Incidental Mutation 'R1199:Klhdc10'
ID 101198
Institutional Source Beutler Lab
Gene Symbol Klhdc10
Ensembl Gene ENSMUSG00000029775
Gene Name kelch domain containing 10
Synonyms 2410127E18Rik
MMRRC Submission 039269-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R1199 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 30401867-30455178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30449493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 185 (V185D)
Ref Sequence ENSEMBL: ENSMUSP00000145063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068240] [ENSMUST00000068259] [ENSMUST00000123494] [ENSMUST00000132581] [ENSMUST00000144272]
AlphaFold Q6PAR0
Predicted Effect probably damaging
Transcript: ENSMUST00000068240
AA Change: V296D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064594
Gene: ENSMUSG00000029775
AA Change: V296D

DomainStartEndE-ValueType
low complexity region 11 35 N/A INTRINSIC
Pfam:Kelch_5 56 107 3.6e-7 PFAM
Pfam:Kelch_1 59 114 5.6e-8 PFAM
Pfam:Kelch_4 59 120 1.8e-7 PFAM
Pfam:Kelch_6 59 120 2.1e-8 PFAM
Pfam:Kelch_4 173 222 9.8e-9 PFAM
Pfam:Kelch_6 173 225 3.9e-9 PFAM
Pfam:Kelch_2 174 218 1.2e-7 PFAM
Pfam:Kelch_1 174 219 9.4e-8 PFAM
Kelch 239 294 4.93e0 SMART
Kelch 295 342 9.96e-4 SMART
low complexity region 373 384 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000068259
AA Change: V325D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069669
Gene: ENSMUSG00000029775
AA Change: V325D

DomainStartEndE-ValueType
low complexity region 11 35 N/A INTRINSIC
Pfam:Kelch_5 85 135 1.2e-7 PFAM
Pfam:Kelch_1 88 143 2.6e-8 PFAM
Pfam:Kelch_4 88 149 1.5e-6 PFAM
Pfam:Kelch_6 88 150 3.1e-8 PFAM
Pfam:Kelch_6 202 255 4.6e-9 PFAM
Pfam:Kelch_2 203 247 1.4e-7 PFAM
Pfam:Kelch_1 203 248 2.6e-6 PFAM
Kelch 268 323 4.93e0 SMART
Kelch 324 371 9.96e-4 SMART
low complexity region 402 413 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123494
SMART Domains Protein: ENSMUSP00000145442
Gene: ENSMUSG00000029775

DomainStartEndE-ValueType
Pfam:Kelch_4 62 110 1.2e-4 PFAM
Pfam:Kelch_6 62 115 5.2e-8 PFAM
Pfam:Kelch_2 63 107 1.6e-6 PFAM
Pfam:Kelch_1 63 108 3.1e-5 PFAM
Pfam:Kelch_1 116 157 2.1e-6 PFAM
Pfam:Kelch_6 116 157 8.8e-6 PFAM
Pfam:Kelch_4 122 157 3.7e-4 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132581
AA Change: V243D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143839
Gene: ENSMUSG00000029775
AA Change: V243D

DomainStartEndE-ValueType
low complexity region 3 35 N/A INTRINSIC
Pfam:Kelch_2 121 165 1.1e-6 PFAM
Pfam:Kelch_6 121 173 2.4e-8 PFAM
Pfam:Kelch_1 123 166 2.1e-5 PFAM
Pfam:Kelch_4 123 168 9.8e-5 PFAM
Kelch 186 241 1.7e-2 SMART
Kelch 242 289 3.3e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000144272
AA Change: V185D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145063
Gene: ENSMUSG00000029775
AA Change: V185D

