Mutagenetix > Incidental Mutations

Incidental Mutation 'R1753:Mx1'

193791

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

039785-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97447035-97462907 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97454158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 232 (N232Y)

Ref Sequence

ENSEMBL: ENSMUSP00000156203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023655] [ENSMUST00000113768] [ENSMUST00000135184] [ENSMUST00000142883] [ENSMUST00000155233] [ENSMUST00000232193] [ENSMUST00000232282]

AlphaFold

Q3UD61

Predicted Effect

probably damaging
Transcript: ENSMUST00000023655
AA Change: N232Y

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

SMART Domains

Protein: ENSMUSP00000023655
Gene: ENSMUSG00000000386
AA Change: N232Y

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

probably benign
Transcript: ENSMUST00000113768

SMART Domains

Protein: ENSMUSP00000109397
Gene: ENSMUSG00000000386

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 damaging
Transcript: ENSMUST00000135184
AA Change: N88Y

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

SMART Domains

Protein: ENSMUSP00000138813
Gene: ENSMUSG00000000386
AA Change: N88Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142883

SMART Domains

Protein: ENSMUSP00000114709
Gene: ENSMUSG00000000386

Domain	Start	End	E-Value	Type
Pfam:Dynamin_N	39	65	1.1e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155233
AA Change: N232Y

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

SMART Domains

Protein: ENSMUSP00000138532
Gene: ENSMUSG00000000386
AA Change: N232Y

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232282
AA Change: N232Y

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,973,716	F409I	probably benign	Het
Adamts19	A	C	18: 59,007,372	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,899,352	S306G	probably damaging	Het
Adamts8	T	G	9: 30,954,614	I486S	probably benign	Het
Adgrg5	T	C	8: 94,942,052	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,577,135	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241		probably null	Het
Arhgap31	A	G	16: 38,601,612	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,094,833	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,302,354	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,866,561	E637K	probably benign	Het
Cd2	A	T	3: 101,287,499	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,764,688	Y157*	probably null	Het
Celsr3	G	T	9: 108,831,857	V1301F	probably damaging	Het
Cep164	C	T	9: 45,792,937	G961S	probably damaging	Het
Cep290	T	C	10: 100,513,981	V630A	probably benign	Het
Chd5	C	T	4: 152,378,815	S1451F	probably damaging	Het
Cldn23	A	C	8: 35,825,986	L116R	possibly damaging	Het
Cngb1	A	T	8: 95,297,773		probably benign	Het
Cpb1	G	T	3: 20,266,241	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,260,100	F261S	probably damaging	Het
Crlf3	A	C	11: 80,057,872	V249G	probably damaging	Het
Csmd1	A	T	8: 16,157,120	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,083,685	P207Q	possibly damaging	Het
Cym	A	C	3: 107,213,425	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,121,432		probably null	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Dnah7b	T	C	1: 46,322,335	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,873,342	M181L	possibly damaging	Het
Duox1	T	A	2: 122,333,429	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,192,940	S13T	probably benign	Het
Ercc6	T	C	14: 32,576,999	V1448A	probably benign	Het
Esp24	A	G	17: 39,040,002	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,701,461	M338K	probably benign	Het
Fgfbp1	A	C	5: 43,979,923	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,940,616	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,346,578	C372W	probably damaging	Het
Grn	T	G	11: 102,433,267	C61G	probably damaging	Het
Herc1	T	G	9: 66,469,010	C3371G	probably damaging	Het
Herc1	T	C	9: 66,502,084		probably null	Het
Hmcn1	C	T	1: 150,586,468	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,456,635	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,593,860	H399L	probably benign	Het
Irx3	G	A	8: 91,800,734	P114L	probably damaging	Het
Kat6a	T	A	8: 22,935,797	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,843,482		probably benign	Het
Kng1	A	T	16: 23,079,119	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,496,489	Q1746L	possibly damaging	Het
Lrrc29	A	T	8: 105,313,192	V517E	probably damaging	Het
Lrrc63	A	T	14: 75,086,344		probably null	Het
Mad2l1	T	A	6: 66,539,813	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,822,680	M978T	probably benign	Het
Mon1a	A	C	9: 107,901,363	N262T	probably damaging	Het
Mpo	A	G	11: 87,795,881	N85D	probably benign	Het
Mpp4	T	C	1: 59,144,810	D244G	probably null	Het
Mstn	A	G	1: 53,066,558	Y353C	probably damaging	Het
Mycs	T	C	X: 5,468,103	R308G	probably benign	Het
Myh11	A	T	16: 14,277,870	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,433,412	Q169L	probably null	Het
Nr5a1	G	T	2: 38,708,419	T122N	possibly damaging	Het
Nras	A	G	3: 103,058,979	T20A	probably damaging	Het
Obp2b	T	A	2: 25,738,640		probably null	Het
Olfr1109	T	C	2: 87,093,227	T57A	probably damaging	Het
Olfr1143	T	A	2: 87,802,762	F124L	probably benign	Het
Olfr1410	G	A	1: 92,608,400	V188M	probably benign	Het
Olfr365	A	G	2: 37,201,427	Y62C	probably damaging	Het
Olfr577	T	C	7: 102,973,056	N312S	probably benign	Het
Pcdh17	A	T	14: 84,477,654	T920S	probably benign	Het
Pcdh9	T	C	14: 93,887,225	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,436,671	T290I	probably damaging	Het
Pde6b	C	A	5: 108,388,691	C84*	probably null	Het
Pex1	A	T	5: 3,630,044	N914I	probably damaging	Het
Pign	A	G	1: 105,589,317	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,533,905	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,342,631	K489E	probably damaging	Het
Prob1	T	C	18: 35,653,252	T650A	possibly damaging	Het
Radil	T	C	5: 142,495,336	Y572C	probably damaging	Het
Rapgef2	A	G	3: 79,088,791	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,682,817		probably null	Het
Rnaset2b	G	A	17: 6,981,107		probably null	Het
S1pr1	A	G	3: 115,711,938	S336P	probably benign	Het
Slc24a5	A	G	2: 125,083,195	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,061,391	I184F	probably benign	Het
Slc35a3	A	G	3: 116,677,948	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,677,202	H211R	probably damaging	Het
Slu7	A	G	11: 43,439,268	N174S	probably benign	Het
Smarcd3	A	T	5: 24,595,822	Y131*	probably null	Het
Syne1	A	G	10: 5,367,621	M491T	probably benign	Het
Tars	G	A	15: 11,394,243	Q103*	probably null	Het
Tmem132d	C	A	5: 127,789,855	E660D	probably benign	Het
Ttn	T	A	2: 76,752,261	M22763L	probably benign	Het
Ttn	T	C	2: 76,812,972	E13201G	probably damaging	Het
Ttn	T	C	2: 76,745,043	T16842A	probably damaging	Het
Ubp1	A	T	9: 113,955,969	I117L	possibly damaging	Het
Usp24	T	A	4: 106,377,559	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,754,197	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,928,245	Q290*	probably null	Het
Vnn3	T	C	10: 23,865,820	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,305,744	T46A	probably damaging	Het
Wdr48	G	T	9: 119,924,247	E625*	probably null	Het
Wdr6	C	T	9: 108,575,164	V507I	probably damaging	Het
Zp2	A	T	7: 120,138,105	W287R	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
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
R9245:Mx1	UTSW	16	97451553	critical splice acceptor site	probably null
X0028:Mx1	UTSW	16	97450421	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGATGGAAGGAAGCCACACTGTTC -3'
(R):5'- ATGGGAAGAAGCCTTGTGCTGCTG -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- TTGACCAAGCCTGATCTGGT -3'

Posted On

2014-05-23