Incidental Mutation 'R3782:Mx1'
ID 272098
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 040751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3782 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 97248235-97264106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97253195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 380 (D380G)
Ref Sequence ENSEMBL: ENSMUSP00000023655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023655] [ENSMUST00000113768] [ENSMUST00000135184] [ENSMUST00000155233] [ENSMUST00000232282] [ENSMUST00000232193]
AlphaFold Q3UD61
Predicted Effect possibly damaging
Transcript: ENSMUST00000023655
AA Change: D380G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023655
Gene: ENSMUSG00000000386
AA Change: D380G

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 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 probably benign
Transcript: ENSMUST00000232282
Predicted Effect probably benign
Transcript: ENSMUST00000232193
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp2 T A 5: 143,843,517 (GRCm39) K24N possibly damaging Het
Atf6 A T 1: 170,622,336 (GRCm39) Y428* probably null Het
BC034090 T C 1: 155,102,024 (GRCm39) E80G probably damaging Het
Calcr T C 6: 3,700,193 (GRCm39) T263A possibly damaging Het
Cdh20 T A 1: 109,976,734 (GRCm39) V133E probably benign Het
Cpsf3 A C 12: 21,350,067 (GRCm39) E262A possibly damaging Het
Ddx5 T C 11: 106,675,346 (GRCm39) I330V probably benign Het
Dlg5 A G 14: 24,240,378 (GRCm39) probably benign Het
Enam A T 5: 88,650,674 (GRCm39) S653C probably damaging Het
Fndc3b A T 3: 27,514,135 (GRCm39) V682D possibly damaging Het
Guf1 A T 5: 69,724,495 (GRCm39) M396L probably benign Het
H2-Q10 A G 17: 35,781,915 (GRCm39) Y179C possibly damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hpgd G A 8: 56,751,453 (GRCm39) V94M probably damaging Het
Ktn1 G A 14: 47,943,860 (GRCm39) probably benign Het
Lama5 T G 2: 179,836,356 (GRCm39) H1165P possibly damaging Het
Lrrfip1 A G 1: 91,039,911 (GRCm39) T205A possibly damaging Het
Mcm7 G A 5: 138,162,998 (GRCm39) R385W probably damaging Het
Mgat4c A G 10: 102,224,782 (GRCm39) E332G probably benign Het
Mpp7 A T 18: 7,351,085 (GRCm39) H537Q probably damaging Het
Nckap5 T A 1: 125,952,811 (GRCm39) Q1183L possibly damaging Het
Nkx1-2 A G 7: 132,199,161 (GRCm39) V200A probably damaging Het
Nr3c2 T A 8: 77,812,313 (GRCm39) probably null Het
Nsmce1 C T 7: 125,085,549 (GRCm39) V47I probably benign Het
Nudt3 A G 17: 27,799,782 (GRCm39) S134P possibly damaging Het
Or1e26 C A 11: 73,479,839 (GRCm39) G242C probably damaging Het
Or1e26 A T 11: 73,480,194 (GRCm39) Y123* probably null Het
Or5g9 G A 2: 85,552,040 (GRCm39) C97Y probably damaging Het
Pcnx1 A G 12: 82,042,892 (GRCm39) T2325A probably benign Het
Phactr4 A T 4: 132,095,178 (GRCm39) probably null Het
Rnf7l T A 10: 63,257,472 (GRCm39) H16L probably benign Het
Serpinb6d T A 13: 33,848,097 (GRCm39) D20E probably benign Het
Spta1 A T 1: 174,035,880 (GRCm39) Y1062F probably damaging Het
Ssc5d A G 7: 4,945,790 (GRCm39) T941A probably benign Het
Taf11 A G 17: 28,122,167 (GRCm39) probably benign Het
Tax1bp1 A G 6: 52,716,533 (GRCm39) H286R probably damaging Het
Tmem62 T A 2: 120,807,948 (GRCm39) W57R probably damaging Het
Vmn2r111 T C 17: 22,790,301 (GRCm39) Y235C possibly damaging Het
Vmn2r22 T A 6: 123,627,591 (GRCm39) K2* probably null Het
Vmn2r74 A G 7: 85,605,322 (GRCm39) V442A probably benign 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
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
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'- TGCCCTGTATCCTAACCAGC -3'
(R):5'- AGTGGTGACCCTCAGAGTAG -3'

Sequencing Primer
(F):5'- TGTATCCTAACCAGCTTTCAAGG -3'
(R):5'- TAGGTCAGCTGGCAGCCATTAG -3'
Posted On 2015-03-25