Incidental Mutation 'R6295:Klhdc3'
ID 508732
Institutional Source Beutler Lab
Gene Symbol Klhdc3
Ensembl Gene ENSMUSG00000063576
Gene Name kelch domain containing 3
Synonyms Peas, 1300011D16Rik
MMRRC Submission 044463-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R6295 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46985476-46991840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46988972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 73 (V73I)
Ref Sequence ENSEMBL: ENSMUSP00000128271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002839] [ENSMUST00000002845] [ENSMUST00000024766] [ENSMUST00000071841] [ENSMUST00000165007]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002839
SMART Domains Protein: ENSMUSP00000002839
Gene: ENSMUSG00000059409

DomainStartEndE-ValueType
low complexity region 37 59 N/A INTRINSIC
Pfam:B56 95 505 6.2e-201 PFAM
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: V73I

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000071743
Gene: ENSMUSG00000063576
AA Change: V73I

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: V73I

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128271
Gene: ENSMUSG00000063576
AA Change: V73I

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
Meta Mutation Damage Score 0.0886 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A C 12: 118,838,379 (GRCm39) V1061G probably damaging Het
Acap1 A G 11: 69,781,413 (GRCm39) probably null Het
Apbb1 A G 7: 105,215,902 (GRCm39) F112L probably benign Het
Atg9a A G 1: 75,161,702 (GRCm39) S615P probably benign Het
Atp8a2 G A 14: 60,249,848 (GRCm39) R548* probably null Het
Bbof1 A T 12: 84,457,942 (GRCm39) N69I possibly damaging Het
Bcl2l14 T A 6: 134,404,370 (GRCm39) V186D probably benign Het
Bmp1 T G 14: 70,728,823 (GRCm39) Y583S possibly damaging Het
Boc A C 16: 44,312,711 (GRCm39) S586R probably benign Het
Btbd9 A T 17: 30,518,710 (GRCm39) probably null Het
Cacna1e T C 1: 154,317,919 (GRCm39) M1180V probably damaging Het
Ciao1 T C 2: 127,088,376 (GRCm39) H149R probably damaging Het
Cops5 T C 1: 10,100,920 (GRCm39) probably benign Het
Doc2b C T 11: 75,671,093 (GRCm39) R209Q probably damaging Het
Doc2b T C 11: 75,686,451 (GRCm39) Y90C probably benign Het
Ep400 A G 5: 110,901,675 (GRCm39) F481L probably benign Het
Fat4 T A 3: 39,061,229 (GRCm39) probably null Het
Fbxw16 T A 9: 109,277,837 (GRCm39) probably benign Het
Fbxw27 T C 9: 109,601,154 (GRCm39) E17G possibly damaging Het
Gm29735 G A 7: 141,710,367 (GRCm39) P162S unknown Het
Gypa T G 8: 81,222,969 (GRCm39) S24R unknown Het
Hdhd5 T C 6: 120,495,485 (GRCm39) N153D probably benign Het
Ibsp C A 5: 104,449,987 (GRCm39) probably null Het
Lrrc37a T C 11: 103,388,459 (GRCm39) E2322G unknown Het
Lrrtm3 T C 10: 63,765,913 (GRCm39) H558R probably benign Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mphosph9 A G 5: 124,458,978 (GRCm39) V64A possibly damaging Het
Nthl1 C T 17: 24,857,475 (GRCm39) R251C probably damaging Het
Numa1 G A 7: 101,649,974 (GRCm39) R1235H probably benign Het
Opn1sw T A 6: 29,379,413 (GRCm39) Y197F possibly damaging Het
Or10a3m T C 7: 108,312,845 (GRCm39) V95A probably damaging Het
Pcca A T 14: 122,896,187 (GRCm39) I268F probably benign Het
Per2 A T 1: 91,377,594 (GRCm39) D76E unknown Het
Pfas T C 11: 68,888,825 (GRCm39) N374S probably benign Het
Pomk C A 8: 26,472,955 (GRCm39) V333F probably damaging Het
Ptgfr T C 3: 151,540,926 (GRCm39) E194G probably benign Het
Ptpn14 C T 1: 189,582,997 (GRCm39) P615S probably damaging Het
Pyroxd1 T C 6: 142,300,479 (GRCm39) I203T probably benign Het
Rgs22 T C 15: 36,087,520 (GRCm39) N466S probably benign Het
Rpl3l G A 17: 24,952,966 (GRCm39) V309I probably benign Het
Rtkn2 C T 10: 67,815,529 (GRCm39) probably benign Het
Sec16a C T 2: 26,318,253 (GRCm39) A1613T probably damaging Het
Sis T A 3: 72,874,103 (GRCm39) T33S probably damaging Het
Slc22a4 C A 11: 53,898,634 (GRCm39) V153F possibly damaging Het
Stxbp1 C G 2: 32,684,621 (GRCm39) E603Q probably damaging Het
Tiam2 A G 17: 3,559,831 (GRCm39) S1291G probably damaging Het
Tmem94 T A 11: 115,687,572 (GRCm39) L1144M probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Vmn1r201 T C 13: 22,659,533 (GRCm39) V249A probably benign Het
Wdr7 T A 18: 63,888,182 (GRCm39) C552S 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
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
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'- AGAACGACACAGGTCAGCTG -3'
(R):5'- AATGAAGTGCAGTGGTGGTCTC -3'

Sequencing Primer
(F):5'- ACACCGGCCTCAATTCTGG -3'
(R):5'- TGGTCTCTGCGGCAAGG -3'
Posted On 2018-04-02