Incidental Mutation 'R6810:Klhdc7b'
ID 533778
Institutional Source Beutler Lab
Gene Symbol Klhdc7b
Ensembl Gene ENSMUSG00000091680
Gene Name kelch domain containing 7B
Synonyms EG546648
MMRRC Submission 044923-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.250) question?
Stock # R6810 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 89269120-89273070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89272559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1147 (Y1147C)
Ref Sequence ENSEMBL: ENSMUSP00000153286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109314] [ENSMUST00000166926] [ENSMUST00000167959] [ENSMUST00000225666]
AlphaFold A0A286YD60
Predicted Effect probably benign
Transcript: ENSMUST00000109314
SMART Domains Protein: ENSMUSP00000104937
Gene: ENSMUSG00000078938

DomainStartEndE-ValueType
Pfam:Synaptonemal_3 1 86 4e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166926
AA Change: Y489C

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: Y489C

DomainStartEndE-ValueType
low complexity region 130 146 N/A INTRINSIC
Kelch 366 416 1.04e-6 SMART
Kelch 417 461 4.9e-3 SMART
Kelch 462 504 4.18e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167959
SMART Domains Protein: ENSMUSP00000131766
Gene: ENSMUSG00000078938

DomainStartEndE-ValueType
Pfam:Synaptonemal_3 1 85 6.6e-44 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000225666
AA Change: Y1147C

