Incidental Mutation 'IGL03105:Mx1'
ID418905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mx1
Ensembl Gene ENSMUSG00000000386
Gene NameMX dynamin-like GTPase 1
SynonymsMx-1, Mx, myxovirus (influenza) resistance 1 polypeptide
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03105
Quality Score
Status
Chromosome16
Chromosomal Location97447035-97462907 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 97456354 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 68 (V68I)
Ref Sequence ENSEMBL: ENSMUSP00000023655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023655] [ENSMUST00000113768] [ENSMUST00000135184] [ENSMUST00000142883] [ENSMUST00000155233] [ENSMUST00000232193] [ENSMUST00000232282]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023655
AA Change: V68I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023655
Gene: ENSMUSG00000000386
AA Change: V68I

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: V68I

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109397
Gene: ENSMUSG00000000386
AA Change: V68I

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: ENSMUST00000142883
SMART Domains Protein: ENSMUSP00000114709
Gene: ENSMUSG00000000386

DomainStartEndE-ValueType
Pfam:Dynamin_N 39 65 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155233
AA Change: V68I

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138532
Gene: ENSMUSG00000000386
AA Change: V68I

DomainStartEndE-ValueType
DYNc 12 255 3.52e-134 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231995
Predicted Effect probably benign
Transcript: ENSMUST00000232193
AA Change: V68I

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000232282
AA Change: V68I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adssl1 A G 12: 112,632,721 I129V probably benign Het
Ankrd35 A G 3: 96,684,057 H553R probably benign Het
Brca2 A G 5: 150,560,485 K2923R probably benign Het
Cadm3 A T 1: 173,345,016 L174M probably damaging Het
Car10 T C 11: 93,100,275 V17A probably benign Het
Cep290 A G 10: 100,551,824 K1956E possibly damaging Het
Cfhr1 T A 1: 139,547,827 probably benign Het
Crim1 A T 17: 78,315,750 probably benign Het
Dedd G A 1: 171,340,918 R224H probably damaging Het
F7 A T 8: 13,034,001 I229L probably null Het
Fam208a T A 14: 27,442,552 C272S probably damaging Het
Igkv17-121 A T 6: 68,037,300 Q112L probably damaging Het
Kcnk13 G A 12: 100,061,110 R148Q probably damaging Het
Klk13 T C 7: 43,721,480 L51P probably benign Het
Ldb2 A G 5: 44,799,373 S41P possibly damaging Het
Magi2 A G 5: 20,543,618 D767G probably damaging Het
Mical3 T C 6: 121,042,238 T8A probably benign Het
Mkln1 G T 6: 31,459,059 E318* probably null Het
Mylk2 T C 2: 152,917,359 V350A possibly damaging Het
Nav2 T A 7: 49,464,879 S870R probably damaging Het
Olfr19 T C 16: 16,673,526 T152A probably benign Het
Olfr66 A G 7: 103,882,132 I37T possibly damaging Het
Olfr668 A T 7: 104,925,764 probably benign Het
Olfr828 T C 9: 18,815,389 R302G probably benign Het
Onecut2 A T 18: 64,341,508 K358* probably null Het
Orai3 A G 7: 127,773,553 probably benign Het
Ppp1r32 A G 19: 10,477,020 probably benign Het
Rad54b A G 4: 11,615,569 N859S probably benign Het
Sec23b C T 2: 144,582,020 R530W probably damaging Het
Slc25a35 T C 11: 68,968,670 F3S probably damaging Het
Slc7a11 A T 3: 50,372,339 I491K possibly damaging Het
Srrt A T 5: 137,299,844 N317K possibly damaging Het
Sspo T C 6: 48,473,658 probably benign Het
Taf2 A C 15: 55,045,799 D683E probably benign Het
Tcerg1l G T 7: 138,248,444 probably benign Het
Tg G T 15: 66,715,106 V1578F probably benign Het
Tmem43 G A 6: 91,480,700 G188D probably damaging Het
Tnfrsf8 T C 4: 145,298,784 Y73C probably damaging Het
Ttc21a A G 9: 119,942,576 Y147C probably benign Het
Ttn T A 2: 76,812,177 D11592V probably damaging Het
Ttn T C 2: 76,778,050 D17843G probably damaging Het
Tubgcp5 T A 7: 55,825,581 I842N probably damaging Het
Unc80 A T 1: 66,472,099 T89S probably damaging Het
Usp28 T C 9: 49,039,055 M928T probably damaging Het
Usp43 A G 11: 67,879,976 S611P possibly damaging Het
Utp20 A G 10: 88,791,096 V1000A probably benign Het
Zfp263 T C 16: 3,748,960 C380R probably damaging Het
Zfyve1 A C 12: 83,558,639 C14G probably damaging Het
Other mutations in Mx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Mx1 APN 16 97457432 missense probably damaging 1.00
IGL01328:Mx1 APN 16 97455632 missense probably damaging 0.99
PIT4585001:Mx1 UTSW 16 97456254 missense probably benign 0.07
R0003:Mx1 UTSW 16 97451588 intron probably benign
R1597:Mx1 UTSW 16 97455129 missense probably damaging 1.00
R1753:Mx1 UTSW 16 97454158 missense probably damaging 1.00
R1780:Mx1 UTSW 16 97451512 makesense probably null
R1826:Mx1 UTSW 16 97455637 missense possibly damaging 0.95
R1851:Mx1 UTSW 16 97448203 missense probably damaging 1.00
R1852:Mx1 UTSW 16 97448203 missense probably damaging 1.00
R2059:Mx1 UTSW 16 97454179 nonsense probably null
R2223:Mx1 UTSW 16 97455232 splice site probably benign
R3441:Mx1 UTSW 16 97456231 missense probably damaging 1.00
R3442:Mx1 UTSW 16 97456231 missense probably damaging 1.00
R3782:Mx1 UTSW 16 97451995 missense possibly damaging 0.75
R4460:Mx1 UTSW 16 97454081 missense probably damaging 0.99
R4659:Mx1 UTSW 16 97455239 splice site probably null
R5116:Mx1 UTSW 16 97457479 missense possibly damaging 0.67
R5186:Mx1 UTSW 16 97455494 missense probably benign 0.09
R5215:Mx1 UTSW 16 97448360 missense possibly damaging 0.72
R5249:Mx1 UTSW 16 97457428 missense probably damaging 1.00
R5450:Mx1 UTSW 16 97454147 nonsense probably null
R5806:Mx1 UTSW 16 97454151 missense possibly damaging 0.81
R5894:Mx1 UTSW 16 97454206 missense probably damaging 1.00
R5916:Mx1 UTSW 16 97451733 missense probably benign 0.00
R5981:Mx1 UTSW 16 97454205 missense probably damaging 1.00
R7111:Mx1 UTSW 16 97455176 missense probably damaging 0.99
R7207:Mx1 UTSW 16 97452198 missense probably benign
R7238:Mx1 UTSW 16 97448296 missense unknown
R7318:Mx1 UTSW 16 97452086 missense probably benign 0.06
R7699:Mx1 UTSW 16 97448321 missense unknown
R7856:Mx1 UTSW 16 97455535 missense probably damaging 1.00
R8012:Mx1 UTSW 16 97457372 missense probably damaging 1.00
R8444:Mx1 UTSW 16 97451487 nonsense probably null
R8560:Mx1 UTSW 16 97452787 missense probably damaging 0.99
R8750:Mx1 UTSW 16 97451717 missense probably damaging 1.00
X0028:Mx1 UTSW 16 97450421 nonsense probably null
Posted On2016-08-02