Incidental Mutation 'R2004:Sphkap'
ID 223293
Institutional Source Beutler Lab
Gene Symbol Sphkap
Ensembl Gene ENSMUSG00000026163
Gene Name SPHK1 interactor, AKAP domain containing
Synonyms 4930544G21Rik, A930009L15Rik, SKIP
MMRRC Submission 040013-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R2004 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 83254139-83408200 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83277911 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 706 (M706V)
Ref Sequence ENSEMBL: ENSMUSP00000124872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159078] [ENSMUST00000160953]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000053075
Predicted Effect probably benign
Transcript: ENSMUST00000159078
AA Change: M419V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: M419V

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 benign
Transcript: ENSMUST00000160953
AA Change: M706V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: M706V

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,092,562 (GRCm38) Y146* probably null Het
Adcy2 A G 13: 68,796,603 (GRCm38) L220P probably damaging Het
Agl T C 3: 116,781,265 (GRCm38) Y660C probably damaging Het
Ak1 A G 2: 32,629,610 (GRCm38) T17A probably benign Het
Amph G A 13: 19,142,028 (GRCm38) V643M probably damaging Het
Ankrd11 A T 8: 122,902,422 (GRCm38) probably null Het
Ap5b1 T C 19: 5,570,474 (GRCm38) S641P possibly damaging Het
Apoc4 A G 7: 19,681,379 (GRCm38) M1T probably null Het
Arhgap5 T C 12: 52,518,034 (GRCm38) V596A probably benign Het
Ascc3 A G 10: 50,617,742 (GRCm38) E91G probably damaging Het
Bach2 T A 4: 32,580,055 (GRCm38) V637E probably benign Het
Bicd2 T G 13: 49,379,405 (GRCm38) L489R possibly damaging Het
Bltp1 C T 3: 36,895,378 (GRCm38) T2I possibly damaging Het
Boc A T 16: 44,501,644 (GRCm38) probably null Het
Cbln2 T A 18: 86,716,666 (GRCm38) V188D probably damaging Het
Ccl11 A C 11: 82,062,297 (GRCm38) T94P probably damaging Het
Cd109 A T 9: 78,703,762 (GRCm38) H1220L probably benign Het
Cd226 A G 18: 89,247,311 (GRCm38) I125V probably benign Het
Cep135 T A 5: 76,632,329 (GRCm38) probably null Het
Cgnl1 T G 9: 71,630,539 (GRCm38) E1233A probably damaging Het
Ckap5 T A 2: 91,607,546 (GRCm38) D1597E possibly damaging Het
Clptm1 A G 7: 19,646,837 (GRCm38) I63T possibly damaging Het
Cpsf7 C T 19: 10,540,709 (GRCm38) P428S probably damaging Het
Cuedc1 C T 11: 88,177,390 (GRCm38) P155S probably damaging Het
Dgkb T C 12: 38,084,229 (GRCm38) Y45H probably damaging Het
Dglucy T C 12: 100,856,922 (GRCm38) F459L probably damaging Het
Dmp1 T A 5: 104,211,924 (GRCm38) D155E possibly damaging Het
Dnah1 T A 14: 31,301,856 (GRCm38) I960F possibly damaging Het
Drosha G T 15: 12,915,381 (GRCm38) M795I probably damaging Het
Dsg1b A G 18: 20,396,475 (GRCm38) T326A probably damaging Het
Dusp16 T G 6: 134,718,839 (GRCm38) N343T probably benign Het
