Incidental Mutation 'R5366:Klhdc1'
ID 429361
Institutional Source Beutler Lab
Gene Symbol Klhdc1
Ensembl Gene ENSMUSG00000051890
Gene Name kelch domain containing 1
Synonyms
MMRRC Submission 042944-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5366 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 69287950-69331406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69329924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 351 (I351N)
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: I351N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068046
Gene: ENSMUSG00000051890
AA Change: I351N

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 benign
Transcript: ENSMUST00000173419
SMART Domains Protein: ENSMUSP00000134180
Gene: ENSMUSG00000051890

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 0.3059 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 100% (77/77)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,831,665 (GRCm39) N1229S possibly damaging Het
Adgre1 G A 17: 57,709,817 (GRCm39) C158Y probably benign Het
Ahnak T A 19: 8,994,099 (GRCm39) S5128T possibly damaging Het
Ankrd36 T A 11: 5,542,841 (GRCm39) C322* probably null Het
Ano1 T A 7: 144,207,946 (GRCm39) T113S possibly damaging Het
Apeh A T 9: 107,969,005 (GRCm39) S321T probably benign Het
Atg4d T A 9: 21,179,948 (GRCm39) V273D probably damaging Het
Cacna2d4 A G 6: 119,251,279 (GRCm39) D489G probably damaging Het
Cd47 T C 16: 49,716,736 (GRCm39) F256L probably damaging Het
Cd84 A T 1: 171,700,872 (GRCm39) D211V probably damaging Het
Cfap46 A G 7: 139,230,802 (GRCm39) L942P probably damaging Het
Cfh A C 1: 140,063,973 (GRCm39) C434W probably damaging Het
Chst2 T C 9: 95,287,518 (GRCm39) D276G probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Degs1 C A 1: 182,106,927 (GRCm39) D111Y probably benign Het
Dhps T A 8: 85,801,413 (GRCm39) D313E probably damaging Het
Dipk1c T A 18: 84,748,720 (GRCm39) L106Q probably damaging Het
Dock9 A G 14: 121,815,615 (GRCm39) C1645R probably damaging Het
Efcab7 A C 4: 99,761,931 (GRCm39) D407A possibly damaging Het
Eif3a G T 19: 60,767,971 (GRCm39) T189N probably benign Het
Ep300 T A 15: 81,500,301 (GRCm39) L57M probably benign Het
Exoc6b T A 6: 84,867,513 (GRCm39) I300L probably benign Het
Fzd8 T C 18: 9,213,880 (GRCm39) S321P probably damaging Het
Garre1 A T 7: 33,941,713 (GRCm39) M657K possibly damaging Het
Gm9920 T A 15: 54,975,705 (GRCm39) probably benign Het
Gucy2c A G 6: 136,697,739 (GRCm39) I668T probably damaging Het
Irgc C T 7: 24,132,851 (GRCm39) probably benign Het
Jsrp1 G T 10: 80,646,030 (GRCm39) S143* probably null Het
Kctd4 T C 14: 76,200,259 (GRCm39) Y77H probably damaging Het
Klra17 C T 6: 129,851,858 (GRCm39) E5K possibly damaging Het
Mapk8 A T 14: 33,112,686 (GRCm39) V211E probably damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mrc1 T C 2: 14,326,725 (GRCm39) Y1208H probably benign Het
Mrps16 A T 14: 20,441,523 (GRCm39) S94T probably benign Het
Muc5ac A G 7: 141,361,287 (GRCm39) T1533A probably benign Het
Myh10 A T 11: 68,651,518 (GRCm39) D287V probably damaging Het
Obscn T C 11: 58,971,086 (GRCm39) T2476A probably damaging Het
Olfm2 T A 9: 20,579,708 (GRCm39) T356S probably benign Het
Or4f60 T C 2: 111,902,823 (GRCm39) Y35C possibly damaging Het
P2rx2 T A 5: 110,489,694 (GRCm39) N108I probably damaging Het
Pbx4 A T 8: 70,322,820 (GRCm39) T309S probably benign Het
Phyhip C A 14: 70,704,295 (GRCm39) H171Q probably benign Het
Pou4f3 A G 18: 42,528,819 (GRCm39) E254G probably damaging Het
Pxdn C A 12: 30,052,899 (GRCm39) H845Q probably damaging Het
Rgcc T C 14: 79,529,123 (GRCm39) T111A probably benign Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sgsm1 C A 5: 113,398,905 (GRCm39) E722D possibly damaging Het
Soat1 A T 1: 156,272,181 (GRCm39) D101E probably benign Het
Spag5 T A 11: 78,211,152 (GRCm39) probably null Het
Spata31 A T 13: 65,068,273 (GRCm39) E140D probably damaging Het
Srrm2 T A 17: 24,037,678 (GRCm39) S1537T probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tbc1d4 G T 14: 101,845,412 (GRCm39) T162K possibly damaging Het
Tmem163 A C 1: 127,428,042 (GRCm39) probably benign Het
Tmem43 T C 6: 91,455,240 (GRCm39) V72A probably benign Het
Tmprss11c G A 5: 86,429,993 (GRCm39) T24I possibly damaging Het
Trerf1 A T 17: 47,626,116 (GRCm39) noncoding transcript Het
Trim44 A G 2: 102,230,476 (GRCm39) L185P probably damaging Het
Tspyl1 A G 10: 34,158,341 (GRCm39) D22G possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tyro3 G A 2: 119,635,312 (GRCm39) R201Q probably damaging Het
Ubxn2a T A 12: 4,930,741 (GRCm39) K206N probably benign Het
Usp17lb G T 7: 104,489,615 (GRCm39) H436Q possibly damaging Het
Vps9d1 A G 8: 123,971,853 (GRCm39) I584T possibly damaging Het
Vrk1 T A 12: 106,022,078 (GRCm39) M131K possibly damaging Het
Wdr87-ps A C 7: 29,232,964 (GRCm39) noncoding transcript Het
Zfp827 A T 8: 79,912,333 (GRCm39) K986N possibly damaging Het
Zswim4 A G 8: 84,939,419 (GRCm39) M821T probably benign 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
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
R7224:Klhdc1 UTSW 12 69,309,923 (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'- ACCTGCTTAACTTCGGTGC -3'
(R):5'- AAATCCAGCCTTCACTGCAG -3'

Sequencing Primer
(F):5'- CTGCTTAACTTCGGTGCTCTGAG -3'
(R):5'- TCTGATGCAAGCACGCAG -3'
Posted On 2016-09-06