Incidental Mutation 'R8259:Sbno1'
ID 640422
Institutional Source Beutler Lab
Gene Symbol Sbno1
Ensembl Gene ENSMUSG00000038095
Gene Name strawberry notch 1
Synonyms 9330180L10Rik, sno
MMRRC Submission 067650-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8259 (G1)
Quality Score 88.0076
Status Validated
Chromosome 5
Chromosomal Location 124506765-124564059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124519759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1173 (V1173E)
Ref Sequence ENSEMBL: ENSMUSP00000142481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065263] [ENSMUST00000168651] [ENSMUST00000199808]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000065263
AA Change: V1173E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: V1173E

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: V1172E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: V1172E

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: ENSMUST00000199808
AA Change: V1173E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: V1173E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (82/82)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,939,422 (GRCm39) H272L probably benign Het
Abcg5 T G 17: 84,983,523 (GRCm39) T144P possibly damaging Het
Adam34 G A 8: 44,104,646 (GRCm39) S333L probably benign Het
Adcy6 A G 15: 98,498,919 (GRCm39) F294S probably damaging Het
Adhfe1 A G 1: 9,628,417 (GRCm39) N263S probably null Het
Aebp2 A T 6: 140,583,453 (GRCm39) Q309L possibly damaging Het
Akap7 A G 10: 25,047,054 (GRCm39) Y281H probably damaging Het
Aplf T C 6: 87,606,987 (GRCm39) R476G probably benign Het
Atg2a G A 19: 6,299,859 (GRCm39) A588T probably damaging Het
Birc6 A G 17: 74,905,073 (GRCm39) T1289A probably benign Het
Cacna1d A G 14: 29,773,475 (GRCm39) S1759P probably benign Het
Calcoco1 T C 15: 102,624,228 (GRCm39) D236G probably damaging Het
Camsap2 A T 1: 136,208,077 (GRCm39) D470E probably benign Het
Capn8 G T 1: 182,392,698 (GRCm39) V25L probably benign Het
Card10 A G 15: 78,660,884 (GRCm39) V1041A probably damaging Het
Ccr1 T A 9: 123,764,119 (GRCm39) H137L probably damaging Het
Cdh23 A T 10: 60,151,435 (GRCm39) D2483E probably damaging Het
Chd2 G T 7: 73,085,532 (GRCm39) Q1701K probably benign Het
Ckmt2 T A 13: 92,007,335 (GRCm39) R286S probably damaging Het
Clhc1 G A 11: 29,503,746 (GRCm39) R54Q probably benign Het
Cntnap3 T A 13: 64,935,681 (GRCm39) D394V probably damaging Het
Comp A G 8: 70,831,704 (GRCm39) D441G probably damaging Het
Cyp20a1 G A 1: 60,391,330 (GRCm39) probably null Het
Cyp27a1 A T 1: 74,771,214 (GRCm39) D133V probably benign Het
Cyp2a12 C T 7: 26,732,083 (GRCm39) Q275* probably null Het
Dnhd1 A T 7: 105,343,995 (GRCm39) I1780L probably benign Het
Dpy19l2 A G 9: 24,580,702 (GRCm39) V213A probably benign Het
Eml1 A T 12: 108,476,458 (GRCm39) I283F probably damaging Het
Ep300 A G 15: 81,523,218 (GRCm39) T1281A unknown Het
Ercc6l2 G A 13: 64,020,285 (GRCm39) E803K Het
Fat3 A G 9: 15,901,887 (GRCm39) V3046A possibly damaging Het
Fbxw20 A G 9: 109,063,763 (GRCm39) V3A probably benign Het
Fcgr2b A G 1: 170,795,702 (GRCm39) S76P possibly damaging Het
Fgg C T 3: 82,917,477 (GRCm39) Q169* probably null Het
