Incidental Mutation 'R1780:Mx1'
ID 197486
Institutional Source Beutler Lab
Gene Symbol Mx1
Ensembl Gene ENSMUSG00000000386
Gene Name MX dynamin-like GTPase 1
Synonyms Mx-1, myxovirus (influenza) resistance 1 polypeptide, Mx
MMRRC Submission 039811-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1780 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 97248235-97264106 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 97252712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 289 (*289W)
Ref Sequence ENSEMBL: ENSMUSP00000156203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023655] [ENSMUST00000113768] [ENSMUST00000135184] [ENSMUST00000155233] [ENSMUST00000232193] [ENSMUST00000232282]
AlphaFold Q3UD61
Predicted Effect probably benign
Transcript: ENSMUST00000023655
AA Change: D453G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023655
Gene: ENSMUSG00000000386
AA Change: D453G

DomainStartEndE-ValueType
DYNc 12 255 3.52e-134 SMART
low complexity region 309 325 N/A INTRINSIC
Pfam:Dynamin_M 428 509 8.1e-12 PFAM
GED 534 625 5.58e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113768
AA Change: D223G

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109397
Gene: ENSMUSG00000000386
AA Change: D223G

DomainStartEndE-ValueType
DYNc 12 241 1.34e-98 SMART
low complexity region 279 289 N/A INTRINSIC
GED 304 395 5.58e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135184
SMART Domains Protein: ENSMUSP00000138813
Gene: ENSMUSG00000000386

DomainStartEndE-ValueType
DYNc 2 111 2.62e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155233
SMART Domains Protein: ENSMUSP00000138532
Gene: ENSMUSG00000000386

DomainStartEndE-ValueType
DYNc 12 255 3.52e-134 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231995
Predicted Effect possibly damaging
Transcript: ENSMUST00000232193
AA Change: D125G