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.0745 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 96% (53/55)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A T 8: 95,660,570 (GRCm39) T70S probably damaging Het
Adora1 T C 1: 134,161,777 (GRCm39) Y106C probably damaging Het
Aox3 T A 1: 58,180,590 (GRCm39) N250K probably benign Het
Ap2b1 A T 11: 83,226,317 (GRCm39) Y238F possibly damaging Het
Birc6 G A 17: 74,919,215 (GRCm39) S2015N possibly damaging Het
C7 A G 15: 5,037,136 (GRCm39) F581L probably damaging Het
Cd27 A T 6: 125,210,627 (GRCm39) H203Q probably damaging Het
Cdk2 A G 10: 128,535,456 (GRCm39) V274A probably benign Het
Cenpe A G 3: 134,949,583 (GRCm39) T1351A probably benign Het
Chd7 T C 4: 8,839,523 (GRCm39) L1353P probably damaging Het
Dcc C T 18: 71,503,764 (GRCm39) V945M probably damaging Het
Dio1 A G 4: 107,154,922 (GRCm39) V118A probably damaging Het
Dst C T 1: 34,251,379 (GRCm39) T1818M probably damaging Het
Dthd1 T A 5: 62,971,672 (GRCm39) M165K probably benign Het
Eif5b A G 1: 38,085,741 (GRCm39) I929V probably benign Het
F5 T A 1: 164,014,471 (GRCm39) S581T probably damaging Het
Fanca A C 8: 124,013,216 (GRCm39) I761S probably damaging Het
Fat2 T C 11: 55,173,067 (GRCm39) T2549A possibly damaging Het
Fut2 A G 7: 45,299,929 (GRCm39) L281P probably damaging Het
Gm19410 C A 8: 36,239,733 (GRCm39) A143E probably damaging Het
Gm5431 T C 11: 48,779,803 (GRCm39) D651G probably damaging Het
Hook3 A C 8: 26,522,450 (GRCm39) probably null Het
Ivd G T 2: 118,700,242 (GRCm39) V90L probably benign Het
Mlh1 G A 9: 111,070,626 (GRCm39) T363M possibly damaging Het
Ndufa3 A T 7: 3,622,476 (GRCm39) I45F probably damaging Het
Nell2 T C 15: 95,139,468 (GRCm39) D588G probably damaging Het
Nhlrc3 T C 3: 53,360,996 (GRCm39) N253S probably benign Het
Nlrp4c T A 7: 6,069,754 (GRCm39) F552I probably damaging Het
Or51g1 A C 7: 102,634,042 (GRCm39) S110A probably damaging Het
Or5j3 G A 2: 86,128,267 (GRCm39) A36T probably benign Het
Pcdhga12 T C 18: 37,900,232 (GRCm39) S355P probably benign Het
Pcdhga7 A T 18: 37,848,926 (GRCm39) Y311F probably benign Het
Phldb2 A G 16: 45,569,088 (GRCm39) probably null Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Plxna4 A G 6: 32,287,457 (GRCm39) V480A probably benign Het
Psrc1 A T 3: 108,292,664 (GRCm39) K152N possibly damaging Het
Ptcd3 A C 6: 71,862,516 (GRCm39) V473G probably damaging Het
Rab11fip1 ACTCT ACT 8: 27,642,760 (GRCm39) probably null Het
Semp2l2b C T 10: 21,942,616 (GRCm39) G455R probably damaging Het
Skint6 T C 4: 112,805,577 (GRCm39) probably null Het
Slc24a1 A G 9: 64,855,605 (GRCm39) V434A probably benign Het
Snd1 T A 6: 28,668,609 (GRCm39) V432E probably benign Het
Syne2 C T 12: 75,989,659 (GRCm39) T1847M probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tes C A 6: 17,104,651 (GRCm39) N377K probably benign Het
Tfip11 T A 5: 112,481,463 (GRCm39) I452N probably benign Het
Tgfbi T C 13: 56,785,016 (GRCm39) S658P probably benign Het
Tmx4 A C 2: 134,462,594 (GRCm39) D112E probably damaging Het
Tnn G T 1: 159,932,412 (GRCm39) D1367E probably damaging Het
Triobp A G 15: 78,850,815 (GRCm39) N323S possibly damaging Het
Usp40 T C 1: 87,908,755 (GRCm39) D582G probably benign Het
Vmn2r99 A G 17: 19,600,296 (GRCm39) K440R probably benign Het
Zfp707 T A 15: 75,846,748 (GRCm39) L193Q probably damaging Het
Zfp748 T C 13: 67,689,844 (GRCm39) Y472C probably damaging Het
Other mutations in Klhdc7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:Klhdc7b APN 15 89,271,572 (GRCm39) missense probably benign 0.02
IGL02711:Klhdc7b APN 15 89,272,246 (GRCm39) nonsense probably null
R0115:Klhdc7b UTSW 15 89,272,724 (GRCm39) missense probably benign 0.05
R0718:Klhdc7b UTSW 15 89,272,372 (GRCm39) missense possibly damaging 0.91
R0729:Klhdc7b UTSW 15 89,271,598 (GRCm39) nonsense probably null
R0971:Klhdc7b UTSW 15 89,271,257 (GRCm39) missense possibly damaging 0.79
R1794:Klhdc7b UTSW 15 89,271,223 (GRCm39) missense probably benign 0.00
R1815:Klhdc7b UTSW 15 89,271,800 (GRCm39) missense probably damaging 0.99
R1893:Klhdc7b UTSW 15 89,271,898 (GRCm39) splice site probably null
R3508:Klhdc7b UTSW 15 89,271,095 (GRCm39) start codon destroyed probably null 0.98
R3552:Klhdc7b UTSW 15 89,271,724 (GRCm39) missense probably benign 0.02
R4001:Klhdc7b UTSW 15 89,272,187 (GRCm39) missense probably damaging 1.00
R4618:Klhdc7b UTSW 15 89,271,472 (GRCm39) missense probably benign 0.01
R4727:Klhdc7b UTSW 15 89,271,785 (GRCm39) missense probably damaging 1.00
R5129:Klhdc7b UTSW 15 89,272,751 (GRCm39) missense probably damaging 1.00
R5549:Klhdc7b UTSW 15 89,271,562 (GRCm39) missense probably benign 0.01
R5643:Klhdc7b UTSW 15 89,271,862 (GRCm39) missense possibly damaging 0.85
R5778:Klhdc7b UTSW 15 89,271,523 (GRCm39) missense probably damaging 1.00
R5906:Klhdc7b UTSW 15 89,271,359 (GRCm39) missense probably benign 0.02
R5942:Klhdc7b UTSW 15 89,271,634 (GRCm39) missense probably benign 0.03
R6020:Klhdc7b UTSW 15 89,272,589 (GRCm39) missense probably damaging 1.00
R6653:Klhdc7b UTSW 15 89,271,292 (GRCm39) missense probably benign 0.00
R7399:Klhdc7b UTSW 15 89,272,847 (GRCm39) missense possibly damaging 0.78
R7548:Klhdc7b UTSW 15 89,272,907 (GRCm39) missense probably damaging 0.96
R7640:Klhdc7b UTSW 15 89,271,463 (GRCm39) missense possibly damaging 0.61
R8461:Klhdc7b UTSW 15 89,271,824 (GRCm39) missense probably damaging 0.97
R8712:Klhdc7b UTSW 15 89,271,025 (GRCm39) missense probably benign 0.07
R8890:Klhdc7b UTSW 15 89,272,888 (GRCm39) missense probably benign 0.03
R9497:Klhdc7b UTSW 15 89,272,463 (GRCm39) missense possibly damaging 0.56
R9785:Klhdc7b UTSW 15 89,272,621 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGAGTGCCTATACAGCATGG -3'
(R):5'- GTTGAGACAGTAAATGGTGTTGCC -3'

Sequencing Primer
(F):5'- ATGGAGCGCTATGACCCAC -3'
(R):5'- TGTTGCCCAATACCGTGCAG -3'
Posted On 2018-09-12