Incidental Mutation 'R4422:Mon2'
ID |
327161 |
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 |
041695-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.898)
|
Stock # |
R4422 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
122827965-122912410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122878887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 218
(L218P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151951
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037557]
[ENSMUST00000073792]
[ENSMUST00000170935]
[ENSMUST00000219203]
|
AlphaFold |
Q80TL7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037557
AA Change: L218P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000037568 Gene: ENSMUSG00000034602 AA Change: L218P
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 damaging
Transcript: ENSMUST00000073792
AA Change: L218P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000073462 Gene: ENSMUSG00000034602 AA Change: L218P
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 damaging
Transcript: ENSMUST00000170935
AA Change: L218P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131052 Gene: ENSMUSG00000034602 AA Change: L218P
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 damaging
Transcript: ENSMUST00000219203
AA Change: L218P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Meta Mutation Damage Score |
0.8493 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
96% (67/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
T |
C |
2: 26,895,412 (GRCm39) |
S1168P |
probably benign |
Het |
Adgrf2 |
T |
C |
17: 43,024,046 (GRCm39) |
M142V |
probably benign |
Het |
Akna |
G |
T |
4: 63,305,330 (GRCm39) |
Q479K |
possibly damaging |
Het |
Arhgef9 |
T |
G |
X: 94,144,670 (GRCm39) |
I131L |
possibly damaging |
Het |
AW551984 |
A |
T |
9: 39,511,373 (GRCm39) |
C111S |
probably null |
Het |
Bak1 |
C |
A |
17: 27,240,298 (GRCm39) |
G130W |
probably damaging |
Het |
Bank1 |
T |
A |
3: 135,788,972 (GRCm39) |
Q441L |
probably damaging |
Het |
C030034I22Rik |
T |
C |
17: 69,725,153 (GRCm39) |
|
noncoding transcript |
Het |
Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
Cct7 |
A |
G |
6: 85,444,127 (GRCm39) |
R355G |
probably damaging |
Het |
Cd19 |
C |
T |
7: 126,012,578 (GRCm39) |
V272I |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,390,547 (GRCm39) |
L1095S |
probably damaging |
Het |
Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
Chrm3 |
A |
T |
13: 9,928,591 (GRCm39) |
Y148* |
probably null |
Het |
Chrnb3 |
T |
C |
8: 27,886,761 (GRCm39) |
V445A |
possibly damaging |
Het |
Col4a4 |
T |
A |
1: 82,467,559 (GRCm39) |
M852L |
unknown |
Het |
Dhx29 |
T |
C |
13: 113,083,781 (GRCm39) |
L612P |
probably damaging |
Het |
Dlgap2 |
T |
C |
8: 14,793,463 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 117,972,799 (GRCm39) |
T2045A |
possibly damaging |
Het |
Dync1li1 |
A |
G |
9: 114,538,377 (GRCm39) |
T245A |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,488,354 (GRCm39) |
E42G |
probably damaging |
Het |
Fam120b |
C |
A |
17: 15,622,445 (GRCm39) |
T141K |
probably damaging |
Het |
Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
Gcnt2 |
T |
G |
13: 41,014,001 (GRCm39) |
Y57* |
probably null |
Het |
Gm5409 |
C |
T |
6: 41,396,519 (GRCm39) |
|
noncoding transcript |
Het |
Hip1r |
A |
G |
5: 124,135,069 (GRCm39) |
K402E |
possibly damaging |
Het |
Hlcs |
G |
A |
16: 93,939,819 (GRCm39) |
P506L |
possibly damaging |
Het |
Itih4 |
T |
A |
14: 30,611,821 (GRCm39) |
F142I |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
Lamb2 |
A |
G |
9: 108,360,754 (GRCm39) |
D518G |
probably damaging |
Het |
Ldlr |
G |
A |
9: 21,649,248 (GRCm39) |
C341Y |
probably damaging |
Het |
Lsr |
G |
T |
7: 30,665,422 (GRCm39) |
N177K |
probably benign |
Het |
Macf1 |
G |
A |
4: 123,359,839 (GRCm39) |
S1815F |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,503,008 (GRCm39) |
S95P |
probably damaging |
Het |
Nlrp4f |
C |
T |
13: 65,332,776 (GRCm39) |
|
probably null |
Het |
Nrde2 |
G |
A |
12: 100,112,286 (GRCm39) |
Q137* |
probably null |
Het |
Or12e10 |
C |
A |
2: 87,640,989 (GRCm39) |
T275K |
probably damaging |
Het |
Or51l14 |
G |
T |
7: 103,101,450 (GRCm39) |
R302L |
probably damaging |
Het |
Or6z7 |
G |
T |
7: 6,484,037 (GRCm39) |
Y39* |
probably null |
Het |
Phf24 |
G |
A |
4: 42,934,817 (GRCm39) |
C151Y |
probably damaging |
Het |
Pik3r1 |
T |
G |
13: 101,830,892 (GRCm39) |
N3T |
probably benign |
Het |
Plcb2 |
T |
C |
2: 118,542,484 (GRCm39) |
K821E |
probably benign |
Het |
Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
Prelid2 |
T |
C |
18: 42,045,461 (GRCm39) |
T150A |
probably benign |
Het |
Psg21 |
A |
G |
7: 18,381,257 (GRCm39) |
S429P |
probably damaging |
Het |
Reg4 |
T |
C |
3: 98,140,360 (GRCm39) |
Y114H |
possibly damaging |
Het |
Rsbn1l |
G |
T |
5: 21,101,544 (GRCm39) |
H665Q |
probably damaging |
Het |
Rspo2 |
T |
C |
15: 43,033,150 (GRCm39) |
N24S |
probably benign |
Het |
Ryr2 |
G |
T |
13: 11,731,952 (GRCm39) |
C2329* |
probably null |
Het |
Skint2 |
T |
A |
4: 112,441,785 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
Tmem53 |
T |
C |
4: 117,123,149 (GRCm39) |
Y37H |
probably damaging |
Het |
Tmem59l |
G |
A |
8: 70,938,749 (GRCm39) |
R111W |
probably damaging |
Het |
Tnks2 |
G |
A |
19: 36,823,053 (GRCm39) |
V107I |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,019,882 (GRCm39) |
L404* |
probably null |
Het |
Vmn2r86 |
T |
C |
10: 130,288,845 (GRCm39) |
I219V |
possibly damaging |
Het |
Vsig10 |
T |
C |
5: 117,462,986 (GRCm39) |
S71P |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,930,856 (GRCm39) |
N896S |
probably benign |
Het |
Zfp871 |
T |
A |
17: 32,993,808 (GRCm39) |
S437C |
probably benign |
Het |
Zfp871 |
C |
A |
17: 32,993,807 (GRCm39) |
S456I |
probably benign |
Het |
Zfp873 |
A |
G |
10: 81,896,708 (GRCm39) |
T480A |
probably benign |
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 |
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 |
R7509:Mon2
|
UTSW |
10 |
122,868,457 (GRCm39) |
missense |
probably benign |
|
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'- GTGGCCCAACATTTTATCATGC -3'
(R):5'- GTCAGAGATCATGTGATAAAAGCTG -3'
Sequencing Primer
(F):5'- GCTAGTTAGGTATACAGTAGATGCG -3'
(R):5'- GAAGACATGGTTCTTTAAACAGGAAC -3'
|
Posted On |
2015-07-07 |