Mutagenetix > Incidental Mutation

Incidental Mutation 'R1826:Mx1'

206848

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

039853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97248235-97264106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97256837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 114 (N114S)

Ref Sequence

ENSEMBL: ENSMUSP00000109397 (fasta)

Gene Model

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

AlphaFold

Q3UD61

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023655
AA Change: N114S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023655
Gene: ENSMUSG00000000386
AA Change: N114S

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

possibly damaging
Transcript: ENSMUST00000113768
AA Change: N114S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109397
Gene: ENSMUSG00000000386
AA Change: N114S

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: ENSMUST00000142883

SMART Domains

Protein: ENSMUSP00000114709
Gene: ENSMUSG00000000386

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155233
AA Change: N114S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138532
Gene: ENSMUSG00000000386
AA Change: N114S

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

possibly damaging
Transcript: ENSMUST00000232282
AA Change: N114S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000232193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231995

Meta Mutation Damage Score

0.5468

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

95% (116/122)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,810,453 (GRCm39)	S917P	probably benign	Het
Acsbg1	C	T	9: 54,529,840 (GRCm39)	V256M	possibly damaging	Het
Adam34	T	A	8: 44,104,379 (GRCm39)	D422V	probably damaging	Het
Adam6a	T	A	12: 113,509,742 (GRCm39)	V705E	possibly damaging	Het
Adamts12	C	A	15: 11,071,606 (GRCm39)	P50Q	probably benign	Het
Arfgap3	C	T	15: 83,187,303 (GRCm39)		probably null	Het
Aspg	T	A	12: 112,089,852 (GRCm39)	D463E	probably damaging	Het
Atad2b	G	A	12: 5,024,094 (GRCm39)	S73N	probably benign	Het
Atp11a	T	C	8: 12,896,154 (GRCm39)	L788P	probably damaging	Het
B3gnt8	T	C	7: 25,328,188 (GRCm39)	F206S	probably damaging	Het
Baz2b	T	C	2: 59,799,077 (GRCm39)	E349G	probably benign	Het
Bmp2k	A	T	5: 97,209,261 (GRCm39)		probably benign	Het
Camta2	A	G	11: 70,574,134 (GRCm39)	F128L	probably damaging	Het
Ccdc88a	A	T	11: 29,439,637 (GRCm39)	Q30L	possibly damaging	Het
Cdh1	T	C	8: 107,392,898 (GRCm39)	M794T	probably benign	Het
Cdh5	A	G	8: 104,857,723 (GRCm39)	N383S	possibly damaging	Het
Cep85l	T	C	10: 53,224,908 (GRCm39)	D227G	possibly damaging	Het
Clec4e	A	G	6: 123,260,591 (GRCm39)	S156P	probably damaging	Het
Col10a1	G	T	10: 34,270,645 (GRCm39)	G206C	probably damaging	Het
Col4a2	T	C	8: 11,363,509 (GRCm39)		probably null	Het
Copg2	A	G	6: 30,789,777 (GRCm39)	M517T	probably benign	Het
Cyp2f2	T	A	7: 26,831,987 (GRCm39)	L414Q	probably damaging	Het
Dact1	G	A	12: 71,365,118 (GRCm39)	G596D	probably damaging	Het
Dcaf13	T	C	15: 38,982,294 (GRCm39)	C87R	probably damaging	Het
Dchs1	T	G	7: 105,406,834 (GRCm39)	T2224P	probably damaging	Het
Dnah12	A	G	14: 26,432,174 (GRCm39)	M429V	probably benign	Het
Dppa2	G	A	16: 48,137,711 (GRCm39)	R231H	probably damaging	Het
Elavl4	T	C	4: 110,108,489 (GRCm39)	D78G	probably damaging	Het
Enthd1	T	C	15: 80,358,482 (GRCm39)	E346G	probably damaging	Het
Exoc3l	A	T	8: 106,020,250 (GRCm39)	I225N	probably damaging	Het
Fasn	C	T	11: 120,699,325 (GRCm39)		probably benign	Het
Fbxl7	G	A	15: 26,552,851 (GRCm39)	R139C	possibly damaging	Het
Fbxw15	C	A	9: 109,388,782 (GRCm39)		probably null	Het
Flnc	A	G	6: 29,455,184 (GRCm39)	T1971A	probably damaging	Het
Fnip1	T	G	11: 54,356,990 (GRCm39)	V33G	probably damaging	Het
Foxn2	A	G	17: 88,794,233 (GRCm39)	E390G	possibly damaging	Het
Fry	C	T	5: 150,360,174 (GRCm39)	S1940L	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gabrd	T	C	4: 155,470,943 (GRCm39)	Y255C	probably damaging	Het
Garem1	A	T	18: 21,262,509 (GRCm39)	F768L	probably benign	Het
Gas2	T	A	7: 51,593,421 (GRCm39)	L167Q	probably damaging	Het
Gm16391	A	G	17: 76,591,418 (GRCm39)		noncoding transcript	Het
Gm1979	A	T	5: 26,206,240 (GRCm39)	N113K	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Hdac4	T	A	1: 91,912,421 (GRCm39)	N352Y	probably damaging	Het
Hdac9	A	G	12: 34,479,491 (GRCm39)		probably benign	Het
Hhipl2	G	A	1: 183,217,253 (GRCm39)	S673N	probably benign	Het
Iffo2	T	A	4: 139,341,376 (GRCm39)	S417T	probably benign	Het
Itgb5	G	T	16: 33,685,930 (GRCm39)	R90L	possibly damaging	Het
Jade1	T	G	3: 41,567,648 (GRCm39)	L572W	probably damaging	Het
Kcnh1	T	A	1: 192,095,376 (GRCm39)	M478K	possibly damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kcnq4	T	A	4: 120,561,701 (GRCm39)	H456L	probably benign	Het
Kif9	C	A	9: 110,346,701 (GRCm39)	T613K	probably benign	Het
Krt36	T	G	11: 99,993,856 (GRCm39)		probably benign	Het
Kyat3	A	T	3: 142,428,940 (GRCm39)	D89V	possibly damaging	Het
Lnpep	A	T	17: 17,783,098 (GRCm39)	F568I	probably damaging	Het
Lpl	T	C	8: 69,354,943 (GRCm39)	F444L	possibly damaging	Het
Lrp1	A	T	10: 127,389,576 (GRCm39)	V3153E	probably damaging	Het
Lrrn1	A	T	6: 107,544,529 (GRCm39)	N109I	probably benign	Het
Ltn1	A	G	16: 87,212,504 (GRCm39)	Y686H	probably damaging	Het
Mcoln2	A	C	3: 145,881,227 (GRCm39)	D166A	possibly damaging	Het
Ms4a6b	A	T	19: 11,501,298 (GRCm39)	I103F	probably damaging	Het
Mtmr10	T	G	7: 63,987,214 (GRCm39)	S585A	probably benign	Het
Mysm1	A	T	4: 94,858,923 (GRCm39)	N75K	probably benign	Het
Nkx1-1	A	G	5: 33,591,277 (GRCm39)	V15A	unknown	Het
Nlrp1a	G	A	11: 71,013,573 (GRCm39)	T559I	possibly damaging	Het
Nlrp1a	T	A	11: 70,998,806 (GRCm39)		probably benign	Het
Oas1f	A	G	5: 120,993,652 (GRCm39)	K288R	probably benign	Het
Or10q1	T	A	19: 13,726,711 (GRCm39)	D80E	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or9e1	T	A	11: 58,732,257 (GRCm39)	C106S	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pcdhb5	C	T	18: 37,454,522 (GRCm39)	R301*	probably null	Het
Phf12	T	C	11: 77,915,780 (GRCm39)		probably benign	Het
Pik3c2a	C	T	7: 115,967,352 (GRCm39)	D862N	probably benign	Het
Pkhd1l1	T	A	15: 44,366,741 (GRCm39)	L740I	possibly damaging	Het
Ppp1r9a	A	T	6: 5,111,060 (GRCm39)		probably benign	Het
Prg4	T	C	1: 150,327,760 (GRCm39)	D820G	probably benign	Het
Prmt9	C	T	8: 78,282,303 (GRCm39)	Q67*	probably null	Het
Prob1	T	C	18: 35,786,628 (GRCm39)	E542G	possibly damaging	Het
Pttg1	A	G	11: 43,311,193 (GRCm39)	V188A	probably damaging	Het
Rassf1	T	A	9: 107,435,392 (GRCm39)	L260H	probably damaging	Het
Rbm5	T	A	9: 107,619,613 (GRCm39)	Q766L	probably damaging	Het
Rbms3	T	A	9: 116,651,936 (GRCm39)	Y137F	probably damaging	Het
Rccd1	T	C	7: 79,969,966 (GRCm39)		probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Setd4	T	A	16: 93,388,187 (GRCm39)	K100*	probably null	Het
Simc1	T	A	13: 54,672,452 (GRCm39)	C267S	probably benign	Het
Slc16a1	G	T	3: 104,558,255 (GRCm39)	A91S	probably benign	Het
Slc36a1	A	G	11: 55,111,279 (GRCm39)	N133S	probably benign	Het
Ssxb16	T	A	X: 8,746,944 (GRCm39)	Y133*	probably null	Het
Svil	C	T	18: 5,063,383 (GRCm39)	P885S	probably benign	Het
Svop	A	T	5: 114,198,117 (GRCm39)		probably null	Het
Taar7d	T	C	10: 23,903,474 (GRCm39)	Y119H	probably damaging	Het
Tasor2	T	A	13: 3,631,759 (GRCm39)	N914I	probably damaging	Het
Tgfb3	T	C	12: 86,108,818 (GRCm39)	T304A	probably benign	Het
Tmem94	C	A	11: 115,684,039 (GRCm39)	C786*	probably null	Het
Tnfrsf4	T	A	4: 156,100,736 (GRCm39)		probably null	Het
Tns1	C	A	1: 73,992,793 (GRCm39)	M1I	probably null	Het
Trappc13	C	T	13: 104,306,327 (GRCm39)		probably null	Het
Trim72	T	C	7: 127,607,016 (GRCm39)	F182L	possibly damaging	Het
Ttc6	T	C	12: 57,707,033 (GRCm39)	S647P	probably benign	Het
Tulp1	A	G	17: 28,575,341 (GRCm39)	L400P	possibly damaging	Het
Vegfc	C	T	8: 54,634,347 (GRCm39)	T342M	possibly damaging	Het
Vit	T	A	17: 78,842,105 (GRCm39)	V15E	probably benign	Het
Vps13d	A	T	4: 144,881,573 (GRCm39)	M1334K	probably damaging	Het
Zfp280d	T	C	9: 72,206,062 (GRCm39)	V23A	probably damaging	Het
Zfp608	A	G	18: 55,031,648 (GRCm39)	I764T	probably benign	Het
Zfp94	T	C	7: 24,008,540 (GRCm39)	Y33C	probably damaging	Het
Zfyve26	T	A	12: 79,315,823 (GRCm39)	I1218F	probably damaging	Het

Other mutations in Mx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGCCTAGTGTGTCAGAGTAGGG -3'
(R):5'- CCTGGGAAGAGCACTATTGTG -3'

Sequencing Primer
(F):5'- TCAGAGTAGGGTCTAAAGTCTCACC -3'
(R):5'- AGTGTAGTCCCACCTCCTAAAGTG -3'

Posted On

2014-06-23