Incidental Mutation 'R4849:Sphkap'
ID 373354
Institutional Source Beutler Lab
Gene Symbol Sphkap
Ensembl Gene ENSMUSG00000026163
Gene Name SPHK1 interactor, AKAP domain containing
Synonyms SKIP, A930009L15Rik, 4930544G21Rik
MMRRC Submission 042461-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4849 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 83233163-83385853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 83255105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 881 (E881D)
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: E594D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: E594D

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: E881D

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: E881D

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
Meta Mutation Damage Score 0.1152 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (90/92)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G T 7: 28,314,877 (GRCm39) R239S possibly damaging Het
Angptl1 C A 1: 156,684,735 (GRCm39) N301K probably benign Het
Ankrd26 T A 6: 118,509,257 (GRCm39) T603S probably benign Het
App T C 16: 84,853,322 (GRCm39) D252G unknown Het
Atxn3 A G 12: 101,900,627 (GRCm39) S219P probably benign Het
Birc6 T C 17: 74,954,383 (GRCm39) S3397P probably damaging Het
Bivm A G 1: 44,182,033 (GRCm39) I414V possibly damaging Het
Cemip A G 7: 83,584,945 (GRCm39) F1324L possibly damaging Het
Ckap5 T A 2: 91,445,616 (GRCm39) N1724K probably damaging Het
Corin T A 5: 72,460,178 (GRCm39) M1035L probably damaging Het
Ctnna3 T C 10: 64,709,094 (GRCm39) I711T probably damaging Het
Cts6 A T 13: 61,349,415 (GRCm39) W98R probably null Het
Dip2a A G 10: 76,130,367 (GRCm39) S580P probably damaging Het
Dock6 A G 9: 21,723,068 (GRCm39) probably null Het
Dusp15 T A 2: 152,791,002 (GRCm39) T32S probably damaging Het
Eogt T A 6: 97,093,016 (GRCm39) N387I probably damaging Het
Evx2 T C 2: 74,489,675 (GRCm39) D29G probably benign Het
Fat1 A G 8: 45,466,007 (GRCm39) N1422S probably benign Het
Fat2 T C 11: 55,201,463 (GRCm39) D537G probably damaging Het
Fat3 A C 9: 16,289,244 (GRCm39) I93S probably benign Het
Fem1b T C 9: 62,704,576 (GRCm39) E228G probably damaging Het
Fh1 A G 1: 175,448,072 (GRCm39) T25A probably benign Het
Fndc3b A G 3: 27,514,097 (GRCm39) W695R probably damaging Het
Gaa G A 11: 119,163,813 (GRCm39) V222I possibly damaging Het
Ggnbp1 T C 17: 27,251,947 (GRCm39) probably null Het
Gipc1 A G 8: 84,388,756 (GRCm39) Y154C probably benign Het
Gm5356 G T 8: 89,913,670 (GRCm39) noncoding transcript Het
Gnl1 T A 17: 36,298,603 (GRCm39) probably null Het
Gpcpd1 C T 2: 132,376,019 (GRCm39) G605R probably damaging Het
Guca1a T C 17: 47,705,662 (GRCm39) T177A possibly damaging Het
Ifit1bl1 T C 19: 34,572,076 (GRCm39) E127G probably damaging Het
Ift81 A T 5: 122,729,282 (GRCm39) I350N probably damaging Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Ing4 A G 6: 125,020,946 (GRCm39) R23G probably damaging Het
Ins1 A G 19: 52,253,384 (GRCm39) N108S probably damaging Het
Iqce A T 5: 140,679,214 (GRCm39) M72K possibly damaging Het
