Incidental Mutation 'IGL01120:Kash5'
ID 51593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kash5
Ensembl Gene ENSMUSG00000038292
Gene Name KASH domain containing 5
Synonyms Ccdc155, LOC384619
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01120
Quality Score
Status
Chromosome 7
Chromosomal Location 44833048-44854316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44833622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 560 (S560Y)
Ref Sequence ENSEMBL: ENSMUSP00000113616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042754] [ENSMUST00000121017] [ENSMUST00000179443] [ENSMUST00000210086] [ENSMUST00000211004]
AlphaFold Q80VJ8
Predicted Effect probably benign
Transcript: ENSMUST00000042754
SMART Domains Protein: ENSMUSP00000041047
Gene: ENSMUSG00000038300

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:TIP39 49 99 5e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121017
AA Change: S560Y

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292
AA Change: S560Y

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:EF-hand_9 108 175 8e-31 PFAM
Pfam:KASH_CCD 227 419 2.4e-90 PFAM
low complexity region 472 498 N/A INTRINSIC
low complexity region 607 633 N/A INTRINSIC
low complexity region 638 647 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179443
SMART Domains Protein: ENSMUSP00000135927
Gene: ENSMUSG00000095276

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 58 77 N/A INTRINSIC
low complexity region 142 161 N/A INTRINSIC
SCOP:d1fftc1 399 431 5e-4 SMART
low complexity region 470 488 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210086
Predicted Effect probably benign
Transcript: ENSMUST00000211004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211277
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 T A 5: 135,040,329 (GRCm39) probably null Het
Armcx5 T C X: 134,647,112 (GRCm39) I396T probably damaging Het
Atm T C 9: 53,372,422 (GRCm39) probably null Het
Atp6v1c2 C T 12: 17,358,294 (GRCm39) E88K probably damaging Het
Caskin1 A G 17: 24,724,343 (GRCm39) T1044A possibly damaging Het
Cyp3a59 T A 5: 146,039,671 (GRCm39) S315T probably damaging Het
Dnaja1 T A 4: 40,730,248 (GRCm39) I240N probably damaging Het
Dnttip2 C T 3: 122,072,386 (GRCm39) probably benign Het
Elavl2 A T 4: 91,152,309 (GRCm39) M136K probably damaging Het
Eml5 C T 12: 98,810,278 (GRCm39) V893I probably benign Het
Fbxw4 G T 19: 45,628,955 (GRCm39) A2E probably benign Het
Flg2 T G 3: 93,108,475 (GRCm39) S168A probably damaging Het
Fndc3a G A 14: 72,794,102 (GRCm39) T857I probably benign Het
Gria1 A G 11: 57,208,495 (GRCm39) K797E probably damaging Het
Herc1 T C 9: 66,336,162 (GRCm39) F1569S probably benign Het
Lrrc45 T C 11: 120,610,836 (GRCm39) V524A probably benign Het
Myo19 T C 11: 84,798,104 (GRCm39) L708P probably damaging Het
Nup107 A G 10: 117,606,146 (GRCm39) probably benign Het
Or10ab4 T G 7: 107,654,774 (GRCm39) M195R probably damaging Het
Or52h9 T C 7: 104,202,552 (GRCm39) V142A probably benign Het
Palm A G 10: 79,652,621 (GRCm39) probably benign Het
Phf14 T C 6: 11,962,739 (GRCm39) V462A probably damaging Het
Pkhd1l1 G A 15: 44,368,708 (GRCm39) probably null Het
Pkp3 T A 7: 140,664,095 (GRCm39) L424* probably null Het
Prss29 A G 17: 25,541,107 (GRCm39) K184E probably benign Het
Prss3b A T 6: 41,008,607 (GRCm39) Y236N probably damaging Het
Ptcd1 C T 5: 145,089,053 (GRCm39) probably benign Het
Pth1r T C 9: 110,556,198 (GRCm39) H225R probably damaging Het
Rffl C T 11: 82,696,848 (GRCm39) V332I probably damaging Het
Rsl1 T C 13: 67,325,230 (GRCm39) probably benign Het
Scart2 T C 7: 139,876,472 (GRCm39) L648P probably benign Het
Scn9a T C 2: 66,357,316 (GRCm39) K986R probably benign Het
Slc22a15 A G 3: 101,804,482 (GRCm39) L181P probably damaging Het
Slc34a1 T A 13: 55,556,884 (GRCm39) L241H probably damaging Het
Slc4a4 C A 5: 89,280,238 (GRCm39) H354Q probably damaging Het
Sorcs2 T C 5: 36,178,596 (GRCm39) E1131G probably damaging Het
Ssc4d C A 5: 135,996,817 (GRCm39) D95Y probably damaging Het
Tcte1 A T 17: 45,850,594 (GRCm39) D290V probably damaging Het
Thyn1 T A 9: 26,915,070 (GRCm39) M74K probably benign Het
Tlr4 C T 4: 66,758,662 (GRCm39) T485I probably benign Het
Trem1 A G 17: 48,544,277 (GRCm39) T101A probably benign Het
Ttc17 T C 2: 94,202,141 (GRCm39) E387G probably damaging Het
Vmn2r103 A T 17: 20,013,259 (GRCm39) T127S probably benign Het
Other mutations in Kash5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Kash5 APN 7 44,834,730 (GRCm39) missense possibly damaging 0.72
IGL01620:Kash5 APN 7 44,839,384 (GRCm39) missense probably damaging 0.98
IGL01643:Kash5 APN 7 44,849,710 (GRCm39) missense probably damaging 0.99
IGL02528:Kash5 APN 7 44,833,170 (GRCm39) unclassified probably benign
big_ole UTSW 7 44,843,501 (GRCm39) missense probably damaging 1.00
PIT4585001:Kash5 UTSW 7 44,849,695 (GRCm39) missense probably benign 0.02
R0240:Kash5 UTSW 7 44,849,675 (GRCm39) missense probably benign 0.43
R1219:Kash5 UTSW 7 44,838,832 (GRCm39) splice site probably benign
R1768:Kash5 UTSW 7 44,838,227 (GRCm39) splice site probably null
R5155:Kash5 UTSW 7 44,839,078 (GRCm39) nonsense probably null
R5818:Kash5 UTSW 7 44,843,383 (GRCm39) critical splice donor site probably null
R6746:Kash5 UTSW 7 44,849,735 (GRCm39) missense probably benign 0.06
R7574:Kash5 UTSW 7 44,854,035 (GRCm39) missense possibly damaging 0.53
R8030:Kash5 UTSW 7 44,837,608 (GRCm39) small insertion probably benign
R8032:Kash5 UTSW 7 44,837,630 (GRCm39) small insertion probably benign
R8032:Kash5 UTSW 7 44,837,608 (GRCm39) small insertion probably benign
R8418:Kash5 UTSW 7 44,843,501 (GRCm39) missense probably damaging 1.00
R8762:Kash5 UTSW 7 44,845,481 (GRCm39) missense probably damaging 1.00
R9083:Kash5 UTSW 7 44,854,058 (GRCm39) missense unknown
R9241:Kash5 UTSW 7 44,833,313 (GRCm39) missense probably benign 0.15
Z1176:Kash5 UTSW 7 44,833,678 (GRCm39) critical splice acceptor site probably null
Posted On 2013-06-21