Incidental Mutation 'R4727:Klhdc7b'
ID 358563
Institutional Source Beutler Lab
Gene Symbol Klhdc7b
Ensembl Gene ENSMUSG00000091680
Gene Name kelch domain containing 7B
Synonyms EG546648
MMRRC Submission 041602-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R4727 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 89269120-89273070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89271785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 889 (L889Q)
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 probably damaging
Transcript: ENSMUST00000166926
AA Change: L231Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: L231Q

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 probably damaging
Transcript: ENSMUST00000225666
AA Change: L889Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,062,489 (GRCm39) N483S probably benign Het
Acoxl T G 2: 127,820,658 (GRCm39) L70R probably damaging Het
Ankrd44 A T 1: 54,706,576 (GRCm39) F627I probably benign Het
Ash2l A T 8: 26,308,623 (GRCm39) I552N probably damaging Het
B4galt1 A G 4: 40,807,812 (GRCm39) S330P probably damaging Het
Bnip3 T C 7: 138,500,435 (GRCm39) S52G probably damaging Het
Btd A G 14: 31,384,278 (GRCm39) Q88R probably benign Het
C4bp A G 1: 130,566,922 (GRCm39) V318A probably benign Het
Cacna1e G A 1: 154,312,214 (GRCm39) Q1530* probably null Het
Calm1 T C 12: 100,166,485 (GRCm39) F23S probably benign Het
Cep290 T G 10: 100,399,132 (GRCm39) I2218R probably benign Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Cyp2d9 T C 15: 82,338,602 (GRCm39) L1P probably null Het
Dgki C A 6: 37,276,748 (GRCm39) probably benign Het
Dhh A G 15: 98,796,023 (GRCm39) L44P probably damaging Het
Dnah12 A G 14: 26,594,274 (GRCm39) I3409V probably damaging Het
Dnah7b G A 1: 46,246,816 (GRCm39) R1664H probably damaging Het
Dnah8 T C 17: 31,070,721 (GRCm39) M4469T probably damaging Het
Ehhadh T C 16: 21,581,181 (GRCm39) I604V probably benign Het
Esr1 A G 10: 4,951,418 (GRCm39) I599V probably benign Het
Faf1 G A 4: 109,697,564 (GRCm39) D297N probably damaging Het
Gfra1 A T 19: 58,252,386 (GRCm39) N380K probably damaging Het
Ghitm A G 14: 36,855,700 (GRCm39) C8R probably damaging Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Itsn2 A G 12: 4,757,660 (GRCm39) Y1424C probably damaging Het
Kcnj10 A G 1: 172,197,266 (GRCm39) D260G probably damaging Het
Klf16 T C 10: 80,405,020 (GRCm39) D164G probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Lrp11 A G 10: 7,466,348 (GRCm39) E153G probably benign Het
Lrrc43 A T 5: 123,632,366 (GRCm39) T170S probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Man1a A T 10: 53,783,668 (GRCm39) probably null Het
Mmp24 C T 2: 155,657,819 (GRCm39) P570S possibly damaging Het
Ms4a3 A G 19: 11,608,742 (GRCm39) M170T probably damaging Het
Naip5 C A 13: 100,358,378 (GRCm39) A953S possibly damaging Het
Nfrkb T C 9: 31,314,919 (GRCm39) S580P probably damaging Het
Or51q1c T G 7: 103,653,097 (GRCm39) V205G probably benign Het
Or8b38 T C 9: 37,973,389 (GRCm39) Y258H probably damaging Het
Padi6 T G 4: 140,458,506 (GRCm39) D462A probably damaging Het
Pde6a A G 18: 61,364,561 (GRCm39) R206G probably benign Het
Plk4 A G 3: 40,759,589 (GRCm39) N162D probably benign Het
Ptpn13 T A 5: 103,717,721 (GRCm39) D1922E probably benign Het
Rangap1 G A 15: 81,613,956 (GRCm39) probably benign Het
Rapgef3 A G 15: 97,658,481 (GRCm39) L175P probably damaging Het
Rps6kb1 G C 11: 86,435,484 (GRCm39) probably null Het
Satb1 T C 17: 52,111,375 (GRCm39) Y161C probably damaging Het
Sel1l3 C A 5: 53,301,525 (GRCm39) probably null Het
Slc17a7 C T 7: 44,822,358 (GRCm39) S398L possibly damaging Het
Slc22a4 T A 11: 53,918,477 (GRCm39) E109V possibly damaging Het
Slc26a7 C T 4: 14,590,477 (GRCm39) A105T probably damaging Het
Slc47a1 T C 11: 61,254,277 (GRCm39) N145S possibly damaging Het
Tank A G 2: 61,483,876 (GRCm39) T441A probably benign Het
Tefm T C 11: 80,031,279 (GRCm39) probably benign Het
Ttbk2 T C 2: 120,575,851 (GRCm39) Y1042C probably benign Het
Wdfy3 T C 5: 102,077,894 (GRCm39) Q892R probably damaging Het
Wdr33 T A 18: 32,021,500 (GRCm39) H683Q unknown Het
Zfp36l2 T A 17: 84,495,089 (GRCm39) I12F probably benign Het
Zfyve26 A T 12: 79,291,170 (GRCm39) M2145K probably benign 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
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
R6810:Klhdc7b UTSW 15 89,272,559 (GRCm39) missense possibly damaging 0.61
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'- TACTGATCCAGGAAGTACCCC -3'
(R):5'- GAGCGGCTCACCTGATAAAG -3'

Sequencing Primer
(F):5'- GATCCAGGAAGTACCCCAGCAG -3'
(R):5'- TGGGTAGCACGAGGACC -3'
Posted On 2015-11-11