Incidental Mutation 'IGL01503:Sfmbt2'
ID88956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfmbt2
Ensembl Gene ENSMUSG00000061186
Gene NameScm-like with four mbt domains 2
SynonymsD2Wsu23e, D330030P06Rik
Accession Numbers

Genbank: NM_177386; MGI: 2447794

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01503
Quality Score
Status
Chromosome2
Chromosomal Location10370510-10595253 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 10579354 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 841 (R841*)
Ref Sequence ENSEMBL: ENSMUSP00000112293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041105] [ENSMUST00000116594]
Predicted Effect probably null
Transcript: ENSMUST00000041105
AA Change: R874*
SMART Domains Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: R874*

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 probably null
Transcript: ENSMUST00000116594
AA Change: R841*
SMART Domains Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: R841*

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 89,174,869 Y26* probably null Het
Arpc1a T C 5: 145,096,154 V91A probably damaging Het
Atp2a1 T A 7: 126,448,578 I687F probably damaging Het
B3gnt5 A C 16: 19,769,781 Y250S probably damaging Het
Brip1 A G 11: 86,061,877 V1026A probably benign Het
C1s2 T C 6: 124,625,653 D527G probably damaging Het
Chrna5 T A 9: 54,998,171 probably benign Het
Cltc C A 11: 86,695,700 probably benign Het
Dgkh T G 14: 78,616,270 I439L possibly damaging Het
Dnajc16 G A 4: 141,763,697 T714I possibly damaging Het
Fam13a A T 6: 58,956,080 I349N probably damaging Het
Fig4 C T 10: 41,256,518 D431N probably benign Het
Gabra4 A T 5: 71,641,086 N183K possibly damaging Het
Ggt5 C T 10: 75,610,110 probably benign Het
Gm436 T A 4: 144,674,567 I116F probably damaging Het
Hdac6 A G X: 7,932,179 L798P probably damaging Het
Hectd4 T C 5: 121,318,651 V2030A probably benign Het
Hecw2 A G 1: 53,826,961 Y1514H probably damaging Het
Hmcn1 T C 1: 150,605,072 D4451G probably benign Het
Krtcap3 T C 5: 31,251,823 probably benign Het
Ltn1 A T 16: 87,420,807 probably benign Het
Mapkapk2 T C 1: 131,058,762 M1V probably null Het
Mical3 A T 6: 120,958,576 I1663N probably benign Het
Mvp G T 7: 127,001,961 probably benign Het
Myo5c A G 9: 75,263,042 I485V probably damaging Het
N4bp2 T A 5: 65,803,547 C520* probably null Het
Nos2 A G 11: 78,945,863 probably benign Het
Ogdh G A 11: 6,355,069 V925M probably damaging Het
Pde2a T A 7: 101,501,936 probably benign Het
Plpp6 A G 19: 28,964,879 *293W probably null Het
Pole T A 5: 110,303,884 I864K probably damaging Het
Rexo4 A T 2: 26,960,633 I239N probably benign Het
Scn1a T A 2: 66,322,343 I748F probably damaging Het
Sh3bp5l A G 11: 58,338,001 N100S probably damaging Het
Spic T A 10: 88,675,761 D211V probably damaging Het
Stab2 A G 10: 86,940,613 probably benign Het
Tshr A G 12: 91,511,934 Y83C probably damaging Het
Vsir A G 10: 60,368,594 E172G probably damaging Het
Wwp2 T C 8: 107,549,781 S508P probably damaging Het
Other mutations in Sfmbt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Sfmbt2 APN 2 10402007 missense probably damaging 1.00
IGL01294:Sfmbt2 APN 2 10590421 splice site probably benign
IGL01996:Sfmbt2 APN 2 10440026 missense probably benign 0.05
IGL02071:Sfmbt2 APN 2 10577952 missense probably benign 0.17
IGL02440:Sfmbt2 APN 2 10568383 missense probably damaging 1.00
IGL02718:Sfmbt2 APN 2 10402031 missense possibly damaging 0.69
IGL03213:Sfmbt2 APN 2 10404574 missense probably damaging 1.00
IGL03325:Sfmbt2 APN 2 10577817 missense probably damaging 1.00
Supermarket UTSW 2 10579381 missense possibly damaging 0.65
3-1:Sfmbt2 UTSW 2 10404466 missense probably damaging 1.00
D605:Sfmbt2 UTSW 2 10579325 missense probably benign 0.08
R0919:Sfmbt2 UTSW 2 10577571 missense probably benign 0.04
R1180:Sfmbt2 UTSW 2 10402066 missense probably damaging 1.00
R2391:Sfmbt2 UTSW 2 10445693 missense possibly damaging 0.89
R4208:Sfmbt2 UTSW 2 10542982 missense probably damaging 1.00
R4898:Sfmbt2 UTSW 2 10579258 missense possibly damaging 0.76
R4928:Sfmbt2 UTSW 2 10445745 missense probably benign 0.17
R5643:Sfmbt2 UTSW 2 10568373 missense probably damaging 0.99
R5644:Sfmbt2 UTSW 2 10568373 missense probably damaging 0.99
R5862:Sfmbt2 UTSW 2 10402052 missense possibly damaging 0.57
R5990:Sfmbt2 UTSW 2 10579381 missense possibly damaging 0.65
R6721:Sfmbt2 UTSW 2 10543025 missense probably damaging 0.99
R7098:Sfmbt2 UTSW 2 10579189 missense probably benign 0.04
R7133:Sfmbt2 UTSW 2 10402007 missense probably damaging 1.00
R7455:Sfmbt2 UTSW 2 10577955 missense probably benign 0.04
R7809:Sfmbt2 UTSW 2 10393344 missense probably benign 0.02
R8090:Sfmbt2 UTSW 2 10461379 missense probably benign 0.01
R8181:Sfmbt2 UTSW 2 10575379 missense probably benign 0.09
R8346:Sfmbt2 UTSW 2 10461425 missense probably damaging 0.99
Z1088:Sfmbt2 UTSW 2 10579183 missense probably damaging 1.00
Z1176:Sfmbt2 UTSW 2 10575347 missense possibly damaging 0.71
Posted On2013-12-03