DomainStartEndE-ValueType
Pfam:Kelch_4 62 110 3.5e-4 PFAM
Pfam:Kelch_6 62 115 1.6e-7 PFAM
Pfam:Kelch_2 63 107 4.8e-6 PFAM
Pfam:Kelch_1 63 108 9.1e-5 PFAM
Kelch 128 183 1.7e-2 SMART
Kelch 184 231 3.3e-6 SMART
low complexity region 262 273 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150854
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,270,676 (GRCm39) H80L possibly damaging Het
A1bg A T 15: 60,791,484 (GRCm39) probably null Het
Aco2 C T 15: 81,779,394 (GRCm39) S33L probably damaging Het
Agrn T A 4: 156,256,756 (GRCm39) Y1283F probably benign Het
Akap6 T C 12: 52,842,973 (GRCm39) V107A probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Btnl9 A T 11: 49,071,574 (GRCm39) V83E probably damaging Het
Camk2a T A 18: 61,085,396 (GRCm39) C131* probably null Het
Ccdc14 C T 16: 34,544,198 (GRCm39) T852M probably damaging Het
Cntn4 T C 6: 106,330,558 (GRCm39) probably benign Het
Cp T G 3: 20,031,316 (GRCm39) S585R probably damaging Het
Cpt1b G A 15: 89,303,213 (GRCm39) A614V probably benign Het
Crygn T C 5: 24,956,146 (GRCm39) Y153C probably damaging Het
Dennd1a A T 2: 37,851,728 (GRCm39) D53E probably damaging Het
Deptor T C 15: 55,115,406 (GRCm39) C357R probably benign Het
Dnajc28 C A 16: 91,415,530 (GRCm39) probably benign Het
Eml6 G A 11: 29,705,044 (GRCm39) A1500V possibly damaging Het
Fgd5 T A 6: 91,963,959 (GRCm39) L64Q possibly damaging Het
Fgfbp1 A G 5: 44,136,939 (GRCm39) Y118H probably damaging Het
Ftcd G A 10: 76,415,653 (GRCm39) R135H probably damaging Het
Gm5174 A T 10: 86,493,189 (GRCm39) noncoding transcript Het
Gpr37l1 A T 1: 135,094,710 (GRCm39) L178Q probably damaging Het
Gtf2ird1 A G 5: 134,439,918 (GRCm39) V104A possibly damaging Het
Irs1 T A 1: 82,267,347 (GRCm39) S290C probably damaging Het
Kel C T 6: 41,665,525 (GRCm39) V532I possibly damaging Het
Kif1c A G 11: 70,599,427 (GRCm39) E442G possibly damaging Het
Lpp C T 16: 24,500,610 (GRCm39) R141C probably damaging Het
Or52a5 A T 7: 103,427,192 (GRCm39) M120K probably damaging Het
Or5m13 A G 2: 85,748,379 (GRCm39) I37V probably benign Het
Pcnx2 G T 8: 126,614,053 (GRCm39) P466H possibly damaging Het
Pcsk1 A T 13: 75,244,532 (GRCm39) probably benign Het
Pkd2l2 T C 18: 34,571,269 (GRCm39) probably null Het
Pomt1 A G 2: 32,140,504 (GRCm39) N454S probably benign Het
Samhd1 A T 2: 156,951,381 (GRCm39) I452N probably damaging Het
Sez6 A G 11: 77,844,711 (GRCm39) Q178R probably benign Het
Slc25a44 A G 3: 88,328,293 (GRCm39) V66A probably damaging Het
Slc46a2 T C 4: 59,914,189 (GRCm39) T245A probably benign Het
Slc4a4 G A 5: 89,363,653 (GRCm39) probably null Het
Spata6 T A 4: 111,656,342 (GRCm39) C329S possibly damaging Het
Srrm2 A T 17: 24,036,725 (GRCm39) probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Svil T A 18: 5,059,217 (GRCm39) probably benign Het
Tenm3 G T 8: 48,688,617 (GRCm39) S2323R probably damaging Het
Tsc1 G A 2: 28,555,638 (GRCm39) R245Q probably damaging Het
Ttn A G 2: 76,739,100 (GRCm39) V3813A probably benign Het
Ttn G A 2: 76,780,388 (GRCm39) T1121M possibly damaging Het
Ush2a G A 1: 188,491,992 (GRCm39) V3094I probably benign Het
Vcan A G 13: 89,827,913 (GRCm39) probably null Het
Vmn1r189 A T 13: 22,286,828 (GRCm39) L3Q probably damaging Het
Vmn1r60 A C 7: 5,547,971 (GRCm39) V43G probably damaging Het
Vmn2r110 A G 17: 20,803,525 (GRCm39) I350T probably benign Het
Vmn2r86 T A 10: 130,284,443 (GRCm39) probably benign Het
Xrn1 A G 9: 95,863,814 (GRCm39) probably benign Het
Zfp251 C T 15: 76,738,436 (GRCm39) R219Q possibly damaging Het
Other mutations in Klhdc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Klhdc10 APN 6 30,441,933 (GRCm39) splice site probably null
IGL02313:Klhdc10 APN 6 30,439,865 (GRCm39) critical splice donor site probably null
IGL03353:Klhdc10 APN 6 30,447,991 (GRCm39) splice site probably benign
PIT4378001:Klhdc10 UTSW 6 30,447,411 (GRCm39) missense probably damaging 0.98
R0379:Klhdc10 UTSW 6 30,450,669 (GRCm39) missense possibly damaging 0.89
R0390:Klhdc10 UTSW 6 30,447,411 (GRCm39) missense probably damaging 0.98
R1628:Klhdc10 UTSW 6 30,444,461 (GRCm39) missense probably damaging 0.98
R2243:Klhdc10 UTSW 6 30,449,558 (GRCm39) missense probably damaging 1.00
R2861:Klhdc10 UTSW 6 30,402,139 (GRCm39) missense unknown
R5007:Klhdc10 UTSW 6 30,450,640 (GRCm39) missense probably benign 0.05
R5574:Klhdc10 UTSW 6 30,439,864 (GRCm39) missense possibly damaging 0.92
R6428:Klhdc10 UTSW 6 30,439,855 (GRCm39) missense probably damaging 1.00
R6724:Klhdc10 UTSW 6 30,446,640 (GRCm39) missense probably damaging 0.99
R6842:Klhdc10 UTSW 6 30,439,781 (GRCm39) missense probably damaging 1.00
R6879:Klhdc10 UTSW 6 30,449,589 (GRCm39) missense probably damaging 1.00
R7014:Klhdc10 UTSW 6 30,450,502 (GRCm39) missense probably damaging 1.00
R7124:Klhdc10 UTSW 6 30,441,826 (GRCm39) missense probably damaging 1.00
R7453:Klhdc10 UTSW 6 30,447,989 (GRCm39) critical splice donor site probably null
R7988:Klhdc10 UTSW 6 30,446,690 (GRCm39) missense probably benign
R9192:Klhdc10 UTSW 6 30,449,499 (GRCm39) missense probably damaging 0.99
R9747:Klhdc10 UTSW 6 30,439,859 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- ATTGGAGAGCCTTGCCATGAAGCC -3'
(R):5'- AAACTTGGATGTGACTGTGTTTCCCTC -3'

Sequencing Primer
(F):5'- ATGAAGCCTCCTTGGGCTG -3'
(R):5'- GCTATAAGCAACTCTTCCCTGAC -3'
Posted On 2014-01-15