Faim2 T C 15: 99,500,246 (GRCm38) S274G possibly damaging Het
Fhip2a G T 19: 57,381,892 (GRCm38) V523L probably benign Het
Fndc1 T C 17: 7,804,929 (GRCm38) R65G probably damaging Het
Fnip2 A T 3: 79,512,325 (GRCm38) probably benign Het
Grm3 T C 5: 9,589,793 (GRCm38) Y84C possibly damaging Het
Herc2 T C 7: 56,137,859 (GRCm38) F1755L probably damaging Het
Hivep1 C T 13: 42,160,149 (GRCm38) T1955I possibly damaging Het
Ift20 T C 11: 78,540,971 (GRCm38) I97T probably damaging Het
Il1f5 T C 2: 24,281,364 (GRCm38) C155R probably damaging Het
Lca5l T A 16: 96,162,649 (GRCm38) K358N probably damaging Het
Lca5l T C 16: 96,176,018 (GRCm38) N196S possibly damaging Het
Maf1 G A 15: 76,353,363 (GRCm38) D175N probably damaging Het
Mical3 T C 6: 120,951,322 (GRCm38) K996E probably damaging Het
Midn A G 10: 80,155,149 (GRCm38) N331S probably benign Het
Mki67 T A 7: 135,698,509 (GRCm38) K1599* probably null Het
Mlx A G 11: 101,088,979 (GRCm38) Q162R possibly damaging Het
Nalf1 A G 8: 9,770,607 (GRCm38) S138P probably benign Het
Ngp T C 9: 110,420,861 (GRCm38) C76R probably damaging Het
Nin C T 12: 70,025,477 (GRCm38) G1210D probably benign Het
Nlgn1 A G 3: 25,433,870 (GRCm38) I738T probably benign Het
Nop53 A C 7: 15,938,228 (GRCm38) F465C probably damaging Het
Npas3 A G 12: 54,067,897 (GRCm38) D503G possibly damaging Het
Npbwr1 T A 1: 5,916,351 (GRCm38) S315C probably damaging Het
Nup42 G T 5: 24,181,991 (GRCm38) G260* probably null Het
Ogdh G C 11: 6,334,626 (GRCm38) R200P possibly damaging Het
Or4b13 T A 2: 90,252,692 (GRCm38) I99L probably benign Het
Or52n20 A G 7: 104,671,601 (GRCm38) T300A possibly damaging Het
Or5m13b T G 2: 85,923,595 (GRCm38) probably null Het
Or6ae1 C T 7: 140,162,816 (GRCm38) V45I probably damaging Het
Or7g16 G A 9: 18,815,505 (GRCm38) S263L probably benign Het
Or7g33 A T 9: 19,537,392 (GRCm38) C179* probably null Het
Ovgp1 T A 3: 105,986,993 (GRCm38) probably benign Het
Papln T A 12: 83,773,218 (GRCm38) C150S probably damaging Het
Pde1c A T 6: 56,159,011 (GRCm38) L316Q probably damaging Het
Pdlim2 C T 14: 70,164,779 (GRCm38) R296H probably damaging Het
Piezo2 G T 18: 63,144,926 (GRCm38) D302E probably damaging Het
Pirb A T 7: 3,717,638 (GRCm38) L287Q probably benign Het
Plin1 A G 7: 79,725,630 (GRCm38) probably benign Het
Plxnc1 A G 10: 94,852,622 (GRCm38) I698T probably damaging Het
Ppp1r12c G T 7: 4,482,975 (GRCm38) C572* probably null Het
Ptgis T C 2: 167,214,849 (GRCm38) M273V possibly damaging Het
Samd14 C A 11: 95,023,284 (GRCm38) T283K probably damaging Het
Scnn1g A T 7: 121,738,188 (GRCm38) K91* probably null Het
Slc24a4 A G 12: 102,213,907 (GRCm38) Q95R probably damaging Het
Slfn9 T G 11: 82,988,201 (GRCm38) D34A probably benign Het
Smarca4 A T 9: 21,677,480 (GRCm38) I1193F probably damaging Het
Spata31e5 A G 1: 28,777,179 (GRCm38) W591R probably damaging Het
Stard9 C A 2: 120,673,636 (GRCm38) S221R probably damaging Het
Stxbp1 T C 2: 32,798,189 (GRCm38) D488G probably damaging Het
Sugp2 C T 8: 70,242,656 (GRCm38) probably null Het
Tekt5 T C 16: 10,395,206 (GRCm38) I72V probably benign Het
Themis T A 10: 28,782,724 (GRCm38) N582K probably benign Het
Tmed11 C A 5: 108,786,134 (GRCm38) M65I possibly damaging Het
Top3a G T 11: 60,742,489 (GRCm38) P927Q probably damaging Het
Trpa1 A T 1: 14,905,983 (GRCm38) N165K possibly damaging Het
Tsfm A G 10: 127,030,794 (GRCm38) S2P probably damaging Het
Wdr47 C A 3: 108,627,442 (GRCm38) S559* probably null Het
Wnt2b T C 3: 104,953,015 (GRCm38) Y192C probably damaging Het
Zfp280b A G 10: 76,038,536 (GRCm38) D83G probably benign Het
Zfp345 T C 2: 150,472,118 (GRCm38) T500A possibly damaging Het
Zfp78 T A 7: 6,379,075 (GRCm38) C343S probably damaging Het
Other mutations in Sphkap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Sphkap APN 1 83,280,516 (GRCm38) missense probably damaging 1.00
IGL00337:Sphkap APN 1 83,339,608 (GRCm38) missense probably damaging 1.00
IGL00470:Sphkap APN 1 83,277,910 (GRCm38) missense possibly damaging 0.87
IGL00577:Sphkap APN 1 83,278,844 (GRCm38) missense probably damaging 1.00
IGL00657:Sphkap APN 1 83,276,375 (GRCm38) missense probably damaging 1.00
IGL01868:Sphkap APN 1 83,280,399 (GRCm38) splice site probably null
IGL02101:Sphkap APN 1 83,290,987 (GRCm38) missense probably damaging 1.00
IGL02471:Sphkap APN 1 83,276,176 (GRCm38) missense probably damaging 1.00
IGL02943:Sphkap APN 1 83,276,831 (GRCm38) missense probably damaging 1.00
IGL02945:Sphkap APN 1 83,276,831 (GRCm38) missense probably damaging 1.00
IGL03008:Sphkap APN 1 83,276,831 (GRCm38) missense probably damaging 1.00
IGL03031:Sphkap APN 1 83,276,831 (GRCm38) missense probably damaging 1.00
IGL03059:Sphkap APN 1 83,257,242 (GRCm38) missense probably damaging 0.97
IGL03085:Sphkap APN 1 83,280,354 (GRCm38) missense possibly damaging 0.92
IGL03355:Sphkap APN 1 83,280,503 (GRCm38) missense probably damaging 1.00
IGL03356:Sphkap APN 1 83,276,831 (GRCm38) missense probably damaging 1.00
IGL03368:Sphkap APN 1 83,275,676 (GRCm38) missense probably benign 0.14
R0294:Sphkap UTSW 1 83,278,245 (GRCm38) missense possibly damaging 0.72
R0308:Sphkap UTSW 1 83,276,969 (GRCm38) missense probably damaging 1.00
R0478:Sphkap UTSW 1 83,278,711 (GRCm38) missense probably damaging 1.00
R0606:Sphkap UTSW 1 83,280,424 (GRCm38) missense probably damaging 1.00
R0678:Sphkap UTSW 1 83,278,628 (GRCm38) missense probably benign 0.03
R1216:Sphkap UTSW 1 83,290,977 (GRCm38) missense probably damaging 1.00
R1253:Sphkap UTSW 1 83,278,898 (GRCm38) missense possibly damaging 0.56
R1532:Sphkap UTSW 1 83,257,203 (GRCm38) missense probably damaging 1.00
R1635:Sphkap UTSW 1 83,278,400 (GRCm38) missense probably benign 0.03
R1655:Sphkap UTSW 1 83,277,515 (GRCm38) nonsense probably null
R1657:Sphkap UTSW 1 83,277,515 (GRCm38) nonsense probably null
R1700:Sphkap UTSW 1 83,277,515 (GRCm38) nonsense probably null
R1701:Sphkap UTSW 1 83,277,515 (GRCm38) nonsense probably null
R1734:Sphkap UTSW 1 83,277,515 (GRCm38) nonsense probably null
R1736:Sphkap UTSW 1 83,277,515 (GRCm38) nonsense probably null
R1743:Sphkap UTSW 1 83,277,515 (GRCm38) nonsense probably null
R1744:Sphkap UTSW 1 83,277,515 (GRCm38) nonsense probably null
R1760:Sphkap UTSW 1 83,277,544 (GRCm38) missense probably benign 0.29
R1893:Sphkap UTSW 1 83,278,966 (GRCm38) missense probably benign 0.02
R1937:Sphkap UTSW 1 83,267,441 (GRCm38) nonsense probably null
R1986:Sphkap UTSW 1 83,277,922 (GRCm38) missense probably damaging 1.00
R1993:Sphkap UTSW 1 83,277,515 (GRCm38) nonsense probably null
R1995:Sphkap UTSW 1 83,277,515 (GRCm38) nonsense probably null
R2001:Sphkap UTSW 1 83,276,662 (GRCm38) missense probably damaging 1.00
R2111:Sphkap UTSW 1 83,275,881 (GRCm38) missense probably benign 0.00
R2112:Sphkap UTSW 1 83,275,881 (GRCm38) missense probably benign 0.00
R2156:Sphkap UTSW 1 83,277,989 (GRCm38) missense probably benign 0.03
R2182:Sphkap UTSW 1 83,276,684 (GRCm38) missense probably damaging 1.00
R2271:Sphkap UTSW 1 83,257,221 (GRCm38) missense probably damaging 1.00
R3712:Sphkap UTSW 1 83,277,112 (GRCm38) missense probably benign 0.27
R3919:Sphkap UTSW 1 83,276,458 (GRCm38) missense probably damaging 1.00
R3980:Sphkap UTSW 1 83,267,494 (GRCm38) splice site probably null
R4130:Sphkap UTSW 1 83,277,898 (GRCm38) missense probably damaging 0.96
R4539:Sphkap UTSW 1 83,277,793 (GRCm38) missense probably benign 0.00
R4602:Sphkap UTSW 1 83,279,061 (GRCm38) nonsense probably null
R4735:Sphkap UTSW 1 83,279,117 (GRCm38) missense probably benign 0.01
R4793:Sphkap UTSW 1 83,278,084 (GRCm38) missense possibly damaging 0.77
R4849:Sphkap UTSW 1 83,277,384 (GRCm38) missense probably benign 0.03
R4880:Sphkap UTSW 1 83,288,817 (GRCm38) missense probably damaging 1.00
R5213:Sphkap UTSW 1 83,280,503 (GRCm38) missense probably damaging 1.00
R5277:Sphkap UTSW 1 83,276,164 (GRCm38) missense probably benign 0.04
R5331:Sphkap UTSW 1 83,276,782 (GRCm38) missense probably benign 0.08
R5632:Sphkap UTSW 1 83,278,285 (GRCm38) missense probably benign 0.01
R5647:Sphkap UTSW 1 83,407,999 (GRCm38) missense probably damaging 0.98
R5751:Sphkap UTSW 1 83,275,897 (GRCm38) missense probably benign 0.27
R5935:Sphkap UTSW 1 83,339,599 (GRCm38) missense probably damaging 1.00
R5999:Sphkap UTSW 1 83,267,405 (GRCm38) missense probably benign 0.02
R6232:Sphkap UTSW 1 83,280,479 (GRCm38) missense probably damaging 1.00
R6318:Sphkap UTSW 1 83,278,378 (GRCm38) missense probably damaging 1.00
R6474:Sphkap UTSW 1 83,278,823 (GRCm38) missense probably damaging 1.00
R6602:Sphkap UTSW 1 83,275,758 (GRCm38) missense possibly damaging 0.75
R6674:Sphkap UTSW 1 83,277,834 (GRCm38) missense probably benign 0.37
R6716:Sphkap UTSW 1 83,362,228 (GRCm38) critical splice donor site probably null
