Incidental Mutation 'R9045:Sbno1'
ID 687977
Institutional Source Beutler Lab
Gene Symbol Sbno1
Ensembl Gene ENSMUSG00000038095
Gene Name strawberry notch 1
Synonyms 9330180L10Rik, sno
MMRRC Submission 068872-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9045 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 124506765-124564059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124543720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 273 (V273A)
Ref Sequence ENSEMBL: ENSMUSP00000142481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065263] [ENSMUST00000168651] [ENSMUST00000196329] [ENSMUST00000196644] [ENSMUST00000196711] [ENSMUST00000197777] [ENSMUST00000198420] [ENSMUST00000199808] [ENSMUST00000199004] [ENSMUST00000200474]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000065263
AA Change: V273A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: V273A

DomainStartEndE-ValueType
low complexity region 217 234 N/A INTRINSIC
Pfam:AAA_34 254 559 3.6e-144 PFAM
Pfam:ResIII 287 478 2.7e-8 PFAM
low complexity region 633 649 N/A INTRINSIC
low complexity region 727 748 N/A INTRINSIC
low complexity region 779 797 N/A INTRINSIC
low complexity region 815 838 N/A INTRINSIC
coiled coil region 839 868 N/A INTRINSIC
Pfam:Helicase_C_4 870 1146 3.6e-126 PFAM
low complexity region 1365 1384 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168651
AA Change: V272A

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: V272A

DomainStartEndE-ValueType
low complexity region 217 234 N/A INTRINSIC
Pfam:AAA_34 254 559 3.6e-144 PFAM
Pfam:ResIII 287 478 2.7e-8 PFAM
low complexity region 633 649 N/A INTRINSIC
low complexity region 727 748 N/A INTRINSIC
low complexity region 779 797 N/A INTRINSIC
low complexity region 815 838 N/A INTRINSIC
coiled coil region 839 868 N/A INTRINSIC
Pfam:Helicase_C_4 870 1146 3.6e-126 PFAM
low complexity region 1365 1384 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000196329
AA Change: V238A

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143084
Gene: ENSMUSG00000038095
AA Change: V238A

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
low complexity region 182 199 N/A INTRINSIC
Pfam:AAA_34 217 525 1.4e-139 PFAM
Pfam:ResIII 254 441 2.4e-8 PFAM
low complexity region 598 614 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196644
AA Change: V273A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142827
Gene: ENSMUSG00000038095
AA Change: V273A

DomainStartEndE-ValueType
low complexity region 217 234 N/A INTRINSIC
Pfam:AAA_34 252 560 4.3e-136 PFAM
Pfam:ResIII 289 476 1.8e-6 PFAM
low complexity region 633 649 N/A INTRINSIC
low complexity region 727 748 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196711
SMART Domains Protein: ENSMUSP00000142980
Gene: ENSMUSG00000038095

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
low complexity region 182 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197777
Predicted Effect probably benign
Transcript: ENSMUST00000198420
SMART Domains Protein: ENSMUSP00000142416
Gene: ENSMUSG00000038095

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199808
AA Change: V273A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: V273A

DomainStartEndE-ValueType
low complexity region 217 234 N/A INTRINSIC
Pfam:AAA_34 252 560 6e-139 PFAM
Pfam:ResIII 289 476 1.3e-7 PFAM
low complexity region 633 649 N/A INTRINSIC
low complexity region 727 748 N/A INTRINSIC
low complexity region 779 797 N/A INTRINSIC
low complexity region 815 838 N/A INTRINSIC
coiled coil region 839 868 N/A INTRINSIC
Pfam:Helicase_C_4 870 1146 4.6e-120 PFAM
low complexity region 1365 1384 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199004
SMART Domains Protein: ENSMUSP00000143314
Gene: ENSMUSG00000038095

DomainStartEndE-ValueType
low complexity region 217 234 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200474
AA Change: V237A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000143516
Gene: ENSMUSG00000038095
AA Change: V237A

