Incidental Mutation 'R1760:Sphkap'
ID 192646
Institutional Source Beutler Lab
Gene Symbol Sphkap
Ensembl Gene ENSMUSG00000026163
Gene Name SPHK1 interactor, AKAP domain containing
Synonyms SKIP, A930009L15Rik, 4930544G21Rik
MMRRC Submission 039792-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R1760 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 83233163-83385853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83255265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 828 (H828R)
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: H541R

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: H541R

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: H828R

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: H828R

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 0.1017 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency 97% (95/98)
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,333,055 (GRCm39) S1585P probably benign Het
Abhd16b T C 2: 181,135,197 (GRCm39) F33S probably damaging Het
Adgra2 G A 8: 27,609,795 (GRCm39) R856Q probably damaging Het
Aff3 A T 1: 38,368,945 (GRCm39) probably benign Het
Anxa2 A T 9: 69,397,049 (GRCm39) Y251F probably benign Het
Arid1b A G 17: 5,392,088 (GRCm39) T1873A probably damaging Het
Baz1b C A 5: 135,271,378 (GRCm39) D1320E probably benign Het
Bbs1 A T 19: 4,944,350 (GRCm39) S426R probably benign Het
Bid A G 6: 120,877,209 (GRCm39) V44A possibly damaging Het
Ccdc60 T A 5: 116,310,532 (GRCm39) M177L probably damaging Het
Cdh23 G A 10: 60,161,855 (GRCm39) T1997M probably damaging Het
Cdh5 T A 8: 104,854,801 (GRCm39) M243K probably benign Het
Clpb T A 7: 101,435,905 (GRCm39) V578E possibly damaging Het
Cngb1 C A 8: 96,026,328 (GRCm39) C151F probably benign Het
Cntnap5b T C 1: 99,700,535 (GRCm39) S16P probably benign Het
Cr1l T A 1: 194,797,123 (GRCm39) M305L probably benign Het
Ctnnal1 A T 4: 56,838,988 (GRCm39) M235K probably damaging Het
Ddx55 A T 5: 124,706,176 (GRCm39) R534W probably damaging Het
Dip2b T A 15: 100,109,910 (GRCm39) L1465Q probably damaging Het
Dnah9 G T 11: 65,872,048 (GRCm39) D2727E probably benign Het
Dph3b-ps A C 13: 106,683,497 (GRCm39) noncoding transcript Het
Dst T A 1: 34,267,684 (GRCm39) L2702Q probably damaging Het
Efnb2 T C 8: 8,673,184 (GRCm39) T158A possibly damaging Het
Exosc10 A T 4: 148,662,926 (GRCm39) K712* probably null Het
Fgr T C 4: 132,725,653 (GRCm39) V354A possibly damaging Het
Fsip2 A G 2: 82,830,185 (GRCm39) D6893G possibly damaging Het
Fsip2 G A 2: 82,815,240 (GRCm39) V3658M probably benign Het
Fsip2 A T 2: 82,818,055 (GRCm39) H4596L possibly damaging Het
Gm1527 G A 3: 28,949,699 (GRCm39) probably benign Het
Gm5150 G T 3: 16,060,468 (GRCm39) Q7K probably benign Het
Gpr155 C T 2: 73,212,279 (GRCm39) V115M probably damaging Het
Gpr75 T C 11: 30,841,527 (GRCm39) L144P probably damaging Het
Gsn T A 2: 35,174,835 (GRCm39) Y127N probably damaging Het
Hk1 A G 10: 62,117,678 (GRCm39) L615S probably damaging Het
Igsf9b A G 9: 27,229,123 (GRCm39) T194A possibly damaging Het
Il17rd C T 14: 26,813,763 (GRCm39) Q46* probably null Het
Jak1 T A 4: 101,020,126 (GRCm39) M678L probably benign Het
Kif6 T C 17: 49,922,311 (GRCm39) V16A probably benign Het
Kpna3 T C 14: 61,607,990 (GRCm39) E405G probably benign Het
Lmtk2 C A 5: 144,110,993 (GRCm39) T571K probably damaging Het
Mucl2 T C 15: 103,927,838 (GRCm39) T40A possibly damaging Het
