Incidental Mutation 'R7046:Mfhas1'
ID 547321
Institutional Source Beutler Lab
Gene Symbol Mfhas1
Ensembl Gene ENSMUSG00000070056
Gene Name malignant fibrous histiocytoma amplified sequence 1
Synonyms D8Ertd91e, 2310066G09Rik
MMRRC Submission 045144-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R7046 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 36054952-36146603 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36131944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1037 (S1037P)
Ref Sequence ENSEMBL: ENSMUSP00000044135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037666]
AlphaFold Q3V1N1
Predicted Effect probably benign
Transcript: ENSMUST00000037666
AA Change: S1037P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000044135
Gene: ENSMUSG00000070056
AA Change: S1037P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,772,364 (GRCm39) Y805C probably damaging Het
Aoc1l3 T A 6: 48,964,512 (GRCm39) D173E probably benign Het
Cabp7 T A 11: 4,688,886 (GRCm39) I195F probably damaging Het
Camsap1 T C 2: 25,835,201 (GRCm39) N317S probably damaging Het
Ccdc127 T G 13: 74,500,994 (GRCm39) L4V probably damaging Het
Ccdc7a T C 8: 129,774,100 (GRCm39) E145G probably damaging Het
Cdh10 T A 15: 19,013,287 (GRCm39) V629D probably damaging Het
Cdh23 A C 10: 60,214,530 (GRCm39) L1497R probably damaging Het
Chsy3 A G 18: 59,542,875 (GRCm39) K671R probably benign Het
Clca4b T C 3: 144,621,367 (GRCm39) Y569C probably damaging Het
Cnga1 T C 5: 72,786,696 (GRCm39) probably benign Het
Cyp51 T A 5: 4,150,188 (GRCm39) E178D probably damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnah14 G T 1: 181,450,568 (GRCm39) C727F probably benign Het
Egf A T 3: 129,548,607 (GRCm39) W3R unknown Het
Egfem1 G A 3: 29,136,364 (GRCm39) probably null Het
Epb41l1 G T 2: 156,368,812 (GRCm39) V682L possibly damaging Het
Etv1 A G 12: 38,834,369 (GRCm39) probably null Het
Faap100 A G 11: 120,268,200 (GRCm39) F191S possibly damaging Het
Fmo1 T A 1: 162,667,263 (GRCm39) D184V possibly damaging Het
Ghrl A G 6: 113,696,344 (GRCm39) L16P probably damaging Het
Gria4 T A 9: 4,420,278 (GRCm39) L861F probably damaging Het
Gsr T A 8: 34,185,090 (GRCm39) M428K probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Kbtbd12 A G 6: 88,595,497 (GRCm39) M111T possibly damaging Het
Krtap21-1 G T 16: 89,200,623 (GRCm39) Y6* probably null Het
Lin9 A G 1: 180,494,935 (GRCm39) D219G probably damaging Het
Lrrc38 A G 4: 143,076,739 (GRCm39) M1V probably null Het
Macc1 T G 12: 119,410,773 (GRCm39) F514V probably benign Het
Madcam1 C T 10: 79,504,139 (GRCm39) R242C probably benign Het
Micall2 C T 5: 139,694,699 (GRCm39) probably benign Het
Mtr C A 13: 12,205,095 (GRCm39) A1122S possibly damaging Het
Muc6 T A 7: 141,226,456 (GRCm39) probably benign Het
Myh15 T A 16: 48,929,662 (GRCm39) C529* probably null Het
Napsa T C 7: 44,234,509 (GRCm39) V247A probably damaging Het
Nr2c2 A G 6: 92,135,338 (GRCm39) T309A probably damaging Het
Or1e26 A T 11: 73,480,558 (GRCm39) I2K probably benign Het
Or1q1 T A 2: 36,887,173 (GRCm39) V117E probably benign Het
Or2n1b A T 17: 38,459,691 (GRCm39) M71L probably benign Het
Osgepl1 A T 1: 53,360,710 (GRCm39) I384F possibly damaging Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pds5b A G 5: 150,673,385 (GRCm39) Y481C probably damaging Het
Pdzrn4 T A 15: 92,668,303 (GRCm39) Y818* probably null Het
Pin1rt1 T C 2: 104,544,767 (GRCm39) S122G probably benign Het
Pkdcc A T 17: 83,531,687 (GRCm39) Y487F probably damaging Het
Plxna4 C T 6: 32,493,440 (GRCm39) C392Y probably damaging Het
Psd4 T G 2: 24,284,985 (GRCm39) M283R probably benign Het
Ralgds G T 2: 28,430,741 (GRCm39) G68W probably damaging Het
Rmdn2 T A 17: 79,928,808 (GRCm39) I20N probably damaging Het
Sestd1 A G 2: 77,022,910 (GRCm39) V486A probably benign Het
Skic8 T A 9: 54,626,539 (GRCm39) D275V probably damaging Het
Spmap2 G T 10: 79,422,796 (GRCm39) D35E probably benign Het
Tango6 A G 8: 107,533,748 (GRCm39) H958R possibly damaging Het
Taok3 C T 5: 117,411,771 (GRCm39) R857C probably damaging Het
Tasor A T 14: 27,194,392 (GRCm39) L1197F probably damaging Het
Trio T C 15: 27,832,137 (GRCm39) E1245G probably damaging Het
Usp19 C T 9: 108,374,334 (GRCm39) H763Y possibly damaging Het
Vmn1r185 A G 7: 26,310,651 (GRCm39) S285P probably damaging Het
Vmn1r45 T G 6: 89,910,538 (GRCm39) Y144S probably benign Het
Vwa3b G A 1: 37,212,959 (GRCm39) E152K probably benign Het
Xrcc5 G A 1: 72,433,875 (GRCm39) M731I probably benign Het
Zfp619 G A 7: 39,186,787 (GRCm39) S939N possibly damaging Het
Zfp874a C A 13: 67,590,418 (GRCm39) C422F probably damaging Het
Zfp948 A G 17: 21,808,719 (GRCm39) D637G 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
R5535:Mfhas1 UTSW 8 36,057,423 (GRCm39) missense possibly damaging 0.73
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
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'- TCTGTGTAAATTAGTCCCACTCTTTGG -3'
(R):5'- TGCTATTGAGAGAAGGGCAC -3'

Sequencing Primer
(F):5'- GGGGCCTATTTCCTAATGAATTTC -3'
(R):5'- TGAGAGAAGGGCACATATTTTTG -3'
Posted On 2019-05-13