Incidental Mutation 'IGL02718:Sfmbt2'
ID 304854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfmbt2
Ensembl Gene ENSMUSG00000061186
Gene Name Scm-like with four mbt domains 2
Synonyms D330030P06Rik, D2Wsu23e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02718
Quality Score
Status
Chromosome 2
Chromosomal Location 10375321-10600064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10406842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 47 (D47G)
Ref Sequence ENSEMBL: ENSMUSP00000040575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041105] [ENSMUST00000114861] [ENSMUST00000114862] [ENSMUST00000114864] [ENSMUST00000116594]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000041105
AA Change: D47G

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: D47G

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
MBT 151 255 2.03e-35 SMART
MBT 265 371 3.6e-27 SMART
MBT 379 475 4.15e-41 SMART
Pfam:DUF3588 528 643 1.4e-37 PFAM
low complexity region 719 738 N/A INTRINSIC
low complexity region 741 755 N/A INTRINSIC
low complexity region 853 869 N/A INTRINSIC
SAM 902 968 1.12e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114861
AA Change: D47G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110511
Gene: ENSMUSG00000061186
AA Change: D47G

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114862
AA Change: D47G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110512
Gene: ENSMUSG00000061186
AA Change: D47G

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114864
AA Change: D47G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110514
Gene: ENSMUSG00000061186
AA Change: D47G

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
Predicted Effect unknown
Transcript: ENSMUST00000116594
AA Change: D47G
SMART Domains Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: D47G

