Incidental Mutation 'R1794:Klhdc7b'
ID202077
Institutional Source Beutler Lab
Gene Symbol Klhdc7b
Ensembl Gene ENSMUSG00000091680
Gene Namekelch domain containing 7B
SynonymsEG546648
MMRRC Submission 039824-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #R1794 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location89384917-89388867 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89387020 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 702 (S702P)
Ref Sequence ENSEMBL: ENSMUSP00000153286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109314] [ENSMUST00000166926] [ENSMUST00000167959] [ENSMUST00000225666]
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 benign
Transcript: ENSMUST00000166926
AA Change: S44P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: S44P

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 benign
Transcript: ENSMUST00000225666
AA Change: S702P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.8%
  • 20x: 91.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik T C 13: 59,742,620 E44G probably benign Het
Anxa7 A G 14: 20,471,467 Y54H unknown Het
Arhgef3 A G 14: 27,397,605 T331A probably benign Het
Arhgef40 G T 14: 51,989,930 C477F possibly damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Atp13a5 C A 16: 29,321,709 R343L probably damaging Het
Brdt ACAGCAGCAGCAGCAGC ACAGCAGCAGCAGC 5: 107,359,853 probably benign Het
Btbd2 G T 10: 80,643,913 D426E probably damaging Het
Cabin1 A C 10: 75,725,745 I974R possibly damaging Het
Cacna1i G A 15: 80,389,122 V1670M probably damaging Het
Cc2d2a C A 5: 43,688,252 Q288K probably damaging Het
Ccl20 T A 1: 83,117,829 I37K possibly damaging Het
Cdcp1 A G 9: 123,190,094 V40A probably benign Het
Cdcp1 T C 9: 123,215,831 T27A probably benign Het
Cdh4 C T 2: 179,886,842 T581I probably damaging Het
Cgn A G 3: 94,762,557 probably null Het
Col7a1 G A 9: 108,965,928 G1493D unknown Het
Creb3 A G 4: 43,563,302 E133G probably benign Het
Dchs1 T C 7: 105,771,720 T498A probably benign Het
Dis3l A C 9: 64,317,776 V413G possibly damaging Het
Dnah6 T C 6: 73,024,958 E3865G probably damaging Het
Fam219b A G 9: 57,539,281 Y139C probably damaging Het
Fat3 A T 9: 15,997,136 Y2523* probably null Het
Fat3 A T 9: 15,997,138 Y2523N probably benign Het
Fmnl1 T C 11: 103,197,147 S40P probably benign Het
Gm17727 T A 9: 35,777,122 I56F probably benign Het
Gm4792 T C 10: 94,298,490 D6G unknown Het
Hhat G T 1: 192,693,906 Y306* probably null Het
Hmcn1 A G 1: 150,598,285 I4802T probably benign Het
Hmcn1 G A 1: 150,627,152 T3908I probably damaging Het
Hsph1 A T 5: 149,630,773 N79K probably damaging Het
Ikbke T A 1: 131,259,218 Y579F probably damaging Het
Jak2 A G 19: 29,299,557 D838G probably benign Het
Lingo3 C A 10: 80,835,598 R166L probably benign Het
Lins1 T C 7: 66,711,909 F436S probably damaging Het
Lman1 T C 18: 65,991,684 D328G probably benign Het
Lox A G 18: 52,528,307 C232R probably damaging Het
Lrrc59 T C 11: 94,638,595 V165A probably benign Het
Map9 A G 3: 82,380,221 D50G probably damaging Het
March1 T A 8: 66,386,942 Y126N possibly damaging Het
Mcf2l T C 8: 12,915,982 F3L probably benign Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Nin G A 12: 70,043,795 Q949* probably null Het
