Incidental Mutation 'R3155:Klhdc7a'
ID 263455
Institutional Source Beutler Lab
Gene Symbol Klhdc7a
Ensembl Gene ENSMUSG00000078234
Gene Name kelch domain containing 7A
Synonyms B230308G19Rik
MMRRC Submission 040606-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3155 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 139689484-139695337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139694500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 149 (V149A)
Ref Sequence ENSEMBL: ENSMUSP00000100648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105031]
AlphaFold A2APT9
Predicted Effect probably benign
Transcript: ENSMUST00000105031
AA Change: V149A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000100648
Gene: ENSMUSG00000078234
AA Change: V149A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158669
Meta Mutation Damage Score 0.0767 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T C 1: 85,859,104 (GRCm39) probably benign Het
Aco1 T C 4: 40,182,915 (GRCm39) V487A probably damaging Het
Adh1 A G 3: 137,986,250 (GRCm39) E79G probably damaging Het
Aebp1 A G 11: 5,821,425 (GRCm39) N608S probably benign Het
Ahctf1 G A 1: 179,583,148 (GRCm39) R43C probably damaging Het
Ahnak A T 19: 8,987,541 (GRCm39) I2942L possibly damaging Het
Anxa9 A T 3: 95,209,716 (GRCm39) D134E probably benign Het
Ccdc14 A G 16: 34,544,222 (GRCm39) D860G probably damaging Het
Cdhr3 T A 12: 33,099,152 (GRCm39) I480F possibly damaging Het
Cldn34a C T X: 151,346,840 (GRCm39) H171Y probably benign Het
Cyp2d9 T A 15: 82,336,843 (GRCm39) probably null Het
Dmbt1 T A 7: 130,651,887 (GRCm39) Y376* probably null Het
Fancm T C 12: 65,163,195 (GRCm39) I1453T probably benign Het
Fbxw11 A G 11: 32,689,244 (GRCm39) I456V possibly damaging Het
Fut2 A T 7: 45,300,091 (GRCm39) L227Q probably damaging Het
Gbp5 T C 3: 142,208,888 (GRCm39) probably null Het
Glrp1 C A 1: 88,430,976 (GRCm39) Q131H unknown Het
Gm6871 T C 7: 41,223,079 (GRCm39) N3S probably benign Het
H2-Eb1 C A 17: 34,533,348 (GRCm39) T190K probably damaging Het
Kdr T A 5: 76,129,065 (GRCm39) I194F probably benign Het
Lrit3 A G 3: 129,585,044 (GRCm39) F238S probably benign Het
Map10 A T 8: 126,398,313 (GRCm39) I569F possibly damaging Het
Myh6 A G 14: 55,182,125 (GRCm39) I1761T probably damaging Het
Npc1l1 A C 11: 6,171,840 (GRCm39) D874E probably benign Het
Or4k15c T C 14: 50,321,982 (GRCm39) D52G probably benign Het
Or8c17 T A 9: 38,179,836 (GRCm39) M1K probably null Het
Pawr A G 10: 108,245,370 (GRCm39) T193A probably benign Het
Ppp2r3d T C 9: 101,089,559 (GRCm39) K255E possibly damaging Het
Rbp3 A T 14: 33,679,071 (GRCm39) K1006N probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rin2 A G 2: 145,702,771 (GRCm39) K489R probably benign Het
Rlf A G 4: 121,006,529 (GRCm39) V817A probably damaging Het
Rusc1 T C 3: 88,999,038 (GRCm39) D248G probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Stk4 T A 2: 163,993,663 (GRCm39) M98K probably benign Het
Taf15 T A 11: 83,393,599 (GRCm39) H307Q probably benign Het
Urgcp A T 11: 5,666,327 (GRCm39) F670L probably damaging Het
Vmn2r76 T C 7: 85,874,959 (GRCm39) T673A probably damaging Het
Zfp324 G A 7: 12,702,817 (GRCm39) M60I probably damaging 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
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
R8874:Klhdc7a UTSW 4 139,694,896 (GRCm39) missense probably damaging 0.99
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'- TGTAAGATCAGTCCAACCGTTG -3'
(R):5'- ACAACTTGCCTTCCAGGAGG -3'

Sequencing Primer
(F):5'- AACCGTTGGGGGCTTCCAG -3'
(R):5'- TTCCAGGAGGCTCCACC -3'
Posted On 2015-02-05