Incidental Mutation 'R1618:Sbno1'
ID 174425
Institutional Source Beutler Lab
Gene Symbol Sbno1
Ensembl Gene ENSMUSG00000038095
Gene Name strawberry notch 1
Synonyms 9330180L10Rik, sno
MMRRC Submission 039655-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1618 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 124506765-124564059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124542279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 338 (Y338C)
Ref Sequence ENSEMBL: ENSMUSP00000142481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065263] [ENSMUST00000168651] [ENSMUST00000196329] [ENSMUST00000196644] [ENSMUST00000196711] [ENSMUST00000199004] [ENSMUST00000199808] [ENSMUST00000200474]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000065263
AA Change: Y338C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: Y338C

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 damaging
Transcript: ENSMUST00000168651
AA Change: Y337C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: Y337C

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 damaging
Transcript: ENSMUST00000196329
AA Change: Y303C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143084
Gene: ENSMUSG00000038095
AA Change: Y303C

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 damaging
Transcript: ENSMUST00000196644
AA Change: Y338C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142827
Gene: ENSMUSG00000038095
AA Change: Y338C

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: ENSMUST00000199004
SMART Domains Protein: ENSMUSP00000143314
Gene: ENSMUSG00000038095

DomainStartEndE-ValueType
low complexity region 217 234 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000199808
AA Change: Y338C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: Y338C

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 possibly damaging
Transcript: ENSMUST00000200474
AA Change: Y302C

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143516
Gene: ENSMUSG00000038095
AA Change: Y302C