R6803:Sphkap UTSW 1 83,280,510 (GRCm38) missense probably damaging 1.00
R6880:Sphkap UTSW 1 83,257,257 (GRCm38) missense probably damaging 1.00
R6941:Sphkap UTSW 1 83,408,090 (GRCm38) start gained probably benign
R7170:Sphkap UTSW 1 83,265,985 (GRCm38) missense probably damaging 0.99
R7263:Sphkap UTSW 1 83,276,678 (GRCm38) missense probably damaging 1.00
R7422:Sphkap UTSW 1 83,263,826 (GRCm38) missense probably benign 0.02
R7640:Sphkap UTSW 1 83,278,928 (GRCm38) missense possibly damaging 0.94
R7722:Sphkap UTSW 1 83,278,921 (GRCm38) missense probably benign 0.00
R7810:Sphkap UTSW 1 83,276,300 (GRCm38) missense probably damaging 1.00
R7887:Sphkap UTSW 1 83,277,412 (GRCm38) missense probably benign 0.00
R7974:Sphkap UTSW 1 83,278,962 (GRCm38) missense probably damaging 1.00
R7990:Sphkap UTSW 1 83,267,345 (GRCm38) missense probably damaging 0.99
R8096:Sphkap UTSW 1 83,277,558 (GRCm38) missense probably damaging 0.98
R8110:Sphkap UTSW 1 83,278,771 (GRCm38) missense possibly damaging 0.82
R8125:Sphkap UTSW 1 83,263,582 (GRCm38) missense probably damaging 1.00
R8153:Sphkap UTSW 1 83,278,009 (GRCm38) missense possibly damaging 0.93
R8245:Sphkap UTSW 1 83,278,771 (GRCm38) missense probably benign 0.14
R8394:Sphkap UTSW 1 83,276,076 (GRCm38) missense probably benign 0.08
R8443:Sphkap UTSW 1 83,278,232 (GRCm38) missense probably benign 0.00
R8508:Sphkap UTSW 1 83,276,500 (GRCm38) missense probably damaging 1.00
R8531:Sphkap UTSW 1 83,277,188 (GRCm38) missense probably damaging 1.00
R8673:Sphkap UTSW 1 83,275,840 (GRCm38) missense probably benign 0.01
R8674:Sphkap UTSW 1 83,277,844 (GRCm38) missense probably benign 0.04
R8682:Sphkap UTSW 1 83,279,276 (GRCm38) missense probably benign 0.21
R8837:Sphkap UTSW 1 83,275,663 (GRCm38) missense possibly damaging 0.87
R8857:Sphkap UTSW 1 83,280,567 (GRCm38) missense probably damaging 1.00
R8902:Sphkap UTSW 1 83,278,964 (GRCm38) missense probably benign 0.21
R8916:Sphkap UTSW 1 83,277,387 (GRCm38) missense possibly damaging 0.87
R8944:Sphkap UTSW 1 83,279,206 (GRCm38) missense probably benign 0.39
R9154:Sphkap UTSW 1 83,257,261 (GRCm38) missense probably damaging 1.00
R9579:Sphkap UTSW 1 83,277,574 (GRCm38) missense probably damaging 0.99
R9616:Sphkap UTSW 1 83,277,268 (GRCm38) missense probably damaging 1.00
R9781:Sphkap UTSW 1 83,278,051 (GRCm38) missense possibly damaging 0.62
Z1088:Sphkap UTSW 1 83,278,604 (GRCm38) missense probably damaging 1.00
Z1088:Sphkap UTSW 1 83,276,608 (GRCm38) missense probably damaging 1.00
Z1176:Sphkap UTSW 1 83,280,442 (GRCm38) missense possibly damaging 0.61
Z1176:Sphkap UTSW 1 83,276,033 (GRCm38) nonsense probably null
Z1177:Sphkap UTSW 1 83,276,431 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TACCGTGTGCATTGCTAAGAGG -3'
(R):5'- CAAGGCCAGATGCTTACAGC -3'

Sequencing Primer
(F):5'- CATTGCTAAGAGGCTGGCTGC -3'
(R):5'- AGCTCTTGGAATCTGTGAACCAG -3'
Posted On 2014-08-25