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
low complexity region 181 198 N/A INTRINSIC
Pfam:AAA_34 218 523 2.3e-141 PFAM
Pfam:ResIII 251 442 3.3e-7 PFAM
low complexity region 597 613 N/A INTRINSIC
low complexity region 691 712 N/A INTRINSIC
low complexity region 743 755 N/A INTRINSIC
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.6%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik A C 8: 33,919,362 (GRCm39) M61L Het
9130401M01Rik G T 15: 57,892,130 (GRCm39) A223E possibly damaging Het
Adgra1 T G 7: 139,432,566 (GRCm39) L135V possibly damaging Het
Aida A G 1: 183,094,940 (GRCm39) E127G possibly damaging Het
Ankrd31 T A 13: 96,968,034 (GRCm39) L557* probably null Het
Atxn7l3 T A 11: 102,183,272 (GRCm39) T221S probably damaging Het
Bbs7 A G 3: 36,666,184 (GRCm39) S27P probably benign Het
Cela3b A T 4: 137,152,110 (GRCm39) C116S possibly damaging Het
Clstn3 A C 6: 124,408,921 (GRCm39) M909R probably damaging Het
Cnot2 T C 10: 116,322,160 (GRCm39) E523G probably benign Het
Col12a1 T A 9: 79,582,034 (GRCm39) T1406S probably benign Het
Cr2 A T 1: 194,837,680 (GRCm39) N763K possibly damaging Het
Csmd1 A G 8: 16,284,088 (GRCm39) F557L probably damaging Het
Cyth1 T C 11: 118,073,090 (GRCm39) H270R possibly damaging Het
Epg5 T C 18: 77,992,014 (GRCm39) L237P probably damaging Het
Fbxo36 G A 1: 84,874,300 (GRCm39) D99N probably damaging Het
Fcgbpl1 T A 7: 27,853,856 (GRCm39) C1607S probably damaging Het
Flot2 A G 11: 77,950,023 (GRCm39) I417M probably benign Het
Fryl A G 5: 73,182,118 (GRCm39) L143P Het
Gckr A G 5: 31,457,353 (GRCm39) N122S possibly damaging Het
Gm3250 T A 10: 77,617,932 (GRCm39) T149S unknown Het
Golga3 G A 5: 110,340,963 (GRCm39) M552I probably benign Het
Grip1 T A 10: 119,871,356 (GRCm39) D694E probably damaging Het
Heatr1 T C 13: 12,428,233 (GRCm39) V790A probably benign Het
Ighv1-54 G A 12: 115,157,500 (GRCm39) T49I probably benign Het
Iglv1 A G 16: 18,904,053 (GRCm39) V22A probably benign Het
Lama1 A T 17: 68,060,838 (GRCm39) Y722F Het
Laptm5 A T 4: 130,655,955 (GRCm39) E91V Het
Lrig1 A G 6: 94,585,688 (GRCm39) probably null Het
Mcph1 T G 8: 18,682,443 (GRCm39) S527A probably benign Het
Med13l G T 5: 118,880,816 (GRCm39) V1303L probably benign Het
Mindy4 A G 6: 55,295,283 (GRCm39) D741G probably benign Het
Myo15b T A 11: 115,783,178 (GRCm39) *3034R probably null Het
Nfkbie A T 17: 45,872,959 (GRCm39) K354I probably damaging Het
Npat A G 9: 53,474,776 (GRCm39) N856S possibly damaging Het
Nr2c2ap A G 8: 70,585,808 (GRCm39) D122G probably damaging Het
Nr4a3 C A 4: 48,067,694 (GRCm39) T430K possibly damaging Het
Or12e10 C A 2: 87,640,416 (GRCm39) S84Y probably damaging Het
Or52ab4 T G 7: 102,987,903 (GRCm39) I214R probably damaging Het
Or5h25 A G 16: 58,930,365 (GRCm39) S203P probably benign Het
Otud7b A G 3: 96,059,895 (GRCm39) K397E probably benign Het
Pafah1b3 G T 7: 24,996,898 (GRCm39) probably benign Het
Pcdhgc3 G T 18: 37,940,669 (GRCm39) V357L probably damaging Het
Pde2a A G 7: 101,152,498 (GRCm39) T354A unknown Het
Pira12 A G 7: 3,897,547 (GRCm39) I516T possibly damaging Het
Rbfa T C 18: 80,236,026 (GRCm39) H241R probably damaging Het
Rhox3c C T X: 36,651,303 (GRCm39) probably benign Het
Rps6ka1 C T 4: 133,600,150 (GRCm39) probably benign Het
S1pr2 T C 9: 20,878,890 (GRCm39) T313A probably benign Het
Scg3 T C 9: 75,570,522 (GRCm39) N344S probably damaging Het
Serpinb1c C G 13: 33,066,027 (GRCm39) G306A probably benign Het
Sh2d6 C T 6: 72,492,604 (GRCm39) G206D probably benign Het
Slamf9 G A 1: 172,304,938 (GRCm39) S184N probably damaging Het
Slc50a1 T C 3: 89,176,042 (GRCm39) T168A probably damaging Het
Tas2r124 G C 6: 132,732,034 (GRCm39) W114C probably damaging Het
Tgm4 C T 9: 122,877,616 (GRCm39) T206I possibly damaging Het
Tmem52 A G 4: 155,553,899 (GRCm39) probably null Het
Vmn2r102 A G 17: 19,880,841 (GRCm39) K61E probably benign Het
Vmn2r58 T C 7: 41,487,087 (GRCm39) I603V probably benign Het
Vstm2l G T 2: 157,756,795 (GRCm39) G22V unknown Het
Vwa5b1 T A 4: 138,315,990 (GRCm39) Y584F probably damaging Het
Wdfy3 A T 5: 101,995,040 (GRCm39) V3233D probably damaging Het
Wdhd1 A G 14: 47,511,409 (GRCm39) V101A probably benign Het
Zfc3h1 C A 10: 115,263,319 (GRCm39) Q1761K possibly damaging Het
Zfp180 G A 7: 23,804,315 (GRCm39) V245I probably benign Het
Zfp846 A T 9: 20,505,189 (GRCm39) I350L probably benign Het
Other mutations in Sbno1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Sbno1 APN 5 124,540,268 (GRCm39) missense probably damaging 1.00
IGL01154:Sbno1 APN 5 124,548,312 (GRCm39) missense probably damaging 1.00
IGL01309:Sbno1 APN 5 124,519,769 (GRCm39) missense probably benign 0.41
IGL01330:Sbno1 APN 5 124,530,042 (GRCm39) missense probably damaging 1.00
IGL01541:Sbno1 APN 5 124,516,618 (GRCm39) splice site probably benign
IGL01800:Sbno1 APN 5 124,519,568 (GRCm39) splice site probably benign
IGL01987:Sbno1 APN 5 124,542,282 (GRCm39) missense probably damaging 1.00
IGL02178:Sbno1 APN 5 124,538,258 (GRCm39) splice site probably null
IGL02544:Sbno1 APN 5 124,542,046 (GRCm39) missense probably damaging 0.99
IGL02572:Sbno1 APN 5 124,519,740 (GRCm39) splice site probably benign
IGL02592:Sbno1 APN 5 124,538,872 (GRCm39) missense probably damaging 1.00
IGL03033:Sbno1 APN 5 124,514,213 (GRCm39) missense probably damaging 0.97
IGL03089:Sbno1 APN 5 124,525,374 (GRCm39) splice site probably benign
IGL03131:Sbno1 APN 5 124,526,668 (GRCm39) missense probably damaging 1.00
Decrement UTSW 5 124,538,910 (GRCm39) missense probably damaging 1.00
R0200:Sbno1 UTSW 5 124,522,604 (GRCm39) missense probably damaging 1.00
R0217:Sbno1 UTSW 5 124,542,387 (GRCm39) critical splice acceptor site probably null
R0233:Sbno1 UTSW 5 124,514,289 (GRCm39) missense probably damaging 1.00
R0233:Sbno1 UTSW 5 124,514,289 (GRCm39) missense probably damaging 1.00
R0334:Sbno1 UTSW 5 124,524,931 (GRCm39) missense possibly damaging 0.79
R0401:Sbno1 UTSW 5 124,548,348 (GRCm39) missense probably damaging 0.96
R0608:Sbno1 UTSW 5 124,522,604 (GRCm39) missense probably damaging 1.00
R0615:Sbno1 UTSW 5 124,548,202 (GRCm39) missense probably damaging 1.00
R0653:Sbno1 UTSW 5 124,524,955 (GRCm39) missense possibly damaging 0.79
R0655:Sbno1 UTSW 5 124,514,212 (GRCm39) missense possibly damaging 0.95
R1037:Sbno1 UTSW 5 124,531,975 (GRCm39) missense possibly damaging 0.92
R1439:Sbno1 UTSW 5 124,522,523 (GRCm39) splice site probably benign
R1522:Sbno1 UTSW 5 124,530,675 (GRCm39) missense probably damaging 1.00
R1590:Sbno1 UTSW 5 124,522,567 (GRCm39) missense possibly damaging 0.55
R1618:Sbno1 UTSW 5 124,542,279 (GRCm39) missense probably damaging 1.00
R1671:Sbno1 UTSW 5 124,530,130 (GRCm39) splice site probably null
