Incidental Mutation 'R7508:Mon2'
| ID |
581902 |
| 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 |
045581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R7508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
122827965-122912410 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 122859844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 811
(W811G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037557]
[ENSMUST00000073792]
[ENSMUST00000170935]
|
| AlphaFold |
Q80TL7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037557
AA Change: W810G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: W810G
| 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: W810G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: W810G
| 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: W811G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: W811G
| 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: ENSMUST00000219001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222536
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
C |
T |
5: 50,174,209 (GRCm39) |
A110T |
probably benign |
Het |
| Adra1a |
A |
C |
14: 66,875,384 (GRCm39) |
I120L |
probably damaging |
Het |
| Ahnak2 |
C |
T |
12: 112,740,839 (GRCm39) |
V1078I |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,547,707 (GRCm39) |
H590R |
probably benign |
Het |
| Cdh12 |
T |
G |
15: 21,583,851 (GRCm39) |
L564V |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,713,821 (GRCm39) |
H1900Q |
probably benign |
Het |
| Clasp1 |
T |
A |
1: 118,473,164 (GRCm39) |
M918K |
probably benign |
Het |
| Cmtm6 |
A |
G |
9: 114,560,308 (GRCm39) |
E2G |
probably damaging |
Het |
| Ctsg |
A |
G |
14: 56,337,998 (GRCm39) |
|
probably null |
Het |
| Cylc2 |
T |
A |
4: 51,229,256 (GRCm39) |
|
probably null |
Het |
| Dna2 |
A |
G |
10: 62,807,772 (GRCm39) |
|
probably null |
Het |
| Dnai1 |
G |
A |
4: 41,614,323 (GRCm39) |
R333H |
probably benign |
Het |
| Egln3 |
T |
C |
12: 54,227,414 (GRCm39) |
D239G |
probably benign |
Het |
| Eif1ad12 |
T |
C |
12: 87,541,612 (GRCm39) |
M41T |
possibly damaging |
Het |
| Fam13a |
A |
T |
6: 58,964,269 (GRCm39) |
D54E |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,636,675 (GRCm39) |
V2159A |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 41,041,157 (GRCm39) |
F105L |
probably benign |
Het |
| Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
| Hacd4 |
A |
G |
4: 88,355,715 (GRCm39) |
F57L |
probably benign |
Het |
| Helb |
T |
C |
10: 119,941,188 (GRCm39) |
D500G |
probably benign |
Het |
| Ighv1-26 |
G |
A |
12: 114,752,062 (GRCm39) |
S94F |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
| Klra7 |
A |
T |
6: 130,207,054 (GRCm39) |
|
probably null |
Het |
| Lyl1 |
T |
C |
8: 85,430,929 (GRCm39) |
V277A |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,807,445 (GRCm39) |
L1627P |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Odf4 |
A |
T |
11: 68,813,249 (GRCm39) |
C218S |
possibly damaging |
Het |
| Or2b6 |
T |
A |
13: 21,822,779 (GRCm39) |
I305F |
probably benign |
Het |
| Or8u3-ps |
A |
G |
2: 85,952,282 (GRCm39) |
N5S |
possibly damaging |
Het |
| Pde5a |
A |
G |
3: 122,611,679 (GRCm39) |
D571G |
probably damaging |
Het |
| Pgc |
A |
G |
17: 48,045,111 (GRCm39) |
E343G |
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,739,040 (GRCm39) |
F667L |
possibly damaging |
Het |
| Prf1 |
G |
A |
10: 61,135,934 (GRCm39) |
R70H |
possibly damaging |
Het |
| Ptprb |
C |
T |
10: 116,189,896 (GRCm39) |
Q1565* |
probably null |
Het |
| Rapgef4 |
T |
A |
2: 72,036,077 (GRCm39) |
N523K |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,719,651 (GRCm39) |
L557P |
probably damaging |
Het |
| Rhobtb3 |
C |
T |
13: 76,026,976 (GRCm39) |
V466I |
probably benign |
Het |
| Rnpep |
A |
G |
1: 135,206,596 (GRCm39) |
V166A |
probably benign |
Het |
| Sgo2a |
A |
G |
1: 58,056,954 (GRCm39) |
K1046R |
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,037,465 (GRCm39) |
V525A |
probably benign |
Het |
| Slc1a4 |
A |
T |
11: 20,256,487 (GRCm39) |
I448N |
probably damaging |
Het |
| Slc29a4 |
C |
T |
5: 142,704,261 (GRCm39) |
P305L |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,089,885 (GRCm39) |
|
probably null |
Het |
| Spag16 |
A |
T |
1: 69,926,679 (GRCm39) |
N258I |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,443,633 (GRCm39) |
L2076Q |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,436,152 (GRCm39) |
H704L |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,035,947 (GRCm39) |
F148L |
probably damaging |
Het |
| Tm4sf1 |
A |
G |
3: 57,202,176 (GRCm39) |
Y12H |
probably benign |
Het |
| Traj6 |
C |
T |
14: 54,450,171 (GRCm39) |
T9M |
|
Het |
| Ttll4 |
A |
G |
1: 74,726,418 (GRCm39) |
N672S |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 58,953,437 (GRCm39) |
H790Q |
possibly damaging |
Het |
| Usp49 |
G |
A |
17: 47,983,205 (GRCm39) |
R70Q |
probably benign |
Het |
| Vmn2r32 |
C |
T |
7: 7,470,373 (GRCm39) |
V515M |
possibly damaging |
Het |
| Wars1 |
A |
G |
12: 108,848,801 (GRCm39) |
S49P |
probably benign |
Het |
| Zbp1 |
T |
A |
2: 173,049,604 (GRCm39) |
Q386L |
possibly damaging |
Het |
| Zfp369 |
T |
C |
13: 65,427,087 (GRCm39) |
F10S |
unknown |
Het |
| Zfp512 |
C |
G |
5: 31,630,883 (GRCm39) |
I408M |
possibly damaging |
Het |
| Zfp952 |
A |
G |
17: 33,222,756 (GRCm39) |
I412V |
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 |
|
|
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'- ACAGCACTGCCATTTTACAAGG -3'
(R):5'- AGGGTCTACTGTATTTCCTGCTAAC -3'
Sequencing Primer
(F):5'- ACCCATTGTTTACAAGATTCACC -3'
(R):5'- TCCTGCTAACTTTACATGTACAAACC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation