Incidental Mutation 'R5295:Sfmbt1'
ID 405374
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 042878-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.679) question?
Stock # R5295 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 30436806-30544678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30495986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 90 (D90N)
Ref Sequence ENSEMBL: ENSMUSP00000153962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054230] [ENSMUST00000112184] [ENSMUST00000227201] [ENSMUST00000227303] [ENSMUST00000228006]
AlphaFold Q9JMD1
Predicted Effect probably damaging
Transcript: ENSMUST00000054230
AA Change: D90N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: D90N

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: D90N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107799
Gene: ENSMUSG00000006527
AA Change: D90N

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: D90N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: D90N

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 noncoding transcript
Transcript: ENSMUST00000128554
Predicted Effect probably damaging
Transcript: ENSMUST00000131706
AA Change: D90N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117866
Gene: ENSMUSG00000006527
AA Change: D90N

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 7.3e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000227201
AA Change: D90N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000227303
AA Change: D90N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000228006
AA Change: D90N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227408
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C T 18: 65,438,109 (GRCm39) E1095K probably damaging Het
Alpl T C 4: 137,476,919 (GRCm39) T245A probably benign Het
Ank2 T C 3: 126,825,832 (GRCm39) H378R probably damaging Het
Arhgef1 G A 7: 24,618,777 (GRCm39) probably null Het
Atp5f1c T C 2: 10,073,544 (GRCm39) R10G possibly damaging Het
Cbln3 T C 14: 56,120,920 (GRCm39) probably null Het
Ccr10 C T 11: 101,065,111 (GRCm39) V140M possibly damaging Het
Cep135 T A 5: 76,741,051 (GRCm39) H42Q possibly damaging Het
Commd5 C A 15: 76,785,152 (GRCm39) T183K possibly damaging Het
Dnajc16 T C 4: 141,495,239 (GRCm39) E493G possibly damaging Het
Ears2 T C 7: 121,647,421 (GRCm39) R288G probably damaging Het
Elovl4 G A 9: 83,662,714 (GRCm39) P273L possibly damaging Het
Fam186b T A 15: 99,181,755 (GRCm39) I148F probably damaging Het
Fryl T C 5: 73,270,134 (GRCm39) Y79C probably damaging Het
Gad1-ps A G 10: 99,280,751 (GRCm39) noncoding transcript Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Ighv1-77 T A 12: 115,825,528 (GRCm39) S104C probably damaging Het
Kcnv1 T C 15: 44,977,987 (GRCm39) D17G unknown Het
Lmtk3 G A 7: 45,440,722 (GRCm39) D243N probably damaging Het
Lrrc7 T A 3: 157,876,376 (GRCm39) K571N probably damaging Het
Lsm7 T C 10: 80,690,454 (GRCm39) E32G probably damaging Het
Ly6f A G 15: 75,143,488 (GRCm39) Q65R probably benign Het
Perm1 T C 4: 156,301,975 (GRCm39) L173P probably benign Het
Plvap T C 8: 71,964,314 (GRCm39) Q16R probably benign Het
Prb1c T G 6: 132,338,840 (GRCm39) Q126P unknown Het
Prl7d1 A T 13: 27,893,230 (GRCm39) V227D probably damaging Het
Prss54 T C 8: 96,291,106 (GRCm39) T165A probably damaging Het
Psrc1 A G 3: 108,293,675 (GRCm39) I195V probably benign Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Rnf213 A T 11: 119,331,642 (GRCm39) T2284S probably benign Het
Serpina3c T C 12: 104,114,637 (GRCm39) E333G probably damaging Het
Serpinb6c A G 13: 34,077,800 (GRCm39) F190S probably damaging Het
Tdh T C 14: 63,733,558 (GRCm39) Y110C probably damaging Het
Tdrd9 T A 12: 112,018,346 (GRCm39) L1255* probably null Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zbtb2 T C 10: 4,318,508 (GRCm39) K506R probably damaging Het
Zmiz1 T C 14: 25,656,771 (GRCm39) L800P probably damaging Het
Znhit6 A G 3: 145,306,248 (GRCm39) D251G probably benign 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
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'- GAAACACTCATACAATGTTTGTCTGG -3'
(R):5'- GTTCAAAACGTTAGCCTAAAATGC -3'

Sequencing Primer
(F):5'- CTGGTGCCTCATAAAATTGTGTC -3'
(R):5'- CGTTAGCCTAAAATGCTTTGTAAATC -3'
Posted On 2016-07-22