Incidental Mutation 'R1879:Mon2'
ID |
211411 |
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 |
039900-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.898)
|
Stock # |
R1879 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
122827965-122912410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 122838790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 1565
(R1565H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131052
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037557]
[ENSMUST00000073792]
[ENSMUST00000170935]
|
AlphaFold |
Q80TL7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037557
AA Change: R1564H
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000037568 Gene: ENSMUSG00000034602 AA Change: R1564H
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: R1571H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000073462 Gene: ENSMUSG00000034602 AA Change: R1571H
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: R1565H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000131052 Gene: ENSMUSG00000034602 AA Change: R1565H
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: ENSMUST00000219290
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222536
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.6%
- 10x: 94.9%
- 20x: 91.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
T |
C |
2: 30,686,488 (GRCm39) |
D268G |
possibly damaging |
Het |
Abce1 |
T |
C |
8: 80,414,085 (GRCm39) |
N542S |
probably benign |
Het |
Abcf1 |
T |
A |
17: 36,272,704 (GRCm39) |
E260D |
probably benign |
Het |
Ahcy |
A |
G |
2: 154,906,072 (GRCm39) |
|
probably null |
Het |
Akap13 |
C |
T |
7: 75,260,475 (GRCm39) |
A1033V |
probably benign |
Het |
Alkbh6 |
A |
G |
7: 30,011,320 (GRCm39) |
N46S |
probably damaging |
Het |
Ankrd34c |
A |
C |
9: 89,612,126 (GRCm39) |
L72V |
probably damaging |
Het |
Arf4 |
T |
A |
14: 26,368,076 (GRCm39) |
N25K |
probably damaging |
Het |
Arhgef4 |
A |
G |
1: 34,761,521 (GRCm39) |
D259G |
unknown |
Het |
Cavin1 |
C |
A |
11: 100,861,036 (GRCm39) |
G86V |
probably damaging |
Het |
Ces1d |
G |
A |
8: 93,916,126 (GRCm39) |
T167I |
probably benign |
Het |
Cfb |
T |
C |
17: 35,079,536 (GRCm39) |
I754V |
probably benign |
Het |
Clcnkb |
C |
T |
4: 141,135,130 (GRCm39) |
R536H |
possibly damaging |
Het |
Clpb |
T |
G |
7: 101,355,690 (GRCm39) |
S181R |
probably benign |
Het |
Col1a1 |
T |
C |
11: 94,842,051 (GRCm39) |
M1366T |
unknown |
Het |
Cped1 |
T |
A |
6: 22,085,014 (GRCm39) |
|
probably null |
Het |
Crip1 |
G |
A |
12: 113,116,952 (GRCm39) |
C82Y |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,520,915 (GRCm39) |
T2810A |
possibly damaging |
Het |
Cyp2b9 |
A |
T |
7: 25,897,994 (GRCm39) |
D266V |
probably damaging |
Het |
Cyp46a1 |
A |
G |
12: 108,319,385 (GRCm39) |
D294G |
probably damaging |
Het |
Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,227,924 (GRCm39) |
E1514G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,591,070 (GRCm39) |
E1046G |
probably benign |
Het |
Eya2 |
T |
C |
2: 165,506,726 (GRCm39) |
V4A |
probably benign |
Het |
Frem3 |
A |
T |
8: 81,338,567 (GRCm39) |
R287* |
probably null |
Het |
Fuca2 |
T |
A |
10: 13,383,000 (GRCm39) |
C323S |
possibly damaging |
Het |
Ggt7 |
T |
C |
2: 155,356,707 (GRCm39) |
E4G |
possibly damaging |
Het |
Gli1 |
C |
T |
10: 127,169,606 (GRCm39) |
R383H |
probably damaging |
Het |
Gm4559 |
C |
A |
7: 141,827,998 (GRCm39) |
V35F |
unknown |
Het |
Gpm6a |
T |
A |
