Incidental Mutation 'R2059:Mx1'
ID 228518
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 040064-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2059 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 97248235-97264106 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 97255379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 225 (K225*)
Ref Sequence ENSEMBL: ENSMUSP00000156203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023655] [ENSMUST00000113768] [ENSMUST00000135184] [ENSMUST00000142883] [ENSMUST00000155233] [ENSMUST00000232282] [ENSMUST00000232193]
AlphaFold Q3UD61
Predicted Effect probably null
Transcript: ENSMUST00000023655
AA Change: K225*
SMART Domains Protein: ENSMUSP00000023655
Gene: ENSMUSG00000000386
AA Change: K225*

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
SMART Domains Protein: ENSMUSP00000109397
Gene: ENSMUSG00000000386

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 null
Transcript: ENSMUST00000135184
AA Change: K81*
SMART Domains Protein: ENSMUSP00000138813
Gene: ENSMUSG00000000386
AA Change: K81*

DomainStartEndE-ValueType
DYNc 2 111 2.62e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142883
SMART Domains Protein: ENSMUSP00000114709
Gene: ENSMUSG00000000386

DomainStartEndE-ValueType
Pfam:Dynamin_N 39 65 1.1e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000155233
AA Change: K225*
SMART Domains Protein: ENSMUSP00000138532
Gene: ENSMUSG00000000386
AA Change: K225*