Nlgn3 A G X: 101,320,033 H636R probably benign Het
Notch2 A G 3: 98,099,547 D411G possibly damaging Het
Olfr1263 A G 2: 90,015,020 Y30C probably damaging Het
Olfr1449 G C 19: 12,934,968 A77P probably damaging Het
Plekha7 A G 7: 116,140,681 V579A probably damaging Het
Prrc2c T C 1: 162,705,959 probably benign Het
Rab7b T C 1: 131,697,068 probably null Het
Reg3b G T 6: 78,372,214 probably null Het
Rgs20 A G 1: 4,910,572 Y177H probably damaging Het
Ripk3 G T 14: 55,785,329 N379K probably benign Het
Rnf220 G T 4: 117,307,568 Q7K probably benign Het
Ros1 T A 10: 52,124,103 K1109* probably null Het
Slc22a7 T G 17: 46,433,153 R460S probably damaging Het
Slc4a2 A G 5: 24,439,328 M975V probably damaging Het
Slc4a3 A T 1: 75,557,308 I1100F probably damaging Het
Smco1 A G 16: 32,274,132 E207G probably benign Het
Snrnp200 A G 2: 127,216,736 E369G probably benign Het
Tcf4 T A 18: 69,657,853 M178K probably benign Het
Tex2 T C 11: 106,567,902 probably benign Het
Tjp1 A T 7: 65,323,129 I521N probably damaging Het
Tmem203 A G 2: 25,255,994 T109A probably benign Het
Tmem50b T C 16: 91,578,029 I126V probably benign Het
Ugcg C T 4: 59,207,798 P46S probably benign Het
Ush2a T C 1: 188,862,809 F3813L probably benign Het
Vmn1r203 C T 13: 22,524,351 R101W probably damaging Het
Vmn2r79 G A 7: 87,001,413 V136I probably benign Het
Wdr38 A G 2: 39,000,729 Y205C probably damaging Het
Zfp248 A G 6: 118,429,303 F442L probably damaging Het
Znrf4 A G 17: 56,511,599 I236T probably damaging Het
Other mutations in Klhdc7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:Klhdc7b APN 15 89387369 missense probably benign 0.02
IGL02711:Klhdc7b APN 15 89388043 nonsense probably null
R0115:Klhdc7b UTSW 15 89388521 missense probably benign 0.05
R0718:Klhdc7b UTSW 15 89388169 missense possibly damaging 0.91
R0729:Klhdc7b UTSW 15 89387395 nonsense probably null
R0971:Klhdc7b UTSW 15 89387054 missense possibly damaging 0.79
R1815:Klhdc7b UTSW 15 89387597 missense probably damaging 0.99
R1893:Klhdc7b UTSW 15 89387695 unclassified probably null
R3508:Klhdc7b UTSW 15 89386892 start codon destroyed probably null 0.98
R3552:Klhdc7b UTSW 15 89387521 missense probably benign 0.02
R4001:Klhdc7b UTSW 15 89387984 missense probably damaging 1.00
R4618:Klhdc7b UTSW 15 89387269 missense probably benign 0.01
R4727:Klhdc7b UTSW 15 89387582 missense probably damaging 1.00
R5129:Klhdc7b UTSW 15 89388548 missense probably damaging 1.00
R5549:Klhdc7b UTSW 15 89387359 missense probably benign 0.01
R5643:Klhdc7b UTSW 15 89387659 missense possibly damaging 0.85
R5778:Klhdc7b UTSW 15 89387320 missense probably damaging 1.00
R5906:Klhdc7b UTSW 15 89387156 missense probably benign 0.02
R5942:Klhdc7b UTSW 15 89387431 missense probably benign 0.03
R6020:Klhdc7b UTSW 15 89388386 missense probably damaging 1.00
R6653:Klhdc7b UTSW 15 89387089 missense probably benign 0.00
R6810:Klhdc7b UTSW 15 89388356 missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- AGCCAAGGCCTAAGAATACG -3'
(R):5'- GCAGCAAGTCTAGACTCTTCTG -3'

Sequencing Primer
(F):5'- GAATCTAATGTGGGCCTCTCCAAG -3'
(R):5'- GCAAGTCTAGACTCTTCTGCTTGG -3'
Posted On2014-06-23