Incidental Mutation 'IGL02149:Shkbp1'
ID 281926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shkbp1
Ensembl Gene ENSMUSG00000089832
Gene Name Sh3kbp1 binding protein 1
Synonyms SB1, B930062H15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02149
Quality Score
Status
Chromosome 7
Chromosomal Location 27041558-27055444 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 27042064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003857] [ENSMUST00000038618] [ENSMUST00000108369]
AlphaFold Q6P7W2
Predicted Effect probably benign
Transcript: ENSMUST00000003857
SMART Domains Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832

DomainStartEndE-ValueType
BTB 19 119 1.65e-16 SMART
low complexity region 183 194 N/A INTRINSIC
Blast:WD40 196 271 1e-21 BLAST
WD40 277 313 1.9e2 SMART
WD40 419 457 3.45e-1 SMART
WD40 527 577 3.68e1 SMART
low complexity region 612 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038618
SMART Domains Protein: ENSMUSP00000037536
Gene: ENSMUSG00000040488

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 87 100 N/A INTRINSIC
low complexity region 112 125 N/A INTRINSIC
EGF 151 180 2.74e-3 SMART
low complexity region 244 265 N/A INTRINSIC
EGF_CA 356 396 3.51e-10 SMART
Pfam:TB 416 457 4.8e-15 PFAM
low complexity region 490 501 N/A INTRINSIC
low complexity region 507 568 N/A INTRINSIC
low complexity region 579 590 N/A INTRINSIC
EGF 591 629 6.06e-5 SMART
EGF_CA 630 671 8.3e-12 SMART
EGF_CA 672 713 7.34e-13 SMART
EGF_CA 714 751 8.43e-13 SMART
EGF_CA 753 794 1.66e-11 SMART
EGF_CA 795 836 3.61e-12 SMART
EGF_CA 837 876 5.61e-9 SMART
EGF_CA 877 919 1.73e-9 SMART
EGF_CA 920 961 7.12e-11 SMART
EGF_CA 962 1002 3.56e-11 SMART
EGF_CA 1003 1046 1.61e-9 SMART
EGF_CA 1047 1090 2.13e-9 SMART
EGF_CA 1091 1132 1.02e-11 SMART
EGF 1136 1175 1.69e1 SMART
low complexity region 1185 1223 N/A INTRINSIC
Pfam:TB 1234 1276 1.7e-13 PFAM
EGF_CA 1295 1337 2.72e-7 SMART
EGF_CA 1338 1379 1.36e-7 SMART
Pfam:TB 1402 1443 4.3e-14 PFAM
low complexity region 1449 1461 N/A INTRINSIC
low complexity region 1478 1500 N/A INTRINSIC
EGF 1578 1615 6.06e-5 SMART
EGF_CA 1616 1660 9.54e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108369
SMART Domains Protein: ENSMUSP00000104006
Gene: ENSMUSG00000040488

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 116 145 N/A INTRINSIC
EGF 150 179 2.74e-3 SMART
low complexity region 243 264 N/A INTRINSIC
EGF_CA 355 395 3.51e-10 SMART
Pfam:TB 414 456 2.5e-14 PFAM
low complexity region 489 500 N/A INTRINSIC
low complexity region 506 567 N/A INTRINSIC
low complexity region 578 589 N/A INTRINSIC
EGF 590 628 6.06e-5 SMART
EGF_CA 629 670 8.3e-12 SMART
EGF_CA 671 712 7.34e-13 SMART
EGF_CA 713 750 8.43e-13 SMART
EGF_CA 752 793 1.66e-11 SMART
EGF_CA 794 835 3.61e-12 SMART
EGF_CA 836 875 5.61e-9 SMART
EGF_CA 876 918 1.73e-9 SMART
EGF_CA 919 960 7.12e-11 SMART
EGF_CA 961 1001 3.56e-11 SMART
EGF_CA 1002 1045 1.61e-9 SMART
EGF_CA 1046 1089 2.13e-9 SMART
