Incidental Mutation 'R6429:Sfmbt1'
ID 518445
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 044567-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.679) question?
Stock # R6429 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 30436806-30544678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30495868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 50 (F50L)
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: F50L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: F50L

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: F50L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: F50L

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
AA Change: F50L

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably damaging
Transcript: ENSMUST00000227303
AA Change: F50L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227408
Predicted Effect probably damaging
Transcript: ENSMUST00000228006
AA Change: F50L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G A 5: 114,366,652 (GRCm39) E1565K probably damaging Het
Amy1 T C 3: 113,363,158 (GRCm39) N63S probably damaging Het
Arhgef15 G T 11: 68,838,622 (GRCm39) N591K probably damaging Het
AW551984 A G 9: 39,511,910 (GRCm39) S34P probably damaging Het
C2cd3 A G 7: 100,081,298 (GRCm39) D127G probably damaging Het
Ccdc87 T A 19: 4,891,263 (GRCm39) V585E probably benign Het
Cemip2 T C 19: 21,779,272 (GRCm39) C361R probably benign Het
Cul2 T C 18: 3,421,345 (GRCm39) I223T probably damaging Het
Dgkq C T 5: 108,801,574 (GRCm39) V495M probably damaging Het
Dpp10 A G 1: 123,295,330 (GRCm39) I570T possibly damaging Het
Dstyk C T 1: 132,377,542 (GRCm39) Q383* probably null Het
Emilin2 C A 17: 71,617,951 (GRCm39) probably benign Het
Fnip1 A G 11: 54,406,393 (GRCm39) I1163M probably damaging Het
Fryl C T 5: 73,248,094 (GRCm39) E1008K possibly damaging Het
Gm35315 A T 5: 110,226,525 (GRCm39) Y305N possibly damaging Het
Grhl3 T A 4: 135,284,507 (GRCm39) D195V probably damaging Het
Ift56 T A 6: 38,375,248 (GRCm39) S250T possibly damaging Het
Il33 T C 19: 29,929,400 (GRCm39) F41S probably benign Het
Il4 A G 11: 53,504,736 (GRCm39) S15P possibly damaging Het
Inf2 C T 12: 112,570,690 (GRCm39) P410S probably benign Het
Kalrn T A 16: 34,152,534 (GRCm39) D349V possibly damaging Het
Krt4 A G 15: 101,831,229 (GRCm39) M224T probably benign Het
Lrp2 C T 2: 69,291,631 (GRCm39) S3516N probably damaging Het
Macf1 A T 4: 123,295,387 (GRCm39) probably null Het
Msr1 G A 8: 40,068,858 (GRCm39) P213S probably damaging Het
Nptx1 G T 11: 119,435,547 (GRCm39) C256* probably null Het
Nr1d1 T C 11: 98,662,840 (GRCm39) Y51C probably damaging Het
Or4c11c G A 2: 88,661,869 (GRCm39) R136Q probably benign Het
Panx3 T C 9: 37,572,461 (GRCm39) D363G probably damaging Het
Pira13 A T 7: 3,825,345 (GRCm39) H432Q possibly damaging Het
Prkag1 A G 15: 98,712,404 (GRCm39) F143L probably damaging Het
Ptger4 T C 15: 5,272,478 (GRCm39) K72R possibly damaging Het
Pvrig-ps A G 5: 138,340,312 (GRCm39) T28A probably benign Het
Rhod C T 19: 4,476,133 (GRCm39) C206Y probably benign Het
Rngtt C A 4: 33,320,606 (GRCm39) S51* probably null Het
Rreb1 T G 13: 38,116,105 (GRCm39) S1155A probably benign Het
Scn9a A C 2: 66,357,307 (GRCm39) I998S possibly damaging Het
Six4 A T 12: 73,150,247 (GRCm39) V766D probably damaging Het
Smpd1 T C 7: 105,206,135 (GRCm39) I421T probably damaging Het
Son T A 16: 91,455,054 (GRCm39) M1267K probably benign Het
Styk1 T A 6: 131,287,027 (GRCm39) D156V possibly damaging Het
Supt3 A G 17: 45,430,030 (GRCm39) E361G probably benign Het
Tbx3 T A 5: 119,812,256 (GRCm39) Y185* probably null Het
Trpm1 A T 7: 63,918,252 (GRCm39) T531S probably benign Het
Tspan32 T A 7: 142,572,479 (GRCm39) W172R possibly damaging Het
Urb1 A T 16: 90,559,318 (GRCm39) probably null Het
Vmn2r70 T A 7: 85,208,276 (GRCm39) I734F probably damaging Het
Vwa7 A G 17: 35,243,175 (GRCm39) T618A probably benign Het
Wac T A 18: 7,920,163 (GRCm39) V339E probably damaging Het
Wrn G A 8: 33,833,024 (GRCm39) T156M probably damaging Het
Zeb1 T A 18: 5,770,498 (GRCm39) C884S probably damaging Het
Zfp747l1 T C 7: 126,984,214 (GRCm39) probably benign Het
Zmpste24 A G 4: 120,952,867 (GRCm39) V10A 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
R5287: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
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'- ATGTGAGGCAGAGCTCTGTAG -3'
(R):5'- TTCTGCTGACACCACCCAATG -3'

Sequencing Primer
(F):5'- GCCCACTGTTATGAATTAGAATTGG -3'
(R):5'- AATGGGGTAGAGGCCAGCTTTC -3'
Posted On 2018-05-24