Incidental Mutation 'R7699:Mx1'
ID 647905
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 045760-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7699 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 97248235-97264106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97249521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 339 (I339F)
Ref Sequence ENSEMBL: ENSMUSP00000109397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023655] [ENSMUST00000113768] [ENSMUST00000135184] [ENSMUST00000155233] [ENSMUST00000232193] [ENSMUST00000232282]
AlphaFold Q3UD61
Predicted Effect probably damaging
Transcript: ENSMUST00000023655
AA Change: I569F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023655
Gene: ENSMUSG00000000386
AA Change: I569F

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 unknown
Transcript: ENSMUST00000113768
AA Change: I339F
SMART Domains Protein: ENSMUSP00000109397
Gene: ENSMUSG00000000386
AA Change: I339F

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 unknown
Transcript: ENSMUST00000232193
AA Change: I241F
Predicted Effect probably benign
Transcript: ENSMUST00000232282
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (74/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,070,792 (GRCm39) P638T probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bcl2l2 C T 14: 55,121,836 (GRCm39) probably benign Het
Cacna1e A T 1: 154,319,674 (GRCm39) I1404N probably damaging Het
Cdc42se1 A G 3: 95,139,908 (GRCm39) N35D probably damaging Het
Cep290 A G 10: 100,376,231 (GRCm39) S1447G probably benign Het
Chd6 T A 2: 160,867,863 (GRCm39) H436L probably benign Het
Cnbd2 T C 2: 156,217,326 (GRCm39) V605A probably benign Het
Col22a1 T A 15: 71,845,700 (GRCm39) D354V probably damaging Het
Col25a1 T A 3: 130,316,128 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,514,734 (GRCm39) M1L possibly damaging Het
Cux1 A T 5: 136,514,593 (GRCm39) probably null Het
Cylc2 T A 4: 51,229,335 (GRCm39) S226T unknown Het
Cyp4b1 T C 4: 115,499,162 (GRCm39) D68G probably benign Het
Dicer1 A C 12: 104,671,429 (GRCm39) L947R probably damaging Het
Dmp1 T C 5: 104,359,590 (GRCm39) S89P probably damaging Het
Dpf1 A G 7: 29,011,032 (GRCm39) K144E possibly damaging Het
Emc1 T A 4: 139,082,181 (GRCm39) H94Q probably benign Het
Ep300 C T 15: 81,470,594 (GRCm39) probably benign Het
Epha10 T C 4: 124,796,440 (GRCm39) I383T Het
Epo T A 5: 137,483,438 (GRCm39) E5D probably benign Het
Esp15 G A 17: 39,955,624 (GRCm39) V64I possibly damaging Het
Fbxl18 A T 5: 142,871,504 (GRCm39) V577E probably damaging Het
Fhl4 A T 10: 84,934,113 (GRCm39) C223S probably damaging Het
Fhl4 A T 10: 84,934,379 (GRCm39) I134N probably benign Het
Frmpd2 G T 14: 33,264,895 (GRCm39) M891I probably benign Het
Gk2 T C 5: 97,604,257 (GRCm39) I194V probably benign Het
Glt8d2 A C 10: 82,498,122 (GRCm39) probably null Het
Gm12886 G C 4: 121,273,876 (GRCm39) H113Q possibly damaging Het
Hycc1 A G 5: 24,120,494 (GRCm39) S345P probably damaging Het
Ighv1-36 A T 12: 114,843,646 (GRCm39) Y71* probably null Het
Il18bp A G 7: 101,666,029 (GRCm39) W50R probably damaging Het
Jmjd1c T A 10: 67,054,195 (GRCm39) I33K probably benign Het
Lama5 C T 2: 179,822,654 (GRCm39) A2833T probably damaging Het
Manea T G 4: 26,340,758 (GRCm39) N68T probably benign Het
Map1a T C 2: 121,130,201 (GRCm39) L339P probably damaging Het
Mblac1 A C 5: 138,192,919 (GRCm39) D87A probably damaging Het
Mmp24 C T 2: 155,640,096 (GRCm39) T142I probably damaging Het
Mpp2 T A 11: 101,950,261 (GRCm39) H531L probably damaging Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Naip2 G A 13: 100,296,877 (GRCm39) T1053I probably benign Het
Nckap1l A G 15: 103,371,248 (GRCm39) probably null Het
Or51f23c-ps1 A G 7: 102,431,529 (GRCm39) Y282C possibly damaging Het
Or5an1b T C 19: 12,299,841 (GRCm39) T117A probably benign Het
Otud7b T C 3: 96,063,280 (GRCm39) F840L probably damaging Het
Pdzd8 T C 19: 59,333,373 (GRCm39) Y216C probably damaging Het
Pkd1l1 T A 11: 8,915,142 (GRCm39) I133F Het
Plaur A G 7: 24,173,692 (GRCm39) N221S possibly damaging Het
Plin4 T C 17: 56,410,828 (GRCm39) T1068A probably benign Het
Plxnd1 T C 6: 115,936,755 (GRCm39) D1659G probably damaging Het
Prpf8 T A 11: 75,391,022 (GRCm39) M1357K probably benign Het
Prr36 G T 8: 4,263,989 (GRCm39) T559N unknown Het
Prss46 A G 9: 110,678,622 (GRCm39) M2V probably benign Het
Rbpms T A 8: 34,354,391 (GRCm39) E51D probably damaging Het
Rere C T 4: 150,701,555 (GRCm39) R328W Het
Retnla T A 16: 48,663,176 (GRCm39) N26K probably benign Het
Rubcnl G A 14: 75,269,404 (GRCm39) V21I probably benign Het
Safb T A 17: 56,908,504 (GRCm39) S598R unknown Het
Sertad4 A G 1: 192,529,175 (GRCm39) S214P possibly damaging Het
Sin3a C T 9: 57,017,938 (GRCm39) Q786* probably null Het
Slc8a3 A C 12: 81,361,247 (GRCm39) L524W probably damaging Het
Sp3 T C 2: 72,801,573 (GRCm39) T191A probably benign Het
Sp9 T C 2: 73,103,724 (GRCm39) S93P probably damaging Het
Tbrg1 A C 9: 37,560,771 (GRCm39) H368Q probably benign Het
Tinagl1 T G 4: 130,061,832 (GRCm39) Q198H probably benign Het
Usp19 C T 9: 108,373,371 (GRCm39) R648* probably null Het
Vmn2r124 A G 17: 18,293,985 (GRCm39) M691V probably benign Het
Vmn2r2 T A 3: 64,024,536 (GRCm39) M682L possibly damaging Het
Vps13d T A 4: 144,811,975 (GRCm39) H3344L Het
Vwa3a G A 7: 120,351,841 (GRCm39) G35E probably damaging Het
Zfhx3 A G 8: 109,677,754 (GRCm39) S2935G probably benign Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp758 C A 17: 22,594,646 (GRCm39) Y377* probably null Het
Zfp952 A G 17: 33,220,983 (GRCm39) K67R 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
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
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'- AGGATCATTGCACAGCGACC -3'
(R):5'- TTGAGACTGGGCTAGAATCATGC -3'

Sequencing Primer
(F):5'- CACATAGCTAGCCTGGTTAATCGG -3'
(R):5'- ACTGGGCTAGAATCATGCATCTG -3'
Posted On 2020-09-02