Incidental Mutation 'R5535:Mfhas1'
ID 434773
Institutional Source Beutler Lab
Gene Symbol Mfhas1
Ensembl Gene ENSMUSG00000070056
Gene Name malignant fibrous histiocytoma amplified sequence 1
Synonyms D8Ertd91e, 2310066G09Rik
MMRRC Submission 043093-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R5535 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 36054952-36146603 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36057423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 633 (R633S)
Ref Sequence ENSEMBL: ENSMUSP00000044135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037666]
AlphaFold Q3V1N1
Predicted Effect possibly damaging
Transcript: ENSMUST00000037666
AA Change: R633S

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044135
Gene: ENSMUSG00000070056
AA Change: R633S

DomainStartEndE-ValueType
LRR 58 81 1.97e1 SMART
LRR 82 105 5.72e-1 SMART
LRR 106 125 2.79e1 SMART
LRR 130 152 8.09e-1 SMART
LRR_TYP 153 175 7.78e-3 SMART
LRR 176 195 5.48e0 SMART
LRR 199 221 6.57e-1 SMART
LRR 222 244 3.98e1 SMART
LRR 245 267 1.25e-1 SMART
LRR 268 290 3.27e1 SMART
LRR 291 313 1.43e-1 SMART
LRR 314 334 1.12e1 SMART
LRR_TYP 337 360 4.11e-2 SMART
Pfam:Roc 407 537 6.9e-11 PFAM
low complexity region 743 750 N/A INTRINSIC
low complexity region 754 761 N/A INTRINSIC
low complexity region 808 820 N/A INTRINSIC
Blast:LY 1018 1038 7e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181322
Predicted Effect unknown
Transcript: ENSMUST00000209953
AA Change: R438S
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b C T 9: 118,977,474 (GRCm39) G403S probably damaging Het
Agbl2 G A 2: 90,640,350 (GRCm39) V699I probably benign Het
Amer2 AAGGAGGAGGAGGAG AAGGAGGAGGAG 14: 60,616,302 (GRCm39) probably benign Het
Bace2 A T 16: 97,214,625 (GRCm39) Q271L probably damaging Het
Btn2a2 T C 13: 23,662,445 (GRCm39) K493E probably benign Het
Ces3a T A 8: 105,778,196 (GRCm39) D222E probably benign Het
Ckap2l A G 2: 129,127,762 (GRCm39) C139R probably benign Het
Clip4 A G 17: 72,138,257 (GRCm39) H485R probably benign Het
Cntfr T A 4: 41,663,216 (GRCm39) D197V probably benign Het
Efcab5 A G 11: 77,042,747 (GRCm39) L2P probably damaging Het
Elmo2 A G 2: 165,152,132 (GRCm39) V163A possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Flrt2 A G 12: 95,747,200 (GRCm39) T513A probably benign Het
Gm10801 GT GTTTTT 2: 98,492,844 (GRCm39) probably null Het
Hectd1 A T 12: 51,849,109 (GRCm39) F332I probably damaging Het
Helz A G 11: 107,536,946 (GRCm39) D947G probably damaging Het
Hivep2 T A 10: 14,006,766 (GRCm39) D1121E probably benign Het
Hoxa13 GG GGCG 6: 52,237,520 (GRCm39) probably null Homo
Hoxd13 A T 2: 74,499,141 (GRCm39) Y163F probably damaging Het
Immt C A 6: 71,829,768 (GRCm39) P158Q probably null Het
Kcnh5 A G 12: 75,177,681 (GRCm39) S142P possibly damaging Het
Lnpep T G 17: 17,758,956 (GRCm39) H796P probably benign Het
Mmp25 A G 17: 23,863,734 (GRCm39) L32P probably benign Het
Myo15b A G 11: 115,772,127 (GRCm39) D299G probably damaging Het
Myo18b T C 5: 112,937,908 (GRCm39) E1739G probably damaging Het
Or8b44 T A 9: 38,410,294 (GRCm39) S110T probably benign Het
Parp9 A G 16: 35,777,195 (GRCm39) K147E probably damaging Het
Pcdha3 G T 18: 37,080,989 (GRCm39) R577L probably benign Het
Plod2 T A 9: 92,488,622 (GRCm39) I637N probably damaging Het
Polk T G 13: 96,632,005 (GRCm39) S243R probably damaging Het
Prag1 T C 8: 36,571,168 (GRCm39) S584P probably benign Het
Prex1 A T 2: 166,422,193 (GRCm39) V43E possibly damaging Het
Rdh10 T C 1: 16,201,408 (GRCm39) Y294H probably damaging Het
Rnf126 T A 10: 79,598,533 (GRCm39) I28F probably damaging Het
Sdk2 T A 11: 113,833,984 (GRCm39) H66L possibly damaging Het
Tet1 G T 10: 62,668,686 (GRCm39) P1431Q probably damaging Het
Tmco2 T A 4: 120,963,190 (GRCm39) Q103L possibly damaging Het
Ucp3 A T 7: 100,129,873 (GRCm39) R172W probably benign Het
Unc79 A T 12: 103,135,962 (GRCm39) I2270F possibly damaging Het
Other mutations in Mfhas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Mfhas1 APN 8 36,057,925 (GRCm39) missense probably benign 0.00
IGL00841:Mfhas1 APN 8 36,058,040 (GRCm39) missense probably damaging 0.97
IGL01548:Mfhas1 APN 8 36,057,613 (GRCm39) missense probably damaging 1.00
IGL02031:Mfhas1 APN 8 36,056,526 (GRCm39) missense probably damaging 0.99
IGL02093:Mfhas1 APN 8 36,056,498 (GRCm39) missense probably damaging 1.00
IGL02314:Mfhas1 APN 8 36,055,927 (GRCm39) missense probably damaging 0.98
IGL02412:Mfhas1 APN 8 36,055,969 (GRCm39) missense probably benign 0.11
IGL02638:Mfhas1 APN 8 36,058,104 (GRCm39) missense possibly damaging 0.55
IGL02663:Mfhas1 APN 8 36,057,060 (GRCm39) missense probably damaging 0.99
R0545:Mfhas1 UTSW 8 36,056,202 (GRCm39) missense probably damaging 1.00
R0619:Mfhas1 UTSW 8 36,057,829 (GRCm39) missense probably benign 0.00
R0637:Mfhas1 UTSW 8 36,057,180 (GRCm39) nonsense probably null
R1251:Mfhas1 UTSW 8 36,058,207 (GRCm39) missense probably damaging 0.97
R1829:Mfhas1 UTSW 8 36,057,402 (GRCm39) missense probably benign 0.09
R1829:Mfhas1 UTSW 8 36,057,222 (GRCm39) missense probably benign
R1839:Mfhas1 UTSW 8 36,058,012 (GRCm39) missense possibly damaging 0.95
R1934:Mfhas1 UTSW 8 36,058,251 (GRCm39) missense possibly damaging 0.52
R1937:Mfhas1 UTSW 8 36,056,799 (GRCm39) missense probably damaging 0.99
R2038:Mfhas1 UTSW 8 36,058,431 (GRCm39) missense probably damaging 1.00
R2982:Mfhas1 UTSW 8 36,058,269 (GRCm39) missense probably benign 0.07
R4566:Mfhas1 UTSW 8 36,058,203 (GRCm39) missense probably damaging 1.00
R4604:Mfhas1 UTSW 8 36,055,764 (GRCm39) missense probably benign 0.00
R4693:Mfhas1 UTSW 8 36,056,329 (GRCm39) missense probably damaging 1.00
R5205:Mfhas1 UTSW 8 36,058,161 (GRCm39) missense probably benign 0.10
R5631:Mfhas1 UTSW 8 36,055,573 (GRCm39) missense probably damaging 0.96
R5744:Mfhas1 UTSW 8 36,056,636 (GRCm39) missense probably damaging 1.00
R6580:Mfhas1 UTSW 8 36,056,419 (GRCm39) missense probably damaging 1.00
R6663:Mfhas1 UTSW 8 36,056,272 (GRCm39) missense probably damaging 1.00
R6998:Mfhas1 UTSW 8 36,058,510 (GRCm39) missense probably damaging 1.00
R7046:Mfhas1 UTSW 8 36,131,944 (GRCm39) missense probably benign 0.00
R7054:Mfhas1 UTSW 8 36,055,792 (GRCm39) missense probably benign 0.30
R7171:Mfhas1 UTSW 8 36,056,146 (GRCm39) missense probably benign 0.08
R7396:Mfhas1 UTSW 8 36,057,353 (GRCm39) missense probably damaging 0.97
R7557:Mfhas1 UTSW 8 36,056,758 (GRCm39) missense possibly damaging 0.50
R7853:Mfhas1 UTSW 8 36,057,025 (GRCm39) nonsense probably null
R7876:Mfhas1 UTSW 8 36,056,697 (GRCm39) missense probably damaging 1.00
R8815:Mfhas1 UTSW 8 36,057,394 (GRCm39) missense probably damaging 0.99
R9009:Mfhas1 UTSW 8 36,057,109 (GRCm39) missense probably damaging 1.00
R9214:Mfhas1 UTSW 8 36,057,730 (GRCm39) missense probably damaging 1.00
R9281:Mfhas1 UTSW 8 36,057,951 (GRCm39) missense probably benign 0.01
R9573:Mfhas1 UTSW 8 36,143,903 (GRCm39) missense possibly damaging 0.72
R9783:Mfhas1 UTSW 8 36,057,934 (GRCm39) missense probably damaging 1.00
X0060:Mfhas1 UTSW 8 36,055,558 (GRCm39) missense possibly damaging 0.52
Z1088:Mfhas1 UTSW 8 36,057,390 (GRCm39) missense probably benign 0.04
Z1177:Mfhas1 UTSW 8 36,057,539 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- ATCTAGCCAAGGTGGTGGATG -3'
(R):5'- TAGGAAAGAGCACTCTGGAGCC -3'

Sequencing Primer
(F):5'- CAAGGTGGTGGATGAGGCCC -3'
(R):5'- TCAGTCAGACCTGCCTGCAG -3'
Posted On 2016-10-24