Incidental Mutation 'R8012:Mx1'
| ID |
616966 |
| 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 |
046052-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8012 (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 97258572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 42
(I42F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109397
(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: I42F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023655
Gene: ENSMUSG00000000386
AA Change: I42F
| 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 damaging
Transcript: ENSMUST00000113768
AA Change: I42F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109397
Gene: ENSMUSG00000000386
AA Change: I42F
| 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 damaging
Transcript: ENSMUST00000142883
AA Change: I42F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114709
Gene: ENSMUSG00000000386
AA Change: I42F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynamin_N
|
39 |
65 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155233
AA Change: I42F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138532
Gene: ENSMUSG00000000386
AA Change: I42F
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
12 |
255 |
3.52e-134 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232193
AA Change: I42F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232282
AA Change: I42F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
T |
A |
4: 144,429,972 (GRCm39) |
D339V |
possibly damaging |
Het |
| Adam19 |
A |
G |
11: 45,955,873 (GRCm39) |
E73G |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,123,962 (GRCm39) |
N65K |
probably benign |
Het |
| Amigo1 |
T |
A |
3: 108,095,958 (GRCm39) |
S486T |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,420,174 (GRCm39) |
L591S |
unknown |
Het |
| Asic1 |
T |
C |
15: 99,594,532 (GRCm39) |
V326A |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,385,202 (GRCm39) |
N282S |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,985,066 (GRCm39) |
D51G |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,695,534 (GRCm39) |
S1320P |
possibly damaging |
Het |
| Cabp5 |
A |
T |
7: 13,141,706 (GRCm39) |
|
probably null |
Het |
| Cdca2 |
A |
G |
14: 67,914,821 (GRCm39) |
C813R |
probably benign |
Het |
| Chpf2 |
A |
T |
5: 24,795,343 (GRCm39) |
R289W |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,250,136 (GRCm39) |
N367I |
possibly damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,172,369 (GRCm39) |
F428S |
probably damaging |
Het |
| Dgkb |
A |
T |
12: 38,189,485 (GRCm39) |
N296I |
probably benign |
Het |
| Dhcr24 |
T |
C |
4: 106,443,853 (GRCm39) |
F481S |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,282,525 (GRCm39) |
Q2886L |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,757,807 (GRCm39) |
V99E |
probably benign |
Het |
| F830045P16Rik |
T |
C |
2: 129,316,352 (GRCm39) |
D119G |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,702,428 (GRCm39) |
L1773Q |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,725,241 (GRCm39) |
V1126E |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,489,535 (GRCm39) |
I359V |
probably benign |
Het |
| Hoxc10 |
T |
C |
15: 102,875,902 (GRCm39) |
S204P |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,815 (GRCm39) |
C1304R |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,097,358 (GRCm39) |
E1562G |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,033,038 (GRCm39) |
N235D |
probably benign |
Het |
| Ly6g6f |
T |
C |
17: 35,300,060 (GRCm39) |
R263G |
possibly damaging |
Het |
| Mcrs1 |
C |
A |
15: 99,147,766 (GRCm39) |
S47I |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,227,277 (GRCm39) |
C1235S |
possibly damaging |
Het |
| Obsl1 |
T |
A |
1: 75,469,317 (GRCm39) |
H1208L |
probably benign |
Het |
| Pcmt1 |
T |
C |
10: 7,516,527 (GRCm39) |
D175G |
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,603,457 (GRCm39) |
K459E |
probably benign |
Het |
| Pudp |
T |
G |
18: 50,701,310 (GRCm39) |
H141P |
possibly damaging |
Het |
| Rock2 |
T |
C |
12: 16,992,743 (GRCm39) |
Y171H |
probably damaging |
Het |
| Rwdd1 |
A |
C |
10: 33,885,198 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,522,565 (GRCm39) |
V1085A |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,343,678 (GRCm39) |
L88P |
possibly damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,045 (GRCm39) |
D1351G |
probably damaging |
Het |
| Tph1 |
A |
T |
7: 46,306,303 (GRCm39) |
D219E |
probably damaging |
Het |
| Wdr86 |
A |
G |
5: 24,935,177 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
R7699:Mx1
|
UTSW |
16 |
97,249,521 (GRCm39) |
missense |
unknown |
|
|
R7856:Mx1
|
UTSW |
16 |
97,256,735 (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'- TGATTGACCCTGAACCTGGTG -3'
(R):5'- GAGCATTTCCAGTGGAGCATG -3'
Sequencing Primer
(F):5'- AACCTGGTGCCCTTGTGAGAG -3'
(R):5'- AGTGGAGCATGACCTCACTCTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation