Incidental Mutation 'R7810:Sphkap'
ID 601052
Institutional Source Beutler Lab
Gene Symbol Sphkap
Ensembl Gene ENSMUSG00000026163
Gene Name SPHK1 interactor, AKAP domain containing
Synonyms SKIP, A930009L15Rik, 4930544G21Rik
MMRRC Submission 045865-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7810 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 83233163-83385853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83254021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 1243 (N1243Y)
Ref Sequence ENSEMBL: ENSMUSP00000124872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159078] [ENSMUST00000160953]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000159078
AA Change: N956Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: N956Y

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: N1243Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: N1243Y

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (91/92)
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,105,045 (GRCm39) E200G probably benign Het
Ankfy1 C T 11: 72,645,281 (GRCm39) Q787* probably null Het
Birc6 T A 17: 74,855,815 (GRCm39) H208Q probably damaging Het
Brsk2 T A 7: 141,539,157 (GRCm39) probably null Het
Cabp5 T A 7: 13,132,263 (GRCm39) F11I possibly damaging Het
Ccdc88a T C 11: 29,435,964 (GRCm39) Y1296H probably damaging Het
Ccdc88b A G 19: 6,826,454 (GRCm39) V1087A probably benign Het
Cct3 C T 3: 88,228,442 (GRCm39) T508I probably damaging Het
Ceacam9 T A 7: 16,457,658 (GRCm39) M57K possibly damaging Het
Ces1f T C 8: 93,983,546 (GRCm39) E487G probably damaging Het
Chd5 A G 4: 152,443,032 (GRCm39) K278E probably damaging Het
Cntnap3 T A 13: 64,941,122 (GRCm39) H286L possibly damaging Het
Dnai7 T G 6: 145,140,312 (GRCm39) D163A probably benign Het
Efr3a G T 15: 65,659,022 (GRCm39) probably benign Het
Fastkd2 T A 1: 63,770,851 (GRCm39) I69N possibly damaging Het
Flg2 T C 3: 93,107,548 (GRCm39) I11T possibly damaging Het
Folr2 T C 7: 101,490,102 (GRCm39) M84V possibly damaging Het
Galnt12 T C 4: 47,113,786 (GRCm39) F360S probably damaging Het
Galr2 T C 11: 116,173,946 (GRCm39) V192A probably benign Het
Gas6 A T 8: 13,516,809 (GRCm39) I563N probably damaging Het
Gbe1 T C 16: 70,324,085 (GRCm39) F567L possibly damaging Het
Gm12695 G A 4: 96,619,608 (GRCm39) H423Y probably damaging Het
Gm6902 T C 7: 22,973,243 (GRCm39) T95A probably benign Het
Gpr155 G T 2: 73,212,296 (GRCm39) A109D probably damaging Het
Hsdl1 T C 8: 120,294,711 (GRCm39) D5G probably damaging Het
Hyal1 C T 9: 107,455,628 (GRCm39) P313S probably damaging Het
Igfn1 G A 1: 135,902,527 (GRCm39) T390M probably damaging Het
Irx1 C A 13: 72,107,917 (GRCm39) R255L probably benign Het
Itga2 T A 13: 115,002,715 (GRCm39) T592S probably benign Het
Kit C A 5: 75,769,982 (GRCm39) S131R probably benign Het
Map1b T C 13: 99,568,390 (GRCm39) T1444A unknown Het
Mapk8ip1 C T 2: 92,219,496 (GRCm39) E112K probably benign Het
Marveld3 T C 8: 110,681,266 (GRCm39) I210V probably damaging Het
Masp1 T A 16: 23,295,068 (GRCm39) I398L probably benign Het
Mmrn1 T C 6: 60,953,309 (GRCm39) I530T probably benign Het
Mtss2 A G 8: 111,452,833 (GRCm39) Y26C probably damaging Het
Myo5a T A 9: 75,067,747 (GRCm39) S600R probably benign Het
Myo5a A G 9: 75,076,292 (GRCm39) I836V probably benign Het
Naaladl1 A G 19: 6,159,694 (GRCm39) D375G probably damaging Het
Napepld T A 5: 21,888,263 (GRCm39) D62V possibly damaging Het
Nedd9 A C 13: 41,465,483 (GRCm39) I719S possibly damaging Het
Nes T A 3: 87,882,923 (GRCm39) M394K probably benign Het
Nlrc5 A T 8: 95,231,772 (GRCm39) Y1288F possibly damaging Het
Nlrp14 T A 7: 106,791,782 (GRCm39) C822* probably null Het
Noa1 A C 5: 77,457,071 (GRCm39) L278R probably damaging Het
Nop16 A G 13: 54,737,889 (GRCm39) probably benign Het
Odr4 T C 1: 150,268,659 (GRCm39) probably benign Het
Or11h7 A T 14: 50,891,450 (GRCm39) Y252F probably benign Het
Or5b12 A G 19: 12,897,229 (GRCm39) V148A probably benign Het
Osbpl10 C T 9: 114,890,962 (GRCm39) H117Y probably benign Het
Oxct1 A T 15: 4,077,058 (GRCm39) E130D probably benign Het
Padi2 A G 4: 140,676,575 (GRCm39) E571G possibly damaging Het
Pcdhac2 G A 18: 37,278,717 (GRCm39) V566M probably benign Het
Pdcd11 G A 19: 47,086,659 (GRCm39) E222K possibly damaging Het
Pira12 C A 7: 3,897,204 (GRCm39) C544F probably damaging Het
Plekha2 A G 8: 25,578,356 (GRCm39) probably null Het
Pogz T C 3: 94,777,418 (GRCm39) L366P probably benign Het
Ppp4r3b A G 11: 29,138,086 (GRCm39) I145V probably benign Het
Prkcd A G 14: 30,320,407 (GRCm39) probably null Het
Ptprk T A 10: 28,468,853 (GRCm39) H1438Q probably damaging Het
Rbm4 A T 19: 4,842,650 (GRCm39) V63E possibly damaging Het
Sbk2 T A 7: 4,961,938 (GRCm39) H116L probably damaging Het
Sdk1 A G 5: 141,923,434 (GRCm39) T352A probably benign Het
Septin9 T A 11: 117,250,264 (GRCm39) C529* probably null Het
Setx T A 2: 29,038,663 (GRCm39) V1716D probably benign Het
Slc19a3 C T 1: 82,997,162 (GRCm39) V349I probably benign Het
Slc27a4 C A 2: 29,695,722 (GRCm39) R86S probably benign Het
Slc4a8 A G 15: 100,696,059 (GRCm39) H613R possibly damaging Het
Smoc2 A G 17: 14,545,884 (GRCm39) R58G probably damaging Het
Srsf5 T C 12: 80,996,720 (GRCm39) S261P unknown Het
Tab1 A T 15: 80,042,999 (GRCm39) T398S possibly damaging Het
Tas2r131 T A 6: 132,934,705 (GRCm39) T35S probably benign Het
Tasor2 T C 13: 3,625,714 (GRCm39) K1412R possibly damaging Het
Tigd4 T A 3: 84,502,310 (GRCm39) V409E possibly damaging Het
Tlr12 T C 4: 128,510,501 (GRCm39) Q583R probably benign Het
Tmprss9 T A 10: 80,733,145 (GRCm39) C894S unknown Het
Topaz1 T A 9: 122,578,250 (GRCm39) S387T probably benign Het
Tsfm T C 10: 126,847,558 (GRCm39) R178G probably benign Het
Ttll13 T C 7: 79,902,875 (GRCm39) I181T probably damaging Het
Ttyh3 T A 5: 140,610,896 (GRCm39) K97N Het
Ubr4 A G 4: 139,142,394 (GRCm39) E38G Het
Ugt2b37 T C 5: 87,402,118 (GRCm39) Y171C probably damaging Het
Unc5b C A 10: 60,601,020 (GRCm39) M935I probably benign Het
Usp34 T C 11: 23,362,314 (GRCm39) S1606P Het
Vmn1r195 T C 13: 22,463,244 (GRCm39) L238P probably damaging Het
Vmn2r85 T A 10: 130,261,081 (GRCm39) M419L probably benign Het
Washc2 G T 6: 116,236,020 (GRCm39) A1164S probably benign Het
Wdfy3 A T 5: 102,042,940 (GRCm39) M1937K probably benign Het
Wdfy3 A T 5: 102,099,265 (GRCm39) L261* probably null Het
Wdr64 A T 1: 175,559,092 (GRCm39) Y285F probably benign Het
Wtap A G 17: 13,199,797 (GRCm39) L62P probably damaging Het
Zfp1007 A C 5: 109,825,170 (GRCm39) Y93* probably null Het
Zfp94 C A 7: 24,002,498 (GRCm39) V315F probably benign Het
Zhx1 A T 15: 57,911,798 (GRCm39) probably null Het
Other mutations in Sphkap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Sphkap APN 1 83,258,237 (GRCm39) missense probably damaging 1.00
IGL00337:Sphkap APN 1 83,317,329 (GRCm39) missense probably damaging 1.00
IGL00470:Sphkap APN 1 83,255,631 (GRCm39) missense possibly damaging 0.87
IGL00577:Sphkap APN 1 83,256,565 (GRCm39) missense probably damaging 1.00
IGL00657:Sphkap APN 1 83,254,096 (GRCm39) missense probably damaging 1.00
IGL01868:Sphkap APN 1 83,258,120 (GRCm39) splice site probably null
IGL02101:Sphkap APN 1 83,268,708 (GRCm39) missense probably damaging 1.00
IGL02471:Sphkap APN 1 83,253,897 (GRCm39) missense probably damaging 1.00
IGL02943:Sphkap APN 1 83,254,552 (GRCm39) missense probably damaging 1.00
IGL02945:Sphkap APN 1 83,254,552 (GRCm39) missense probably damaging 1.00
IGL03008:Sphkap APN 1 83,254,552 (GRCm39) missense probably damaging 1.00
IGL03031:Sphkap APN 1 83,254,552 (GRCm39) missense probably damaging 1.00
IGL03059:Sphkap APN 1 83,234,963 (GRCm39) missense probably damaging 0.97
IGL03085:Sphkap APN 1 83,258,075 (GRCm39) missense possibly damaging 0.92
IGL03355:Sphkap APN 1 83,258,224 (GRCm39) missense probably damaging 1.00
IGL03356:Sphkap APN 1 83,254,552 (GRCm39) missense probably damaging 1.00
IGL03368:Sphkap APN 1 83,253,397 (GRCm39) missense probably benign 0.14
R0294:Sphkap UTSW 1 83,255,966 (GRCm39) missense possibly damaging 0.72
R0308:Sphkap UTSW 1 83,254,690 (GRCm39) missense probably damaging 1.00
R0478:Sphkap UTSW 1 83,256,432 (GRCm39) missense probably damaging 1.00
R0606:Sphkap UTSW 1 83,258,145 (GRCm39) missense probably damaging 1.00
R0678:Sphkap UTSW 1 83,256,349 (GRCm39) missense probably benign 0.03
R1216:Sphkap UTSW 1 83,268,698 (GRCm39) missense probably damaging 1.00
R1253:Sphkap UTSW 1 83,256,619 (GRCm39) missense possibly damaging 0.56
R1532:Sphkap UTSW 1 83,234,924 (GRCm39) missense probably damaging 1.00
R1635:Sphkap UTSW 1 83,256,121 (GRCm39) missense probably benign 0.03
R1655:Sphkap UTSW 1 83,255,236 (GRCm39) nonsense probably null
R1657:Sphkap UTSW 1 83,255,236 (GRCm39) nonsense probably null
R1700:Sphkap UTSW 1 83,255,236 (GRCm39) nonsense probably null
R1701:Sphkap UTSW 1 83,255,236 (GRCm39) nonsense probably null
R1734:Sphkap UTSW 1 83,255,236 (GRCm39) nonsense probably null
R1736:Sphkap UTSW 1 83,255,236 (GRCm39) nonsense probably null
R1743:Sphkap UTSW 1 83,255,236 (GRCm39) nonsense probably null
R1744:Sphkap UTSW 1 83,255,236 (GRCm39) nonsense probably null
R1760:Sphkap UTSW 1 83,255,265 (GRCm39) missense probably benign 0.29
R1893:Sphkap UTSW 1 83,256,687 (GRCm39) missense probably benign 0.02
R1937:Sphkap UTSW 1 83,245,162 (GRCm39) nonsense probably null
R1986:Sphkap UTSW 1 83,255,643 (GRCm39) missense probably damaging 1.00
R1993:Sphkap UTSW 1 83,255,236 (GRCm39) nonsense probably null
R1995:Sphkap UTSW 1 83,255,236 (GRCm39) nonsense probably null
R2001:Sphkap UTSW 1 83,254,383 (GRCm39) missense probably damaging 1.00
R2004:Sphkap UTSW 1 83,255,632 (GRCm39) missense probably benign 0.04
R2111:Sphkap UTSW 1 83,253,602 (GRCm39) missense probably benign 0.00
R2112:Sphkap UTSW 1 83,253,602 (GRCm39) missense probably benign 0.00
R2156:Sphkap UTSW 1 83,255,710 (GRCm39) missense probably benign 0.03
R2182:Sphkap UTSW 1 83,254,405 (GRCm39) missense probably damaging 1.00
R2271:Sphkap UTSW 1 83,234,942 (GRCm39) missense probably damaging 1.00
R3712:Sphkap UTSW 1 83,254,833 (GRCm39) missense probably benign 0.27
R3919:Sphkap UTSW 1 83,254,179 (GRCm39) missense probably damaging 1.00
R3980:Sphkap UTSW 1 83,245,215 (GRCm39) splice site probably null
R4130:Sphkap UTSW 1 83,255,619 (GRCm39) missense probably damaging 0.96
R4539:Sphkap UTSW 1 83,255,514 (GRCm39) missense probably benign 0.00
R4602:Sphkap UTSW 1 83,256,782 (GRCm39) nonsense probably null
R4735:Sphkap UTSW 1 83,256,838 (GRCm39) missense probably benign 0.01
R4793:Sphkap UTSW 1 83,255,805 (GRCm39) missense possibly damaging 0.77
R4849:Sphkap UTSW 1 83,255,105 (GRCm39) missense probably benign 0.03
R4880:Sphkap UTSW 1 83,266,538 (GRCm39) missense probably damaging 1.00
R5213:Sphkap UTSW 1 83,258,224 (GRCm39) missense probably damaging 1.00
R5277:Sphkap UTSW 1 83,253,885 (GRCm39) missense probably benign 0.04
R5331:Sphkap UTSW 1 83,254,503 (GRCm39) missense probably benign 0.08
R5632:Sphkap UTSW 1 83,256,006 (GRCm39) missense probably benign 0.01
R5647:Sphkap UTSW 1 83,385,720 (GRCm39) missense probably damaging 0.98
R5751:Sphkap UTSW 1 83,253,618 (GRCm39) missense probably benign 0.27
R5935:Sphkap UTSW 1 83,317,320 (GRCm39) missense probably damaging 1.00
R5999:Sphkap UTSW 1 83,245,126 (GRCm39) missense probably benign 0.02
R6232:Sphkap UTSW 1 83,258,200 (GRCm39) missense probably damaging 1.00
R6318:Sphkap UTSW 1 83,256,099 (GRCm39) missense probably damaging 1.00
R6474:Sphkap UTSW 1 83,256,544 (GRCm39) missense probably damaging 1.00
R6602:Sphkap UTSW 1 83,253,479 (GRCm39) missense possibly damaging 0.75
R6674:Sphkap UTSW 1 83,255,555 (GRCm39) missense probably benign 0.37
R6716:Sphkap UTSW 1 83,339,949 (GRCm39) critical splice donor site probably null
R6803:Sphkap UTSW 1 83,258,231 (GRCm39) missense probably damaging 1.00
R6880:Sphkap UTSW 1 83,234,978 (GRCm39) missense probably damaging 1.00
R6941:Sphkap UTSW 1 83,385,811 (GRCm39) start gained probably benign
R7170:Sphkap UTSW 1 83,243,706 (GRCm39) missense probably damaging 0.99
R7263:Sphkap UTSW 1 83,254,399 (GRCm39) missense probably damaging 1.00
R7422:Sphkap UTSW 1 83,241,547 (GRCm39) missense probably benign 0.02
R7640:Sphkap UTSW 1 83,256,649 (GRCm39) missense possibly damaging 0.94
R7722:Sphkap UTSW 1 83,256,642 (GRCm39) missense probably benign 0.00
R7887:Sphkap UTSW 1 83,255,133 (GRCm39) missense probably benign 0.00
R7974:Sphkap UTSW 1 83,256,683 (GRCm39) missense probably damaging 1.00
R7990:Sphkap UTSW 1 83,245,066 (GRCm39) missense probably damaging 0.99
R8096:Sphkap UTSW 1 83,255,279 (GRCm39) missense probably damaging 0.98
R8110:Sphkap UTSW 1 83,256,492 (GRCm39) missense possibly damaging 0.82
R8125:Sphkap UTSW 1 83,241,303 (GRCm39) missense probably damaging 1.00
R8153:Sphkap UTSW 1 83,255,730 (GRCm39) missense possibly damaging 0.93
R8245:Sphkap UTSW 1 83,256,492 (GRCm39) missense probably benign 0.14
R8394:Sphkap UTSW 1 83,253,797 (GRCm39) missense probably benign 0.08
R8443:Sphkap UTSW 1 83,255,953 (GRCm39) missense probably benign 0.00
R8508:Sphkap UTSW 1 83,254,221 (GRCm39) missense probably damaging 1.00
R8531:Sphkap UTSW 1 83,254,909 (GRCm39) missense probably damaging 1.00
R8673:Sphkap UTSW 1 83,253,561 (GRCm39) missense probably benign 0.01
R8674:Sphkap UTSW 1 83,255,565 (GRCm39) missense probably benign 0.04
R8682:Sphkap UTSW 1 83,256,997 (GRCm39) missense probably benign 0.21
R8837:Sphkap UTSW 1 83,253,384 (GRCm39) missense possibly damaging 0.87
R8857:Sphkap UTSW 1 83,258,288 (GRCm39) missense probably damaging 1.00
R8902:Sphkap UTSW 1 83,256,685 (GRCm39) missense probably benign 0.21
R8916:Sphkap UTSW 1 83,255,108 (GRCm39) missense possibly damaging 0.87
R8944:Sphkap UTSW 1 83,256,927 (GRCm39) missense probably benign 0.39
R9154:Sphkap UTSW 1 83,234,982 (GRCm39) missense probably damaging 1.00
R9579:Sphkap UTSW 1 83,255,295 (GRCm39) missense probably damaging 0.99
R9616:Sphkap UTSW 1 83,254,989 (GRCm39) missense probably damaging 1.00
R9781:Sphkap UTSW 1 83,255,772 (GRCm39) missense possibly damaging 0.62
Z1088:Sphkap UTSW 1 83,256,325 (GRCm39) missense probably damaging 1.00
Z1088:Sphkap UTSW 1 83,254,329 (GRCm39) missense probably damaging 1.00
Z1176:Sphkap UTSW 1 83,258,163 (GRCm39) missense possibly damaging 0.61
Z1176:Sphkap UTSW 1 83,253,754 (GRCm39) nonsense probably null
Z1177:Sphkap UTSW 1 83,254,152 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGCTGGCCCATGTTTCATG -3'
(R):5'- AGCTGCCCCTCTAAGCAATC -3'

Sequencing Primer
(F):5'- GGCCCATGTTTCATGAATTAGC -3'
(R):5'- TACATGTTAAGGGACATCGCG -3'
Posted On 2019-11-26