Incidental Mutation 'R8874:Klhdc7a'
ID 676458
Institutional Source Beutler Lab
Gene Symbol Klhdc7a
Ensembl Gene ENSMUSG00000078234
Gene Name kelch domain containing 7A
Synonyms B230308G19Rik
MMRRC Submission 068744-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8874 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 139689484-139695337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139694896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 17 (M17K)
Ref Sequence ENSEMBL: ENSMUSP00000100648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105031]
AlphaFold A2APT9
Predicted Effect probably damaging
Transcript: ENSMUST00000105031
AA Change: M17K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100648
Gene: ENSMUSG00000078234
AA Change: M17K

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
low complexity region 81 93 N/A INTRINSIC
low complexity region 339 354 N/A INTRINSIC
Kelch 537 585 4.83e-2 SMART
Kelch 586 631 4.98e-4 SMART
low complexity region 756 769 N/A INTRINSIC
Meta Mutation Damage Score 0.2237 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,875,671 (GRCm39) M615V possibly damaging Het
Bud31 T C 5: 145,079,379 (GRCm39) probably null Het
Calhm4 A G 10: 33,920,264 (GRCm39) M1T probably null Het
Ccdc42 A G 11: 68,485,396 (GRCm39) K105E probably damaging Het
Cenpq A G 17: 41,242,551 (GRCm39) S93P probably damaging Het
Cfh A G 1: 140,014,159 (GRCm39) F1222L probably damaging Het
Cpxm2 A T 7: 131,708,010 (GRCm39) probably null Het
Cubn T C 2: 13,365,157 (GRCm39) D1627G possibly damaging Het
Diras2 T C 13: 52,661,737 (GRCm39) E190G possibly damaging Het
Dpyd G C 3: 118,792,981 (GRCm39) A563P probably damaging Het
Efcab8 T A 2: 153,640,569 (GRCm39) N343K Het
Gbp2b A G 3: 142,314,040 (GRCm39) E440G probably benign Het
Ghrhr T C 6: 55,355,891 (GRCm39) F30L probably benign Het
Gm3404 T A 5: 146,464,953 (GRCm39) V231E possibly damaging Het
Gramd4 A G 15: 85,985,093 (GRCm39) H143R probably damaging Het
Greb1l A T 18: 10,544,896 (GRCm39) E1408V probably benign Het
Hdgfl1 T G 13: 26,954,007 (GRCm39) Y22S probably damaging Het
Heatr1 T A 13: 12,445,793 (GRCm39) V1590D probably damaging Het
Hecw2 A T 1: 53,943,608 (GRCm39) probably benign Het
Igkv8-30 C A 6: 70,094,150 (GRCm39) R87L probably damaging Het
Il18rap T A 1: 40,564,506 (GRCm39) C179S probably damaging Het
Itprid2 A G 2: 79,487,684 (GRCm39) K589R probably benign Het
Jph4 T C 14: 55,351,534 (GRCm39) T161A possibly damaging Het
Kpnb1 T C 11: 97,056,209 (GRCm39) N699S probably benign Het
Lama3 T C 18: 12,582,643 (GRCm39) probably null Het
Lca5 A G 9: 83,277,503 (GRCm39) F614L probably damaging Het
Lyst T C 13: 13,812,147 (GRCm39) V853A probably benign Het
Map2 A T 1: 66,455,523 (GRCm39) T1406S probably damaging Het
Med23 A G 10: 24,771,617 (GRCm39) I552V possibly damaging Het
Myo1h A T 5: 114,472,163 (GRCm39) I414L Het
Myom1 A G 17: 71,413,199 (GRCm39) K1271E probably damaging Het
Or14j5 A T 17: 38,161,675 (GRCm39) K64M probably damaging Het
Or2n1b T A 17: 38,459,623 (GRCm39) V48E possibly damaging Het
Or7e177 T C 9: 20,212,069 (GRCm39) F192S possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Prdm2 A T 4: 142,859,785 (GRCm39) D1168E possibly damaging Het
Prr5 T C 15: 84,583,916 (GRCm39) M181T probably damaging Het
Ptpdc1 A G 13: 48,744,168 (GRCm39) I151T probably damaging Het
Ptpn7 T C 1: 135,067,004 (GRCm39) V287A possibly damaging Het
Ptprz1 T C 6: 23,042,747 (GRCm39) V2057A Het
Rad17 G T 13: 100,754,327 (GRCm39) A631E probably benign Het
Sf3a2 ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT 10: 80,640,271 (GRCm39) probably benign Het
