Incidental Mutation 'R7140:Mon2'
| ID |
553411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mon2
|
| Ensembl Gene |
ENSMUSG00000034602 |
| Gene Name |
MON2 homolog, regulator of endosome to Golgi trafficking |
| Synonyms |
2610528O22Rik, SF21 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R7140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
122827965-122912410 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 122871358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 420
(V420I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037557]
[ENSMUST00000073792]
[ENSMUST00000170935]
[ENSMUST00000219203]
|
| AlphaFold |
Q80TL7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037557
|
| SMART Domains |
Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
| 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
|
| SMART Domains |
Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
| 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
|
| SMART Domains |
Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
| 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
AA Change: V420I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
T |
C |
8: 27,610,929 (GRCm39) |
|
probably null |
Het |
| Ap2a2 |
G |
A |
7: 141,178,777 (GRCm39) |
A148T |
probably benign |
Het |
| Arhgef3 |
A |
T |
14: 27,123,664 (GRCm39) |
N442Y |
probably damaging |
Het |
| B3gat3 |
A |
G |
19: 8,903,216 (GRCm39) |
Y191C |
probably damaging |
Het |
| B430306N03Rik |
A |
T |
17: 48,629,483 (GRCm39) |
K203* |
probably null |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,283 (GRCm39) |
Y188F |
probably benign |
Het |
| Capn10 |
T |
C |
1: 92,872,993 (GRCm39) |
V573A |
possibly damaging |
Het |
| Cbx4 |
T |
C |
11: 118,972,754 (GRCm39) |
Y207C |
probably damaging |
Het |
| Ccdc43 |
G |
T |
11: 102,579,695 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
C |
A |
5: 93,416,614 (GRCm39) |
P45Q |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,263 (GRCm39) |
H68R |
probably benign |
Het |
| Cmtm4 |
A |
G |
8: 105,081,827 (GRCm39) |
Y187H |
probably damaging |
Het |
| Cst11 |
T |
C |
2: 148,610,649 (GRCm39) |
N134S |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,939,855 (GRCm39) |
F51I |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,342,973 (GRCm39) |
E1439G |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,686,158 (GRCm39) |
V131A |
probably benign |
Het |
| Dpysl2 |
A |
G |
14: 67,099,982 (GRCm39) |
S85P |
probably benign |
Het |
| Dync1i2 |
A |
G |
2: 71,078,283 (GRCm39) |
H324R |
probably benign |
Het |
| Elf1 |
A |
G |
14: 79,804,710 (GRCm39) |
D162G |
probably benign |
Het |
| Eri3 |
G |
A |
4: 117,506,604 (GRCm39) |
|
probably null |
Het |
| Fbxl21 |
T |
C |
13: 56,680,145 (GRCm39) |
S203P |
probably damaging |
Het |
| Foxi1 |
G |
A |
11: 34,155,758 (GRCm39) |
R291C |
probably damaging |
Het |
| Gprin3 |
C |
T |
6: 59,332,128 (GRCm39) |
A60T |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,491,118 (GRCm39) |
C212R |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,954,318 (GRCm39) |
L878P |
probably damaging |
Het |
| Hs6st3 |
A |
T |
14: 119,376,514 (GRCm39) |
N230Y |
probably damaging |
Het |
| Htr3b |
A |
G |
9: 48,848,441 (GRCm39) |
V268A |
possibly damaging |
Het |
| Ip6k3 |
T |
C |
17: 27,363,969 (GRCm39) |
T360A |
probably damaging |
Het |
