Incidental Mutation 'R7224:Klhdc1'
ID 562052
Institutional Source Beutler Lab
Gene Symbol Klhdc1
Ensembl Gene ENSMUSG00000051890
Gene Name kelch domain containing 1
Synonyms
MMRRC Submission 045296-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7224 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 69287950-69331406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69309923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 275 (S275N)
Ref Sequence ENSEMBL: ENSMUSP00000068046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063445] [ENSMUST00000173419]
AlphaFold Q80YG3
Predicted Effect probably damaging
Transcript: ENSMUST00000063445
AA Change: S275N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068046
Gene: ENSMUSG00000051890
AA Change: S275N

DomainStartEndE-ValueType
Pfam:Kelch_5 11 54 4.4e-11 PFAM
Pfam:Kelch_4 67 122 4.4e-7 PFAM
Pfam:Kelch_6 67 124 1.7e-7 PFAM
Pfam:Kelch_3 79 125 1.8e-8 PFAM
Pfam:Kelch_3 170 205 2.5e-7 PFAM
Pfam:Kelch_2 196 235 2.8e-8 PFAM
Pfam:Kelch_1 196 236 1.4e-6 PFAM
Pfam:Kelch_4 196 245 5.5e-7 PFAM
Pfam:Kelch_3 206 256 3.9e-8 PFAM
Pfam:Kelch_4 247 295 5.3e-10 PFAM
Pfam:Kelch_3 258 307 1.7e-7 PFAM
low complexity region 364 376 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173419
AA Change: S275N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134180
Gene: ENSMUSG00000051890
AA Change: S275N

DomainStartEndE-ValueType
Pfam:Kelch_5 11 54 4.7e-11 PFAM
Pfam:Kelch_4 67 123 1.7e-8 PFAM
Pfam:Kelch_6 67 124 5.6e-8 PFAM
Pfam:Kelch_1 68 116 3.2e-6 PFAM
Pfam:Kelch_3 78 126 3.1e-9 PFAM
Pfam:Kelch_3 165 205 2.8e-8 PFAM
Pfam:Kelch_5 193 237 2.7e-6 PFAM
Pfam:Kelch_2 196 235 1.8e-8 PFAM
Pfam:Kelch_6 196 237 2.6e-8 PFAM
Pfam:Kelch_4 196 245 2e-7 PFAM
Pfam:Kelch_3 206 256 2.1e-7 PFAM
Pfam:Kelch_5 245 285 2.4e-6 PFAM
Pfam:Kelch_4 247 299 3.5e-11 PFAM
Pfam:Kelch_6 247 299 3.2e-8 PFAM
Pfam:Kelch_3 258 301 1.2e-7 PFAM
Meta Mutation Damage Score 0.0855 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C T 3: 59,943,275 (GRCm39) T60M probably benign Het
Actn4 C T 7: 28,661,509 (GRCm39) A34T probably benign Het
Acvrl1 A G 15: 101,041,245 (GRCm39) M466V probably benign Het
Adamts7 T C 9: 90,067,868 (GRCm39) Y453H probably damaging Het
Amfr G A 8: 94,711,484 (GRCm39) P351S probably damaging Het
Ankrd26 G A 6: 118,516,688 (GRCm39) T492M probably benign Het
Anxa6 A G 11: 54,876,993 (GRCm39) F547L probably damaging Het
Ap5m1 T G 14: 49,318,384 (GRCm39) Y394D unknown Het
Atic G A 1: 71,610,014 (GRCm39) V342I probably benign Het
Atl1 C A 12: 70,002,127 (GRCm39) T362N probably benign Het
Atp10a A T 7: 58,447,219 (GRCm39) M654L probably benign Het
B3gnt5 A T 16: 19,588,503 (GRCm39) M241L probably benign Het
Bbs7 A G 3: 36,659,877 (GRCm39) V186A possibly damaging Het
Brme1 A G 8: 84,898,842 (GRCm39) T577A probably benign Het
C8b T C 4: 104,637,795 (GRCm39) L89P probably damaging Het
Capn7 G T 14: 31,092,678 (GRCm39) E742* probably null Het
Ccdc162 G A 10: 41,437,187 (GRCm39) R1741C probably damaging Het
