Incidental Mutation 'R9213:Mon2'
| ID |
699014 |
| 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 # |
R9213 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
122827965-122912410 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 122872016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 336
(S336*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037557]
[ENSMUST00000073792]
[ENSMUST00000170935]
[ENSMUST00000219203]
|
| AlphaFold |
Q80TL7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037557
AA Change: S336*
|
| SMART Domains |
Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: S336*
| 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 null
Transcript: ENSMUST00000073792
AA Change: S336*
|
| SMART Domains |
Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: S336*
| 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 null
Transcript: ENSMUST00000170935
AA Change: S336*
|
| SMART Domains |
Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: S336*
| 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 null
Transcript: ENSMUST00000219203
AA Change: S336*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
A |
13: 104,581,440 (GRCm39) |
C852S |
probably damaging |
Het |
| Arf1 |
A |
G |
11: 59,104,186 (GRCm39) |
V43A |
probably damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,340,000 (GRCm39) |
M674K |
probably benign |
Het |
| Asb1 |
A |
C |
1: 91,482,531 (GRCm39) |
K314N |
probably damaging |
Het |
| Aste1 |
T |
C |
9: 105,274,294 (GRCm39) |
F178S |
probably damaging |
Het |
| Avl9 |
T |
C |
6: 56,720,441 (GRCm39) |
F493S |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,009,422 (GRCm39) |
Y220C |
probably benign |
Het |
| Ccdc60 |
T |
C |
5: 116,328,185 (GRCm39) |
E93G |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,377,779 (GRCm39) |
H295R |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,255,628 (GRCm39) |
K87E |
possibly damaging |
Het |
| Chordc1 |
G |
T |
9: 18,223,789 (GRCm39) |
|
probably null |
Het |
| Ciita |
A |
T |
16: 10,319,742 (GRCm39) |
D55V |
probably damaging |
Het |
| Cklf |
T |
C |
8: 104,988,125 (GRCm39) |
V86A |
probably damaging |
Het |
| Clock |
T |
A |
5: 76,393,376 (GRCm39) |
N189I |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,444,205 (GRCm39) |
|
probably null |
Het |
| Dpep3 |
C |
G |
8: 106,700,245 (GRCm39) |
C487S |
probably benign |
Het |
| Dtwd2 |
A |
G |
18: 49,856,799 (GRCm39) |
F163L |
probably benign |
Het |
| Eln |
C |
T |
5: 134,735,456 (GRCm39) |
V776M |
unknown |
Het |
| Fanci |
T |
A |
7: 79,055,971 (GRCm39) |
M201K |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,608,372 (GRCm39) |
T747A |
probably damaging |
Het |
| Galnt9 |
T |
A |
5: 110,767,108 (GRCm39) |
C526* |
probably null |
Het |
| Garnl3 |
T |
C |
2: 32,895,080 (GRCm39) |
E663G |
probably damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,100,945 (GRCm39) |
S247P |
probably damaging |
Het |
| Gm4846 |
C |
T |
1: 166,322,142 (GRCm39) |
D142N |
probably damaging |
Het |
| Kbtbd2 |
T |
A |
6: 56,756,917 (GRCm39) |
E273V |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,648,428 (GRCm39) |
E145G |
possibly damaging |
Het |
| Mmp1a |
G |
T |
9: 7,475,364 (GRCm39) |
V378F |
possibly damaging |
Het |
| Mrgprh |
T |
A |
17: 13,095,917 (GRCm39) |
N52K |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,772,922 (GRCm39) |
F985L |
probably benign |
Het |
| Nek3 |
T |
C |
8: 22,638,677 (GRCm39) |
N207S |
probably benign |
Het |
| Nkpd1 |
A |
G |
7: 19,258,009 (GRCm39) |
D596G |
probably damaging |
Het |
| Oc90 |
C |
A |
15: 65,761,557 (GRCm39) |
E154* |
probably null |
Het |
| Or8b101 |
T |
A |
9: 38,020,426 (GRCm39) |
M143K |
possibly damaging |
Het |
| Or8b3 |
C |
A |
9: 38,315,047 (GRCm39) |
Y292* |
probably null |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,358,874 (GRCm39) |
Y361C |
probably damaging |
Het |
| Polr2h |
T |
C |
16: 20,539,285 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Potefam1 |
T |
A |
2: 111,020,699 (GRCm39) |
R136S |
unknown |
Het |
| Ppp1r26 |
A |
G |
2: 28,343,649 (GRCm39) |
N1093S |
probably benign |
Het |
| Prex1 |
G |
T |
2: 166,417,669 (GRCm39) |
R1313S |
probably damaging |
Het |
| Ptprh |
A |
T |
7: 4,583,911 (GRCm39) |
V227E |
probably damaging |
Het |
| Pycr2 |
A |
G |
1: 180,733,473 (GRCm39) |
D58G |
probably benign |
Het |
| Rad54b |
G |
T |
4: 11,609,321 (GRCm39) |
E591* |
probably null |
Het |
| Rptor |
T |
C |
11: 119,494,765 (GRCm39) |
S44P |
probably benign |
Het |
| Safb2 |
T |
A |
17: 56,882,602 (GRCm39) |
T344S |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,856 (GRCm39) |
E135G |
probably benign |
Het |
| Sec23a |
A |
T |
12: 59,048,708 (GRCm39) |
I167N |
probably damaging |
Het |
| Shoc2 |
C |
T |
19: 54,016,231 (GRCm39) |
T415I |
probably benign |
Het |
| Sobp |
T |
C |
10: 42,898,374 (GRCm39) |
I404V |
probably benign |
Het |
| Ssbp4 |
G |
T |
8: 71,052,395 (GRCm39) |
L147I |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
| Syt14 |
A |
G |
1: 192,612,814 (GRCm39) |
V379A |
probably damaging |
Het |
| Tat |
T |
G |
8: 110,722,820 (GRCm39) |
I294S |
probably damaging |
Het |
| Tcf19 |
A |
G |
17: 35,825,899 (GRCm39) |
V86A |
probably damaging |
Het |
| Tfap2a |
T |
A |
13: 40,870,875 (GRCm39) |
I338F |
possibly damaging |
Het |
| Tmco6 |
C |
A |
18: 36,872,384 (GRCm39) |
N365K |
probably damaging |
Het |
| Tmub2 |
G |
A |
11: 102,178,475 (GRCm39) |
R164K |
|
Het |
| Togaram1 |
A |
G |
12: 65,065,906 (GRCm39) |
I1637V |
possibly damaging |
Het |
| Wdr49 |
A |
C |
3: 75,205,419 (GRCm39) |
S666A |
probably benign |
Het |
| Ybx1 |
T |
A |
4: 119,138,794 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,676,756 (GRCm39) |
I2602N |
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 |
|
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'- ACAGGCACTAAGCTCTTCTG -3'
(R):5'- AGATGGCAAGATGGTGTACC -3'
Sequencing Primer
(F):5'- CTGAGCTCAGATAAGGGCTATC -3'
(R):5'- CTAGTTCTGCATTTTATTCTAGTTAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation