Incidental Mutation 'R5704:Sbno1'
ID 451839
Institutional Source Beutler Lab
Gene Symbol Sbno1
Ensembl Gene ENSMUSG00000038095
Gene Name strawberry notch 1
Synonyms 9330180L10Rik, sno
MMRRC Submission 043329-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5704 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 124506765-124564059 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 124533956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065263] [ENSMUST00000168651] [ENSMUST00000196329] [ENSMUST00000196644] [ENSMUST00000199808] [ENSMUST00000200474] [ENSMUST00000199004]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000065263
SMART Domains Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095

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 null
Transcript: ENSMUST00000168651
SMART Domains Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095

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: ENSMUST00000196329
SMART Domains Protein: ENSMUSP00000143084
Gene: ENSMUSG00000038095

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 null
Transcript: ENSMUST00000196644
SMART Domains Protein: ENSMUSP00000142827
Gene: ENSMUSG00000038095

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 noncoding transcript
Transcript: ENSMUST00000196647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197723
Predicted Effect probably null
Transcript: ENSMUST00000199808
SMART Domains Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095

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 null
Transcript: ENSMUST00000200474
SMART Domains Protein: ENSMUSP00000143516
Gene: ENSMUSG00000038095

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 noncoding transcript
Transcript: ENSMUST00000198285
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: ENSMUST00000200674
Meta Mutation Damage Score 0.9586 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (85/87)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Acad10 A G 5: 121,769,606 (GRCm39) S617P probably benign Het
Ahi1 A C 10: 20,950,326 (GRCm39) M126L probably benign Het
Alk T C 17: 72,910,115 (GRCm39) E197G probably damaging Het
Alyref2 A T 1: 171,331,547 (GRCm39) Y108F probably damaging Het
Ankrd26 T G 6: 118,500,843 (GRCm39) H876P probably damaging Het
Arfgef1 T C 1: 10,229,808 (GRCm39) T1298A probably damaging Het
Arhgap33 T A 7: 30,219,045 (GRCm39) probably benign Het
Arhgef17 A G 7: 100,530,548 (GRCm39) S1413P probably damaging Het
Arid1a A T 4: 133,409,050 (GRCm39) V1819E unknown Het
Asprv1 A G 6: 86,605,532 (GRCm39) N126S probably damaging Het
Atg16l2 T C 7: 100,949,418 (GRCm39) Y43C probably damaging Het
Atp13a3 G T 16: 30,140,697 (GRCm39) T1160K probably benign Het
Atp1a3 T C 7: 24,696,736 (GRCm39) T272A probably damaging Het
Bpifa3 G T 2: 153,979,562 (GRCm39) probably null Het
Bri3 T C 5: 144,192,716 (GRCm39) V80A probably damaging Het
Ccdc28a T A 10: 18,106,320 (GRCm39) E2V probably damaging Het
Ccdc7a T A 8: 129,706,577 (GRCm39) probably benign Het
Cds2 G A 2: 132,135,249 (GRCm39) V47I probably benign Het
Cela2a G A 4: 141,553,299 (GRCm39) probably benign Het
Ckap5 A G 2: 91,406,548 (GRCm39) Y783C probably damaging Het
Cmtr1 G C 17: 29,882,217 (GRCm39) A23P possibly damaging Het
Crym C A 7: 119,801,163 (GRCm39) probably null Het
Def6 T G 17: 28,447,200 (GRCm39) D610E probably benign Het
Dnajc15 T C 14: 78,063,898 (GRCm39) Y130C probably damaging Het
Dock8 G A 19: 25,151,586 (GRCm39) V1560I probably damaging Het
Eif4g3 T C 4: 137,918,003 (GRCm39) V1501A probably damaging Het
Esyt1 A G 10: 128,347,379 (GRCm39) S1049P probably damaging Het
