Incidental Mutation 'R1548:Mon2'
| ID |
172342 |
| 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 |
039587-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R1548 (G1)
|
| Quality Score |
104 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
122827965-122912410 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 122871912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000218253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219203
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 11,588,818 (GRCm39) |
R78S |
probably damaging |
Het |
| Acad10 |
G |
C |
5: 121,764,104 (GRCm39) |
|
probably benign |
Het |
| Acad10 |
G |
T |
5: 121,764,103 (GRCm39) |
|
probably benign |
Het |
| Ang2 |
C |
A |
14: 51,432,990 (GRCm39) |
E131* |
probably null |
Het |
| Ankfn1 |
T |
C |
11: 89,417,367 (GRCm39) |
N82D |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,885,847 (GRCm39) |
I181T |
possibly damaging |
Het |
| Bcl2l12 |
C |
G |
7: 44,642,242 (GRCm39) |
G215R |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,194,194 (GRCm39) |
Y1044H |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,038,675 (GRCm39) |
F1172S |
probably damaging |
Het |
| Cct8 |
A |
G |
16: 87,282,472 (GRCm39) |
I482T |
probably damaging |
Het |
| Cfap74 |
C |
T |
4: 155,518,502 (GRCm39) |
T580I |
probably benign |
Het |
| Cib1 |
A |
T |
7: 79,878,162 (GRCm39) |
Y105* |
probably null |
Het |
| Cpa1 |
G |
A |
6: 30,642,334 (GRCm39) |
G245D |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,845,371 (GRCm39) |
V801A |
possibly damaging |
Het |
| Ddx10 |
T |
C |
9: 53,060,861 (GRCm39) |
|
probably null |
Het |
| Ddx4 |
T |
C |
13: 112,736,531 (GRCm39) |
N613S |
probably damaging |
Het |
| Drd3 |
A |
G |
16: 43,641,704 (GRCm39) |
D340G |
probably benign |
Het |
| E2f4 |
A |
G |
8: 106,031,320 (GRCm39) |
*411W |
probably null |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Foxp1 |
A |
T |
6: 98,922,381 (GRCm39) |
I450N |
probably damaging |
Het |
| Ftdc1 |
A |
T |
16: 58,436,202 (GRCm39) |
D40E |
probably benign |
Het |
| Gpr19 |
A |
G |
6: 134,847,047 (GRCm39) |
F175S |
possibly damaging |
Het |
| Gpr21 |
C |
T |
2: 37,408,084 (GRCm39) |
T210M |
probably damaging |
Het |
| Grhl2 |
C |
T |
15: 37,336,567 (GRCm39) |
A488V |
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,778,328 (GRCm39) |
T435A |
probably benign |
Het |
| Hoxb4 |
C |
T |
11: 96,209,725 (GRCm39) |
R44* |
probably null |
Het |
| Ifi47 |
A |
G |
11: 48,986,698 (GRCm39) |
D155G |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,042,509 (GRCm39) |
L142P |
probably benign |
Het |
| Ints6 |
G |
A |
14: 62,951,141 (GRCm39) |
P296L |
probably damaging |
Het |
| Itga3 |
A |
G |
11: 94,937,745 (GRCm39) |
|
probably null |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Krtap20-1 |
G |
A |
16: 88,812,277 (GRCm39) |
|
probably benign |
Het |
| Lgals12 |
A |
T |
19: 7,581,677 (GRCm39) |
H50Q |
probably benign |
Het |
| Lrp12 |
A |
G |
15: 39,735,902 (GRCm39) |
S696P |
probably damaging |
Het |
| Lrp6 |
G |
A |
6: 134,436,392 (GRCm39) |
T1258I |
possibly damaging |
Het |
| Meis2 |
C |
T |
2: 115,889,183 (GRCm39) |
D190N |
probably damaging |
Het |
| Mir100hg |
T |
C |
9: 41,492,672 (GRCm39) |
L116P |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,238,368 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,379,064 (GRCm39) |
H1394R |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,079,028 (GRCm39) |
I929F |
probably damaging |
Het |
| Nek6 |
T |
A |
2: 38,458,907 (GRCm39) |
Y141N |
probably damaging |
Het |
| Notch4 |
T |
A |
17: 34,787,396 (GRCm39) |
C319S |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,957,525 (GRCm39) |
D285V |
probably benign |
Het |
| Olfml1 |
T |
C |
7: 107,189,582 (GRCm39) |
S216P |
possibly damaging |
Het |
| Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
| Pfkfb2 |
G |
T |
1: 130,625,820 (GRCm39) |
H453Q |
probably benign |
Het |
| Pigt |
C |
T |
2: 164,343,439 (GRCm39) |
T305I |
probably benign |
Het |
| Plxnb1 |
C |
T |
9: 108,929,968 (GRCm39) |
L275F |
possibly damaging |
Het |
| Ppm1d |
C |
T |
11: 85,230,431 (GRCm39) |
R350C |
probably damaging |
Het |
| Prss1l |
G |
T |
6: 41,372,945 (GRCm39) |
L72F |
probably damaging |
Het |
| Rassf1 |
C |
A |
9: 107,429,045 (GRCm39) |
P84T |
probably benign |
Het |
| Rgl3 |
G |
T |
9: 21,892,002 (GRCm39) |
R361S |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,333,533 (GRCm39) |
R2914H |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,569,435 (GRCm39) |
C4956* |
probably null |
Het |
| Scaper |
C |
T |
9: 55,723,954 (GRCm39) |
R668H |
probably damaging |
Het |
| Spata6 |
T |
C |
4: 111,636,203 (GRCm39) |
F165L |
probably benign |
Het |
| Tcirg1 |
A |
T |
19: 3,946,845 (GRCm39) |
W694R |
probably benign |
Het |
| Tmem245 |
A |
T |
4: 56,906,233 (GRCm39) |
Y160* |
probably null |
Het |
| Tshr |
T |
C |
12: 91,500,805 (GRCm39) |
Y279H |
probably damaging |
Het |
| Ttf1 |
A |
C |
2: 28,955,150 (GRCm39) |
K171N |
probably damaging |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,220,896 (GRCm39) |
V611A |
probably damaging |
Het |
| Zfp142 |
G |
T |
1: 74,609,263 (GRCm39) |
H1408N |
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 |
|
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 |
|
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'- GAGACTGGATAAAAGACCCCAGTGC -3'
(R):5'- CAGCAGACCATTAGTATCTCAGGCG -3'
Sequencing Primer
(F):5'- CAATGTCTCGGAAAACCTTGGTG -3'
(R):5'- TCAGATAAGCCACAGTGGCT -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation