Incidental Mutation 'R0016:Mon2'
ID |
32709 |
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 |
038311-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.898)
|
Stock # |
R0016 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
10 |
Chromosomal Location |
122827965-122912410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 122871451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 389
(V389M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131052
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037557]
[ENSMUST00000073792]
[ENSMUST00000170935]
[ENSMUST00000219203]
|
AlphaFold |
Q80TL7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037557
AA Change: V389M
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000037568 Gene: ENSMUSG00000034602 AA Change: V389M
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: V389M
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000073462 Gene: ENSMUSG00000034602 AA Change: V389M
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: V389M
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131052 Gene: ENSMUSG00000034602 AA Change: V389M
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 |
noncoding transcript
Transcript: ENSMUST00000218253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219001
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219203
AA Change: V389M
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
C |
1: 71,333,959 (GRCm39) |
V1181G |
probably benign |
Het |
Adamts12 |
A |
T |
15: 11,217,915 (GRCm39) |
I291F |
probably damaging |
Het |
Aspm |
G |
C |
1: 139,407,282 (GRCm39) |
Q2056H |
probably benign |
Het |
C7 |
A |
T |
15: 5,076,406 (GRCm39) |
V122E |
probably benign |
Het |
Casp12 |
A |
T |
9: 5,352,844 (GRCm39) |
Q152L |
probably null |
Het |
Cdh16 |
T |
A |
8: 105,344,264 (GRCm39) |
T92S |
probably benign |
Het |
Chrd |
G |
C |
16: 20,553,058 (GRCm39) |
V162L |
possibly damaging |
Het |
Cpne8 |
A |
G |
15: 90,385,608 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
T |
C |
13: 113,502,639 (GRCm39) |
Y115H |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,090,384 (GRCm39) |
I347F |
probably damaging |
Het |
Cyp4a10 |
A |
T |
4: 115,378,304 (GRCm39) |
Q130L |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
Dgkd |
T |
C |
1: 87,845,674 (GRCm39) |
S294P |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,882,290 (GRCm39) |
I621V |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,144,346 (GRCm39) |
|
probably benign |
Het |
Echdc1 |
A |
T |
10: 29,198,417 (GRCm39) |
|
probably benign |
Het |
Elovl3 |
T |
A |
19: 46,120,597 (GRCm39) |
F30Y |
probably damaging |
Het |
Fa2h |
T |
C |
8: 112,120,146 (GRCm39) |
Y80C |
probably damaging |
Het |
Fgd3 |
C |
T |
13: 49,450,085 (GRCm39) |
D55N |
probably benign |
Het |
Fhod1 |
T |
C |
8: 106,058,287 (GRCm39) |
E823G |
possibly damaging |
Het |
Gapvd1 |
A |
G |
2: 34,589,925 (GRCm39) |
|
probably benign |
Het |
Gm17067 |
A |
T |
7: 42,358,046 (GRCm39) |
I152K |
probably benign |
Het |
Gvin3 |
G |
A |
7: 106,202,453 (GRCm39) |
L264F |
probably benign |
Het |
Kif27 |
A |
G |
13: 58,502,528 (GRCm39) |
V50A |
probably damaging |
Het |
Kpna2 |
T |
C |
11: 106,881,912 (GRCm39) |
T305A |
probably benign |
Het |
Krtap22-2 |
A |
G |
16: 88,807,407 (GRCm39) |
|
probably benign |
Het |
Lrp2bp |
T |
A |
8: 46,465,068 (GRCm39) |
F62L |
probably damaging |
Het |
Marf1 |
G |
A |
16: 13,970,129 (GRCm39) |
H197Y |
probably damaging |
Het |
Mob3b |
A |
G |
4: 35,083,947 (GRCm39) |
F81L |
probably benign |
Het |
Myef2l |
A |
T |
3: 10,154,379 (GRCm39) |
M383L |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,189,351 (GRCm39) |
K1176E |
probably damaging |
Het |
Naf1 |
T |
C |
8: 67,341,707 (GRCm39) |
|
probably benign |
Het |
Nckap1l |
A |
G |
15: 103,384,063 (GRCm39) |
T554A |
probably benign |
Het |
Oog3 |
A |
G |
4: 143,884,641 (GRCm39) |
Y432H |
probably damaging |
Het |
Paxbp1 |
A |
T |
16: 90,832,924 (GRCm39) |
|
probably benign |
Het |
Phf20 |
A |
T |
2: 156,109,114 (GRCm39) |
K154* |
probably null |
Het |
Pip4p1 |
C |
T |
14: 51,166,351 (GRCm39) |
R213Q |
probably damaging |
Het |
Plekhj1 |
T |
C |
10: 80,632,250 (GRCm39) |
D74G |
possibly damaging |
Het |
Plpp4 |
T |
C |
7: 128,925,148 (GRCm39) |
C128R |
probably damaging |
Het |
Rcan3 |
A |
T |
4: 135,145,689 (GRCm39) |
|
probably null |
Het |
Sh3rf1 |
T |
A |
8: 61,827,172 (GRCm39) |
M642K |
probably benign |
Het |
Slc7a1 |
A |
G |
5: 148,271,393 (GRCm39) |
V522A |
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,303,182 (GRCm39) |
|
probably benign |
Het |
Spry2 |
C |
T |
14: 106,130,731 (GRCm39) |
V152M |
probably benign |
Het |
Srgap2 |
A |
G |
1: 131,277,200 (GRCm39) |
M349T |
possibly damaging |
Het |
Stag3 |
A |
G |
5: 138,289,643 (GRCm39) |
H271R |
possibly damaging |
Het |
Stat4 |
T |
C |
1: 52,107,939 (GRCm39) |
V136A |
probably benign |
Het |
Stc2 |
A |
T |
11: 31,310,177 (GRCm39) |
D286E |
probably benign |
Het |
Stk31 |
T |
C |
6: 49,414,311 (GRCm39) |
Y482H |
probably damaging |
Het |
Tasor2 |
A |
C |
13: 3,635,170 (GRCm39) |
|
probably null |
Het |
Ticrr |
C |
T |
7: 79,343,540 (GRCm39) |
P1135L |
probably benign |
Het |
Trim27 |
A |
T |
13: 21,375,399 (GRCm39) |
E310V |
probably benign |
Het |
Uvrag |
T |
C |
7: 98,641,188 (GRCm39) |
K284R |
probably benign |
Het |
Vmn1r78 |
A |
C |
7: 11,887,279 (GRCm39) |
S297R |
probably benign |
Het |
Xylt2 |
A |
G |
11: 94,560,466 (GRCm39) |
S270P |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,676,810 (GRCm39) |
M2620T |
probably benign |
Het |
Zkscan2 |
C |
A |
7: 123,099,219 (GRCm39) |
|
probably benign |
Het |
Zwint |
T |
C |
10: 72,493,030 (GRCm39) |
|
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 |
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 |
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'- CCTGCGCCTGCACATATATAAACACATA -3'
(R):5'- GCCGTCATTTACTAAGCAAATGAAGCC -3'
Sequencing Primer
(F):5'- CTGACTCCTGTAAACCAAGGGA -3'
(R):5'- TTAGAGAAACCACTCAGGCATAAAG -3'
|
Posted On |
2013-05-09 |