DomainStartEndE-ValueType
DYNc 12 255 3.52e-134 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231455
Predicted Effect probably null
Transcript: ENSMUST00000232282
AA Change: K225*
Predicted Effect probably benign
Transcript: ENSMUST00000232193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231461
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 99% (99/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 G A 5: 30,404,489 (GRCm39) H316Y possibly damaging Het
Adgrf5 A G 17: 43,739,477 (GRCm39) Y72C possibly damaging Het
Ak5 T A 3: 152,366,274 (GRCm39) L42F probably damaging Het
Alas1 T C 9: 106,118,489 (GRCm39) E211G probably damaging Het
Alkbh1 C T 12: 87,490,520 (GRCm39) probably benign Het
Als2cl T C 9: 110,714,506 (GRCm39) V118A probably benign Het
Ano1 G C 7: 144,165,127 (GRCm39) L641V probably damaging Het
Arfgef1 C T 1: 10,258,977 (GRCm39) probably null Het
Atf6b A T 17: 34,867,549 (GRCm39) probably null Het
Atf7ip T G 6: 136,586,346 (GRCm39) probably benign Het
Atp2b4 G T 1: 133,654,275 (GRCm39) Q777K probably benign Het
Baz2a T A 10: 127,949,447 (GRCm39) S347R probably damaging Het
C2cd3 T C 7: 100,104,700 (GRCm39) probably benign Het
Cage1 A G 13: 38,207,356 (GRCm39) V163A probably benign Het
Cdh12 T A 15: 21,583,826 (GRCm39) N555K probably benign Het
Cenpj G A 14: 56,801,412 (GRCm39) P187L possibly damaging Het
Cep112 T A 11: 108,410,087 (GRCm39) probably null Het
Cfap54 A T 10: 92,778,841 (GRCm39) probably benign Het
Cgref1 T G 5: 31,090,989 (GRCm39) D275A possibly damaging Het
Clgn A C 8: 84,126,607 (GRCm39) N103H probably benign Het
Corin A G 5: 72,473,394 (GRCm39) V905A possibly damaging Het
Csta1 A C 16: 35,942,692 (GRCm39) D72E probably benign Het
Cul5 A T 9: 53,578,456 (GRCm39) L44Q probably damaging Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Dync1i2 G A 2: 71,080,197 (GRCm39) probably null Het
Enoph1 A G 5: 100,207,078 (GRCm39) D55G probably damaging Het
Fat4 T A 3: 38,945,319 (GRCm39) M1404K possibly damaging Het
Fhip2b A G 14: 70,822,489 (GRCm39) V744A possibly damaging Het
Foxi2 G T 7: 135,012,406 (GRCm39) G98V probably damaging Het
Galr2 T C 11: 116,173,765 (GRCm39) S132P probably damaging Het
Gcm2 T C 13: 41,263,430 (GRCm39) M1V probably null Het
Gm15446 C T 5: 110,090,362 (GRCm39) H205Y probably damaging Het
Gm21775 T A Y: 10,553,910 (GRCm39) I153N probably benign Het
Grip1 A G 10: 119,874,603 (GRCm39) K789R possibly damaging Het
Gsk3b T A 16: 38,008,271 (GRCm39) D192E probably benign Het
Herc2 T A 7: 55,813,645 (GRCm39) H2625Q probably damaging Het
Hoxc9 A G 15: 102,892,555 (GRCm39) D256G probably benign Het
Il7 A T 3: 7,638,975 (GRCm39) N130K probably damaging Het
Irf2 A T 8: 47,260,380 (GRCm39) N104I probably damaging Het
Kat6a A G 8: 23,429,321 (GRCm39) N1559D possibly damaging Het
Kcnq4 G T 4: 120,555,199 (GRCm39) F661L probably benign Het
Kdm5b T A 1: 134,540,952 (GRCm39) D681E probably benign Het
Khdrbs1 T C 4: 129,619,514 (GRCm39) E209G probably damaging Het
Lama3 A T 18: 12,661,390 (GRCm39) R2116S probably damaging Het
Mir124-2hg C A 3: 17,839,877 (GRCm39) E65* probably null Het
Mphosph10 T A 7: 64,026,499 (GRCm39) L650F probably damaging Het
Mrpl48 T C 7: 100,198,540 (GRCm39) E204G probably damaging Het
Msl3l2 T A 10: 55,992,040 (GRCm39) L255Q probably damaging Het
Nf1 T C 11: 79,447,549 (GRCm39) V435A probably damaging Het
Nid1 A C 13: 13,675,058 (GRCm39) H926P probably benign Het
Nlrp9a T A 7: 26,256,787 (GRCm39) I46K possibly damaging Het
Nop2 T A 6: 125,116,823 (GRCm39) M359K probably null Het
Nox1 T C X: 132,995,993 (GRCm39) probably benign Het
Ogdhl G A 14: 32,054,841 (GRCm39) R263K probably damaging Het
Or14c40 A T 7: 86,313,591 (GRCm39) K240N probably damaging Het
Or2y16 T A 11: 49,335,278 (GRCm39) V200E probably damaging Het
Pbsn T C X: 76,891,582 (GRCm39) K72E probably damaging Het
Pde12 T C 14: 26,390,035 (GRCm39) I225V probably benign Het
Ppt2 A T 17: 34,841,818 (GRCm39) probably benign Het
Prl3a1 A G 13: 27,454,127 (GRCm39) D35G probably benign Het
Prss3b G A 6: 41,009,315 (GRCm39) T173I probably benign Het
Ptprk T A 10: 28,442,599 (GRCm39) I893N probably damaging Het
Ptprz1 T C 6: 22,986,322 (GRCm39) probably benign Het
Rab3c A G 13: 110,397,050 (GRCm39) V72A probably damaging Het
Rbms2 A G 10: 127,973,387 (GRCm39) S251P probably benign Het
Rfwd3 A G 8: 112,024,127 (GRCm39) V65A probably benign Het
Rps6kl1 T A 12: 85,186,397 (GRCm39) Y211F probably benign Het
Saal1 T C 7: 46,348,880 (GRCm39) Q317R probably damaging Het
Scg3 T C 9: 75,572,998 (GRCm39) D311G probably damaging Het
Sdk2 C A 11: 113,745,158 (GRCm39) M712I probably damaging Het
Serinc2 T G 4: 130,154,578 (GRCm39) Y158S probably damaging Het
Serpinb9c A T 13: 33,340,854 (GRCm39) C81* probably null Het
Sgpp2 T A 1: 78,393,588 (GRCm39) L197Q probably damaging Het
Shroom3 A T 5: 92,831,643 (GRCm39) T40S probably damaging Het
Sik1 A G 17: 32,067,771 (GRCm39) S435P probably benign Het
Slc7a3 A G X: 100,124,373 (GRCm39) V464A probably benign Het
Snd1 T C 6: 28,745,206 (GRCm39) F517S probably damaging Het
Spata13 A C 14: 60,997,040 (GRCm39) I1165L possibly damaging Het
St8sia5 A T 18: 77,342,459 (GRCm39) I390F probably damaging Het
Stat5b A T 11: 100,678,158 (GRCm39) S652T probably benign Het
Stom A G 2: 35,206,037 (GRCm39) S231P probably damaging Het
Sult1b1 A G 5: 87,682,892 (GRCm39) Y18H probably damaging Het
Tgm4 T C 9: 122,890,835 (GRCm39) I54T probably damaging Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tmem87a A T 2: 120,199,773 (GRCm39) I457N probably damaging Het
Trim12c A G 7: 103,997,398 (GRCm39) F53L possibly damaging Het
Ttc6 T A 12: 57,784,479 (GRCm39) D1849E probably benign Het
Ubap2l A T 3: 89,938,683 (GRCm39) probably benign Het
Ush2a T G 1: 188,113,746 (GRCm39) probably null Het
Usp17la A C 7: 104,510,378 (GRCm39) T328P probably damaging Het
Ust A G 10: 8,083,330 (GRCm39) Y349H probably damaging Het
V1rd19 A T 7: 23,703,259 (GRCm39) M242L probably benign Het
Vmn1r33 T A 6: 66,589,186 (GRCm39) M123L probably benign Het
Vps13c A T 9: 67,768,115 (GRCm39) K111N probably damaging Het
Vwa3a A G 7: 120,358,172 (GRCm39) D81G probably damaging Het
Zfp318 G A 17: 46,707,950 (GRCm39) R336Q probably damaging Het
Zfp609 A G 9: 65,611,716 (GRCm39) S416P possibly 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
R1780:Mx1 UTSW 16 97,252,712 (GRCm39) makesense probably null
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
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'- AGCATAACAGAGGCACCTG -3'
(R):5'- TAGTGACACTGTCTGCCTCAG -3'

Sequencing Primer
(F):5'- CACCTGAAGTATGAGTGATCCTTG -3'
(R):5'- CTTCCAGGTAACAGTCTATCACAGTG -3'
Posted On 2014-09-17