Incidental Mutation 'R5287:Sfmbt1'
ID 424428
Institutional Source Beutler Lab
Gene Symbol Sfmbt1
Ensembl Gene ENSMUSG00000006527
Gene Name Scm-like with four mbt domains 1
Synonyms Smr, 4930442N21Rik, 9330180L21Rik
MMRRC Submission 042871-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.679) question?
Stock # R5287 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30436806-30544678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30538777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 799 (V799M)
Ref Sequence ENSEMBL: ENSMUSP00000153861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054230] [ENSMUST00000112184] [ENSMUST00000227201] [ENSMUST00000227303] [ENSMUST00000228006]
AlphaFold Q9JMD1
Predicted Effect probably damaging
Transcript: ENSMUST00000054230
AA Change: V799M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: V799M

DomainStartEndE-ValueType
MBT 20 120 2.04e-40 SMART
MBT 128 232 4.22e-33 SMART
MBT 242 346 4.42e-36 SMART
MBT 354 451 7.06e-44 SMART
Pfam:DUF3588 498 617 6.7e-43 PFAM
low complexity region 628 642 N/A INTRINSIC
low complexity region 659 669 N/A INTRINSIC
low complexity region 693 749 N/A INTRINSIC
SAM 790 856 1.12e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112177
AA Change: V799M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107799
Gene: ENSMUSG00000006527
AA Change: V799M

DomainStartEndE-ValueType
MBT 20 120 2.04e-40 SMART
MBT 128 232 4.22e-33 SMART
MBT 242 346 4.42e-36 SMART
MBT 354 451 7.06e-44 SMART
Pfam:DUF3588 498 617 6.7e-43 PFAM
low complexity region 628 642 N/A INTRINSIC
low complexity region 659 669 N/A INTRINSIC
low complexity region 693 749 N/A INTRINSIC
SAM 790 856 1.12e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112184
AA Change: V799M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: V799M

DomainStartEndE-ValueType
MBT 20 120 2.04e-40 SMART
MBT 128 232 4.22e-33 SMART
MBT 242 346 4.42e-36 SMART
MBT 354 451 7.06e-44 SMART
Pfam:DUF3588 499 614 3.1e-41 PFAM
low complexity region 628 642 N/A INTRINSIC
low complexity region 659 669 N/A INTRINSIC
low complexity region 693 749 N/A INTRINSIC
SAM 790 856 1.12e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000227201
Predicted Effect probably benign
Transcript: ENSMUST00000227303
Predicted Effect probably damaging
Transcript: ENSMUST00000228006
AA Change: V799M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7906 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T C 2: 93,666,298 (GRCm39) D463G probably damaging Het
Acsbg3 G T 17: 57,183,221 (GRCm39) probably benign Het
Adcy8 C T 15: 64,588,001 (GRCm39) V929I probably benign Het
Anp32a A T 9: 62,249,275 (GRCm39) I16F possibly damaging Het
Arpin T C 7: 79,577,997 (GRCm39) E144G probably damaging Het
Asb18 T C 1: 89,942,110 (GRCm39) T64A probably benign Het
Asxl2 A G 12: 3,546,893 (GRCm39) N559S probably benign Het
Brd7 G T 8: 89,084,169 (GRCm39) Q148K probably damaging Het
Brinp1 A G 4: 68,711,201 (GRCm39) W336R probably benign Het
Btnl9 A G 11: 49,060,434 (GRCm39) V438A probably benign Het
Cat T C 2: 103,304,705 (GRCm39) T107A probably damaging Het
Catsperg2 T C 7: 29,397,263 (GRCm39) Y1080C possibly damaging Het
Ccdc138 T A 10: 58,411,527 (GRCm39) F632I possibly damaging Het
Cd46 C T 1: 194,744,719 (GRCm39) V340I possibly damaging Het
Celf1 T C 2: 90,839,552 (GRCm39) S326P possibly damaging Het
Ces1e T G 8: 93,935,240 (GRCm39) D404A probably benign Het
Chd3 A T 11: 69,239,895 (GRCm39) probably null Het
Clhc1 A G 11: 29,528,244 (GRCm39) probably benign Het
Cops8 C T 1: 90,534,342 (GRCm39) probably benign Het
Cpox G A 16: 58,495,649 (GRCm39) G322D probably damaging Het
Csmd2 C T 4: 128,380,677 (GRCm39) R2078C probably benign Het
Dnm1l A C 16: 16,151,732 (GRCm39) V240G probably damaging Het
Fezf1 C T 6: 23,248,010 (GRCm39) V22M probably benign Het
Gm6818 T G 7: 38,099,911 (GRCm39) noncoding transcript Het
Hand2 C T 8: 57,775,080 (GRCm39) L47F probably damaging Het
Insyn2b A T 11: 34,353,058 (GRCm39) T367S probably benign Het
Itga7 C A 10: 128,779,027 (GRCm39) R351S probably benign Het
Mmp8 G T 9: 7,567,507 (GRCm39) A456S probably benign Het
Mroh5 TGGAG TG 15: 73,654,923 (GRCm39) probably benign Het
Opn4 T C 14: 34,314,894 (GRCm39) T460A probably benign Het
Or6b2 A T 1: 92,408,019 (GRCm39) V108E possibly damaging Het
Otog T C 7: 45,918,753 (GRCm39) F943S probably damaging Het
Pcnx1 A T 12: 82,028,825 (GRCm39) Y1668F probably damaging Het
Pheta1 A G 5: 121,990,794 (GRCm39) E52G possibly damaging Het
Phf24 A T 4: 42,933,831 (GRCm39) probably null Het
Phkg2 GCTGCCGGACGAGTGGCCT GCT 7: 127,181,929 (GRCm39) probably null Het
Ppargc1a G A 5: 51,620,167 (GRCm39) probably benign Het
Ptprd G A 4: 75,872,405 (GRCm39) R1355* probably null Het
Ptprn2 A T 12: 117,175,482 (GRCm39) M721L probably damaging Het
Sec23ip A G 7: 128,367,860 (GRCm39) E624G probably benign Het
Snrnp200 T C 2: 127,073,607 (GRCm39) V1335A probably benign Het
Sp140 G A 1: 85,538,545 (GRCm39) probably null Het
Spdye4c T C 2: 128,434,560 (GRCm39) S46P possibly damaging Het
Syde1 T C 10: 78,425,871 (GRCm39) R99G probably benign Het
T2 A T 17: 8,636,835 (GRCm39) M57L probably benign Het
Tasor2 G A 13: 3,625,744 (GRCm39) S1402L probably benign Het
Tfap2e T C 4: 126,628,439 (GRCm39) I172M probably benign Het
Tk1 A T 11: 117,707,367 (GRCm39) V140E probably damaging Het
Tln2 G A 9: 67,149,641 (GRCm39) T1192M probably damaging Het
Tmed8 C A 12: 87,220,957 (GRCm39) A210S probably damaging Het
Tnip2 A G 5: 34,671,108 (GRCm39) L45P probably damaging Het
Ttc3 T C 16: 94,260,703 (GRCm39) V1396A probably benign Het
Ttn G T 2: 76,562,436 (GRCm39) S28803Y probably damaging Het
Wdr90 A T 17: 26,080,441 (GRCm39) probably benign Het
Zfp7 G A 15: 76,775,422 (GRCm39) R488Q probably damaging Het
Other mutations in Sfmbt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Sfmbt1 APN 14 30,532,268 (GRCm39) missense probably damaging 1.00
IGL01351:Sfmbt1 APN 14 30,491,777 (GRCm39) missense probably benign 0.00
IGL01478:Sfmbt1 APN 14 30,533,478 (GRCm39) missense probably damaging 1.00
IGL01632:Sfmbt1 APN 14 30,539,669 (GRCm39) missense probably damaging 1.00
IGL02252:Sfmbt1 APN 14 30,539,690 (GRCm39) missense probably damaging 1.00
IGL02456:Sfmbt1 APN 14 30,507,837 (GRCm39) missense probably damaging 0.99
IGL02651:Sfmbt1 APN 14 30,537,494 (GRCm39) missense probably damaging 1.00
IGL02967:Sfmbt1 APN 14 30,538,759 (GRCm39) missense probably damaging 1.00
PIT4142001:Sfmbt1 UTSW 14 30,538,714 (GRCm39) splice site probably null
PIT4519001:Sfmbt1 UTSW 14 30,506,148 (GRCm39) critical splice donor site probably null
PIT4531001:Sfmbt1 UTSW 14 30,518,283 (GRCm39) missense probably benign 0.00
R0043:Sfmbt1 UTSW 14 30,538,764 (GRCm39) missense probably damaging 0.99
R0389:Sfmbt1 UTSW 14 30,533,464 (GRCm39) missense probably damaging 1.00
R0395:Sfmbt1 UTSW 14 30,509,574 (GRCm39) splice site probably benign
R0562:Sfmbt1 UTSW 14 30,533,330 (GRCm39) splice site probably null
R1083:Sfmbt1 UTSW 14 30,509,498 (GRCm39) missense possibly damaging 0.92
R1900:Sfmbt1 UTSW 14 30,524,524 (GRCm39) missense probably damaging 1.00
R2447:Sfmbt1 UTSW 14 30,495,850 (GRCm39) missense possibly damaging 0.62
R3104:Sfmbt1 UTSW 14 30,539,753 (GRCm39) missense probably damaging 1.00
R3105:Sfmbt1 UTSW 14 30,539,753 (GRCm39) missense probably damaging 1.00
R3106:Sfmbt1 UTSW 14 30,539,753 (GRCm39) missense probably damaging 1.00
R4038:Sfmbt1 UTSW 14 30,509,449 (GRCm39) missense probably damaging 1.00
R5118:Sfmbt1 UTSW 14 30,512,727 (GRCm39) missense probably damaging 1.00
R5227:Sfmbt1 UTSW 14 30,537,211 (GRCm39) critical splice donor site probably null
R5286:Sfmbt1 UTSW 14 30,538,777 (GRCm39) missense probably damaging 1.00
R5295:Sfmbt1 UTSW 14 30,495,986 (GRCm39) missense probably damaging 1.00
R5620:Sfmbt1 UTSW 14 30,506,148 (GRCm39) critical splice donor site probably null
R6113:Sfmbt1 UTSW 14 30,537,141 (GRCm39) missense possibly damaging 0.68
R6139:Sfmbt1 UTSW 14 30,533,375 (GRCm39) missense probably damaging 1.00
R6429:Sfmbt1 UTSW 14 30,495,868 (GRCm39) missense probably damaging 1.00
R6657:Sfmbt1 UTSW 14 30,488,053 (GRCm39) missense possibly damaging 0.50
R6955:Sfmbt1 UTSW 14 30,487,991 (GRCm39) start gained probably benign
R6957:Sfmbt1 UTSW 14 30,509,546 (GRCm39) missense probably benign 0.00
R7206:Sfmbt1 UTSW 14 30,533,330 (GRCm39) splice site probably null
R7337:Sfmbt1 UTSW 14 30,506,696 (GRCm39) missense possibly damaging 0.62
R7451:Sfmbt1 UTSW 14 30,538,768 (GRCm39) missense probably benign 0.02
R7684:Sfmbt1 UTSW 14 30,532,311 (GRCm39) missense probably damaging 1.00
R7798:Sfmbt1 UTSW 14 30,538,759 (GRCm39) missense probably damaging 1.00
R7983:Sfmbt1 UTSW 14 30,519,673 (GRCm39) splice site probably null
R8468:Sfmbt1 UTSW 14 30,495,941 (GRCm39) missense probably benign
R9342:Sfmbt1 UTSW 14 30,519,599 (GRCm39) missense possibly damaging 0.94
R9446:Sfmbt1 UTSW 14 30,506,697 (GRCm39) missense possibly damaging 0.95
R9590:Sfmbt1 UTSW 14 30,512,727 (GRCm39) missense probably damaging 1.00
R9674:Sfmbt1 UTSW 14 30,495,851 (GRCm39) missense probably damaging 0.98
X0064:Sfmbt1 UTSW 14 30,537,162 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCTGCAAGCGAGTAACGG -3'
(R):5'- ACACAGCCATACCCTTGTG -3'

Sequencing Primer
(F):5'- TGGGGAATGTCAGTCTCAGGAC -3'
(R):5'- CCCTTGTGGTGTAGGTCATGAG -3'
Posted On 2016-08-04