Incidental Mutation 'R9630:Mon2'
ID |
725443 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.898)
|
Stock # |
R9630 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
122827965-122912410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 122874415 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 311
(R311H)
|
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: R311H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037568 Gene: ENSMUSG00000034602 AA Change: R311H
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: R311H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073462 Gene: ENSMUSG00000034602 AA Change: R311H
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: R311H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131052 Gene: ENSMUSG00000034602 AA Change: R311H
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: R311H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.8102 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1l1 |
A |
G |
6: 48,952,756 (GRCm39) |
D227G |
probably damaging |
Het |
Arhgap17 |
A |
G |
7: 122,907,540 (GRCm39) |
M274T |
probably benign |
Het |
Bco2 |
T |
C |
9: 50,456,757 (GRCm39) |
T128A |
possibly damaging |
Het |
Bcr |
T |
A |
10: 74,966,950 (GRCm39) |
L519Q |
probably damaging |
Het |
Cadps2 |
A |
T |
6: 23,587,571 (GRCm39) |
S306R |
probably benign |
Het |
Cage1 |
T |
C |
13: 38,206,855 (GRCm39) |
E330G |
probably damaging |
Het |
Ccdc8 |
A |
G |
7: 16,728,733 (GRCm39) |
K74R |
possibly damaging |
Het |
Cdc42ep2 |
C |
A |
19: 5,968,363 (GRCm39) |
G114V |
|
Het |
Celsr3 |
T |
C |
9: 108,704,296 (GRCm39) |
S260P |
probably benign |
Het |
Clic4 |
G |
A |
4: 134,944,476 (GRCm39) |
T233I |
probably damaging |
Het |
Clip2 |
C |
A |
5: 134,531,934 (GRCm39) |
D624Y |
probably damaging |
Het |
Clock |
A |
G |
5: 76,393,281 (GRCm39) |
S221P |
probably benign |
Het |
Creb3l2 |
G |
T |
6: 37,356,808 (GRCm39) |
S86R |
possibly damaging |
Het |
Cspp1 |
G |
A |
1: 10,108,292 (GRCm39) |
|
probably benign |
Het |
Dusp13b |
A |
T |
14: 21,784,974 (GRCm39) |
N128K |
probably benign |
Het |
Efnb2 |
T |
C |
8: 8,670,617 (GRCm39) |
S328G |
probably damaging |
Het |
Egf |
A |
G |
3: 129,518,844 (GRCm39) |
L335P |
possibly damaging |
Het |
Eml4 |
T |
A |
17: 83,717,572 (GRCm39) |
V48D |
probably damaging |
Het |
Fat2 |
A |
C |
11: 55,147,605 (GRCm39) |
V3879G |
probably benign |
Het |
Fcgbpl1 |
T |
C |
7: 27,836,624 (GRCm39) |
L181P |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,926,438 (GRCm38) |
Y1827* |
probably null |
Het |
Fuca2 |
A |
T |
10: 13,378,820 (GRCm39) |
Y71F |
probably benign |
Het |
Gcn1 |
C |
A |
5: 115,741,349 (GRCm39) |
H1463N |
probably damaging |
Het |
Ifitm10 |
C |
T |
7: 141,924,909 (GRCm39) |
A48T |
probably damaging |
Het |
Iqce |
T |
C |
5: 140,666,591 (GRCm39) |
D385G |
possibly damaging |
Het |
Kdm5b |
T |
A |
1: 134,512,971 (GRCm39) |
|
probably null |
Het |
Kdm7a |
A |
T |
6: 39,150,239 (GRCm39) |
S178T |
probably damaging |
Het |
Mmp12 |
T |
A |
9: 7,347,516 (GRCm39) |
M31K |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
Myo15a |
T |
A |
11: 60,407,988 (GRCm39) |
C3159S |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,302,470 (GRCm39) |
V346A |
probably damaging |
Het |
Nfkbib |
A |
T |
7: 28,461,304 (GRCm39) |
Y114* |
probably null |
Het |
Nr2c1 |
T |
A |
10: 93,998,285 (GRCm39) |
D76E |
probably benign |
Het |
Obscn |
G |
A |
11: 58,943,397 (GRCm39) |
R4251C |
probably benign |
Het |
Or1ak2 |
T |
C |
2: 36,827,653 (GRCm39) |
I174T |
probably damaging |
Het |
Or4a74 |
C |
A |
2: 89,440,349 (GRCm39) |
M32I |
probably benign |
Het |
Or5m10b |
A |
G |
2: 85,699,493 (GRCm39) |
M186V |
probably benign |
Het |
Or6c33 |
T |
C |
10: 129,853,410 (GRCm39) |
F60S |
probably damaging |
Het |
Or8h7 |
A |
C |
2: 86,720,956 (GRCm39) |
S188A |
probably damaging |
Het |
Pced1a |
A |
T |
2: 130,261,109 (GRCm39) |
I416N |
probably benign |
Het |
Pdzd2 |
G |
T |
15: 12,374,443 (GRCm39) |
D1897E |
probably benign |
Het |
Pign |
A |
T |
1: 105,481,591 (GRCm39) |
F802I |
probably benign |
Het |
Pik3c2g |
C |
A |
6: 139,599,237 (GRCm39) |
Q118K |
possibly damaging |
Het |
Plcl2 |
A |
G |
17: 50,947,147 (GRCm39) |
M1009V |
probably benign |
Het |
Ppil6 |
T |
A |
10: 41,370,550 (GRCm39) |
D59E |
probably benign |
Het |
Rad23a |
T |
C |
8: 85,564,919 (GRCm39) |
D152G |
probably benign |
Het |
Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
Rint1 |
T |
C |
5: 24,020,810 (GRCm39) |
V611A |
possibly damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sall4 |
A |
G |
2: 168,596,408 (GRCm39) |
S811P |
probably benign |
Het |
Scaf11 |
G |
A |
15: 96,316,049 (GRCm39) |
P1172S |
probably damaging |
Het |
Sel1l3 |
T |
G |
5: 53,342,117 (GRCm39) |
N368H |
possibly damaging |
Het |
Sele |
C |
A |
1: 163,879,523 (GRCm39) |
P352Q |
probably damaging |
Het |
Serpinf1 |
T |
A |
11: 75,301,852 (GRCm39) |
T268S |
probably benign |
Het |
Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
Sis |
A |
T |
3: 72,828,722 (GRCm39) |
N1152K |
probably benign |
Het |
Slc16a13 |
T |
C |
11: 70,108,597 (GRCm39) |
E411G |
possibly damaging |
Het |
Slc22a23 |
T |
C |
13: 34,379,390 (GRCm39) |
N459S |
possibly damaging |
Het |
Srpk1 |
C |
A |
17: 28,819,404 (GRCm39) |
K268N |
probably benign |
Het |
Ssbp3 |
A |
G |
4: 106,895,426 (GRCm39) |
Y258C |
probably damaging |
Het |
Ssc5d |
C |
T |
7: 4,939,426 (GRCm39) |
P621S |
probably damaging |
Het |
Strada |
T |
C |
11: 106,077,781 (GRCm39) |
Q61R |
unknown |
Het |
Strn3 |
G |
A |
12: 51,657,013 (GRCm39) |
T755I |
probably damaging |
Het |
Taf4b |
C |
G |
18: 14,930,077 (GRCm39) |
P150A |
probably damaging |
Het |
Tmem236 |
T |
A |
2: 14,223,815 (GRCm39) |
H201Q |
probably benign |
Het |
Top3b |
A |
G |
16: 16,710,354 (GRCm39) |
E728G |
probably benign |
Het |
Tshr |
C |
T |
12: 91,504,409 (GRCm39) |
P449L |
probably damaging |
Het |
Ugt2b36 |
C |
T |
5: 87,239,773 (GRCm39) |
G204D |
possibly damaging |
Het |
Vldlr |
A |
T |
19: 27,207,623 (GRCm39) |
Q37L |
probably damaging |
Het |
Zfat |
A |
T |
15: 67,990,793 (GRCm39) |
I1031N |
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 |
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 |
X0022:Mon2
|
UTSW |
10 |
122,842,007 (GRCm39) |
missense |
probably benign |
0.07 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGGCGGCTTTGGTGACA -3'
(R):5'- AGAAGTATCACTACAAACTCAGTGA -3'
Sequencing Primer
(F):5'- GCTGTCTAAGGACCAAAGCCTTTG -3'
(R):5'- GCTCGTGATCAAGCTCT -3'
|
Posted On |
2022-09-12 |