Incidental Mutation 'R1037:Sbno1'
ID 93861
Institutional Source Beutler Lab
Gene Symbol Sbno1
Ensembl Gene ENSMUSG00000038095
Gene Name strawberry notch 1
Synonyms 9330180L10Rik, sno
MMRRC Submission 039136-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1037 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 124506765-124564059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124531975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 736 (S736P)
Ref Sequence ENSEMBL: ENSMUSP00000142481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065263] [ENSMUST00000168651] [ENSMUST00000196329] [ENSMUST00000196644] [ENSMUST00000199808] [ENSMUST00000200474] [ENSMUST00000199004]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000065263
AA Change: S736P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: S736P

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: ENSMUST00000168651
AA Change: S735P

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: S735P

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 possibly damaging
Transcript: ENSMUST00000196644
AA Change: S736P

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142827
Gene: ENSMUSG00000038095
AA Change: S736P

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 possibly damaging
Transcript: ENSMUST00000199808
AA Change: S736P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: S736P

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: S700P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143516
Gene: ENSMUSG00000038095
AA Change: S700P

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 noncoding transcript
Transcript: ENSMUST00000197723
Predicted Effect probably benign
Transcript: ENSMUST00000199004
SMART Domains Protein: ENSMUSP00000143314
Gene: ENSMUSG00000038095

DomainStartEndE-ValueType
low complexity region 217 234 N/A INTRINSIC
Meta Mutation Damage Score 0.0728 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.1%
  • 10x: 94.3%
  • 20x: 85.9%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,436,144 (GRCm39) S139G probably benign Het
Abca2 T A 2: 25,328,240 (GRCm39) probably benign Het
Abcb1b A T 5: 8,875,657 (GRCm39) N610I probably benign Het
Ahnak T C 19: 8,984,982 (GRCm39) F2089L probably benign Het
Cacnb1 T C 11: 97,895,843 (GRCm39) probably benign Het
Cep57 T C 9: 13,730,275 (GRCm39) I61V possibly damaging Het
Ckap5 T C 2: 91,380,974 (GRCm39) I110T probably benign Het
Clasp2 T C 9: 113,725,702 (GRCm39) probably benign Het
Col11a1 A C 3: 113,987,801 (GRCm39) E265A probably damaging Het
Cst13 A G 2: 148,672,251 (GRCm39) probably benign Het
Cyp24a1 G A 2: 170,333,537 (GRCm39) T272M probably damaging Het
Cyp4a14 A C 4: 115,347,193 (GRCm39) L415R probably damaging Het
Dbnl T C 11: 5,746,807 (GRCm39) F179S probably damaging Het
Eepd1 T C 9: 25,498,079 (GRCm39) L388P possibly damaging Het
Exosc8 G T 3: 54,640,159 (GRCm39) A55E probably damaging Het
Fam72a G A 1: 131,461,557 (GRCm39) V81I probably damaging Het
Fasn C T 11: 120,700,277 (GRCm39) M2182I probably benign Het
Fras1 C T 5: 96,862,322 (GRCm39) P2234S probably damaging Het
Grn C A 11: 102,323,896 (GRCm39) D33E possibly damaging Het
Gsap A G 5: 21,456,163 (GRCm39) probably benign Het
H2bc15 T A 13: 21,938,417 (GRCm39) V42E probably damaging Het
Hook3 T C 8: 26,562,378 (GRCm39) Q229R possibly damaging Het
Itgb6 T C 2: 60,480,412 (GRCm39) E308G probably damaging Het
Kmo C T 1: 175,479,184 (GRCm39) P240L possibly damaging Het
Lrrc4c A G 2: 97,460,330 (GRCm39) M319V probably benign Het
Mia3 T C 1: 183,138,698 (GRCm39) I672M probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mlc1 A G 15: 88,849,664 (GRCm39) L223P probably damaging Het
Mmp21 T C 7: 133,276,182 (GRCm39) K554E probably benign Het
Nup160 C T 2: 90,524,246 (GRCm39) T383I probably damaging Het
Opcml T A 9: 28,814,595 (GRCm39) D290E probably damaging Het
Or10a3b T A 7: 108,445,191 (GRCm39) T9S probably benign Het
Or4a27 T A 2: 88,559,376 (GRCm39) D189V probably damaging Het
Or5ac19 C T 16: 59,089,307 (GRCm39) C241Y probably damaging Het
Or5d38 A G 2: 87,954,573 (GRCm39) I252T probably damaging Het
Or5k14 T C 16: 58,693,333 (GRCm39) Y60C probably damaging Het
Palm3 C A 8: 84,755,901 (GRCm39) T471K probably benign Het
Prl2c5 T A 13: 13,360,492 (GRCm39) L50* probably null Het
Pzp T C 6: 128,496,389 (GRCm39) N281S probably benign Het
Qser1 T C 2: 104,590,900 (GRCm39) Y1722C probably damaging Het
Ryr3 A G 2: 112,699,453 (GRCm39) V879A probably benign Het
Septin5 G A 16: 18,441,844 (GRCm39) probably benign Het
Slc17a6 A G 7: 51,298,996 (GRCm39) probably benign Het
Spag17 A T 3: 100,010,433 (GRCm39) T1976S probably benign Het
Swt1 A T 1: 151,246,320 (GRCm39) probably benign Het
Tenm4 T C 7: 96,446,688 (GRCm39) W853R probably damaging Het
Thbs1 A T 2: 117,953,532 (GRCm39) Q983L probably damaging Het
Tmem191 A G 16: 17,094,347 (GRCm39) probably benign Het
Tmprss11g A T 5: 86,638,606 (GRCm39) V294D probably damaging Het
Tor1aip2 A G 1: 155,941,082 (GRCm39) S463G probably benign Het
Trim36 A G 18: 46,329,385 (GRCm39) probably benign Het
Ttc1 A G 11: 43,621,326 (GRCm39) V285A possibly damaging Het
Uckl1 C T 2: 181,214,278 (GRCm39) R303H possibly damaging Het
Vwa8 C A 14: 79,324,094 (GRCm39) C1132* 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
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
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'- CCTACTAACATGGCAAGGCGTCAG -3'
(R):5'- GCACTTCTCACTAGATTCAGCTCACAA -3'

Sequencing Primer
(F):5'- GGCGTCAGTGAAATAACTCACC -3'
(R):5'- aaacacacacacacacacac -3'
Posted On 2014-01-05