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
MBT 151 255 2.03e-35 SMART
MBT 265 371 3.6e-27 SMART
MBT 379 475 4.15e-41 SMART
Pfam:DUF3588 527 646 2.9e-40 PFAM
low complexity region 657 670 N/A INTRINSIC
low complexity region 686 705 N/A INTRINSIC
low complexity region 708 722 N/A INTRINSIC
internal_repeat_2 725 744 1.3e-5 PROSPERO
internal_repeat_2 745 764 1.3e-5 PROSPERO
low complexity region 820 836 N/A INTRINSIC
SAM 869 935 1.12e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126531
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(29) : Targeted, other(2) Gene trapped(27)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik A G 7: 30,399,329 (GRCm39) D41G probably damaging Het
2210408I21Rik T A 13: 77,322,991 (GRCm39) Y7N probably damaging Het
Atf1 C A 15: 100,152,100 (GRCm39) Q151K probably damaging Het
Brdt T C 5: 107,497,934 (GRCm39) probably benign Het
Cep295 T C 9: 15,237,049 (GRCm39) probably null Het
Ctnnd2 A G 15: 31,027,762 (GRCm39) S1229G probably damaging Het
Dcaf15 T A 8: 84,825,005 (GRCm39) I476L possibly damaging Het
Dlec1 A G 9: 118,966,354 (GRCm39) I1108V probably benign Het
Dnah9 T A 11: 65,777,466 (GRCm39) H3694L probably damaging Het
Dock10 A T 1: 80,501,535 (GRCm39) D1838E probably benign Het
Dusp12 A T 1: 170,708,226 (GRCm39) Y164N probably damaging Het
Ephx1 A G 1: 180,827,351 (GRCm39) F101L probably damaging Het
Fbn1 C A 2: 125,211,806 (GRCm39) C864F probably damaging Het
Fbxw24 T C 9: 109,453,858 (GRCm39) E96G possibly damaging Het
Glt1d1 C A 5: 127,727,763 (GRCm39) F78L probably damaging Het
Gm9602 A T 14: 15,932,620 (GRCm39) R21* probably null Het
Grip1 T A 10: 119,911,420 (GRCm39) *713K probably null Het
Hecw1 T C 13: 14,481,520 (GRCm39) probably null Het
Il31ra G A 13: 112,666,903 (GRCm39) R392* probably null Het
L3hypdh T G 12: 72,131,630 (GRCm39) S101R probably damaging Het
Lpar5 T A 6: 125,059,207 (GRCm39) D309E probably damaging Het
Masp1 T C 16: 23,295,043 (GRCm39) Y406C probably damaging Het
Mpdz T C 4: 81,303,439 (GRCm39) I166M probably damaging Het
Nbea A T 3: 55,539,483 (GRCm39) Y2759* probably null Het
Ncf1 A T 5: 134,256,302 (GRCm39) probably null Het
Nek5 T G 8: 22,587,479 (GRCm39) R314S probably benign Het
Nifk A C 1: 118,255,362 (GRCm39) N38T probably damaging Het
Obscn C T 11: 58,968,684 (GRCm39) V2772M probably damaging Het
Or10g9 A T 9: 39,912,182 (GRCm39) Y114N probably damaging Het
Or10z1 G T 1: 174,078,273 (GRCm39) Y73* probably null Het
Or2b28 T C 13: 21,531,554 (GRCm39) L152P probably damaging Het
Or2d3 A T 7: 106,490,536 (GRCm39) M260K probably damaging Het
Or52r1c C A 7: 102,734,790 (GRCm39) L22I probably benign Het
Or5k17 T C 16: 58,746,459 (GRCm39) I158M possibly damaging Het
Pbxip1 A G 3: 89,355,311 (GRCm39) E610G probably damaging Het
Pfas G T 11: 68,890,971 (GRCm39) probably benign Het
Plk4 T C 3: 40,769,456 (GRCm39) S102P probably damaging Het
Ptprz1 C T 6: 23,001,348 (GRCm39) T1146I possibly damaging Het
Pum2 T A 12: 8,783,344 (GRCm39) S598T probably benign Het
Ric1 T A 19: 29,510,640 (GRCm39) W74R probably damaging Het
Riok3 C A 18: 12,286,053 (GRCm39) S427* probably null Het
Ros1 A T 10: 51,994,328 (GRCm39) D1317E probably damaging Het
Slc12a1 C T 2: 125,002,999 (GRCm39) R177* probably null Het
Snai3 C A 8: 123,182,861 (GRCm39) probably null Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Soat1 A T 1: 156,268,999 (GRCm39) S151T probably benign Het
Spmip4 G T 6: 50,561,367 (GRCm39) T184K probably damaging Het
Stbd1 A G 5: 92,751,077 (GRCm39) E37G possibly damaging Het
Syt10 A G 15: 89,698,282 (GRCm39) I354T probably damaging Het
Trip11 A C 12: 101,852,284 (GRCm39) S593R probably benign Het
Ubr1 T C 2: 120,745,364 (GRCm39) E908G probably damaging Het
Yy1 T C 12: 108,781,405 (GRCm39) F357L probably damaging Het
Other mutations in Sfmbt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Sfmbt2 APN 2 10,406,818 (GRCm39) missense probably damaging 1.00
IGL01294:Sfmbt2 APN 2 10,595,232 (GRCm39) splice site probably benign
IGL01503:Sfmbt2 APN 2 10,584,165 (GRCm39) nonsense probably null
IGL01996:Sfmbt2 APN 2 10,444,837 (GRCm39) missense probably benign 0.05
IGL02071:Sfmbt2 APN 2 10,582,763 (GRCm39) missense probably benign 0.17
IGL02440:Sfmbt2 APN 2 10,573,194 (GRCm39) missense probably damaging 1.00
IGL03213:Sfmbt2 APN 2 10,409,385 (GRCm39) missense probably damaging 1.00
IGL03325:Sfmbt2 APN 2 10,582,628 (GRCm39) missense probably damaging 1.00
Supermarket UTSW 2 10,584,192 (GRCm39) missense possibly damaging 0.65
3-1:Sfmbt2 UTSW 2 10,409,277 (GRCm39) missense probably damaging 1.00
D605:Sfmbt2 UTSW 2 10,584,136 (GRCm39) missense probably benign 0.08
R0919:Sfmbt2 UTSW 2 10,582,382 (GRCm39) missense probably benign 0.04
R1180:Sfmbt2 UTSW 2 10,406,877 (GRCm39) missense probably damaging 1.00
R2391:Sfmbt2 UTSW 2 10,450,504 (GRCm39) missense possibly damaging 0.89
R4208:Sfmbt2 UTSW 2 10,547,793 (GRCm39) missense probably damaging 1.00
R4898:Sfmbt2 UTSW 2 10,584,069 (GRCm39) missense possibly damaging 0.76
R4928:Sfmbt2 UTSW 2 10,450,556 (GRCm39) missense probably benign 0.17
R5643:Sfmbt2 UTSW 2 10,573,184 (GRCm39) missense probably damaging 0.99
R5644:Sfmbt2 UTSW 2 10,573,184 (GRCm39) missense probably damaging 0.99
R5862:Sfmbt2 UTSW 2 10,406,863 (GRCm39) missense possibly damaging 0.57
R5990:Sfmbt2 UTSW 2 10,584,192 (GRCm39) missense possibly damaging 0.65
R6721:Sfmbt2 UTSW 2 10,547,836 (GRCm39) missense probably damaging 0.99
R7098:Sfmbt2 UTSW 2 10,584,000 (GRCm39) missense probably benign 0.04
R7133:Sfmbt2 UTSW 2 10,406,818 (GRCm39) missense probably damaging 1.00
R7455:Sfmbt2 UTSW 2 10,582,766 (GRCm39) missense probably benign 0.04
R7809:Sfmbt2 UTSW 2 10,398,155 (GRCm39) missense probably benign 0.02
R8090:Sfmbt2 UTSW 2 10,466,190 (GRCm39) missense probably benign 0.01
R8181:Sfmbt2 UTSW 2 10,580,190 (GRCm39) missense probably benign 0.09
R8346:Sfmbt2 UTSW 2 10,466,236 (GRCm39) missense probably damaging 0.99
R8983:Sfmbt2 UTSW 2 10,409,267 (GRCm39) missense probably damaging 0.98
R9226:Sfmbt2 UTSW 2 10,442,860 (GRCm39) missense probably benign 0.03
R9640:Sfmbt2 UTSW 2 10,583,994 (GRCm39) missense probably damaging 0.99
Z1088:Sfmbt2 UTSW 2 10,583,994 (GRCm39) missense probably damaging 1.00
Z1176:Sfmbt2 UTSW 2 10,580,158 (GRCm39) missense possibly damaging 0.71
Posted On 2015-04-16