Incidental Mutation 'R8142:Sbno1'
ID 632579
Institutional Source Beutler Lab
Gene Symbol Sbno1
Ensembl Gene ENSMUSG00000038095
Gene Name strawberry notch 1
Synonyms 9330180L10Rik, sno
MMRRC Submission 067570-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8142 (G1)
Quality Score 191.009
Status Not validated
Chromosome 5
Chromosomal Location 124506765-124564059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124546608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 194 (S194P)
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: S194P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: S194P

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: S193P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: S193P

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
AA Change: S159P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143084
Gene: ENSMUSG00000038095
AA Change: S159P

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: S194P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142827
Gene: ENSMUSG00000038095
AA Change: S194P

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
AA Change: S159P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142980
Gene: ENSMUSG00000038095
AA Change: S159P

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: S194P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: S194P

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
AA Change: S194P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143314
Gene: ENSMUSG00000038095
AA Change: S194P

DomainStartEndE-ValueType
low complexity region 217 234 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200474
AA Change: S158P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143516
Gene: ENSMUSG00000038095
AA Change: S158P

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 probably benign
Transcript: ENSMUST00000200674
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1e2 A T 17: 87,252,083 (GRCm39) I105N possibly damaging Het
Azi2 A G 9: 117,878,475 (GRCm39) D105G probably damaging Het
Bmpr2 T C 1: 59,909,465 (GRCm39) S980P probably damaging Het
Ccno T G 13: 113,125,489 (GRCm39) L151R probably damaging Het
Cdh2 A C 18: 16,734,791 (GRCm39) I801S probably benign Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Dab1 T A 4: 104,535,921 (GRCm39) V110D probably damaging Het
Dnah3 T C 7: 119,660,189 (GRCm39) T828A probably benign Het
Dnah5 G T 15: 28,384,519 (GRCm39) V3088L probably benign Het
Dtd2 T A 12: 52,046,593 (GRCm39) D82V probably damaging Het
Dusp5 T C 19: 53,525,912 (GRCm39) F185L probably damaging Het
Epha10 A G 4: 124,779,639 (GRCm39) T162A probably damaging Het
Fat4 A T 3: 38,945,352 (GRCm39) D1415V probably damaging Het
Fitm1 T C 14: 55,813,247 (GRCm39) Y37H possibly damaging Het
Flg2 G T 3: 93,122,782 (GRCm39) E1651* probably null Het
Ifit3 G T 19: 34,564,901 (GRCm39) C149F probably damaging Het
Lepr C A 4: 101,622,616 (GRCm39) H465Q possibly damaging Het
Ltn1 A C 16: 87,178,529 (GRCm39) S1567A probably benign Het
Marchf1 T C 8: 66,908,778 (GRCm39) V166A probably benign Het
Marveld2 T C 13: 100,737,448 (GRCm39) H424R possibly damaging Het
Mypop A G 7: 18,735,051 (GRCm39) T383A unknown Het
Ngef G C 1: 87,468,463 (GRCm39) R99G probably benign Het
Nherf4 A G 9: 44,162,078 (GRCm39) probably null Het
Npepps G T 11: 97,109,398 (GRCm39) A726D probably damaging Het
Or6c63-ps1 T A 10: 128,900,519 (GRCm39) D9V probably benign Het
Pcdhgb4 A G 18: 37,854,166 (GRCm39) D187G probably damaging Het
Per2 T C 1: 91,349,269 (GRCm39) E1034G possibly damaging Het
Pira1 A G 7: 3,739,842 (GRCm39) S418P possibly damaging Het
Pkhd1l1 G A 15: 44,378,327 (GRCm39) R1027H probably benign Het
Pon2 A T 6: 5,266,239 (GRCm39) V260D probably benign Het
Rnase13 A G 14: 52,159,893 (GRCm39) I82T probably damaging Het
Serpinb6c T A 13: 34,064,096 (GRCm39) I320L probably benign Het
Sh3rf3 C T 10: 58,885,205 (GRCm39) R363* probably null Het
Slc11a1 T C 1: 74,424,418 (GRCm39) F500L probably benign Het
Slc1a4 A G 11: 20,257,890 (GRCm39) probably null Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Sorcs2 T C 5: 36,219,958 (GRCm39) N362S possibly damaging Het
Stau2 A G 1: 16,530,575 (GRCm39) S115P unknown Het
Stk38l A G 6: 146,660,070 (GRCm39) N34S probably benign Het
Tmem201 T C 4: 149,803,114 (GRCm39) T585A probably benign Het
Ttc6 A T 12: 57,744,258 (GRCm39) I1297F possibly damaging Het
Uncx A G 5: 139,532,655 (GRCm39) D240G possibly damaging Het
Vmn2r88 A G 14: 51,651,564 (GRCm39) I293V Het
Vps11 T C 9: 44,265,852 (GRCm39) T476A probably benign Het
Vrtn T C 12: 84,697,395 (GRCm39) L715P probably damaging Het
Wdr72 T G 9: 74,046,949 (GRCm39) V65G probably damaging Het
Zbtb21 T C 16: 97,752,675 (GRCm39) E536G probably damaging Het
Zbtb34 G T 2: 33,302,493 (GRCm39) S16* probably null Het
Zfhx2 G A 14: 55,310,895 (GRCm39) L600F possibly damaging 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
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'- GTCAACAAGTTTTCTGAGAACCAAC -3'
(R):5'- TGTAGGCACTGCACACAAATG -3'

Sequencing Primer
(F):5'- TGTCCTGGAACTCAGTATGCAGAC -3'
(R):5'- GTGTAACTTGTAACCCCC -3'
Posted On 2020-06-30