R1779:Sbno1 UTSW 5 124,526,580 (GRCm39) unclassified probably benign
R2103:Sbno1 UTSW 5 124,532,000 (GRCm39) missense probably damaging 0.98
R2136:Sbno1 UTSW 5 124,525,597 (GRCm39) splice site probably null
R2149:Sbno1 UTSW 5 124,540,182 (GRCm39) splice site probably null
R2153:Sbno1 UTSW 5 124,516,606 (GRCm39) missense probably benign
R2154:Sbno1 UTSW 5 124,516,574 (GRCm39) missense probably benign
R2231:Sbno1 UTSW 5 124,543,767 (GRCm39) missense probably damaging 1.00
R2879:Sbno1 UTSW 5 124,526,635 (GRCm39) missense probably damaging 1.00
R3004:Sbno1 UTSW 5 124,519,771 (GRCm39) missense probably damaging 0.96
R3922:Sbno1 UTSW 5 124,519,993 (GRCm39) missense probably damaging 1.00
R4061:Sbno1 UTSW 5 124,526,635 (GRCm39) missense probably damaging 1.00
R4096:Sbno1 UTSW 5 124,529,983 (GRCm39) critical splice donor site probably null
R4612:Sbno1 UTSW 5 124,542,087 (GRCm39) missense probably damaging 1.00
R4879:Sbno1 UTSW 5 124,542,087 (GRCm39) missense probably damaging 1.00
R4937:Sbno1 UTSW 5 124,512,672 (GRCm39) missense possibly damaging 0.93
R4990:Sbno1 UTSW 5 124,538,228 (GRCm39) missense probably damaging 1.00
R5341:Sbno1 UTSW 5 124,546,538 (GRCm39) critical splice donor site probably null
R5365:Sbno1 UTSW 5 124,519,929 (GRCm39) frame shift probably null
R5399:Sbno1 UTSW 5 124,530,804 (GRCm39) missense probably benign 0.09
R5704:Sbno1 UTSW 5 124,533,956 (GRCm39) critical splice donor site probably null
R5898:Sbno1 UTSW 5 124,524,854 (GRCm39) intron probably benign
R6136:Sbno1 UTSW 5 124,516,554 (GRCm39) missense probably benign 0.41
R6154:Sbno1 UTSW 5 124,516,542 (GRCm39) missense possibly damaging 0.94
R6412:Sbno1 UTSW 5 124,530,777 (GRCm39) missense probably damaging 0.99
R6414:Sbno1 UTSW 5 124,533,994 (GRCm39) missense probably benign 0.28
R6454:Sbno1 UTSW 5 124,538,910 (GRCm39) missense probably damaging 1.00
R7085:Sbno1 UTSW 5 124,519,783 (GRCm39) missense possibly damaging 0.83
R7176:Sbno1 UTSW 5 124,530,944 (GRCm39) missense probably benign 0.21
R7219:Sbno1 UTSW 5 124,543,722 (GRCm39) missense probably benign 0.00
R7535:Sbno1 UTSW 5 124,551,342 (GRCm39) missense possibly damaging 0.48
R7673:Sbno1 UTSW 5 124,551,279 (GRCm39) missense probably benign
R7692:Sbno1 UTSW 5 124,543,709 (GRCm39) missense probably benign 0.35
R7745:Sbno1 UTSW 5 124,530,962 (GRCm39) missense probably benign 0.00
R7762:Sbno1 UTSW 5 124,512,729 (GRCm39) missense probably benign 0.19
R8012:Sbno1 UTSW 5 124,522,565 (GRCm39) missense probably benign 0.43
R8142:Sbno1 UTSW 5 124,546,608 (GRCm39) missense probably benign
R8164:Sbno1 UTSW 5 124,512,684 (GRCm39) missense probably benign 0.13
R8259:Sbno1 UTSW 5 124,519,759 (GRCm39) missense probably damaging 0.99
R8289:Sbno1 UTSW 5 124,542,068 (GRCm39) missense probably damaging 1.00
R8717:Sbno1 UTSW 5 124,512,618 (GRCm39) missense possibly damaging 0.85
R9149:Sbno1 UTSW 5 124,519,762 (GRCm39) missense probably benign 0.01
R9529:Sbno1 UTSW 5 124,517,413 (GRCm39) nonsense probably null
Z1088:Sbno1 UTSW 5 124,542,367 (GRCm39) missense probably damaging 0.98
Z1088:Sbno1 UTSW 5 124,532,021 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ATAGCTGGTGCACCTTCTCTTT -3'
(R):5'- AGCTGGAAGTGAGTAGTTAGTGTTTA -3'

Sequencing Primer
(F):5'- AATAACTCTCGCCTGAGGTG -3'
(R):5'- GTACTATCTTGTAATAAGCCTGG -3'
Posted On 2021-11-19