Incidental Mutation 'IGL03031:Sphkap'
ID408441
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sphkap
Ensembl Gene ENSMUSG00000026163
Gene NameSPHK1 interactor, AKAP domain containing
Synonyms4930544G21Rik, A930009L15Rik, SKIP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL03031
Quality Score
Status
Chromosome1
Chromosomal Location83254139-83408200 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 83276831 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 779 (S779T)
Ref Sequence ENSEMBL: ENSMUSP00000124384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159078] [ENSMUST00000160953]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000053075
Predicted Effect probably damaging
Transcript: ENSMUST00000159078
AA Change: S779T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: S779T

DomainStartEndE-ValueType
low complexity region 303 314 N/A INTRINSIC
SCOP:d1ash__ 382 462 5e-3 SMART
low complexity region 809 819 N/A INTRINSIC
low complexity region 854 865 N/A INTRINSIC
low complexity region 1202 1221 N/A INTRINSIC
low complexity region 1243 1254 N/A INTRINSIC
Pfam:AKAP_110 1281 1398 7.5e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160953
AA Change: S1066T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: S1066T

DomainStartEndE-ValueType
low complexity region 590 601 N/A INTRINSIC
SCOP:d1ash__ 669 749 6e-3 SMART
low complexity region 1096 1106 N/A INTRINSIC
low complexity region 1141 1152 N/A INTRINSIC
low complexity region 1489 1508 N/A INTRINSIC
Pfam:AKAP_110 1540 1655 6.4e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,314,024 D753G probably benign Het
Adat2 T C 10: 13,556,846 probably benign Het
Ahsa2 A G 11: 23,490,426 L275S probably benign Het
Arhgef38 C T 3: 133,132,067 D118N possibly damaging Het
Bicra A T 7: 15,975,801 H1097Q probably benign Het
C4b T C 17: 34,731,130 T1389A possibly damaging Het
Cd180 A G 13: 102,705,027 S194G probably benign Het
Chgb C A 2: 132,793,514 Q459K probably benign Het
Clvs1 G T 4: 9,449,385 probably benign Het
Cpox G A 16: 58,672,560 G186R probably damaging Het
Cul5 A G 9: 53,642,675 probably benign Het
Epsti1 G A 14: 77,974,581 R249K probably benign Het
Gabrg1 A T 5: 70,794,682 Y90* probably null Het
Gabrp T C 11: 33,554,980 R274G probably damaging Het
Gm597 A G 1: 28,778,583 F123L probably benign Het
Gm6401 C T 14: 41,966,894 E73K possibly damaging Het
Gm9825 T C 6: 7,982,857 noncoding transcript Het
Hectd4 C T 5: 121,348,794 T3284M possibly damaging Het
Hoxc9 T C 15: 102,984,090 M245T probably damaging Het
Lpar6 T C 14: 73,239,442 V281A possibly damaging Het
Med18 G T 4: 132,459,613 Q192K possibly damaging Het
Mis18bp1 A G 12: 65,161,930 V3A probably benign Het
Mpped2 G T 2: 106,783,623 probably benign Het
Ms4a10 A G 19: 10,968,671 V32A probably benign Het
Mthfd1l T A 10: 4,018,601 probably null Het
Myh1 A T 11: 67,206,387 Q422L possibly damaging Het
Myo3b A T 2: 70,255,377 Q819L possibly damaging Het
Ncoa1 G A 12: 4,274,818 T921I possibly damaging Het
Olfr807 A G 10: 129,755,369 L27P possibly damaging Het
Olfr894 A C 9: 38,219,065 T81P probably damaging Het
Olfr960 A G 9: 39,623,398 I92V probably damaging Het
Phf3 A G 1: 30,804,653 S1742P probably benign Het
Plxdc2 G A 2: 16,650,232 probably null Het
Poc5 A G 13: 96,401,615 T263A probably benign Het
Prss41 T A 17: 23,842,422 I132F probably damaging Het
Pxylp1 A G 9: 96,825,142 I329T probably benign Het
Rbm27 T C 18: 42,333,399 probably null Het
Rpgrip1l A T 8: 91,260,783 V882E probably damaging Het
Sec16b T C 1: 157,560,799 S579P probably benign Het
Senp7 A G 16: 56,175,886 E776G probably damaging Het
Smc2 A G 4: 52,449,638 I207V probably benign Het
Spats2 A G 15: 99,180,688 T211A probably benign Het
Syt11 A T 3: 88,748,841 M1K probably null Het
Tacc2 A G 7: 130,623,855 T757A possibly damaging Het
Tecta A C 9: 42,345,493 M1629R probably benign Het
Ufsp2 T A 8: 45,984,100 I101N probably damaging Het
Unc13b T A 4: 43,235,368 C892S probably damaging Het
Ush1c A G 7: 46,224,937 probably benign Het
Vwde A T 6: 13,208,382 V167E probably benign Het
Wdfy4 A G 14: 33,140,651 L588P probably damaging Het
Zfyve1 T C 12: 83,574,821 T267A probably damaging Het
Other mutations in Sphkap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Sphkap APN 1 83280516 missense probably damaging 1.00
IGL00337:Sphkap APN 1 83339608 missense probably damaging 1.00
IGL00470:Sphkap APN 1 83277910 missense possibly damaging 0.87
IGL00577:Sphkap APN 1 83278844 missense probably damaging 1.00
IGL00657:Sphkap APN 1 83276375 missense probably damaging 1.00
IGL01868:Sphkap APN 1 83280399 unclassified probably null
IGL02101:Sphkap APN 1 83290987 missense probably damaging 1.00
IGL02471:Sphkap APN 1 83276176 missense probably damaging 1.00
IGL02943:Sphkap APN 1 83276831 missense probably damaging 1.00
IGL02945:Sphkap APN 1 83276831 missense probably damaging 1.00
IGL03008:Sphkap APN 1 83276831 missense probably damaging 1.00
IGL03059:Sphkap APN 1 83257242 missense probably damaging 0.97
IGL03085:Sphkap APN 1 83280354 missense possibly damaging 0.92
IGL03355:Sphkap APN 1 83280503 missense probably damaging 1.00
IGL03356:Sphkap APN 1 83276831 missense probably damaging 1.00
IGL03368:Sphkap APN 1 83275676 missense probably benign 0.14
R0294:Sphkap UTSW 1 83278245 missense possibly damaging 0.72
R0308:Sphkap UTSW 1 83276969 missense probably damaging 1.00
R0478:Sphkap UTSW 1 83278711 missense probably damaging 1.00
R0606:Sphkap UTSW 1 83280424 missense probably damaging 1.00
R0678:Sphkap UTSW 1 83278628 missense probably benign 0.03
R1216:Sphkap UTSW 1 83290977 missense probably damaging 1.00
R1253:Sphkap UTSW 1 83278898 missense possibly damaging 0.56
R1532:Sphkap UTSW 1 83257203 missense probably damaging 1.00
R1635:Sphkap UTSW 1 83278400 missense probably benign 0.03
R1655:Sphkap UTSW 1 83277515 nonsense probably null
R1657:Sphkap UTSW 1 83277515 nonsense probably null
R1700:Sphkap UTSW 1 83277515 nonsense probably null
R1701:Sphkap UTSW 1 83277515 nonsense probably null
R1734:Sphkap UTSW 1 83277515 nonsense probably null
R1736:Sphkap UTSW 1 83277515 nonsense probably null
R1743:Sphkap UTSW 1 83277515 nonsense probably null
R1744:Sphkap UTSW 1 83277515 nonsense probably null
R1760:Sphkap UTSW 1 83277544 missense probably benign 0.29
R1893:Sphkap UTSW 1 83278966 missense probably benign 0.02
R1937:Sphkap UTSW 1 83267441 nonsense probably null
R1986:Sphkap UTSW 1 83277922 missense probably damaging 1.00
R1993:Sphkap UTSW 1 83277515 nonsense probably null
R1995:Sphkap UTSW 1 83277515 nonsense probably null
R2001:Sphkap UTSW 1 83276662 missense probably damaging 1.00
R2004:Sphkap UTSW 1 83277911 missense probably benign 0.04
R2111:Sphkap UTSW 1 83275881 missense probably benign 0.00
R2112:Sphkap UTSW 1 83275881 missense probably benign 0.00
R2156:Sphkap UTSW 1 83277989 missense probably benign 0.03
R2182:Sphkap UTSW 1 83276684 missense probably damaging 1.00
R2271:Sphkap UTSW 1 83257221 missense probably damaging 1.00
R3712:Sphkap UTSW 1 83277112 missense probably benign 0.27
R3919:Sphkap UTSW 1 83276458 missense probably damaging 1.00
R3980:Sphkap UTSW 1 83267494 splice site probably null
R4130:Sphkap UTSW 1 83277898 missense probably damaging 0.96
R4539:Sphkap UTSW 1 83277793 missense probably benign 0.00
R4602:Sphkap UTSW 1 83279061 nonsense probably null
R4735:Sphkap UTSW 1 83279117 missense probably benign 0.01
R4793:Sphkap UTSW 1 83278084 missense possibly damaging 0.77
R4849:Sphkap UTSW 1 83277384 missense probably benign 0.03
R4880:Sphkap UTSW 1 83288817 missense probably damaging 1.00
R5213:Sphkap UTSW 1 83280503 missense probably damaging 1.00
R5277:Sphkap UTSW 1 83276164 missense probably benign 0.04
R5331:Sphkap UTSW 1 83276782 missense probably benign 0.08
R5632:Sphkap UTSW 1 83278285 missense probably benign 0.01
R5647:Sphkap UTSW 1 83407999 missense probably damaging 0.98
R5751:Sphkap UTSW 1 83275897 missense probably benign 0.27
R5935:Sphkap UTSW 1 83339599 missense probably damaging 1.00
R5999:Sphkap UTSW 1 83267405 missense probably benign 0.02
R6232:Sphkap UTSW 1 83280479 missense probably damaging 1.00
R6318:Sphkap UTSW 1 83278378 missense probably damaging 1.00
R6474:Sphkap UTSW 1 83278823 missense probably damaging 1.00
R6602:Sphkap UTSW 1 83275758 missense possibly damaging 0.75
R6674:Sphkap UTSW 1 83277834 missense probably benign 0.37
R6716:Sphkap UTSW 1 83362228 critical splice donor site probably null
R6803:Sphkap UTSW 1 83280510 missense probably damaging 1.00
R6880:Sphkap UTSW 1 83257257 missense probably damaging 1.00
R6941:Sphkap UTSW 1 83408090 start gained probably benign
R7170:Sphkap UTSW 1 83265985 missense probably damaging 0.99
R7263:Sphkap UTSW 1 83276678 missense probably damaging 1.00
R7422:Sphkap UTSW 1 83263826 missense probably benign 0.02
R7640:Sphkap UTSW 1 83278928 missense possibly damaging 0.94
R7722:Sphkap UTSW 1 83278921 missense probably benign 0.00
R7810:Sphkap UTSW 1 83276300 missense probably damaging 1.00
Z1088:Sphkap UTSW 1 83276608 missense probably damaging 1.00
Z1088:Sphkap UTSW 1 83278604 missense probably damaging 1.00
Posted On2016-08-02