Flnb A G 14: 7,889,183 (GRCm38) Y511C probably damaging Het
Ggt5 G A 10: 75,450,666 (GRCm39) V558I probably benign Het
Gm4779 G C X: 100,837,390 (GRCm39) T171S possibly damaging Het
Greb1 A T 12: 16,774,925 (GRCm39) C157* probably null Het
Grid2ip A G 5: 143,348,344 (GRCm39) E145G probably benign Het
Hdac11 T A 6: 91,149,210 (GRCm39) V238E probably damaging Het
Herc2 A G 7: 55,855,638 (GRCm39) D3858G probably damaging Het
Hoxc4 A G 15: 102,943,165 (GRCm39) Y6C probably damaging Het
Incenp A G 19: 9,870,993 (GRCm39) L212P unknown Het
Incenp G C 19: 9,871,005 (GRCm39) T208R unknown Het
Mctp1 T A 13: 76,949,666 (GRCm39) probably null Het
Megf8 T C 7: 25,057,848 (GRCm39) M2095T probably benign Het
Mroh2b G A 15: 4,941,391 (GRCm39) V308I probably benign Het
Muc1 T A 3: 89,139,341 (GRCm39) H580Q probably damaging Het
Naip6 A T 13: 100,452,920 (GRCm39) M47K probably benign Het
Nectin3 C T 16: 46,256,754 (GRCm39) R419Q probably benign Het
Nlrp4g T G 9: 124,353,392 (GRCm38) Y579D noncoding transcript Het
Nrxn1 C A 17: 90,471,249 (GRCm39) R1260L probably damaging Het
Nynrin A G 14: 56,100,815 (GRCm39) I202V possibly damaging Het
Or14j7 T C 17: 38,234,847 (GRCm39) L130P probably damaging Het
Or51e2 A G 7: 102,392,034 (GRCm39) Y59H probably damaging Het
Or5ac17 T C 16: 59,036,458 (GRCm39) I173V probably benign Het
Or5b98 T C 19: 12,931,727 (GRCm39) M258T possibly damaging Het
Pard3 G A 8: 128,098,021 (GRCm39) W354* probably null Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Peak1 A G 9: 56,166,677 (GRCm39) V417A probably damaging Het
Prune2 A G 19: 17,189,672 (GRCm39) R3052G unknown Het
Prx T C 7: 27,218,808 (GRCm39) L1242P probably damaging Het
Pxylp1 A G 9: 96,707,633 (GRCm39) I183T probably benign Het
Ranbp2 A G 10: 58,291,755 (GRCm39) E254G probably benign Het
Ren1 C T 1: 133,278,534 (GRCm39) R31* probably null Het
Rhot2 C A 17: 26,058,864 (GRCm39) R512L probably benign Het
Rpa1 T C 11: 75,193,550 (GRCm39) N594D probably benign Het
Rpp14 T G 14: 8,090,526 (GRCm38) V150G probably null Het
Rxfp2 T A 5: 149,983,365 (GRCm39) I300K probably damaging Het
Scarf1 T A 11: 75,414,689 (GRCm39) S486T probably damaging Het
Slc24a4 T C 12: 102,220,928 (GRCm39) V455A probably damaging Het
Slitrk1 A G 14: 109,148,653 (GRCm39) V686A probably benign Het
Spata31e2 T C 1: 26,721,562 (GRCm39) E1206G probably benign Het
Ston2 A T 12: 91,608,454 (GRCm39) I882N probably benign Het
Syne2 C A 12: 75,996,143 (GRCm39) Q2228K possibly damaging Het
Tcf20 A C 15: 82,736,474 (GRCm39) F1659C probably damaging Het
Tenm4 G A 7: 96,517,198 (GRCm39) G1430S probably damaging Het
Tlr12 C A 4: 128,511,492 (GRCm39) A253S probably benign Het
Tmem87a A G 2: 120,227,928 (GRCm39) F73S possibly damaging Het
Trpm1 G A 7: 63,918,777 (GRCm39) A1590T probably benign Het
Usp13 C T 3: 32,971,748 (GRCm39) Q743* probably null Het
Vmn1r184 T A 7: 25,966,686 (GRCm39) M144K probably benign Het
Wee2 A G 6: 40,421,114 (GRCm39) D68G 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
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'- CCTGCAATGATAAGTAAAAGCCATC -3'
(R):5'- CAGTTGTTCAGAATGCCAAGAAG -3'

Sequencing Primer
(F):5'- CATCATCTGGTCCAGTCAGC -3'
(R):5'- TACGACATGGGAATCCTAGGTG -3'
Posted On 2020-07-28