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably null
Transcript: ENSMUST00000232282
AA Change: *289W
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency 98% (80/82)
MGI Phenotype FUNCTION: This gene encodes a member of the Mx protein family of large GTPases, and functions in the innate immunity system. Interferon alpha/beta treatment or viral infection induces expression of this protein, which subsequently accumulates in the cytoplasm and inhibits viral replication. It has been shown to confer resistance to the influenza virus. This gene produces a functional protein in some feral mouse strains, whereas some inbred mouse strains including the strain of the reference genome, C57BL/6J, contain a deletion or a nonsense mutation that results in a non-functional gene product. [provided by RefSeq, Aug 2015]
PHENOTYPE: A2G, SL/NiA, T9 and CAST/Ei strains produce the MX1 protein (Mx1+ allele) conferring resistance to myxoviruses, whereas no protein is made by the Mx1- susceptible alleles of C57BL/6J and many other inbred strains with an exon 9-11 deletion; or CBA/J, CE/J, I/LnJ and PERA/Ei with a nonsense mutation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T C 3: 148,558,229 (GRCm39) E493G probably damaging Het
Aff3 A T 1: 38,574,783 (GRCm39) S66T probably damaging Het
Ankrd17 T A 5: 90,380,274 (GRCm39) K2470N probably damaging Het
Ap3m1 T C 14: 21,091,138 (GRCm39) T156A probably benign Het
Arhgef4 T A 1: 34,763,241 (GRCm39) S832R possibly damaging Het
Asb10 T C 5: 24,738,674 (GRCm39) D423G possibly damaging Het
Ash1l A G 3: 88,873,291 (GRCm39) T25A probably benign Het
Atp13a2 T A 4: 140,729,771 (GRCm39) L663I possibly damaging Het
Atp9b A T 18: 80,820,112 (GRCm39) Y174* probably null Het
Bche A G 3: 73,607,953 (GRCm39) I491T probably benign Het
Bckdhb T C 9: 83,835,836 (GRCm39) probably null Het
Cadps2 C T 6: 23,320,931 (GRCm39) probably null Het
Cdc42bpb A T 12: 111,289,341 (GRCm39) V468E probably damaging Het
Chrnd T C 1: 87,120,270 (GRCm39) V33A possibly damaging Het
Col6a5 A T 9: 105,814,077 (GRCm39) V645D unknown Het
Cpa1 C T 6: 30,643,007 (GRCm39) L312F probably damaging Het
Cyp2a5 A G 7: 26,541,301 (GRCm39) probably benign Het
Cyp2c39 C A 19: 39,527,295 (GRCm39) probably benign Het
Cyp2d26 T C 15: 82,678,208 (GRCm39) N56S probably damaging Het
Ddx21 A G 10: 62,429,926 (GRCm39) probably benign Het
Dnah11 A T 12: 117,991,293 (GRCm39) C2358S probably damaging Het
Entpd8 T C 2: 24,974,318 (GRCm39) S368P probably benign Het
Epg5 A T 18: 78,067,205 (GRCm39) Q2222L probably damaging Het
Ercc5 T A 1: 44,206,956 (GRCm39) V623E probably benign Het
Flg2 A G 3: 93,110,306 (GRCm39) E778G unknown Het
Gbe1 C T 16: 70,292,212 (GRCm39) R515* probably null Het
Hsd17b6 A G 10: 127,830,196 (GRCm39) probably null Het
Hyal6 C T 6: 24,734,031 (GRCm39) probably benign Het
Ifi27l2b A G 12: 103,417,578 (GRCm39) I203T probably damaging Het
Kcnk9 A C 15: 72,384,250 (GRCm39) D309E unknown Het
Lrp6 C T 6: 134,441,414 (GRCm39) R1184Q probably damaging Het
Mdn1 T C 4: 32,700,103 (GRCm39) F1399L probably damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Myo7b T C 18: 32,094,238 (GRCm39) E1970G probably damaging Het
Mypn T C 10: 62,957,743 (GRCm39) Y24C probably damaging Het
Naxe G C 3: 87,964,440 (GRCm39) P167A probably benign Het
Nmnat2 A T 1: 152,988,186 (GRCm39) K272* probably null Het
Nmnat3 C T 9: 98,236,164 (GRCm39) T19M probably damaging Het
Or4f52 T C 2: 111,062,043 (GRCm39) I32V probably benign Het
Or51b17 A T 7: 103,542,762 (GRCm39) F60Y probably damaging Het
Or51b4 A G 7: 103,530,799 (GRCm39) V217A probably benign Het
Or5b118 A G 19: 13,448,726 (GRCm39) T131A probably benign Het
Or9s27 G A 1: 92,516,111 (GRCm39) V20M probably benign Het
Pgm3 T G 9: 86,438,257 (GRCm39) E509D probably damaging Het
Phf3 A T 1: 30,851,023 (GRCm39) D1110E probably damaging Het
Pkd1 T G 17: 24,800,543 (GRCm39) S3062A probably benign Het
Pogz A T 3: 94,777,437 (GRCm39) K372N possibly damaging Het
Pou1f1 A G 16: 65,320,356 (GRCm39) Y15C probably benign Het
Ppfia2 A G 10: 106,732,368 (GRCm39) T972A possibly damaging Het
Rasip1 A G 7: 45,284,742 (GRCm39) Y703C possibly damaging Het
Recql T A 6: 142,310,324 (GRCm39) Q502L probably benign Het
Rgs9 A T 11: 109,130,325 (GRCm39) Y383* probably null Het
Rimbp3 T C 16: 17,030,496 (GRCm39) S1307P probably benign Het
Rspo1 A G 4: 124,901,538 (GRCm39) T200A probably damaging Het
Ryr3 C T 2: 112,697,637 (GRCm39) M922I probably damaging Het
Samm50 C T 15: 84,095,328 (GRCm39) A438V probably damaging Het
Sec1 A C 7: 45,328,256 (GRCm39) S264A probably benign Het
Sec31a A T 5: 100,529,195 (GRCm39) probably null Het
Slc13a3 T C 2: 165,248,619 (GRCm39) N553S unknown Het
Smg6 T A 11: 74,836,942 (GRCm39) L852Q probably damaging Het
Spata13 A G 14: 60,929,174 (GRCm39) N244S probably damaging Het
Srbd1 T C 17: 86,365,113 (GRCm39) R648G probably damaging Het
Sugct T G 13: 17,627,039 (GRCm39) probably null Het
Tmed10 A G 12: 85,401,653 (GRCm39) Y85H probably damaging Het
Trim68 A G 7: 102,333,280 (GRCm39) I134T possibly damaging Het
Trio A G 15: 27,744,124 (GRCm39) C2603R possibly damaging Het
Tspyl3 G A 2: 153,067,176 (GRCm39) R21W probably damaging Het
Ttn T C 2: 76,641,043 (GRCm39) I11863V probably null Het
Ubp1 G A 9: 113,793,647 (GRCm39) A283T possibly damaging Het
Ubtf A T 11: 102,205,744 (GRCm39) F60L probably damaging Het
Vmn1r235 T C 17: 21,481,999 (GRCm39) I108T probably benign Het
Vmn2r125 T C 4: 156,703,668 (GRCm39) S349P probably damaging Het
Vmn2r25 A G 6: 123,805,424 (GRCm39) S478P probably damaging Het
Vmn2r88 T A 14: 51,656,029 (GRCm39) V746D probably damaging Het
Zcwpw1 A G 5: 137,794,914 (GRCm39) K37E probably damaging Het
Zdhhc24 T C 19: 4,933,794 (GRCm39) S284P probably damaging Het
Zswim8 C A 14: 20,766,395 (GRCm39) H841N probably damaging Het
Other mutations in Mx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Mx1 APN 16 97,258,632 (GRCm39) missense probably damaging 1.00
IGL01328:Mx1 APN 16 97,256,832 (GRCm39) missense probably damaging 0.99
IGL03105:Mx1 APN 16 97,257,554 (GRCm39) missense possibly damaging 0.94
PIT4585001:Mx1 UTSW 16 97,257,454 (GRCm39) missense probably benign 0.07
R0003:Mx1 UTSW 16 97,252,788 (GRCm39) intron probably benign
R1597:Mx1 UTSW 16 97,256,329 (GRCm39) missense probably damaging 1.00
R1753:Mx1 UTSW 16 97,255,358 (GRCm39) missense probably damaging 1.00
R1826:Mx1 UTSW 16 97,256,837 (GRCm39) missense possibly damaging 0.95
R1851:Mx1 UTSW 16 97,249,403 (GRCm39) missense probably damaging 1.00
R1852:Mx1 UTSW 16 97,249,403 (GRCm39) missense probably damaging 1.00
R2059:Mx1 UTSW 16 97,255,379 (GRCm39) nonsense probably null
R2223:Mx1 UTSW 16 97,256,432 (GRCm39) splice site probably benign
R3441:Mx1 UTSW 16 97,257,431 (GRCm39) missense probably damaging 1.00
R3442:Mx1 UTSW 16 97,257,431 (GRCm39) missense probably damaging 1.00
R3782:Mx1 UTSW 16 97,253,195 (GRCm39) missense possibly damaging 0.75
R4460:Mx1 UTSW 16 97,255,281 (GRCm39) missense probably damaging 0.99
R4659:Mx1 UTSW 16 97,256,439 (GRCm39) splice site probably null
R5116:Mx1 UTSW 16 97,258,679 (GRCm39) missense possibly damaging 0.67
R5186:Mx1 UTSW 16 97,256,694 (GRCm39) missense probably benign 0.09
R5215:Mx1 UTSW 16 97,249,560 (GRCm39) missense possibly damaging 0.72
R5249:Mx1 UTSW 16 97,258,628 (GRCm39) missense probably damaging 1.00
R5450:Mx1 UTSW 16 97,255,347 (GRCm39) nonsense probably null
R5806:Mx1 UTSW 16 97,255,351 (GRCm39) missense possibly damaging 0.81
R5894:Mx1 UTSW 16 97,255,406 (GRCm39) missense probably damaging 1.00
R5916:Mx1 UTSW 16 97,252,933 (GRCm39) missense probably benign 0.00
R5981:Mx1 UTSW 16 97,255,405 (GRCm39) missense probably damaging 1.00
R7111:Mx1 UTSW 16 97,256,376 (GRCm39) missense probably damaging 0.99
R7207:Mx1 UTSW 16 97,253,398 (GRCm39) missense probably benign
R7238:Mx1 UTSW 16 97,249,496 (GRCm39) missense unknown
R7318:Mx1 UTSW 16 97,253,286 (GRCm39) missense probably benign 0.06
R7699:Mx1 UTSW 16 97,249,521 (GRCm39) missense unknown
R7856:Mx1 UTSW 16 97,256,735 (GRCm39) missense probably damaging 1.00
R8012:Mx1 UTSW 16 97,258,572 (GRCm39) missense probably damaging 1.00
R8444:Mx1 UTSW 16 97,252,687 (GRCm39) nonsense probably null
R8560:Mx1 UTSW 16 97,253,987 (GRCm39) missense probably damaging 0.99
R8750:Mx1 UTSW 16 97,252,917 (GRCm39) missense probably damaging 1.00
R9245:Mx1 UTSW 16 97,252,753 (GRCm39) critical splice acceptor site probably null
R9642:Mx1 UTSW 16 97,256,376 (GRCm39) missense probably damaging 0.99
R9645:Mx1 UTSW 16 97,253,409 (GRCm39) missense probably benign 0.01
R9797:Mx1 UTSW 16 97,252,893 (GRCm39) missense probably benign 0.01
X0028:Mx1 UTSW 16 97,251,621 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCATGGAAAATGCTTCTGCCTGAC -3'
(R):5'- CCCTCTGTCTTCACAAGGGGAAAAG -3'

Sequencing Primer
(F):5'- TTCTCAAACCCGTTTTAACCAGAAG -3'
(R):5'- TCTTCACAAGGGGAAAAGGAAAAC -3'
Posted On 2014-05-23