EGF_CA 1090 1131 1.02e-11 SMART
EGF 1135 1174 1.69e1 SMART
low complexity region 1184 1222 N/A INTRINSIC
Pfam:TB 1232 1275 2.4e-13 PFAM
EGF_CA 1294 1336 2.72e-7 SMART
EGF_CA 1337 1378 1.36e-7 SMART
Pfam:TB 1400 1442 7.6e-15 PFAM
low complexity region 1448 1460 N/A INTRINSIC
low complexity region 1477 1499 N/A INTRINSIC
EGF 1577 1614 6.06e-5 SMART
EGF_CA 1615 1659 9.54e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143239
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A T 9: 70,610,713 (GRCm39) H67L probably damaging Het
Adgrb1 C T 15: 74,412,326 (GRCm39) T435I probably damaging Het
Adgrd1 T A 5: 129,256,325 (GRCm39) F652Y probably damaging Het
Adgrl4 T A 3: 151,205,991 (GRCm39) F250Y possibly damaging Het
Aebp2 C T 6: 140,588,010 (GRCm39) A360V probably benign Het
AW551984 A C 9: 39,504,220 (GRCm39) M582R probably benign Het
B430306N03Rik T C 17: 48,624,020 (GRCm39) V107A probably benign Het
Cage1 T C 13: 38,206,505 (GRCm39) N447D probably damaging Het
Col17a1 T C 19: 47,657,071 (GRCm39) D524G probably benign Het
Dpp6 A T 5: 27,743,022 (GRCm39) I218F probably benign Het
Ep300 T G 15: 81,512,621 (GRCm39) probably benign Het
Ephb2 C T 4: 136,421,225 (GRCm39) C375Y probably damaging Het
Fastk A G 5: 24,649,051 (GRCm39) V112A probably damaging Het
Fbxo11 T A 17: 88,301,187 (GRCm39) R775S possibly damaging Het
Fbxw20 A G 9: 109,062,886 (GRCm39) probably null Het
Hamp2 G T 7: 30,622,122 (GRCm39) A50E probably damaging Het
Il22b C A 10: 118,130,902 (GRCm39) probably benign Het
Ints1 G A 5: 139,737,715 (GRCm39) R2139C probably damaging Het
Itgae T A 11: 72,994,720 (GRCm39) V24E probably benign Het
Jakmip3 G A 7: 138,609,075 (GRCm39) V60M possibly damaging Het
Kcnk10 A C 12: 98,485,099 (GRCm39) probably benign Het
Klra1 A T 6: 130,352,293 (GRCm39) C150S probably damaging Het
Lhx9 A T 1: 138,759,172 (GRCm39) V376E probably damaging Het
Mdm1 T A 10: 117,983,970 (GRCm39) F199I probably damaging Het
Nipal3 G T 4: 135,194,163 (GRCm39) T290K possibly damaging Het
Obsl1 C T 1: 75,480,464 (GRCm39) E387K probably damaging Het
Or8b43 A G 9: 38,360,693 (GRCm39) H175R probably damaging Het
Oxct1 A G 15: 4,120,711 (GRCm39) Y265C probably damaging Het
Pccb G A 9: 100,867,243 (GRCm39) H411Y probably damaging Het
Pkp1 A G 1: 135,814,485 (GRCm39) S279P probably benign Het
Prdm14 C A 1: 13,195,663 (GRCm39) G133C probably benign Het
Prkaa2 A T 4: 104,897,285 (GRCm39) N309K probably benign Het
Shc2 T C 10: 79,458,102 (GRCm39) D527G probably damaging Het
Skil T C 3: 31,151,856 (GRCm39) V126A possibly damaging Het
Slc25a36 A T 9: 96,975,122 (GRCm39) probably benign Het
Slc2a13 T C 15: 91,227,924 (GRCm39) T423A probably benign Het
Spty2d1 A G 7: 46,657,892 (GRCm39) probably benign Het
Stag1 A G 9: 100,769,442 (GRCm39) D519G probably benign Het
Tmprss2 G T 16: 97,400,479 (GRCm39) probably benign Het
Trim66 G T 7: 109,060,109 (GRCm39) T759K possibly damaging Het
Trpc4ap C A 2: 155,481,467 (GRCm39) A530S probably damaging Het
