L64P	probably damaging	Het
Prss1	C	T	6: 41,440,615 (GRCm39)	T230I	probably damaging	Het
Ptma	A	G	1: 86,455,569 (GRCm39)		probably null	Het
Rab39	T	C	9: 53,617,331 (GRCm39)	T29A	probably benign	Het
Rem2	C	T	14: 54,715,144 (GRCm39)	A107V	possibly damaging	Het
Senp1	A	G	15: 97,946,152 (GRCm39)	V531A	probably damaging	Het
Serhl	A	G	15: 82,985,843 (GRCm39)		probably null	Het
Sirpa	T	G	2: 129,472,075 (GRCm39)	Y164D	probably damaging	Het
Slc12a3	T	C	8: 95,069,741 (GRCm39)	I550T	possibly damaging	Het
Slc22a14	T	C	9: 119,049,835 (GRCm39)		probably null	Het
Slfn5	A	G	11: 82,851,241 (GRCm39)	N513D	probably damaging	Het
Sptan1	T	C	2: 29,910,467 (GRCm39)	S1831P	possibly damaging	Het
Swap70	T	C	7: 109,855,027 (GRCm39)	L109P	probably benign	Het
Tas2r119	G	A	15: 32,178,319 (GRCm39)	C295Y	probably damaging	Het
Tcaf3	T	A	6: 42,570,172 (GRCm39)	I527L	probably damaging	Het
Traj31	A	G	14: 54,425,387 (GRCm39)		probably benign	Het
Unc5a	T	A	13: 55,152,748 (GRCm39)	D887E	probably benign	Het
Zfp407	T	A	18: 84,450,536 (GRCm39)	H1600L	probably damaging	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
R3808:Klhdc3	UTSW	17	46,988,858 (GRCm39)	missense	possibly damaging	0.89
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
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'- ATCCTGCCACTTAAATGGTGTC -3'
(R):5'- ACTCTACGCCTTTGATGTCAGTG -3'

Sequencing Primer
(F):5'- CCTGCCACTTAAATGGTGTCAATGG -3'
(R):5'- GAGTATGGGTCTCAAATGACACCTTG -3'

Posted On

2018-06-06