| Izumo1 |
A |
G |
7: 45,275,536 (GRCm39) |
T282A |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,086,623 (GRCm39) |
I1019N |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,880,037 (GRCm39) |
V1043A |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,708 (GRCm39) |
Y605F |
possibly damaging |
Het |
| Nek7 |
A |
G |
1: 138,414,793 (GRCm39) |
I285T |
probably benign |
Het |
| Notch3 |
A |
G |
17: 32,375,351 (GRCm39) |
V357A |
possibly damaging |
Het |
| Nrxn1 |
G |
A |
17: 91,396,192 (GRCm39) |
|
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,795,297 (GRCm39) |
V281M |
possibly damaging |
Het |
| Or4a67 |
G |
A |
2: 88,598,308 (GRCm39) |
A117V |
probably damaging |
Het |
| Or5g9 |
T |
A |
2: 85,551,818 (GRCm39) |
L23Q |
probably damaging |
Het |
| Or6c74 |
T |
G |
10: 129,870,083 (GRCm39) |
M196R |
possibly damaging |
Het |
| Ostm1 |
C |
T |
10: 42,559,268 (GRCm39) |
A176V |
probably null |
Het |
| Pabpc6 |
C |
A |
17: 9,887,357 (GRCm39) |
S398I |
possibly damaging |
Het |
| Pcdhac2 |
C |
A |
18: 37,277,239 (GRCm39) |
P73H |
possibly damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,872,184 (GRCm39) |
D671G |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pigu |
A |
C |
2: 155,143,160 (GRCm39) |
L248R |
possibly damaging |
Het |
| Pinx1 |
C |
A |
14: 64,097,834 (GRCm39) |
|
probably null |
Het |
| Pon3 |
T |
C |
6: 5,221,664 (GRCm39) |
N322S |
possibly damaging |
Het |
| Pramel23 |
T |
G |
4: 143,425,002 (GRCm39) |
H147P |
probably benign |
Het |
| Rnft1 |
A |
G |
11: 86,382,586 (GRCm39) |
I270V |
probably benign |
Het |
| Scgb2b11 |
A |
G |
7: 31,910,006 (GRCm39) |
F27L |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,910,943 (GRCm39) |
V298I |
probably damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,048,745 (GRCm39) |
H345L |
probably benign |
Het |
| Sox1 |
C |
T |
8: 12,447,405 (GRCm39) |
P349S |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 65,068,913 (GRCm39) |
N354D |
probably benign |
Het |
| Speg |
T |
C |
1: 75,383,414 (GRCm39) |
|
probably null |
Het |
| Stpg1 |
T |
C |
4: 135,261,033 (GRCm39) |
I281T |
probably benign |
Het |
| Sult3a1 |
T |
C |
10: 33,753,283 (GRCm39) |
L193P |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,745,271 (GRCm39) |
C1097S |
probably damaging |
Het |
| Tfap2a |
A |
G |
13: 40,883,523 (GRCm39) |
S7P |
probably benign |
Het |
| Tlr1 |
T |
C |
5: 65,083,021 (GRCm39) |
I519V |
probably benign |
Het |
| Tmem238 |
A |
G |
7: 4,792,072 (GRCm39) |
V157A |
possibly damaging |
Het |
| Tmem45b |
A |
T |
9: 31,345,780 (GRCm39) |
|
probably null |
Het |
| Togaram2 |
A |
T |
17: 72,021,761 (GRCm39) |
H742L |
probably benign |
Het |
| Trpc7 |
A |
T |
13: 56,937,487 (GRCm39) |
Y656* |
probably null |
Het |
| Wdr35 |
T |
A |
12: 9,072,785 (GRCm39) |
Y920N |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,668,117 (GRCm39) |
R154C |
possibly damaging |
Het |
| Zfp759 |
A |
T |
13: 67,288,177 (GRCm39) |
H576L |
possibly damaging |
Het |
| Zfp958 |
G |
T |
8: 4,678,481 (GRCm39) |
A169S |
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 |
|
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'- TGCAACATGAACAAACTGATGGAC -3'
(R):5'- TTAGAGAAACCACTCAGGCATAAAG -3'
Sequencing Primer
(F):5'- CTGGCTTGGTAATACACACATGC -3'
(R):5'- GGCATAAAGAATGACACCAAATATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation