Incidental Mutation 'R4425:Shkbp1'
ID 328103
Institutional Source Beutler Lab
Gene Symbol Shkbp1
Ensembl Gene ENSMUSG00000089832
Gene Name Sh3kbp1 binding protein 1
Synonyms SB1, B930062H15Rik
MMRRC Submission 041144-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4425 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 27041558-27055444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27042727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 570 (N570S)
Ref Sequence ENSEMBL: ENSMUSP00000003857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003857]
AlphaFold Q6P7W2
Predicted Effect probably benign
Transcript: ENSMUST00000003857
AA Change: N570S

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: N570S

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 noncoding transcript
Transcript: ENSMUST00000123190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152053
Meta Mutation Damage Score 0.0928 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,236,870 (GRCm39) T1456A probably damaging Het
Acad11 T C 9: 103,950,844 (GRCm39) F56S probably damaging Het
Adamts8 A G 9: 30,867,952 (GRCm39) N592S possibly damaging Het
Amh A G 10: 80,642,755 (GRCm39) D313G probably damaging Het
Ampd2 T C 3: 107,994,052 (GRCm39) probably benign Het
Arap3 A G 18: 38,111,653 (GRCm39) L1115P probably damaging Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cd163 T C 6: 124,304,862 (GRCm39) S1080P possibly damaging Het
Ceacam10 A T 7: 24,480,433 (GRCm39) Y68F possibly damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Cfh A T 1: 140,028,613 (GRCm39) Y688* probably null Het
Chrnb1 A T 11: 69,677,773 (GRCm39) S326R probably damaging Het
Cngb1 C T 8: 96,026,344 (GRCm39) V25M probably damaging Het
Cyp2c50 A T 19: 40,079,136 (GRCm39) N160Y possibly damaging Het
Dalrd3 T C 9: 108,448,800 (GRCm39) probably benign Het
Eef1d C A 15: 75,774,648 (GRCm39) S253I possibly damaging Het
Efl1 G A 7: 82,412,491 (GRCm39) C960Y probably damaging Het
Elmo1 C G 13: 20,784,382 (GRCm39) Y646* probably null Het
Epb41l2 C A 10: 25,382,078 (GRCm39) D701E possibly damaging Het
Fbxl4 T A 4: 22,422,699 (GRCm39) probably null Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Igkv10-95 A T 6: 68,657,606 (GRCm39) I21F probably damaging Het
Il10rb C A 16: 91,204,603 (GRCm39) N51K possibly damaging Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lrig3 T C 10: 125,849,273 (GRCm39) S998P probably benign Het
Lrrc8c T A 5: 105,755,755 (GRCm39) M510K probably benign Het
Nfrkb G T 9: 31,311,258 (GRCm39) C369F probably damaging Het
Nphp1 T C 2: 127,630,719 (GRCm39) E19G possibly damaging Het
Or10a5 A C 7: 106,635,698 (GRCm39) E112A probably damaging Het
Or4f14b T C 2: 111,775,534 (GRCm39) H89R probably benign Het
Ovol3 A T 7: 29,934,789 (GRCm39) probably null Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Rims2 T C 15: 39,301,320 (GRCm39) probably null Het
Sh3rf3 T C 10: 58,919,398 (GRCm39) V505A probably benign Het
Slc35f4 C T 14: 49,556,307 (GRCm39) V149I possibly damaging Het
Snx27 A G 3: 94,469,330 (GRCm39) F4L probably benign Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tagap1 G A 17: 7,223,511 (GRCm39) S395L probably benign Het
Tcstv2b C A 13: 120,373,908 (GRCm39) L127F probably damaging Het
Tek A G 4: 94,751,904 (GRCm39) T1014A probably damaging Het
Top2a A G 11: 98,892,231 (GRCm39) I1077T probably benign Het
Tpo T C 12: 30,154,015 (GRCm39) Y230C probably damaging Het
Trav12-2 A G 14: 53,854,332 (GRCm39) Q102R possibly damaging Het
Ttn G A 2: 76,733,430 (GRCm39) probably benign Het
Vmn1r183 A T 7: 23,754,973 (GRCm39) I259F probably benign Het
Vmn1r228 T C 17: 20,996,861 (GRCm39) E219G probably damaging Het
Vsig8 G T 1: 172,390,714 (GRCm39) G254V probably damaging Het
Vwa8 A G 14: 79,320,246 (GRCm39) I1086V probably benign Het
Zfp423 G A 8: 88,509,601 (GRCm39) H123Y probably damaging Het
Zfp811 A T 17: 33,016,521 (GRCm39) C506* probably null 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
IGL02149:Shkbp1 APN 7 27,042,064 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ATGAACTGGGGTCAGAGGCTAC -3'
(R):5'- AGTGGTGGAGACTGACTCAG -3'

Sequencing Primer
(F):5'- ACCATCTGTAATAGGATCTGATGCCC -3'
(R):5'- CTGACTCAGGAAGGGTGTAAG -3'
Posted On 2015-07-07