Incidental Mutation 'R5286:Sfmbt1'
ID 424373
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 042870-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.679) question?
Stock # R5286 (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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (64/64)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,742,358 (GRCm39) I417V probably benign Het
Adad1 T C 3: 37,119,399 (GRCm39) V160A possibly damaging Het
Adcy7 A G 8: 89,051,487 (GRCm39) E869G probably damaging Het
Birc6 G A 17: 74,977,242 (GRCm39) A4352T probably damaging Het
Brd2 T A 17: 34,334,205 (GRCm39) T286S probably damaging Het
Bsn G T 9: 107,988,123 (GRCm39) probably benign Het
Cables1 A G 18: 12,057,884 (GRCm39) T335A probably benign Het
Cacna1d A T 14: 30,072,682 (GRCm39) S98T possibly damaging Het
Ccdc181 A G 1: 164,105,810 (GRCm39) Y15C probably damaging Het
Dlgap4 T G 2: 156,587,839 (GRCm39) V39G probably damaging Het
Epb41l3 G A 17: 69,569,268 (GRCm39) R504H probably benign Het
Fbxo7 T C 10: 85,857,954 (GRCm39) L23P probably damaging Het
Gm42791 A C 5: 148,887,178 (GRCm39) probably benign Het
Gprc5b A T 7: 118,582,910 (GRCm39) F320I possibly damaging Het
Gtf3c1 G A 7: 125,262,580 (GRCm39) T1093M possibly damaging Het
Hddc3 G T 7: 79,993,543 (GRCm39) R83L probably damaging Het
Iars2 T C 1: 185,055,318 (GRCm39) probably benign Het
Ift25 T A 4: 107,136,998 (GRCm39) I132N probably damaging Het
Igfn1 T C 1: 135,895,599 (GRCm39) K1656E probably benign Het
Itk A C 11: 46,228,926 (GRCm39) probably null Het
Klra6 G A 6: 129,995,932 (GRCm39) T142I probably benign Het
Knop1 C T 7: 118,454,993 (GRCm39) A3T probably damaging Het
Lamc3 A G 2: 31,808,608 (GRCm39) H788R probably damaging Het
Lrif1 A G 3: 106,639,859 (GRCm39) R315G probably damaging Het
Mfap3l A G 8: 61,109,903 (GRCm39) D93G probably benign Het
Ngef T C 1: 87,473,552 (GRCm39) S77G probably benign Het
Nt5dc3 T C 10: 86,640,656 (GRCm39) S13P probably benign Het
Or9s13 T C 1: 92,548,084 (GRCm39) V152A probably benign Het
Pclo T C 5: 14,729,761 (GRCm39) probably benign Het
Pkhd1l1 C T 15: 44,378,368 (GRCm39) Q1041* probably null Het
Ppl G A 16: 4,906,987 (GRCm39) R1103* probably null Het
Ppp4r3b T A 11: 29,161,667 (GRCm39) D680E probably benign Het
Rasgrf2 T G 13: 92,267,941 (GRCm39) K21T possibly damaging Het
Rev1 T A 1: 38,094,407 (GRCm39) K1004* probably null Het
Rgs9 T G 11: 109,130,277 (GRCm39) probably null Het
Rnf31 T C 14: 55,829,693 (GRCm39) L86P probably damaging Het
Rps13 A G 7: 115,933,155 (GRCm39) Y18H probably damaging Het
Rxfp2 T C 5: 149,958,909 (GRCm39) F33S probably damaging Het
Stard9 T A 2: 120,532,428 (GRCm39) V2895D probably benign Het
Syn3 T C 10: 86,187,428 (GRCm39) N232S possibly damaging Het
Taok3 T A 5: 117,404,140 (GRCm39) Y772N probably damaging Het
Tspan4 A G 7: 141,062,483 (GRCm39) probably null Het
Ttn C A 2: 76,684,530 (GRCm39) probably benign Het
Vwa3b T A 1: 37,084,120 (GRCm39) W98R probably damaging Het
Vwa5b2 A T 16: 20,415,058 (GRCm39) D360V probably damaging Het
Wdr73 A T 7: 80,541,557 (GRCm39) D328E probably benign Het
Xpo5 A G 17: 46,545,406 (GRCm39) N824S probably benign Het
Zbtb2 C T 10: 4,318,566 (GRCm39) G487S possibly 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
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
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'- AGTCTGCAAGCGAGTAACG -3'
(R):5'- GAACACAGCCATACCCTTGTG -3'

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