Incidental Mutation 'R7509:Mon2'
ID |
581972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mon2
|
Ensembl Gene |
ENSMUSG00000034602 |
Gene Name |
MON2 homolog, regulator of endosome to Golgi trafficking |
Synonyms |
2610528O22Rik, SF21 |
MMRRC Submission |
045582-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R7509 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
122827965-122912410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 122868457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 532
(A532V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037557]
[ENSMUST00000073792]
[ENSMUST00000170935]
[ENSMUST00000219203]
|
AlphaFold |
Q80TL7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037557
AA Change: A532V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037568 Gene: ENSMUSG00000034602 AA Change: A532V
Domain | Start | End | E-Value | Type |
low complexity region
|
119 |
138 |
N/A |
INTRINSIC |
low complexity region
|
164 |
176 |
N/A |
INTRINSIC |
Pfam:Sec7_N
|
208 |
294 |
6.5e-16 |
PFAM |
Pfam:Sec7_N
|
299 |
385 |
2.6e-16 |
PFAM |
low complexity region
|
405 |
438 |
N/A |
INTRINSIC |
low complexity region
|
558 |
575 |
N/A |
INTRINSIC |
low complexity region
|
615 |
627 |
N/A |
INTRINSIC |
Pfam:DUF1981
|
844 |
929 |
2.4e-21 |
PFAM |
low complexity region
|
984 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1182 |
1193 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073792
AA Change: A532V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000073462 Gene: ENSMUSG00000034602 AA Change: A532V
Domain | Start | End | E-Value | Type |
Pfam:DCB
|
8 |
184 |
3e-72 |
PFAM |
Pfam:Sec7_N
|
211 |
384 |
3.1e-58 |
PFAM |
low complexity region
|
405 |
438 |
N/A |
INTRINSIC |
low complexity region
|
558 |
575 |
N/A |
INTRINSIC |
low complexity region
|
615 |
627 |
N/A |
INTRINSIC |
Pfam:DUF1981
|
848 |
929 |
6.6e-20 |
PFAM |
Pfam:Mon2_C
|
932 |
1706 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170935
AA Change: A532V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000131052 Gene: ENSMUSG00000034602 AA Change: A532V
Domain | Start | End | E-Value | Type |
low complexity region
|
119 |
138 |
N/A |
INTRINSIC |
low complexity region
|
164 |
176 |
N/A |
INTRINSIC |
Pfam:Sec7_N
|
208 |
294 |
6.5e-16 |
PFAM |
Pfam:Sec7_N
|
299 |
385 |
2.6e-16 |
PFAM |
low complexity region
|
405 |
438 |
N/A |
INTRINSIC |
low complexity region
|
559 |
576 |
N/A |
INTRINSIC |
low complexity region
|
616 |
628 |
N/A |
INTRINSIC |
Pfam:DUF1981
|
845 |
930 |
8.1e-22 |
PFAM |
low complexity region
|
985 |
1002 |
N/A |
INTRINSIC |
low complexity region
|
1183 |
1194 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219203
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm5 |
A |
G |
7: 119,133,611 (GRCm39) |
S259G |
probably benign |
Het |
Adamts16 |
G |
T |
13: 70,935,283 (GRCm39) |
N436K |
probably damaging |
Het |
Asb3 |
T |
A |
11: 30,948,507 (GRCm39) |
M61K |
probably benign |
Het |
Catspere2 |
A |
G |
1: 177,905,078 (GRCm39) |
T163A |
possibly damaging |
Het |
Ccser2 |
A |
G |
14: 36,660,602 (GRCm39) |
L517P |
probably damaging |
Het |
Cd226 |
A |
G |
18: 89,265,195 (GRCm39) |
T158A |
probably benign |
Het |
Chd6 |
A |
T |
2: 160,855,074 (GRCm39) |
I778N |
probably damaging |
Het |
Cnga4 |
T |
C |
7: 105,056,097 (GRCm39) |
V336A |
probably benign |
Het |
Cpd |
C |
T |
11: 76,688,702 (GRCm39) |
V857I |
probably benign |
Het |
Cpm |
A |
G |
10: 117,495,745 (GRCm39) |
Y78C |
probably damaging |
Het |
Cst7 |
A |
T |
2: 150,419,624 (GRCm39) |
T97S |
probably benign |
Het |
Cttnbp2nl |
T |
C |
3: 104,940,046 (GRCm39) |
K8E |
possibly damaging |
Het |
Erbb4 |
A |
T |
1: 68,289,739 (GRCm39) |
D767E |
possibly damaging |
Het |
Esyt2 |
T |
C |
12: 116,329,496 (GRCm39) |
S685P |
probably damaging |
Het |
Fam110d |
A |
C |
4: 133,979,424 (GRCm39) |
V18G |
probably damaging |
Het |
Gcfc2 |
T |
C |
6: 81,930,256 (GRCm39) |
L641P |
probably damaging |
Het |
Gcnt4 |
T |
A |
13: 97,083,678 (GRCm39) |
F325I |
probably benign |
Het |
Glg1 |
T |
G |
8: 111,985,675 (GRCm39) |
S52R |
probably benign |
Het |
Gm10577 |
G |
A |
4: 100,877,848 (GRCm39) |
L16F |
unknown |
Het |
Gm14326 |
C |
T |
2: 177,587,493 (GRCm39) |
G501D |
probably benign |
Het |
Gm1587 |
G |
A |
14: 78,034,464 (GRCm39) |
P35S |
unknown |
Het |
Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
Helb |
T |
A |
10: 119,925,719 (GRCm39) |
H886L |
probably damaging |
Het |
Hgsnat |
A |
G |
8: 26,445,754 (GRCm39) |
V380A |
probably damaging |
Het |
Hmbs |
T |
A |
9: 44,248,208 (GRCm39) |
R125S |
|
Het |
Hsd17b4 |
A |
T |
18: 50,297,749 (GRCm39) |
Y346F |
probably damaging |
Het |
Inpp4a |
T |
C |
1: 37,426,911 (GRCm39) |
L624P |
probably damaging |
Het |
Irak2 |
AC |
ACC |
6: 113,667,859 (GRCm39) |
|
probably null |
Het |
Itga11 |
C |
T |
9: 62,689,222 (GRCm39) |
T1129I |
probably benign |
Het |
Itih4 |
G |
A |
14: 30,617,404 (GRCm39) |
V575I |
probably benign |
Het |
Kcnn2 |
A |
G |
18: 45,816,187 (GRCm39) |
T473A |
probably benign |
Het |
Kidins220 |
T |
C |
12: 25,032,360 (GRCm39) |
V31A |
probably damaging |
Het |
Lrch1 |
G |
A |
14: 75,185,048 (GRCm39) |
T18I |
probably benign |
Het |
Ly6e |
T |
C |
15: 74,830,135 (GRCm39) |
F30L |
probably damaging |
Het |
Med13l |
A |
G |
5: 118,886,995 (GRCm39) |
D1632G |
probably damaging |
Het |
Mei4 |
T |
A |
9: 81,907,630 (GRCm39) |
L320Q |
probably damaging |
Het |
Mlip |
T |
G |
9: 77,088,678 (GRCm39) |
T197P |
probably damaging |
Het |
Myh1 |
C |
T |
11: 67,101,287 (GRCm39) |
P688S |
probably benign |
Het |
Ncapg |
G |
A |
5: 45,853,450 (GRCm39) |
D900N |
probably benign |
Het |
Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,546,430 (GRCm39) |
N361S |
probably benign |
Het |
Nudt16l1 |
T |
A |
16: 4,757,082 (GRCm39) |
H26Q |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,942,455 (GRCm39) |
T4348I |
probably benign |
Het |
Or10d4b |
T |
A |
9: 39,534,623 (GRCm39) |
I66N |
probably damaging |
Het |
Or8c20 |
T |
A |
9: 38,260,868 (GRCm39) |
M157K |
probably benign |
Het |
Pcdh7 |
T |
A |
5: 57,877,529 (GRCm39) |
D361E |
probably damaging |
Het |
Pcdhb7 |
C |
A |
18: 37,475,074 (GRCm39) |
T70K |
possibly damaging |
Het |
Pcdhga3 |
T |
A |
18: 37,808,910 (GRCm39) |
Y454* |
probably null |
Het |
Pigc |
A |
T |
1: 161,798,545 (GRCm39) |
T176S |
probably benign |
Het |
Pola2 |
A |
T |
19: 6,011,194 (GRCm39) |
S43R |
probably benign |
Het |
Pole |
A |
T |
5: 110,478,571 (GRCm39) |
|
probably benign |
Het |
Polq |
C |
A |
16: 36,880,705 (GRCm39) |
D956E |
probably benign |
Het |
Polq |
T |
A |
16: 36,880,706 (GRCm39) |
C957S |
probably benign |
Het |
Ppp3cc |
G |
A |
14: 70,504,131 (GRCm39) |
T107I |
probably damaging |
Het |
Prss39 |
C |
A |
1: 34,539,280 (GRCm39) |
H173Q |
possibly damaging |
Het |
Reep4 |
A |
G |
14: 70,785,928 (GRCm39) |
D256G |
probably benign |
Het |
Rfc3 |
A |
G |
5: 151,570,975 (GRCm39) |
V107A |
probably damaging |
Het |
Slc19a3 |
A |
G |
1: 83,003,981 (GRCm39) |
L40P |
probably damaging |
Het |
Slc29a4 |
C |
T |
5: 142,704,261 (GRCm39) |
P305L |
probably benign |
Het |
Strada |
C |
A |
11: 106,077,920 (GRCm39) |
V15F |
unknown |
Het |
Suco |
A |
T |
1: 161,672,903 (GRCm39) |
S440T |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,090,683 (GRCm39) |
C1595S |
probably benign |
Het |
Synpo |
G |
T |
18: 60,736,566 (GRCm39) |
T460K |
probably damaging |
Het |
Tagap |
A |
T |
17: 8,147,568 (GRCm39) |
I93F |
probably damaging |
Het |
Tmtc3 |
A |
T |
10: 100,301,956 (GRCm39) |
F331Y |
probably damaging |
Het |
Tnpo1 |
A |
C |
13: 99,006,751 (GRCm39) |
I225M |
probably benign |
Het |
Tollip |
A |
T |
7: 141,445,878 (GRCm39) |
M70K |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,691,842 (GRCm39) |
I171N |
probably damaging |
Het |
Ttc41 |
G |
T |
10: 86,549,296 (GRCm39) |
E163D |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,575,695 (GRCm39) |
T189S |
probably benign |
Het |
Vmn2r20 |
C |
T |
6: 123,362,382 (GRCm39) |
V801I |
probably benign |
Het |
Vmn2r82 |
G |
A |
10: 79,231,842 (GRCm39) |
V614I |
possibly damaging |
Het |
Vmn2r96 |
G |
A |
17: 18,802,995 (GRCm39) |
E302K |
probably benign |
Het |
Vwf |
T |
C |
6: 125,619,132 (GRCm39) |
F1270S |
|
Het |
Wdr3 |
A |
T |
3: 100,058,503 (GRCm39) |
F367L |
probably benign |
Het |
Zfp592 |
A |
G |
7: 80,688,088 (GRCm39) |
S1005G |
probably damaging |
Het |
|
Other mutations in Mon2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00497:Mon2
|
APN |
10 |
122,862,204 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01072:Mon2
|
APN |
10 |
122,846,444 (GRCm39) |
nonsense |
probably null |
|
IGL02080:Mon2
|
APN |
10 |
122,888,095 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02157:Mon2
|
APN |
10 |
122,849,377 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02419:Mon2
|
APN |
10 |
122,852,352 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02498:Mon2
|
APN |
10 |
122,870,235 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02638:Mon2
|
APN |
10 |
122,859,844 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02664:Mon2
|
APN |
10 |
122,845,401 (GRCm39) |
splice site |
probably benign |
|
IGL02690:Mon2
|
APN |
10 |
122,845,532 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02878:Mon2
|
APN |
10 |
122,842,896 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03092:Mon2
|
APN |
10 |
122,854,005 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03103:Mon2
|
APN |
10 |
122,866,008 (GRCm39) |
splice site |
probably benign |
|
IGL03208:Mon2
|
APN |
10 |
122,853,974 (GRCm39) |
splice site |
probably benign |
|
R0010:Mon2
|
UTSW |
10 |
122,868,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R0016:Mon2
|
UTSW |
10 |
122,871,451 (GRCm39) |
missense |
probably damaging |
0.96 |
R0016:Mon2
|
UTSW |
10 |
122,871,451 (GRCm39) |
missense |
probably damaging |
0.96 |
R0027:Mon2
|
UTSW |
10 |
122,871,953 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0027:Mon2
|
UTSW |
10 |
122,871,953 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0145:Mon2
|
UTSW |
10 |
122,849,417 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0390:Mon2
|
UTSW |
10 |
122,842,926 (GRCm39) |
missense |
probably null |
0.05 |
R0481:Mon2
|
UTSW |
10 |
122,849,301 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0513:Mon2
|
UTSW |
10 |
122,874,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R0599:Mon2
|
UTSW |
10 |
122,861,970 (GRCm39) |
splice site |
probably benign |
|
R1226:Mon2
|
UTSW |
10 |
122,838,724 (GRCm39) |
missense |
probably benign |
0.17 |
R1548:Mon2
|
UTSW |
10 |
122,871,912 (GRCm39) |
splice site |
probably benign |
|
R1598:Mon2
|
UTSW |
10 |
122,852,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R1650:Mon2
|
UTSW |
10 |
122,831,682 (GRCm39) |
missense |
probably benign |
0.45 |
R1687:Mon2
|
UTSW |
10 |
122,862,029 (GRCm39) |
missense |
probably damaging |
0.98 |
R1721:Mon2
|
UTSW |
10 |
122,867,002 (GRCm39) |
missense |
probably damaging |
0.98 |
R1768:Mon2
|
UTSW |
10 |
122,849,668 (GRCm39) |
missense |
probably benign |
0.00 |
R1827:Mon2
|
UTSW |
10 |
122,882,216 (GRCm39) |
missense |
probably damaging |
0.97 |
R1879:Mon2
|
UTSW |
10 |
122,838,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Mon2
|
UTSW |
10 |
122,874,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Mon2
|
UTSW |
10 |
122,874,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Mon2
|
UTSW |
10 |
122,845,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R2060:Mon2
|
UTSW |
10 |
122,831,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R2160:Mon2
|
UTSW |
10 |
122,911,834 (GRCm39) |
nonsense |
probably null |
|
R2165:Mon2
|
UTSW |
10 |
122,878,269 (GRCm39) |
splice site |
probably null |
|
R3737:Mon2
|
UTSW |
10 |
122,849,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R3814:Mon2
|
UTSW |
10 |
122,849,470 (GRCm39) |
missense |
probably damaging |
0.98 |
R4058:Mon2
|
UTSW |
10 |
122,838,724 (GRCm39) |
missense |
probably benign |
0.17 |
R4091:Mon2
|
UTSW |
10 |
122,874,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R4214:Mon2
|
UTSW |
10 |
122,852,397 (GRCm39) |
missense |
probably benign |
0.03 |
R4354:Mon2
|
UTSW |
10 |
122,862,888 (GRCm39) |
missense |
probably benign |
0.02 |
R4422:Mon2
|
UTSW |
10 |
122,878,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R4505:Mon2
|
UTSW |
10 |
122,845,494 (GRCm39) |
missense |
probably damaging |
0.99 |
R4791:Mon2
|
UTSW |
10 |
122,841,962 (GRCm39) |
missense |
probably benign |
0.01 |
R4797:Mon2
|
UTSW |
10 |
122,852,422 (GRCm39) |
missense |
probably benign |
0.45 |
R4944:Mon2
|
UTSW |
10 |
122,874,364 (GRCm39) |
critical splice donor site |
probably null |
|
R4982:Mon2
|
UTSW |
10 |
122,831,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R5298:Mon2
|
UTSW |
10 |
122,846,511 (GRCm39) |
missense |
probably benign |
|
R5503:Mon2
|
UTSW |
10 |
122,868,550 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5653:Mon2
|
UTSW |
10 |
122,861,999 (GRCm39) |
missense |
probably damaging |
0.96 |
R5687:Mon2
|
UTSW |
10 |
122,844,144 (GRCm39) |
missense |
probably damaging |
0.99 |
R5838:Mon2
|
UTSW |
10 |
122,846,397 (GRCm39) |
critical splice donor site |
probably null |
|
R6108:Mon2
|
UTSW |
10 |
122,868,600 (GRCm39) |
missense |
probably benign |
0.00 |
R6182:Mon2
|
UTSW |
10 |
122,874,564 (GRCm39) |
splice site |
probably null |
|
R6355:Mon2
|
UTSW |
10 |
122,858,825 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6358:Mon2
|
UTSW |
10 |
122,849,409 (GRCm39) |
missense |
probably damaging |
0.98 |
R6548:Mon2
|
UTSW |
10 |
122,871,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R6557:Mon2
|
UTSW |
10 |
122,852,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Mon2
|
UTSW |
10 |
122,874,385 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7140:Mon2
|
UTSW |
10 |
122,871,358 (GRCm39) |
missense |
probably benign |
0.00 |
R7303:Mon2
|
UTSW |
10 |
122,874,364 (GRCm39) |
critical splice donor site |
probably null |
|
R7317:Mon2
|
UTSW |
10 |
122,849,851 (GRCm39) |
missense |
probably damaging |
0.97 |
R7355:Mon2
|
UTSW |
10 |
122,845,421 (GRCm39) |
missense |
probably benign |
|
R7508:Mon2
|
UTSW |
10 |
122,859,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R7647:Mon2
|
UTSW |
10 |
122,841,931 (GRCm39) |
missense |
probably benign |
|
R7720:Mon2
|
UTSW |
10 |
122,868,493 (GRCm39) |
missense |
probably benign |
0.00 |
R7799:Mon2
|
UTSW |
10 |
122,878,236 (GRCm39) |
missense |
probably benign |
0.41 |
R7801:Mon2
|
UTSW |
10 |
122,895,091 (GRCm39) |
critical splice donor site |
probably null |
|
R7823:Mon2
|
UTSW |
10 |
122,868,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R7985:Mon2
|
UTSW |
10 |
122,852,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R8310:Mon2
|
UTSW |
10 |
122,838,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Mon2
|
UTSW |
10 |
122,845,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8825:Mon2
|
UTSW |
10 |
122,849,776 (GRCm39) |
missense |
probably benign |
0.00 |
R8937:Mon2
|
UTSW |
10 |
122,895,110 (GRCm39) |
missense |
probably benign |
|
R8978:Mon2
|
UTSW |
10 |
122,871,469 (GRCm39) |
nonsense |
probably null |
|
R9011:Mon2
|
UTSW |
10 |
122,862,213 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9213:Mon2
|
UTSW |
10 |
122,872,016 (GRCm39) |
nonsense |
probably null |
|
R9358:Mon2
|
UTSW |
10 |
122,868,452 (GRCm39) |
missense |
probably benign |
0.00 |
R9630:Mon2
|
UTSW |
10 |
122,874,415 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Mon2
|
UTSW |
10 |
122,842,007 (GRCm39) |
missense |
probably benign |
0.07 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGACAGCTGCAGTGAGAC -3'
(R):5'- CAACTATCCCAGAAGGCTATGC -3'
Sequencing Primer
(F):5'- GCACGTCTAGACTTCATCTCAAGTAG -3'
(R):5'- GCTATGCCATGTCCGTGG -3'
|
Posted On |
2019-10-17 |