Slc22a2 A T 17: 12,828,866 (GRCm39) D324V probably benign Het
Strc C T 2: 121,205,353 (GRCm39) probably null Het
Taf4b T G 18: 14,963,127 (GRCm39) D622E probably benign Het
Tgfbrap1 A C 1: 43,114,973 (GRCm39) N42K probably benign Het
Uvrag A G 7: 98,628,943 (GRCm39) F375L probably benign Het
Vmn2r76 A G 7: 85,877,999 (GRCm39) I466T probably damaging Het
Vmn2r8 T C 5: 108,956,617 (GRCm39) K2E probably damaging Het
Vps13d T C 4: 144,881,772 (GRCm39) T1274A Het
Vwa3b C T 1: 37,074,839 (GRCm39) A2V possibly damaging Het
Ylpm1 T C 12: 85,116,394 (GRCm39) V2092A probably damaging Het
Zfp638 T C 6: 83,946,135 (GRCm39) S1055P probably damaging Het
Zzef1 A G 11: 72,754,815 (GRCm39) T982A probably benign Het
Other mutations in Klhdc7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Klhdc7a APN 4 139,694,236 (GRCm39) missense probably benign 0.00
IGL01588:Klhdc7a APN 4 139,694,257 (GRCm39) missense probably damaging 0.98
IGL01593:Klhdc7a APN 4 139,694,125 (GRCm39) missense probably damaging 1.00
IGL01719:Klhdc7a APN 4 139,693,861 (GRCm39) missense probably damaging 1.00
IGL02333:Klhdc7a APN 4 139,694,467 (GRCm39) missense probably benign 0.07
IGL02481:Klhdc7a APN 4 139,693,121 (GRCm39) missense probably benign 0.25
R0153:Klhdc7a UTSW 4 139,694,582 (GRCm39) missense possibly damaging 0.83
R0385:Klhdc7a UTSW 4 139,694,016 (GRCm39) missense probably benign
R1280:Klhdc7a UTSW 4 139,692,764 (GRCm39) missense probably benign 0.01
R1456:Klhdc7a UTSW 4 139,692,835 (GRCm39) missense possibly damaging 0.46
R1837:Klhdc7a UTSW 4 139,694,381 (GRCm39) missense probably benign 0.31
R1838:Klhdc7a UTSW 4 139,694,381 (GRCm39) missense probably benign 0.31
R1987:Klhdc7a UTSW 4 139,693,335 (GRCm39) nonsense probably null
R2172:Klhdc7a UTSW 4 139,693,121 (GRCm39) missense probably benign 0.25
R2220:Klhdc7a UTSW 4 139,692,764 (GRCm39) missense probably benign 0.01
R3154:Klhdc7a UTSW 4 139,693,024 (GRCm39) missense probably benign 0.20
R3155:Klhdc7a UTSW 4 139,694,500 (GRCm39) missense probably benign 0.01
R4242:Klhdc7a UTSW 4 139,694,032 (GRCm39) missense probably benign 0.01
R4349:Klhdc7a UTSW 4 139,693,588 (GRCm39) missense possibly damaging 0.67
R5859:Klhdc7a UTSW 4 139,694,885 (GRCm39) missense probably damaging 0.96
R6316:Klhdc7a UTSW 4 139,694,113 (GRCm39) missense probably benign 0.00
R6342:Klhdc7a UTSW 4 139,694,370 (GRCm39) missense probably benign 0.09
R6755:Klhdc7a UTSW 4 139,693,786 (GRCm39) missense possibly damaging 0.80
R7528:Klhdc7a UTSW 4 139,694,828 (GRCm39) missense probably damaging 1.00
R7648:Klhdc7a UTSW 4 139,693,250 (GRCm39) missense possibly damaging 0.66
R7842:Klhdc7a UTSW 4 139,694,549 (GRCm39) missense probably damaging 0.97
R7843:Klhdc7a UTSW 4 139,694,155 (GRCm39) missense possibly damaging 0.87
R7992:Klhdc7a UTSW 4 139,693,045 (GRCm39) missense probably damaging 1.00
R8476:Klhdc7a UTSW 4 139,693,051 (GRCm39) missense probably damaging 1.00
R9334:Klhdc7a UTSW 4 139,693,493 (GRCm39) missense probably benign 0.14
X0002:Klhdc7a UTSW 4 139,693,675 (GRCm39) small deletion probably benign
Z1176:Klhdc7a UTSW 4 139,695,108 (GRCm39) start gained probably benign
Z1177:Klhdc7a UTSW 4 139,694,311 (GRCm39) missense probably benign 0.00
Z1177:Klhdc7a UTSW 4 139,692,973 (GRCm39) missense probably benign 0.14
Z1187:Klhdc7a UTSW 4 139,693,852 (GRCm39) missense probably damaging 1.00
Z1190:Klhdc7a UTSW 4 139,693,852 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCTGGAAGGCAAGTTGTC -3'
(R):5'- AGCTGCAACCTTAGCCATC -3'

Sequencing Primer
(F):5'- AAGTTGTCCCAAGGCCTCTG -3'
(R):5'- TTGCCGACTCAGTGGACTCAAAG -3'
Posted On 2021-07-15