Itga3 C A 11: 94,967,097 (GRCm39) M22I probably benign Het
Kctd18 T C 1: 58,001,152 (GRCm39) E201G probably damaging Het
Klc1 A G 12: 111,748,129 (GRCm39) N344S probably damaging Het
Klrb1f A T 6: 129,033,347 (GRCm39) I192F probably damaging Het
Klrg2 A T 6: 38,607,214 (GRCm39) probably null Het
Kntc1 A C 5: 123,897,128 (GRCm39) I164L probably benign Het
Ltf T A 9: 110,855,058 (GRCm39) I357K probably benign Het
Mr1 T C 1: 155,006,436 (GRCm39) T304A probably benign Het
Msh6 C T 17: 88,290,947 (GRCm39) R178C possibly damaging Het
Mtch1 T C 17: 29,566,565 (GRCm39) D66G probably benign Het
Mtmr7 A G 8: 41,062,040 (GRCm39) V15A probably benign Het
Mtss2 A T 8: 111,452,875 (GRCm39) H40L possibly damaging Het
Mxra8 A G 4: 155,925,331 (GRCm39) probably benign Het
Myo3b T C 2: 70,075,253 (GRCm39) L535P probably damaging Het
Neurl2 T A 2: 164,674,739 (GRCm39) probably null Het
Nfia A C 4: 97,970,048 (GRCm39) T503P probably damaging Het
Noa1 T C 5: 77,454,179 (GRCm39) E487G possibly damaging Het
Nuak1 A T 10: 84,211,143 (GRCm39) V315D probably damaging Het
Nup205 A G 6: 35,207,505 (GRCm39) N1519S possibly damaging Het
Or10x1 T A 1: 174,196,966 (GRCm39) I161K probably damaging Het
Or1l4b T C 2: 37,036,266 (GRCm39) L14P probably damaging Het
Or1o1 T C 17: 37,716,589 (GRCm39) V50A probably benign Het
Or51f1e A G 7: 102,747,526 (GRCm39) I193V possibly damaging Het
Or6b13 G T 7: 139,782,340 (GRCm39) C114* probably null Het
Or9s18 G A 13: 65,300,493 (GRCm39) V152M possibly damaging Het
Peli1 T A 11: 21,098,528 (GRCm39) probably benign Het
Ppp6r1 A G 7: 4,646,206 (GRCm39) L175P probably damaging Het
Prkcd A G 14: 30,321,700 (GRCm39) L498P probably damaging Het
Prss30 T A 17: 24,191,769 (GRCm39) I251F probably benign Het
Psme3 A T 11: 101,207,907 (GRCm39) N21Y probably benign Het
Ptpra T C 2: 130,374,081 (GRCm39) Y271H probably damaging Het
Ralgapa1 T A 12: 55,745,588 (GRCm39) N1303Y probably damaging Het
Rims4 T C 2: 163,707,463 (GRCm39) I121V probably benign Het
Rnf123 A T 9: 107,933,290 (GRCm39) L1149Q probably damaging Het
Ryr3 T A 2: 112,738,807 (GRCm39) L593F probably damaging Het
Sec23b T C 2: 144,427,519 (GRCm39) F582S probably damaging Het
Sgpl1 T C 10: 60,940,297 (GRCm39) K335R probably benign Het
Sirpa C T 2: 129,451,163 (GRCm39) T141I probably damaging Het
Slit1 G T 19: 41,637,983 (GRCm39) A270E probably benign Het
Snap91 T C 9: 86,674,613 (GRCm39) T533A possibly damaging Het
Sptan1 C A 2: 29,901,054 (GRCm39) R1407S probably damaging Het
Tfdp1 A G 8: 13,423,895 (GRCm39) T353A probably benign Het
Ttyh1 A G 7: 4,125,533 (GRCm39) I62V possibly damaging Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Zfp398 T C 6: 47,836,446 (GRCm39) I82T possibly damaging Het
Zp1 A G 19: 10,896,198 (GRCm39) Y176H possibly damaging 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
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'- CCATTGGAGTTGTCAAGGCAG -3'
(R):5'- CTGCTAAGTCATTCCCCAAGG -3'

Sequencing Primer
(F):5'- CAGATTGCTGCAATTTCAGTTG -3'
(R):5'- TCCCCAAGGAAATATATCTGAAAGG -3'
Posted On 2016-03-01