Incidental Mutation 'IGL03213:Sfmbt2'
ID 413373
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 # IGL03213
Quality Score
Status
Chromosome 2
Chromosomal Location 10375321-10600064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10409385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 110 (Y110C)
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 probably damaging
Transcript: ENSMUST00000041105
AA Change: Y110C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: Y110C

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: Y110C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110511
Gene: ENSMUSG00000061186
AA Change: Y110C

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114862
AA Change: Y110C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110512
Gene: ENSMUSG00000061186
AA Change: Y110C

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114864
AA Change: Y110C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110514
Gene: ENSMUSG00000061186
AA Change: Y110C

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000116594
AA Change: Y110C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: Y110C

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A T 2: 22,831,971 (GRCm39) D447E probably damaging Het
Aldh8a1 T C 10: 21,260,616 (GRCm39) V175A probably damaging Het
Aoc1l3 A G 6: 48,965,279 (GRCm39) D429G possibly damaging Het
Arap2 T A 5: 62,906,438 (GRCm39) T194S probably benign Het
Arih2 T C 9: 108,484,546 (GRCm39) T422A probably damaging Het
Arl5b T A 2: 15,074,676 (GRCm39) N52K probably damaging Het
Atg13 G A 2: 91,515,512 (GRCm39) H227Y probably damaging Het
Ccdc178 T C 18: 22,253,748 (GRCm39) T164A possibly damaging Het
Cep192 T C 18: 67,998,708 (GRCm39) V2074A probably damaging Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Chrm3 G A 13: 9,928,220 (GRCm39) T272I probably benign Het
Cln8 A G 8: 14,944,845 (GRCm39) Y53C probably damaging Het
Cwc27 T A 13: 104,932,911 (GRCm39) probably benign Het
Cyp3a13 A T 5: 137,892,529 (GRCm39) probably benign Het
Dchs1 G T 7: 105,404,279 (GRCm39) N2754K probably damaging Het
Dclk1 A T 3: 55,387,805 (GRCm39) K84* probably null Het
Ednra T C 8: 78,446,848 (GRCm39) T77A probably benign Het
Epn2 T C 11: 61,410,510 (GRCm39) N553D probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gm10784 T A 13: 50,099,310 (GRCm39) noncoding transcript Het
Gtf2e2 T C 8: 34,242,525 (GRCm39) F76L probably damaging Het
Hnrnpll A T 17: 80,341,527 (GRCm39) V504E probably damaging Het
Ifitm2 A G 7: 140,535,677 (GRCm39) V51A possibly damaging Het
Il16 C T 7: 83,295,708 (GRCm39) E456K probably damaging Het
Lmod2 A T 6: 24,603,615 (GRCm39) I197F possibly damaging Het
Lrrc14 T C 15: 76,597,983 (GRCm39) S238P possibly damaging Het
Map3k1 A G 13: 111,885,426 (GRCm39) probably benign Het
Phf11d C A 14: 59,586,797 (GRCm39) R210S probably benign Het
Pigu T C 2: 155,177,291 (GRCm39) N103S probably damaging Het
Rgsl1 A G 1: 153,701,587 (GRCm39) V289A probably benign Het
Rp1l1 T A 14: 64,265,864 (GRCm39) S483R probably damaging Het
Ryr2 A T 13: 11,739,273 (GRCm39) probably benign Het
Sema3c T G 5: 17,899,637 (GRCm39) probably benign Het
Septin4 G T 11: 87,458,184 (GRCm39) probably null Het
Slc12a3 T C 8: 95,061,933 (GRCm39) V328A possibly damaging Het
Smarca2 G A 19: 26,601,375 (GRCm39) G31D probably damaging Het
Spmip1 G A 6: 29,471,792 (GRCm39) M89I probably damaging Het
Tenm2 T G 11: 35,914,157 (GRCm39) E2460A probably benign Het
Trim58 T A 11: 58,541,993 (GRCm39) W318R probably benign Het
Ube3a C T 7: 58,935,870 (GRCm39) Q585* probably null Het
Vmn2r17 T C 5: 109,582,256 (GRCm39) probably null Het
Zfp647 A G 15: 76,796,177 (GRCm39) V161A possibly 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
IGL02718:Sfmbt2 APN 2 10,406,842 (GRCm39) missense possibly damaging 0.69
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 2016-08-02