Ttn A T 2: 76,642,099 (GRCm39) D11625E probably damaging Het
Ube4b T C 4: 149,483,141 (GRCm39) I42M possibly damaging Het
Ubxn10 A G 4: 138,448,584 (GRCm39) S31P probably benign Het
Ubxn7 A G 16: 32,194,088 (GRCm39) Y220C probably damaging Het
Vmn1r234 A G 17: 21,449,269 (GRCm39) Y61C probably benign Het
Other mutations in Shkbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Shkbp1 APN 7 27,054,676 (GRCm39) missense probably benign 0.28
IGL01469:Shkbp1 APN 7 27,055,366 (GRCm39) missense probably benign
IGL01787:Shkbp1 APN 7 27,041,875 (GRCm39) missense possibly damaging 0.93
IGL02902:Shkbp1 APN 7 27,042,141 (GRCm39) missense probably damaging 0.97
R0086:Shkbp1 UTSW 7 27,051,451 (GRCm39) missense probably benign 0.00
R0219:Shkbp1 UTSW 7 27,051,486 (GRCm39) missense probably benign 0.01
R0485:Shkbp1 UTSW 7 27,048,006 (GRCm39) missense probably damaging 1.00
R1036:Shkbp1 UTSW 7 27,044,721 (GRCm39) missense possibly damaging 0.86
R1468:Shkbp1 UTSW 7 27,044,751 (GRCm39) missense probably damaging 1.00
R1468:Shkbp1 UTSW 7 27,044,751 (GRCm39) missense probably damaging 1.00
R1608:Shkbp1 UTSW 7 27,054,204 (GRCm39) missense probably benign 0.01
R1757:Shkbp1 UTSW 7 27,041,776 (GRCm39) missense probably benign
R1968:Shkbp1 UTSW 7 27,054,825 (GRCm39) critical splice donor site probably null
R2763:Shkbp1 UTSW 7 27,046,454 (GRCm39) missense probably benign 0.05
R3027:Shkbp1 UTSW 7 27,042,818 (GRCm39) missense probably benign 0.18
R3924:Shkbp1 UTSW 7 27,041,827 (GRCm39) missense probably benign
R4425:Shkbp1 UTSW 7 27,042,727 (GRCm39) missense probably benign 0.38
R5048:Shkbp1 UTSW 7 27,051,521 (GRCm39) unclassified probably benign
R5862:Shkbp1 UTSW 7 27,042,829 (GRCm39) nonsense probably null
R5955:Shkbp1 UTSW 7 27,041,949 (GRCm39) missense probably benign
R6016:Shkbp1 UTSW 7 27,053,826 (GRCm39) missense possibly damaging 0.92
R6226:Shkbp1 UTSW 7 27,051,405 (GRCm39) missense probably null 1.00
R6362:Shkbp1 UTSW 7 27,051,120 (GRCm39) critical splice donor site probably null
R6382:Shkbp1 UTSW 7 27,051,484 (GRCm39) nonsense probably null
R6460:Shkbp1 UTSW 7 27,049,963 (GRCm39) missense probably benign 0.01
R6647:Shkbp1 UTSW 7 27,041,800 (GRCm39) missense probably benign
R7025:Shkbp1 UTSW 7 27,054,706 (GRCm39) missense possibly damaging 0.47
R7255:Shkbp1 UTSW 7 27,042,173 (GRCm39) missense possibly damaging 0.93
R7522:Shkbp1 UTSW 7 27,046,583 (GRCm39) missense possibly damaging 0.88
R7571:Shkbp1 UTSW 7 27,046,556 (GRCm39) missense possibly damaging 0.90
R8207:Shkbp1 UTSW 7 27,052,109 (GRCm39) missense probably benign 0.01
R8770:Shkbp1 UTSW 7 27,051,311 (GRCm39) missense possibly damaging 0.65
R8996:Shkbp1 UTSW 7 27,042,844 (GRCm39) missense possibly damaging 0.88
R9361:Shkbp1 UTSW 7 27,051,492 (GRCm39) missense probably benign 0.00
R9758:Shkbp1 UTSW 7 27,046,442 (GRCm39) missense probably benign 0.22
Z1177:Shkbp1 UTSW 7 27,046,426 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16