Cdhr17 T C 5: 17,041,592 (GRCm39) V615A possibly damaging Het
Chsy3 T A 18: 59,542,047 (GRCm39) L395H probably damaging Het
Cnot9 A G 1: 74,556,388 (GRCm39) T62A probably benign Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Cyp2d12 T A 15: 82,441,849 (GRCm39) probably null Het
Dnah7a A G 1: 53,436,420 (GRCm39) V3974A probably benign Het
Dync1h1 G A 12: 110,584,196 (GRCm39) G533D possibly damaging Het
Eddm13 T G 7: 6,271,801 (GRCm39) M77R probably benign Het
Elfn1 A G 5: 139,958,228 (GRCm39) S411G probably benign Het
Enpp3 T C 10: 24,652,782 (GRCm39) D725G possibly damaging Het
Fmnl1 T C 11: 103,073,595 (GRCm39) probably null Het
Fndc8 T C 11: 82,783,151 (GRCm39) M44T probably benign Het
Gcgr A T 11: 120,425,538 (GRCm39) probably benign Het
Ggt1 T A 10: 75,410,110 (GRCm39) V14D possibly damaging Het
Gigyf2 A G 1: 87,331,447 (GRCm39) I198M unknown Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm6034 T A 17: 36,367,331 (GRCm39) S59T unknown Het
Gm6408 G A 5: 146,421,180 (GRCm39) V270I probably benign Het
Gpr20 A T 15: 73,567,981 (GRCm39) I136N probably damaging Het
Ide T C 19: 37,268,160 (GRCm39) E565G Het
Igsf9 T C 1: 172,322,349 (GRCm39) S515P probably damaging Het
Kbtbd12 G A 6: 88,590,965 (GRCm39) R416* probably null Het
Kcnd3 A T 3: 105,576,400 (GRCm39) I615F probably damaging Het
Kcnk7 A T 19: 5,756,805 (GRCm39) M265L probably benign Het
Ldc1 C G 4: 130,112,992 (GRCm39) A135P probably damaging Het
Lrba A C 3: 86,302,553 (GRCm39) N1871T probably damaging Het
Lrrk1 A G 7: 65,982,134 (GRCm39) V169A probably damaging Het
Magi1 A G 6: 93,660,070 (GRCm39) I1175T probably benign Het
Man1a2 T C 3: 100,489,369 (GRCm39) T537A possibly damaging Het
Mrpl17 T C 7: 105,459,209 (GRCm39) N129S probably damaging Het
Mup5 G A 4: 61,750,622 (GRCm39) R174C probably damaging Het
Ndufaf1 G A 2: 119,488,877 (GRCm39) R216C probably damaging Het
Neb T C 2: 52,224,671 (GRCm39) probably null Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or52m2 A T 7: 102,263,974 (GRCm39) M74K probably damaging Het
Or5a1 T C 19: 12,097,912 (GRCm39) T55A probably benign Het
Or8b12b G A 9: 37,684,711 (GRCm39) G252D possibly damaging Het
Osbpl8 C T 10: 111,110,872 (GRCm39) P458L possibly damaging Het
Pcdh20 T C 14: 88,706,511 (GRCm39) E263G possibly damaging Het
Pkd1l1 A G 11: 8,895,241 (GRCm39) L623P Het
Plxdc1 T C 11: 97,823,153 (GRCm39) T363A possibly damaging Het
Pole3 T C 4: 62,442,287 (GRCm39) D111G unknown Het
R3hdm2 T A 10: 127,294,022 (GRCm39) L172Q probably damaging Het
Rbm33 T C 5: 28,599,322 (GRCm39) V90A Het
Rcbtb1 C G 14: 59,465,828 (GRCm39) I390M probably damaging Het
Romo1 G A 2: 155,986,295 (GRCm39) probably benign Het
Sars1 A G 3: 108,335,519 (GRCm39) Y410H probably damaging Het
Sesn2 T C 4: 132,224,724 (GRCm39) T327A probably benign Het
Slc30a5 A G 13: 100,945,762 (GRCm39) V530A probably damaging Het
Slc30a9 G A 5: 67,473,044 (GRCm39) E43K probably benign Het
Slc38a2 A C 15: 96,589,240 (GRCm39) L418W probably damaging Het
Snx14 T C 9: 88,276,614 (GRCm39) E557G possibly damaging Het
