Incidental Mutation 'R2182:Sphkap'
ID 237214
Institutional Source Beutler Lab
Gene Symbol Sphkap
Ensembl Gene ENSMUSG00000026163
Gene Name SPHK1 interactor, AKAP domain containing
Synonyms SKIP, A930009L15Rik, 4930544G21Rik
MMRRC Submission 040184-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R2182 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 83233163-83385853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83254405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 828 (S828P)
Ref Sequence ENSEMBL: ENSMUSP00000124384 (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 damaging
Transcript: ENSMUST00000159078
AA Change: S828P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: S828P

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: S1115P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: S1115P

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A G 9: 53,334,243 (GRCm39) H17R probably damaging Het
Abca15 G A 7: 119,939,450 (GRCm39) W281* probably null Het
Aloxe3 G A 11: 69,020,426 (GRCm39) V157M possibly damaging Het
Arhgap26 G T 18: 39,490,862 (GRCm39) probably benign Het
Atp7b T C 8: 22,504,563 (GRCm39) N698S probably damaging Het
Clec4a4 A G 6: 122,990,716 (GRCm39) probably null Het
Clgn C T 8: 84,137,039 (GRCm39) T252I possibly damaging Het
Cyp2a12 A T 7: 26,730,571 (GRCm39) N179Y probably damaging Het
D630045J12Rik C T 6: 38,151,082 (GRCm39) probably null Het
Dennd5a G T 7: 109,533,201 (GRCm39) R190S probably benign Het
Dtx4 C A 19: 12,460,471 (GRCm39) G384V probably null Het
Dxo T C 17: 35,057,868 (GRCm39) V191A probably benign Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Fntb A G 12: 76,909,309 (GRCm39) N99S probably benign Het
Gm5773 T A 3: 93,680,820 (GRCm39) I164K probably benign Het
Golm2 A G 2: 121,697,909 (GRCm39) D75G probably damaging Het
Hyal5 T C 6: 24,877,879 (GRCm39) I325T probably damaging Het
Igsf8 G A 1: 172,118,295 (GRCm39) probably null Het
Lamc2 A G 1: 153,002,612 (GRCm39) V17A possibly damaging Het
Lpxn T C 19: 12,810,122 (GRCm39) probably null Het
Macf1 A G 4: 123,386,464 (GRCm39) V1296A probably damaging Het
Mpdz A T 4: 81,266,959 (GRCm39) L318Q probably damaging Het
Mpl T A 4: 118,314,610 (GRCm39) Q13L probably benign Het
Mpnd A G 17: 56,322,964 (GRCm39) S399G probably benign Het
Mrps5 T C 2: 127,444,407 (GRCm39) L347P probably damaging Het
Naip1 T A 13: 100,550,188 (GRCm39) Q1217H probably benign Het
Nav2 G A 7: 49,247,002 (GRCm39) V2176I probably benign Het
Obi1 A G 14: 104,743,612 (GRCm39) S156P possibly damaging Het
Or13p3 T C 4: 118,567,542 (GRCm39) *313R probably null Het
Or7g33 T C 9: 19,448,638 (GRCm39) N196S probably benign Het
Or8b43 A G 9: 38,360,420 (GRCm39) N84S probably benign Het
Or8g36 A T 9: 39,422,722 (GRCm39) M98K probably damaging Het
Pbx2 C A 17: 34,814,640 (GRCm39) Y324* probably null Het
Pcsk7 T A 9: 45,839,917 (GRCm39) C702S probably benign Het
Pramel11 T A 4: 143,623,760 (GRCm39) H138L possibly damaging Het
Rictor T C 15: 6,801,685 (GRCm39) S458P probably damaging Het
Scaf4 T C 16: 90,027,028 (GRCm39) M905V probably benign Het
Scarf2 T C 16: 17,620,886 (GRCm39) C185R probably damaging Het
Scd1 T G 19: 44,391,732 (GRCm39) I101L probably benign Het
Slc6a2 A G 8: 93,687,876 (GRCm39) M1V probably null Het
Sost T C 11: 101,854,676 (GRCm39) Y211C probably damaging Het
Tnn T C 1: 159,968,170 (GRCm39) probably null Het
Tnrc18 T C 5: 142,745,816 (GRCm39) K1319R unknown Het
Vmn2r60 A G 7: 41,844,931 (GRCm39) T765A probably benign Het
Vmn2r91 C A 17: 18,325,691 (GRCm39) T103K possibly damaging Het
Zbtb44 T C 9: 30,977,972 (GRCm39) C429R possibly damaging Het
Zc3h4 G A 7: 16,156,441 (GRCm39) G327D unknown Het
Zfp292 A G 4: 34,807,417 (GRCm39) C1876R probably damaging Het
Zfp839 C T 12: 110,834,772 (GRCm39) L676F probably damaging Het
Zg16 A G 7: 126,649,544 (GRCm39) L139P probably damaging Het
Zscan12 A G 13: 21,552,961 (GRCm39) I262V probably benign 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
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
R7810:Sphkap UTSW 1 83,254,021 (GRCm39) missense probably damaging 1.00
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'- ACTGGATTGCTTAGAGGGGC -3'
(R):5'- TCACAGAGTTTTCCATGGTGG -3'

Sequencing Primer
(F):5'- ATTGCTTAGAGGGGCAGCTC -3'
(R):5'- AAGGCCAGAGTTGTTCCCG -3'
Posted On 2014-10-02