8: 55,490,365 (GRCm39) |
C14S |
probably damaging |
Het |
Hcn2 |
A |
T |
10: 79,562,023 (GRCm39) |
I340F |
probably benign |
Het |
Hdac9 |
T |
A |
12: 34,440,332 (GRCm39) |
D349V |
probably damaging |
Het |
Krt34 |
T |
C |
11: 99,929,118 (GRCm39) |
D364G |
possibly damaging |
Het |
Myb |
T |
A |
10: 21,017,876 (GRCm39) |
M482L |
probably benign |
Het |
Nckap1l |
A |
T |
15: 103,373,028 (GRCm39) |
I294F |
probably benign |
Het |
Nr2e1 |
A |
G |
10: 42,444,367 (GRCm39) |
|
probably null |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
Or1r1 |
T |
A |
11: 73,875,368 (GRCm39) |
D22V |
probably benign |
Het |
Or4k38 |
A |
T |
2: 111,165,808 (GRCm39) |
I205N |
possibly damaging |
Het |
Or52h7 |
T |
C |
7: 104,214,118 (GRCm39) |
V230A |
possibly damaging |
Het |
Pde8b |
A |
T |
13: 95,221,723 (GRCm39) |
I308N |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,373,986 (GRCm39) |
R2050G |
possibly damaging |
Het |
Phc3 |
C |
A |
3: 30,968,607 (GRCm39) |
S840I |
probably damaging |
Het |
Piezo2 |
T |
A |
18: 63,247,031 (GRCm39) |
Y327F |
probably damaging |
Het |
Pnliprp1 |
A |
T |
19: 58,732,516 (GRCm39) |
I460F |
probably benign |
Het |
Pphln1 |
T |
G |
15: 93,321,927 (GRCm39) |
D35E |
probably damaging |
Het |
Prdm6 |
G |
A |
18: 53,701,289 (GRCm39) |
V360I |
probably damaging |
Het |
Rab35 |
T |
A |
5: 115,778,219 (GRCm39) |
W62R |
probably damaging |
Het |
Sct |
G |
T |
7: 140,858,612 (GRCm39) |
P70Q |
probably damaging |
Het |
Sdf4 |
A |
G |
4: 156,094,304 (GRCm39) |
N328S |
probably damaging |
Het |
Senp5 |
A |
T |
16: 31,802,642 (GRCm39) |
S488R |
probably damaging |
Het |
Serpina3n |
A |
G |
12: 104,375,213 (GRCm39) |
E95G |
probably benign |
Het |
Sfswap |
C |
T |
5: 129,618,392 (GRCm39) |
A442V |
probably benign |
Het |
Sgcd |
T |
C |
11: 47,246,068 (GRCm39) |
I45V |
probably benign |
Het |
Sgcg |
T |
C |
14: 61,474,346 (GRCm39) |
|
probably null |
Het |
Slc39a12 |
G |
T |
2: 14,448,868 (GRCm39) |
V489L |
probably benign |
Het |
Slc5a11 |
T |
A |
7: 122,838,671 (GRCm39) |
I96N |
possibly damaging |
Het |
Slc6a12 |
A |
G |
6: 121,324,382 (GRCm39) |
D2G |
probably damaging |
Het |
Slc8a1 |
T |
C |
17: 81,955,442 (GRCm39) |
D532G |
probably damaging |
Het |
Smarcd3 |
C |
A |
5: 24,798,019 (GRCm39) |
C465F |
probably damaging |
Het |
Smc1b |
T |
A |
15: 84,976,268 (GRCm39) |
Q813L |
probably benign |
Het |
Spag1 |
G |
A |
15: 36,181,916 (GRCm39) |
E25K |
probably damaging |
Het |
Sptan1 |
A |
T |
2: 29,885,540 (GRCm39) |
N715I |
probably damaging |
Het |
Tas1r2 |
T |
A |
4: 139,397,006 (GRCm39) |
Y782N |
probably damaging |
Het |
Thap3 |
A |
T |
4: 152,067,593 (GRCm39) |
C162S |
probably benign |
Het |
Topaz1 |
T |
A |
9: 122,578,684 (GRCm39) |
D531E |
possibly damaging |
Het |
Vmn1r25 |
C |
T |
6: 57,955,912 (GRCm39) |
A126T |
possibly damaging |
Het |
Zfhx2 |
A |
G |
14: 55,303,074 (GRCm39) |
F1637L |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,310,206 (GRCm39) |
Y780C |
possibly damaging |
Het |
Zfp513 |
T |
G |
5: 31,357,767 (GRCm39) |
K202T |
probably damaging |
Het |
Zfp956 |
A |
T |
6: 47,940,678 (GRCm39) |
T346S |
probably benign |
Het |
Zkscan1 |
C |
T |
5: 138,095,410 (GRCm39) |
A219V |
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 |
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'- AGGGCATTTTCCACTCAGC -3'
(R):5'- GTTGATTATGGGCAGCCTCTC -3'
Sequencing Primer
(F):5'- GCCTCTCATCCTCTATGTAGCGATG -3'
(R):5'- GATTATGGGCAGCCTCTCTTTGC -3'
|
Posted On |
2014-06-30 |