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 unknown
Transcript: ENSMUST00000200674
AA Change: Y89C
Meta Mutation Damage Score 0.9562 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency 96% (79/82)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik T C 14: 105,736,380 (GRCm39) noncoding transcript Het
Abca8b A T 11: 109,840,714 (GRCm39) probably benign Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Anln A G 9: 22,262,214 (GRCm39) probably null Het
Anpep T G 7: 79,485,165 (GRCm39) Q607P probably benign Het
Arl13b A C 16: 62,633,640 (GRCm39) probably null Het
Asxl3 T C 18: 22,650,044 (GRCm39) S678P probably damaging Het
Atf6b C T 17: 34,866,702 (GRCm39) Q58* probably null Het
Camsap3 A G 8: 3,648,740 (GRCm39) T20A probably benign Het
Cfap46 T A 7: 139,232,726 (GRCm39) M782L probably benign Het
Cngb3 T C 4: 19,364,260 (GRCm39) S155P probably benign Het
Coro1a T C 7: 126,300,719 (GRCm39) I162V probably benign Het
Cry1 T A 10: 84,982,318 (GRCm39) I343F probably damaging Het
Csnk1e A T 15: 79,309,050 (GRCm39) M292K probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cul9 A T 17: 46,836,818 (GRCm39) M1069K probably benign Het
Cyp2c67 C A 19: 39,631,708 (GRCm39) probably benign Het
Dnah11 T C 12: 117,979,200 (GRCm39) I2633V probably damaging Het
Eif4g3 C A 4: 137,933,369 (GRCm39) D1731E probably damaging Het
Epb41l4b T C 4: 57,032,204 (GRCm39) T592A probably benign Het
Evi5 T C 5: 107,946,984 (GRCm39) probably benign Het
Exo1 T A 1: 175,728,952 (GRCm39) M672K probably benign Het
Fcho1 T C 8: 72,163,047 (GRCm39) S661G probably damaging Het
Fnip2 A G 3: 79,415,475 (GRCm39) Y188H possibly damaging Het
Foxb1 T C 9: 69,667,293 (GRCm39) D79G probably damaging Het
Fyco1 T C 9: 123,658,346 (GRCm39) Y610C probably damaging Het
Gm3095 T A 14: 15,170,441 (GRCm39) Y97N probably damaging Het
Gm3095 C A 14: 15,170,440 (GRCm39) N96K probably damaging Het
Gmfb A T 14: 47,049,237 (GRCm39) L128* probably null Het
Gprc5c T A 11: 114,755,220 (GRCm39) V299D possibly damaging Het
Hsfy2 C T 1: 56,676,388 (GRCm39) V50I probably benign Het
Hspa12b A C 2: 130,982,849 (GRCm39) K236Q probably benign Het
Impg2 A G 16: 56,080,221 (GRCm39) Y566C probably damaging Het
Itpr3 A C 17: 27,335,581 (GRCm39) probably null Het
Kprp G A 3: 92,732,783 (GRCm39) T89I probably damaging Het
Lcmt2 T C 2: 120,969,133 (GRCm39) E650G probably damaging Het
Lrch1 T C 14: 75,051,144 (GRCm39) D331G probably damaging Het
Mroh9 T A 1: 162,852,110 (GRCm39) I860F probably benign Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myt1l A G 12: 29,877,396 (GRCm39) D349G unknown Het
Ndufs2 T C 1: 171,073,690 (GRCm39) T31A probably benign Het
Ndufs3 A T 2: 90,729,016 (GRCm39) S157T probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Noct T A 3: 51,155,251 (GRCm39) S6R probably damaging Het
Npas2 T A 1: 39,339,808 (GRCm39) H119Q probably damaging Het
Oprl1 A T 2: 181,360,646 (GRCm39) Y207F probably benign Het
Or2n1e G A 17: 38,586,557 (GRCm39) probably null Het
Or4c11 A G 2: 88,695,871 (GRCm39) probably null Het
Or8k30 T G 2: 86,339,193 (GRCm39) L130R probably damaging Het
Palm3 G T 8: 84,756,291 (GRCm39) S601I possibly damaging Het
Plscr1 T A 9: 92,148,548 (GRCm39) C163S probably damaging Het
Ptprk A T 10: 28,369,166 (GRCm39) M713L probably benign Het
Rdm1 A G 11: 101,519,217 (GRCm39) D72G possibly damaging Het
Reln T C 5: 22,265,366 (GRCm39) D442G probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Seh1l T G 18: 67,921,806 (GRCm39) V222G probably damaging Het
Septin12 T C 16: 4,814,340 (GRCm39) K43R probably damaging Het
Slc25a18 A C 6: 120,763,303 (GRCm39) probably benign Het
Slc33a1 T C 3: 63,855,650 (GRCm39) T332A possibly damaging Het
Slc35d3 A G 10: 19,724,909 (GRCm39) S316P probably benign Het
Spmip7 A G 11: 11,438,641 (GRCm39) probably benign Het
Srrm2 T A 17: 24,037,906 (GRCm39) probably benign Het
Srsf12 C T 4: 33,230,974 (GRCm39) S156L probably damaging Het
Syce3 A G 15: 89,274,606 (GRCm39) M49T probably benign Het
Tjp3 T C 10: 81,112,094 (GRCm39) probably benign Het
Tnks G T 8: 35,342,430 (GRCm39) N373K probably damaging Het
Togaram1 A G 12: 65,013,847 (GRCm39) N366S possibly damaging Het
Trpm1 G A 7: 63,890,283 (GRCm39) R962H probably damaging Het
Trpm6 A T 19: 18,854,995 (GRCm39) M1885L possibly damaging Het
Tshz3 A G 7: 36,471,221 (GRCm39) D1070G probably damaging Het
Ush2a T C 1: 188,546,421 (GRCm39) M3399T probably benign Het
Utp15 G A 13: 98,393,695 (GRCm39) T196I probably benign Het
Vmn1r168 T C 7: 23,240,725 (GRCm39) I194T probably benign Het
Vmn2r73 C T 7: 85,525,120 (GRCm39) W9* probably null Het
Wdr17 T C 8: 55,092,930 (GRCm39) Y1076C probably damaging Het
Zan T C 5: 137,382,092 (GRCm39) T5152A unknown Het
Zbtb46 A T 2: 181,066,042 (GRCm39) V36E possibly damaging Het
Zfp558 T C 9: 18,380,579 (GRCm39) I9M possibly damaging Het
Zscan2 T A 7: 80,525,534 (GRCm39) Y418* 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
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
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'- TTGATTGATAGCCCCACTGAACAAGG -3'
(R):5'- GCTAACTGTCCCCATGATTTACGTACC -3'

Sequencing Primer
(F):5'- CCATACCTTATTTAACGAATGGACC -3'
(R):5'- TTACGTACCACATGGAAGTTGG -3'
Posted On 2014-04-24