Mutagenetix > Incidental Mutation

Incidental Mutation 'R1851:Mx1'

208143

Institutional Source

Beutler Lab

Gene Symbol

Mx1

Ensembl Gene

ENSMUSG00000000386

Gene Name

MX dynamin-like GTPase 1

Synonyms

Mx-1, Mx, myxovirus (influenza) resistance 1 polypeptide

MMRRC Submission

039875-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1851 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97447035-97462907 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97448203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 608 (L608Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023655 (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: L608Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023655
Gene: ENSMUSG00000000386
AA Change: L608Q

Domain	Start	End	E-Value	Type
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: L378Q

SMART Domains

Protein: ENSMUSP00000109397
Gene: ENSMUSG00000000386
AA Change: L378Q

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
DYNc	2	111	2.62e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155233

SMART Domains

Protein: ENSMUSP00000138532
Gene: ENSMUSG00000000386

Domain	Start	End	E-Value	Type
DYNc	12	255	3.52e-134	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231995

Predicted Effect

unknown
Transcript: ENSMUST00000232193
AA Change: L280Q

Predicted Effect

probably benign
Transcript: ENSMUST00000232282

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	A	G	12: 18,533,686	E225G	possibly damaging	Het
Abcb7	T	C	X: 104,305,399	M153V	probably benign	Het
Abi1	A	T	2: 22,950,264	V329D	possibly damaging	Het
Ablim3	G	A	18: 61,849,395	H160Y	probably benign	Het
Acox3	A	T	5: 35,609,062	D624V	possibly damaging	Het
Adam6b	A	G	12: 113,491,822	D753G	probably benign	Het
Ago1	C	A	4: 126,439,995	R771L	probably benign	Het
Aktip	A	G	8: 91,125,877	V217A	possibly damaging	Het
Ankk1	A	C	9: 49,415,850	H676Q	probably benign	Het
Arl1	G	C	10: 88,733,546		probably benign	Het
Asxl3	T	A	18: 22,517,739	D928E	probably damaging	Het
AW209491	T	C	13: 14,636,733	V57A	possibly damaging	Het
B3galt4	G	T	17: 33,950,911	Q118K	probably benign	Het
Ccdc187	A	T	2: 26,276,068	M783K	probably benign	Het
Cdon	T	G	9: 35,483,158	M900R	probably damaging	Het
Ceacam5	G	A	7: 17,714,910	W67*	probably null	Het
Chd5	A	G	4: 152,378,270	S1356G	probably damaging	Het
Chil3	C	T	3: 106,148,801		probably null	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Cntn1	C	T	15: 92,305,140	R768C	probably damaging	Het
Col6a3	T	A	1: 90,807,534	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 116,478,061	L223*	probably null	Het
Cpz	C	A	5: 35,502,558	R581L	possibly damaging	Het
Cxcr2	A	G	1: 74,159,279	I311V	probably benign	Het
Cym	T	A	3: 107,218,714	I78F	probably benign	Het
Defb8	A	T	8: 19,445,883	S54T	probably benign	Het
Dennd4a	A	G	9: 64,862,030	T433A	probably damaging	Het
Dhx29	A	G	13: 112,948,281	T678A	probably damaging	Het
Dspp	T	C	5: 104,174,085		probably null	Het
Enkur	G	T	2: 21,189,177	A195E	probably benign	Het
Ero1lb	T	A	13: 12,604,403	S429T	possibly damaging	Het
Fh1	A	G	1: 175,607,886	S344P	probably damaging	Het
Flnc	G	T	6: 29,443,479	G553V	probably damaging	Het
Fmo1	A	T	1: 162,829,985	L529*	probably null	Het
Frem1	C	A	4: 82,950,500	V1415F	probably damaging	Het
Gatb	T	G	3: 85,618,877	L354R	probably damaging	Het
Gdpgp1	A	T	7: 80,238,601	N127Y	probably damaging	Het
Gm11492	T	A	11: 87,568,915	D496E	probably damaging	Het
Gm13084	T	C	4: 143,812,826	I32M	probably benign	Het
Gm13212	T	G	4: 145,624,250		probably benign	Het
Gpat2	A	G	2: 127,434,819	T648A	possibly damaging	Het
Grk6	C	T	13: 55,451,778	R225*	probably null	Het