Gm4952 G T 19: 12,604,275 (GRCm39) R229L probably damaging Het
Golga5 T A 12: 102,455,707 (GRCm39) H548Q probably benign Het
Gspt1 A T 16: 11,046,057 (GRCm39) D449E possibly damaging Het
Gtf3c2 T A 5: 31,316,454 (GRCm39) D732V probably damaging Het
Hax1 T A 3: 89,903,403 (GRCm39) Q168L probably damaging Het
Hectd2 T A 19: 36,576,291 (GRCm39) S91T possibly damaging Het
Igfbp2 T A 1: 72,891,303 (GRCm39) H300Q probably benign Het
Il12rb2 T C 6: 67,269,197 (GRCm39) N538S possibly damaging Het
Insr G A 8: 3,235,122 (GRCm39) P124L possibly damaging Het
Irak3 C A 10: 119,981,594 (GRCm39) R437L probably benign Het
Jhy C T 9: 40,808,734 (GRCm39) V676I probably damaging Het
Kcns3 G A 12: 11,142,328 (GRCm39) R124C probably benign Het
Lactb G A 9: 66,863,058 (GRCm39) R519* probably null Het
Mdfic G A 6: 15,770,291 (GRCm39) G94D probably damaging Het
Mospd3 A G 5: 137,598,613 (GRCm39) V42A possibly damaging Het
Mov10 A G 3: 104,706,912 (GRCm39) V666A probably benign Het
Mucl1 T C 15: 103,785,663 (GRCm39) I15V probably benign Het
Mug1 T A 6: 121,828,392 (GRCm39) V268D possibly damaging Het
Myo5c T A 9: 75,180,185 (GRCm39) S709T probably benign Het
Nol11 T A 11: 107,064,195 (GRCm39) E519V probably benign Het
Nrp2 A T 1: 62,824,267 (GRCm39) I791L probably benign Het
Nudt19 A G 7: 35,250,972 (GRCm39) Y256H probably benign Het
Nudt8 C T 19: 4,050,777 (GRCm39) R42C probably damaging Het
Or5ac16 A G 16: 59,022,369 (GRCm39) L140P probably damaging Het
Or6c213 T A 10: 129,574,685 (GRCm39) I34F probably benign Het
Pcdhga12 A G 18: 37,900,422 (GRCm39) Y418C probably damaging Het
Pds5a A G 5: 65,784,422 (GRCm39) probably null Het
Pdzd2 T C 15: 12,385,761 (GRCm39) D1003G probably benign Het
Pglyrp4 T A 3: 90,647,581 (GRCm39) probably null Het
Phip T C 9: 82,753,408 (GRCm39) N1779D probably damaging Het
Postn G T 3: 54,279,527 (GRCm39) C335F probably damaging Het
Ppp4r3a T C 12: 101,049,619 (GRCm39) probably benign Het
Prrt2 C T 7: 126,618,590 (GRCm39) V292M probably damaging Het
Rpl18 T C 7: 45,370,146 (GRCm39) V138A possibly damaging Het
Rps14 G A 18: 60,910,205 (GRCm39) probably benign Het
Siah2 T G 3: 58,583,821 (GRCm39) K155T probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc25a39 T A 11: 102,294,220 (GRCm39) probably benign Het
Slco1a7 T C 6: 141,658,980 (GRCm39) M539V probably benign Het
Smok2b T A 17: 13,455,231 (GRCm39) C464S probably damaging Het
Spata31 G A 13: 65,069,855 (GRCm39) V668I probably benign Het
Tbxas1 C A 6: 38,998,067 (GRCm39) H212N probably benign Het
Tenm1 A G X: 42,163,572 (GRCm39) V107A possibly damaging Het
Thada C T 17: 84,538,329 (GRCm39) A1560T probably benign Het
Tmem241 G C 18: 12,197,263 (GRCm39) F65L probably damaging Het
Ttc16 C G 2: 32,659,137 (GRCm39) E321Q probably damaging Het
Ttn A T 2: 76,748,929 (GRCm39) L4040H possibly damaging Het
Tyw1 G A 5: 130,310,863 (GRCm39) W437* probably null Het
Unc79 T A 12: 102,968,202 (GRCm39) Y143N probably damaging Het
Urb2 C T 8: 124,764,921 (GRCm39) R1310W probably damaging Het
Vmn2r4 T C 3: 64,317,370 (GRCm39) I34V probably benign Het
Zfp513 C T 5: 31,358,010 (GRCm39) C121Y possibly damaging Het
Zfp606 T G 7: 12,227,456 (GRCm39) W468G probably damaging Het
Zfyve16 C T 13: 92,640,979 (GRCm39) probably null 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
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
R9045:Sbno1 UTSW 5 124,543,720 (GRCm39) missense probably benign 0.14
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'- CTTCCTAATCAGAGAAGGCAGG -3'
(R):5'- TCCACAGGTGCCACATGAAG -3'

Sequencing Primer
(F):5'- GGCAGGGACATCCAACAGTTAATTC -3'
(R):5'- TTGACAGCCCCAAGTAAC -3'
Posted On 2017-01-03