Incidental Mutation 'R4428:Klhdc1'
ID 328287
Institutional Source Beutler Lab
Gene Symbol Klhdc1
Ensembl Gene ENSMUSG00000051890
Gene Name kelch domain containing 1
Synonyms
MMRRC Submission 041698-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4428 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 69287950-69331406 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 69315000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063445] [ENSMUST00000173419]
AlphaFold Q80YG3
Predicted Effect probably benign
Transcript: ENSMUST00000063445
SMART Domains Protein: ENSMUSP00000068046
Gene: ENSMUSG00000051890

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 noncoding transcript
Transcript: ENSMUST00000124326
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cmpk1 T C 4: 114,820,559 (GRCm39) E180G probably benign Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fgf3 T C 7: 144,394,444 (GRCm39) V86A probably damaging Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Gsk3b T A 16: 38,014,298 (GRCm39) L252Q probably damaging Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Psg17 G T 7: 18,550,717 (GRCm39) N379K probably benign Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Shq1 T C 6: 100,647,889 (GRCm39) Y45C probably damaging Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sp8 T A 12: 118,812,938 (GRCm39) S264R possibly damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A T 4: 3,569,534 (GRCm39) I52K probably benign Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E probably damaging 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
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
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'- TGTATCAGATAAAGGGCTGACC -3'
(R):5'- TCCAGACAACACTTCTGGTCC -3'

Sequencing Primer
(F):5'- CCAAGGCTGGGTTCTGAG -3'
(R):5'- GTGCTCTGCAGTTACCATAGCAAC -3'
Posted On 2015-07-07