Hells	A	T	19: 38,959,676	Q682L	probably null	Het
Hspa5	T	A	2: 34,774,678	N381K	possibly damaging	Het
Ighmbp2	T	C	19: 3,262,075	N893S	probably benign	Het
Ipo11	A	T	13: 106,812,257	V914E	possibly damaging	Het
Lars	T	C	18: 42,212,608	N1001S	probably benign	Het
Lats2	A	G	14: 57,697,455	L606P	probably damaging	Het
Map4k1	T	C	7: 28,999,784	Y521H	probably benign	Het
March11	T	A	15: 26,387,830	V257E	probably damaging	Het
Med23	G	A	10: 24,910,870		probably null	Het
Meltf	A	G	16: 31,896,577	D696G	probably benign	Het
Ms4a7	T	A	19: 11,324,424	M212L	probably benign	Het
Myh1	T	C	11: 67,204,398	Y195H	probably damaging	Het
Napb	G	T	2: 148,706,989	H110Q	probably benign	Het
Ngly1	C	T	14: 16,260,585	P90S	probably damaging	Het
Nlrp1b	T	A	11: 71,182,616	I134L	possibly damaging	Het
Nup210	A	G	6: 91,016,054	L1017P	probably damaging	Het
Nup85	T	A	11: 115,581,817	I233N	probably damaging	Het
Obsl1	A	G	1: 75,492,893	V965A	probably damaging	Het
Olfr1259	A	C	2: 89,943,814	Y100*	probably null	Het
Olfr1310	T	C	2: 112,008,691	D165G	probably benign	Het
Olfr787	T	C	10: 129,463,501	L275P	probably damaging	Het
Pak1ip1	A	G	13: 41,011,232	T264A	possibly damaging	Het
Pard6g	C	T	18: 80,117,142	R157C	probably damaging	Het
Pcdhb7	A	T	18: 37,342,578	T256S	possibly damaging	Het
Phrf1	T	C	7: 141,240,918	F153L	probably damaging	Het
Pigw	A	T	11: 84,878,048	F152I	probably damaging	Het
Pip4k2c	A	G	10: 127,200,875	S222P	probably damaging	Het
Pjvk	A	G	2: 76,657,431		probably null	Het
Plxnd1	C	T	6: 115,963,914	V1355M	probably damaging	Het
Prss22	G	A	17: 23,996,314	P163S	probably damaging	Het
Prune2	A	G	19: 17,199,139	I154V	probably damaging	Het
Rapgef6	T	A	11: 54,642,811	D362E	probably benign	Het
Retreg2	A	G	1: 75,146,675	K416E	probably benign	Het
Scn7a	T	C	2: 66,680,291	I1256V	probably benign	Het
Sema4d	A	G	13: 51,711,222	V362A	possibly damaging	Het
Slc25a34	G	A	4: 141,622,268	T192I	probably benign	Het
Tacc3	G	T	5: 33,668,200	V425L	probably benign	Het
Tfdp2	A	T	9: 96,297,709	K125I	probably damaging	Het
Tjp2	C	T	19: 24,099,535	R952Q	possibly damaging	Het
Tk2	G	T	8: 104,248,445	S30*	probably null	Het
Tmem74	A	T	15: 43,867,163	D161E	probably benign	Het
Tmprss9	G	A	10: 80,892,285	V570M	probably damaging	Het
Tnk2	C	A	16: 32,679,462	P26Q	probably damaging	Het
Tnpo2	T	G	8: 85,051,772	V610G	probably damaging	Het
Trim37	T	C	11: 87,218,306	F953S	probably damaging	Het
U2surp	T	A	9: 95,482,097	K589*	probably null	Het
Usp2	G	A	9: 44,075,966	R187H	probably benign	Het
Vmn2r1	C	T	3: 64,101,505	T535I	probably benign	Het
Wdr20rt	T	A	12: 65,227,151	S463T	possibly damaging	Het
Zbtb25	C	A	12: 76,349,714	G245W	probably damaging	Het
Zc3h14	T	A	12: 98,760,354	L27*	probably null	Het
Zfp2	T	C	11: 50,901,088	K43E	probably benign	Het
Zfp654	A	G	16: 64,785,128	Y904H	probably benign	Het

Other mutations in Mx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Mx1	APN	16	97457432	missense	probably damaging	1.00
IGL01328:Mx1	APN	16	97455632	missense	probably damaging	0.99
IGL03105:Mx1	APN	16	97456354	missense	possibly damaging	0.94
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
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
R9245:Mx1	UTSW	16	97451553	critical splice acceptor site	probably null
R9642:Mx1	UTSW	16	97455176	missense	probably damaging	0.99
R9645:Mx1	UTSW	16	97452209	missense	probably benign	0.01
R9797:Mx1	UTSW	16	97451693	missense	probably benign	0.01
X0028:Mx1	UTSW	16	97450421	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAAAGGGCTTGCTTGCTTC -3'
(R):5'- CTGGGACTCATAGGAGATCTTTC -3'

Sequencing Primer
(F):5'- GCTTGCTTCCACAGTCTAAAGG -3'
(R):5'- TCTTACTTCCAGGAGTGCAGACG -3'

Posted On

2014-06-23