Incidental Mutation 'R1263:Klhdc3'
ID 151689
Institutional Source Beutler Lab
Gene Symbol Klhdc3
Ensembl Gene ENSMUSG00000063576
Gene Name kelch domain containing 3
Synonyms Peas, 1300011D16Rik
MMRRC Submission 039330-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R1263 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 46985476-46991840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46987892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 266 (H266Q)
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

DomainStartEndE-ValueType
Pfam:MEA1 1 174 1.6e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000024766
SMART Domains Protein: ENSMUSP00000024766
Gene: ENSMUSG00000023971

DomainStartEndE-ValueType
Pfam:DUF947 55 219 7.6e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071841
AA Change: H266Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071743
Gene: ENSMUSG00000063576
AA Change: H266Q

DomainStartEndE-ValueType
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: H266Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128271
Gene: ENSMUSG00000063576
AA Change: H266Q

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A C 11: 109,832,433 (GRCm39) H1231Q possibly damaging Het
Acbd4 T A 11: 102,994,677 (GRCm39) probably null Het
Atp13a4 T A 16: 29,290,771 (GRCm39) Y226F possibly damaging Het
Brd3 A C 2: 27,352,534 (GRCm39) F132C probably damaging Het
Btaf1 A T 19: 36,933,924 (GRCm39) N184I probably benign Het
Ccdc180 A G 4: 45,903,887 (GRCm39) E351G possibly damaging Het
Ccdc185 A T 1: 182,574,918 (GRCm39) Y590* probably null Het
Chi3l1 G A 1: 134,116,980 (GRCm39) E315K probably benign Het
Col6a6 T A 9: 105,586,688 (GRCm39) M1778L probably benign Het
Cyp3a59 A C 5: 146,041,521 (GRCm39) Y355S probably damaging Het
Cyp4a31 A G 4: 115,431,908 (GRCm39) T396A probably benign Het
Dnaaf6rt A T 1: 31,262,296 (GRCm39) I93F probably damaging Het
Dnah6 A T 6: 73,121,948 (GRCm39) I1373N probably damaging Het
Dop1b C A 16: 93,574,274 (GRCm39) H1598N probably benign Het
Erich4 T A 7: 25,314,559 (GRCm39) K118M probably damaging Het
Gkap1 A T 13: 58,403,587 (GRCm39) V179E probably benign Het
Gpr107 T G 2: 31,068,267 (GRCm39) I243S possibly damaging Het
Hs3st6 A G 17: 24,977,504 (GRCm39) N328S probably damaging Het
Kcnq5 A T 1: 21,549,602 (GRCm39) I375N probably damaging Het
Krt71 C T 15: 101,643,901 (GRCm39) G446R probably damaging Het
L3mbtl2 A G 15: 81,567,169 (GRCm39) T423A probably benign Het
Mical3 T C 6: 120,929,430 (GRCm39) E1812G probably damaging Het
Nlrp1a A G 11: 70,987,948 (GRCm39) I1174T probably benign Het
Npas2 C A 1: 39,373,849 (GRCm39) Q450K possibly damaging Het
Nrp1 T A 8: 129,194,870 (GRCm39) I442N probably damaging Het
Or1j10 T A 2: 36,267,006 (GRCm39) S73T probably damaging Het
Or2y1 A T 11: 49,385,848 (GRCm39) M163L probably benign Het
Palld TGCGTAGCG TGCG 8: 61,966,491 (GRCm39) probably null Het
Pold3 T A 7: 99,768,890 (GRCm39) Q36L possibly damaging Het
Polg T C 7: 79,109,534 (GRCm39) T428A probably benign Het
Rfx7 T A 9: 72,484,329 (GRCm39) V57E possibly damaging Het
Rnf122 T G 8: 31,602,177 (GRCm39) M1R probably null Het
Sanbr A T 11: 23,570,278 (GRCm39) Y207* probably null Het
Scn10a T A 9: 119,446,799 (GRCm39) T1410S probably damaging Het
Serpinb13 T A 1: 106,928,466 (GRCm39) V362E probably damaging Het
Setdb1 T C 3: 95,234,922 (GRCm39) N927S probably damaging Het
Sft2d1 A G 17: 8,539,470 (GRCm39) K91R probably benign Het
Shprh A G 10: 11,035,274 (GRCm39) H327R probably damaging Het
Slc9b2 C A 3: 135,042,156 (GRCm39) H478Q probably benign Het
Styxl1 G T 5: 135,782,737 (GRCm39) S117R probably damaging Het
Synj2 T C 17: 6,069,634 (GRCm39) F150L probably damaging Het
Tep1 C A 14: 51,082,970 (GRCm39) V1013L possibly damaging Het
Tgfbi T A 13: 56,778,468 (GRCm39) L413Q probably damaging Het
Tmc5 G A 7: 118,266,093 (GRCm39) R789Q probably damaging Het
Tonsl T A 15: 76,506,762 (GRCm39) I115F possibly damaging Het
Trim38 A G 13: 23,975,117 (GRCm39) Y352C probably damaging Het
Txnl4a T A 18: 80,250,536 (GRCm39) V44D probably benign Het
Vars2 A G 17: 35,972,501 (GRCm39) V39A probably damaging Het
Vmn2r105 A G 17: 20,428,584 (GRCm39) C831R probably damaging Het
Vmn2r26 T A 6: 124,027,667 (GRCm39) I469N probably benign Het
Vmn2r53 T C 7: 12,315,533 (GRCm39) Y762C probably benign Het
Vps13d T A 4: 144,896,918 (GRCm39) Q334L probably benign Het
Zfp277 A T 12: 40,414,164 (GRCm39) I227N probably damaging Het
Other mutations in Klhdc3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCTATACTGAATCACCGCCAGCTTG -3'
(R):5'- AGCCATTCAGCCTGTGAGTGTCTG -3'

Sequencing Primer
(F):5'- ATCTTCTTCCAGGTAAAGGACC -3'
(R):5'- GTTATTTTTTGGTGCCTGCCC -3'
Posted On 2014-01-29