Spata33 T A 8: 123,948,737 (GRCm39) I123K probably damaging Het
Tdrd3 A T 14: 87,714,839 (GRCm39) H170L probably damaging Het
Trpm1 A G 7: 63,868,854 (GRCm39) probably null Het
Tsr3 A T 17: 25,461,569 (GRCm39) E302D probably benign Het
Ttll11 A G 2: 35,792,685 (GRCm39) I386T probably damaging Het
Usp2 C T 9: 43,987,266 (GRCm39) T188M possibly damaging Het
Usp44 A G 10: 93,681,855 (GRCm39) I102V probably benign Het
Wasf1 A G 10: 40,802,546 (GRCm39) N67S probably benign Het
Zfp445 T C 9: 122,681,208 (GRCm39) N911S probably benign Het
Zfp467 A G 6: 48,421,903 (GRCm39) probably null Het
Other mutations in Klhdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Klhdc1 APN 12 69,288,782 (GRCm39) missense possibly damaging 0.92
IGL01432:Klhdc1 APN 12 69,298,751 (GRCm39) missense probably damaging 0.97
IGL02086:Klhdc1 APN 12 69,329,958 (GRCm39) missense probably benign 0.18
IGL02212:Klhdc1 APN 12 69,297,540 (GRCm39) missense probably damaging 1.00
IGL02548:Klhdc1 APN 12 69,300,492 (GRCm39) missense probably benign 0.00
IGL02861:Klhdc1 APN 12 69,298,225 (GRCm39) missense possibly damaging 0.85
R0446:Klhdc1 UTSW 12 69,330,082 (GRCm39) missense probably benign
R0656:Klhdc1 UTSW 12 69,304,804 (GRCm39) missense probably benign
R1528:Klhdc1 UTSW 12 69,309,972 (GRCm39) missense probably benign 0.02
R3001:Klhdc1 UTSW 12 69,302,983 (GRCm39) missense possibly damaging 0.91
R3002:Klhdc1 UTSW 12 69,302,983 (GRCm39) missense possibly damaging 0.91
R4428:Klhdc1 UTSW 12 69,315,000 (GRCm39) intron probably benign
R4738:Klhdc1 UTSW 12 69,329,907 (GRCm39) missense probably benign 0.07
R5009:Klhdc1 UTSW 12 69,298,712 (GRCm39) missense possibly damaging 0.89
R5366:Klhdc1 UTSW 12 69,329,924 (GRCm39) missense probably damaging 0.99
R5619:Klhdc1 UTSW 12 69,304,919 (GRCm39) splice site probably null
R5662:Klhdc1 UTSW 12 69,329,939 (GRCm39) missense probably benign 0.07
R5911:Klhdc1 UTSW 12 69,303,025 (GRCm39) missense possibly damaging 0.80
R5995:Klhdc1 UTSW 12 69,297,548 (GRCm39) missense probably damaging 1.00
R6708:Klhdc1 UTSW 12 69,306,304 (GRCm39) missense possibly damaging 0.75
R6992:Klhdc1 UTSW 12 69,300,531 (GRCm39) missense probably damaging 1.00
R7597:Klhdc1 UTSW 12 69,316,642 (GRCm39) missense probably damaging 1.00
R7833:Klhdc1 UTSW 12 69,329,942 (GRCm39) missense probably benign 0.12
R8826:Klhdc1 UTSW 12 69,305,392 (GRCm39) missense probably damaging 1.00
R8828:Klhdc1 UTSW 12 69,298,808 (GRCm39) missense probably damaging 1.00
R8880:Klhdc1 UTSW 12 69,298,817 (GRCm39) missense possibly damaging 0.94
R8939:Klhdc1 UTSW 12 69,300,537 (GRCm39) missense probably damaging 1.00
R9091:Klhdc1 UTSW 12 69,309,968 (GRCm39) missense probably damaging 1.00
R9114:Klhdc1 UTSW 12 69,288,783 (GRCm39) missense probably damaging 0.99
R9270:Klhdc1 UTSW 12 69,309,968 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACAAATCTTGATAGCTGTTGTTC -3'
(R):5'- CGTTGAAAGCTGATCTCATAACAG -3'

Sequencing Primer
(F):5'- TCTAGGATGTGGGATACTCATATTG -3'
(R):5'- TGAGGCTAATTTGAGAAGTAACTTTC -3'
Posted On 2019-06-26