Incidental Mutation 'IGL01479:Sbsn'
ID 88535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sbsn
Ensembl Gene ENSMUSG00000046056
Gene Name suprabasin
Synonyms 1110005D19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL01479
Quality Score
Status
Chromosome 7
Chromosomal Location 30751471-30756134 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30752357 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 266 (A266T)
Ref Sequence ENSEMBL: ENSMUSP00000079362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080518] [ENSMUST00000182227] [ENSMUST00000182229] [ENSMUST00000182721]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000080518
AA Change: A266T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079362
Gene: ENSMUSG00000046056
AA Change: A266T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
internal_repeat_2 27 208 2.58e-16 PROSPERO
internal_repeat_1 39 233 7e-25 PROSPERO
low complexity region 295 307 N/A INTRINSIC
low complexity region 313 325 N/A INTRINSIC
low complexity region 331 343 N/A INTRINSIC
low complexity region 349 361 N/A INTRINSIC
internal_repeat_2 380 568 2.58e-16 PROSPERO
internal_repeat_1 446 626 7e-25 PROSPERO
low complexity region 637 651 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182227
SMART Domains Protein: ENSMUSP00000138427
Gene: ENSMUSG00000046056

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 47 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182229
SMART Domains Protein: ENSMUSP00000138561
Gene: ENSMUSG00000046056

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 114 135 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182577
SMART Domains Protein: ENSMUSP00000138367
Gene: ENSMUSG00000046056

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182686
Predicted Effect probably benign
Transcript: ENSMUST00000182721
SMART Domains Protein: ENSMUSP00000138654
Gene: ENSMUSG00000046056

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
internal_repeat_1 26 68 1.41e-7 PROSPERO
internal_repeat_1 84 126 1.41e-7 PROSPERO
low complexity region 128 145 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,272,935 K225R probably benign Het
Amn C A 12: 111,271,793 A47E probably damaging Het
Arhgef1 T C 7: 24,912,603 I137T probably benign Het
Cep57l1 T C 10: 41,728,639 K165E possibly damaging Het
Chfr A G 5: 110,144,993 probably benign Het
Dnah9 A G 11: 65,955,717 V2923A probably benign Het
Dnaja2 T C 8: 85,553,951 Y35C probably damaging Het
Dnajc2 T C 5: 21,757,893 T481A probably damaging Het
Foxred2 A G 15: 77,952,289 probably null Het
Gin1 C T 1: 97,792,372 T364I possibly damaging Het
Glt8d2 C T 10: 82,660,736 V163I probably damaging Het
Gm10118 T C 10: 63,926,820 probably benign Het
Hps5 C T 7: 46,762,942 probably null Het
Kdm4c A G 4: 74,343,501 K638E probably benign Het
L3mbtl2 A G 15: 81,676,392 T285A probably benign Het
Mab21l1 A G 3: 55,783,832 Y280C probably damaging Het
Mcoln2 T A 3: 146,175,652 probably benign Het
Myo9b G T 8: 71,359,342 R1926L probably damaging Het
Rrp12 A G 19: 41,865,202 V1251A probably benign Het
Rtn4rl1 A G 11: 75,265,342 D200G probably damaging Het
Sgca A T 11: 94,963,378 C335* probably null Het
Spag1 T C 15: 36,233,199 probably benign Het
Sult6b1 A T 17: 78,905,576 V82D probably benign Het
Tigit T C 16: 43,659,522 T137A probably benign Het
Tmem125 G A 4: 118,541,623 Q204* probably null Het
Tmem59l C T 8: 70,486,098 R111Q probably benign Het
Vmn2r95 G A 17: 18,443,862 G448R probably damaging Het
Zfp64 T C 2: 168,951,679 H49R probably damaging Het
Other mutations in Sbsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02649:Sbsn APN 7 30753258 missense probably damaging 0.96
IGL03154:Sbsn APN 7 30751728 missense possibly damaging 0.94
PIT4495001:Sbsn UTSW 7 30752966 intron probably benign
PIT4687001:Sbsn UTSW 7 30752966 intron probably benign
R0427:Sbsn UTSW 7 30752098 intron probably benign
R0892:Sbsn UTSW 7 30754819 missense possibly damaging 0.46
R1129:Sbsn UTSW 7 30753440 missense probably benign
R1388:Sbsn UTSW 7 30752151 missense probably benign 0.09
R1437:Sbsn UTSW 7 30753053 nonsense probably null
R2436:Sbsn UTSW 7 30752230 missense possibly damaging 0.53
R4020:Sbsn UTSW 7 30755965 missense probably damaging 0.98
R5485:Sbsn UTSW 7 30753117 missense possibly damaging 0.46
R5890:Sbsn UTSW 7 30753267 missense possibly damaging 0.46
R6616:Sbsn UTSW 7 30753279 missense possibly damaging 0.92
R6969:Sbsn UTSW 7 30753191 missense probably benign
R7302:Sbsn UTSW 7 30751884 missense probably benign 0.34
R7455:Sbsn UTSW 7 30753177 missense possibly damaging 0.46
R8225:Sbsn UTSW 7 30751994 intron probably benign
R8225:Sbsn UTSW 7 30752444 missense probably benign 0.00
R8330:Sbsn UTSW 7 30751941 missense possibly damaging 0.83
R8692:Sbsn UTSW 7 30752097 missense unknown
R8815:Sbsn UTSW 7 30754802 splice site probably benign
R9212:Sbsn UTSW 7 30753002 missense probably benign 0.00
Z1088:Sbsn UTSW 7 30751751 nonsense probably null
Z1177:Sbsn UTSW 7 30752330 missense probably benign 0.23
Z1186:Sbsn UTSW 7 30751848 missense probably benign 0.05
Z1186:Sbsn UTSW 7 30752892 missense probably benign 0.00
Posted On 2013-11-18