Incidental Mutation 'R5958:Klhdc3'
ID 471315
Institutional Source Beutler Lab
Gene Symbol Klhdc3
Ensembl Gene ENSMUSG00000063576
Gene Name kelch domain containing 3
Synonyms Peas, 1300011D16Rik
MMRRC Submission 044145-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R5958 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46985476-46991840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46986028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 378 (V378D)
Ref Sequence ENSEMBL: ENSMUSP00000128271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024766] [ENSMUST00000071841] [ENSMUST00000165007]
AlphaFold no structure available at present
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: V378D

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000071743
Gene: ENSMUSG00000063576
AA Change: V378D

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: V378D

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128271
Gene: ENSMUSG00000063576
AA Change: V378D

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 0.0884 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.0%
Validation Efficiency 95% (75/79)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,030,367 (GRCm39) D616G probably damaging Het
Adam30 A G 3: 98,069,280 (GRCm39) N243S probably damaging Het
Adck1 A G 12: 88,425,822 (GRCm39) I417V probably benign Het
Adcy4 T C 14: 56,016,556 (GRCm39) probably null Het
Ahctf1 A G 1: 179,574,107 (GRCm39) probably benign Het
Ap1s3 G T 1: 79,591,960 (GRCm39) T130K probably benign Het
Apold1 C T 6: 134,960,686 (GRCm39) R47C probably damaging Het
Atp13a5 T C 16: 29,157,860 (GRCm39) K197E probably damaging Het
Camk2d T G 3: 126,573,514 (GRCm39) probably benign Het
Ccin A G 4: 43,983,854 (GRCm39) D87G probably damaging Het
Cdan1 T C 2: 120,554,383 (GRCm39) T889A possibly damaging Het
Cel T A 2: 28,450,957 (GRCm39) Y102F probably damaging Het
Cma1 A C 14: 56,179,113 (GRCm39) *248E probably null Het
Cnbd1 T C 4: 18,862,056 (GRCm39) N378S probably benign Het
Col18a1 T A 10: 76,932,231 (GRCm39) Y533F probably benign Het
Cpb2 T C 14: 75,520,827 (GRCm39) I414T probably damaging Het
Dagla T C 19: 10,225,788 (GRCm39) Y792C probably damaging Het
Dlgap5 T A 14: 47,651,211 (GRCm39) E107D probably damaging Het
Dmtf1 T A 5: 9,172,415 (GRCm39) probably benign Het
Dst A G 1: 34,225,131 (GRCm39) K1682R probably damaging Het
Epyc A T 10: 97,485,704 (GRCm39) H48L probably benign Het
Fam135b A G 15: 71,334,744 (GRCm39) S817P Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Foxk1 T C 5: 142,442,429 (GRCm39) V693A probably benign Het
Fuom A T 7: 139,679,811 (GRCm39) F122I probably damaging Het
Glg1 G T 8: 111,985,736 (GRCm39) H31Q probably benign Het
Gm13199 C T 2: 5,867,065 (GRCm39) probably benign Het
Hdac9 G T 12: 34,423,882 (GRCm39) Q595K probably damaging Het
Homez C T 14: 55,094,298 (GRCm39) R119Q probably benign Het
Ifit3b A G 19: 34,589,142 (GRCm39) H106R probably benign Het
Ift57 C T 16: 49,531,471 (GRCm39) probably benign Het
Itk A T 11: 46,235,682 (GRCm39) probably benign Het
Katnip A G 7: 125,412,807 (GRCm39) K358E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Klhl14 A G 18: 21,698,592 (GRCm39) I407T probably damaging Het
Meioc A T 11: 102,565,979 (GRCm39) T476S probably benign Het
Olfm3 G A 3: 114,915,955 (GRCm39) V276I probably damaging Het
Or5b24 T C 19: 12,912,411 (GRCm39) F103S probably damaging Het
Pcm1 T C 8: 41,782,016 (GRCm39) L1972P probably damaging Het
Pcsk6 A G 7: 65,693,359 (GRCm39) E3G probably damaging Het
Pctp A G 11: 89,876,945 (GRCm39) S185P probably benign Het
Pik3c2a A G 7: 115,961,799 (GRCm39) L1010S probably damaging Het
Pitpnm3 G T 11: 72,003,193 (GRCm39) probably null Het
Prrc2b A G 2: 32,102,092 (GRCm39) M722V possibly damaging Het
Rad18 T C 6: 112,673,603 (GRCm39) probably benign Het
Senp6 T C 9: 80,049,576 (GRCm39) S1036P probably damaging Het
Slc22a22 C T 15: 57,126,932 (GRCm39) A46T possibly damaging Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Spag6l C A 16: 16,580,885 (GRCm39) probably null Het
Strc T C 2: 121,207,403 (GRCm39) H656R possibly damaging Het
Tanc2 A G 11: 105,731,451 (GRCm39) D409G probably benign Het
Thap11 A G 8: 106,582,696 (GRCm39) H235R probably damaging Het
Thsd7a T A 6: 12,337,261 (GRCm39) Y1252F probably benign Het
Tlr11 T G 14: 50,598,234 (GRCm39) N73K probably damaging Het
Ttll10 T C 4: 156,120,523 (GRCm39) probably null Het
Ubr4 A T 4: 139,182,949 (GRCm39) N445I probably damaging Het
Ugt1a6a C T 1: 88,143,510 (GRCm39) probably benign Het
Urb2 T C 8: 124,756,398 (GRCm39) F702L probably benign Het
Utp14b A T 1: 78,642,659 (GRCm39) K186* probably null Het
Utp14b A T 1: 78,642,660 (GRCm39) K186M probably damaging Het
Vmn2r16 T A 5: 109,510,153 (GRCm39) M512K possibly damaging Het
Vmn2r27 T A 6: 124,208,686 (GRCm39) M20L probably benign 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
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'- GTTTCATGCCAACAGCCGAG -3'
(R):5'- AATGGGTACACCTGAGCCAG -3'

Sequencing Primer
(F):5'- TGAGGCTCCAACACTGCTG -3'
(R):5'- CCAGATGCTTAGGCTCAGAAGTCTG -3'
Posted On 2017-03-31