Myh11 G A 16: 14,051,559 (GRCm39) probably benign Het
Myh7 C T 14: 55,210,170 (GRCm39) R1845Q probably damaging Het
Myo1f T A 17: 33,805,172 (GRCm39) L480Q probably benign Het
Nek9 T G 12: 85,352,364 (GRCm39) D833A possibly damaging Het
Nek9 T C 12: 85,357,184 (GRCm39) E660G probably benign Het
Or10z1 C T 1: 174,077,926 (GRCm39) C189Y probably damaging Het
Or2a12 A G 6: 42,904,431 (GRCm39) I89V possibly damaging Het
Or2t45 A G 11: 58,669,195 (GRCm39) M81V possibly damaging Het
Or5h18 T C 16: 58,847,350 (GRCm39) R307G probably benign Het
Or6c65 T A 10: 129,603,417 (GRCm39) D17E probably benign Het
Or6f2 G A 7: 139,756,188 (GRCm39) V52M probably damaging Het
Or7s1a-ps1 T A 9: 18,843,791 (GRCm39) probably benign Het
Otud3 G T 4: 138,623,092 (GRCm39) T383K possibly damaging Het
Pkp4 T C 2: 59,142,185 (GRCm39) L496P probably damaging Het
Pla2g4e C A 2: 120,000,527 (GRCm39) A737S possibly damaging Het
Pla2g4f T C 2: 120,144,547 (GRCm39) probably benign Het
Plxnd1 A T 6: 115,944,740 (GRCm39) V1018E possibly damaging Het
Ppp1r21 T G 17: 88,869,653 (GRCm39) V402G possibly damaging Het
Prkcq T G 2: 11,304,881 (GRCm39) M690R probably damaging Het
Ptpra T C 2: 130,391,747 (GRCm39) I719T probably damaging Het
Rab3ip C T 10: 116,773,415 (GRCm39) D133N probably damaging Het
Relch T G 1: 105,647,169 (GRCm39) probably benign Het
Rsbn1 T A 3: 103,867,347 (GRCm39) Y563N probably damaging Het
Rtf1 A C 2: 119,558,889 (GRCm39) D530A probably benign Het
Rybp G T 6: 100,209,224 (GRCm39) S199R probably benign Het
Sema5a T G 15: 32,641,252 (GRCm39) C689G probably damaging Het
Senp6 T A 9: 80,025,911 (GRCm39) V314E probably benign Het
Setd1a T A 7: 127,385,062 (GRCm39) C47S possibly damaging Het
Slamf1 C A 1: 171,604,734 (GRCm39) T168K probably benign Het
Slc12a5 T C 2: 164,838,048 (GRCm39) S937P probably damaging Het
Slc38a11 C T 2: 65,185,663 (GRCm39) probably null Het
Slc6a2 C T 8: 93,687,846 (GRCm39) probably benign Het
Snw1 A T 12: 87,511,459 (GRCm39) F64Y probably benign Het
Spata9 A C 13: 76,146,643 (GRCm39) I172L probably benign Het
Spmip6 T A 4: 41,507,330 (GRCm39) probably null Het
Tmem94 A T 11: 115,687,580 (GRCm39) K1146N probably damaging Het
Trdn A G 10: 33,109,883 (GRCm39) T294A possibly damaging Het
Tsc22d1 T C 14: 76,654,388 (GRCm39) V289A possibly damaging Het
Tti1 C A 2: 157,834,955 (GRCm39) V1002L possibly damaging Het
Tubgcp4 T A 2: 121,019,952 (GRCm39) probably null Het
Ush2a G A 1: 188,643,180 (GRCm39) E4181K possibly damaging Het
Uvrag A G 7: 98,537,555 (GRCm39) S547P probably benign Het
Vav3 T C 3: 109,248,443 (GRCm39) V30A possibly damaging Het
Vegfa A G 17: 46,336,395 (GRCm39) Y242H probably damaging Het
Vmn2r75 G T 7: 85,798,019 (GRCm39) T598K probably damaging Het
Vps13b C T 15: 35,884,765 (GRCm39) S3146L possibly damaging Het
Vrk3 A G 7: 44,417,895 (GRCm39) Y310C probably damaging Het
Zfhx4 A G 3: 5,447,676 (GRCm39) K1100R probably benign Het
Zfp748 T A 13: 67,693,540 (GRCm39) probably null Het
Zfp760 A T 17: 21,941,311 (GRCm39) D162V probably damaging Het
Znfx1 T A 2: 166,881,786 (GRCm39) M1068L probably 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
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
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'- ATAGACCTCGGACTGCTTTGCCTC -3'
(R):5'- AGCCAGCCTCTTAGCAATGCAC -3'

Sequencing Primer
(F):5'- ACAGGTCATCACCTAATAAGGATAG -3'
(R):5'- ACTGGCCTTGTCATCAGGAATC -3'
Posted On 2014-05-23