Incidental Mutation 'R9153:Mug2'
| ID |
695143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mug2
|
| Ensembl Gene |
ENSMUSG00000030131 |
| Gene Name |
murinoglobulin 2 |
| Synonyms |
|
| MMRRC Submission |
068940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R9153 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
121983720-122062924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122017627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 455
(T455S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081777]
|
| AlphaFold |
P28666 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081777
AA Change: T455S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: T455S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A2M_N
|
128 |
221 |
3.5e-21 |
PFAM |
|
A2M_N_2
|
449 |
599 |
1.05e-42 |
SMART |
|
low complexity region
|
711 |
728 |
N/A |
INTRINSIC |
|
A2M
|
740 |
830 |
7.16e-36 |
SMART |
|
Pfam:Thiol-ester_cl
|
963 |
992 |
1e-18 |
PFAM |
|
low complexity region
|
994 |
1005 |
N/A |
INTRINSIC |
|
Pfam:A2M_comp
|
1012 |
1097 |
5.8e-34 |
PFAM |
|
Pfam:A2M_comp
|
1093 |
1243 |
3e-47 |
PFAM |
|
A2M_recep
|
1353 |
1440 |
1.85e-38 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (73/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,107,481 (GRCm39) |
S711R |
possibly damaging |
Het |
| Adnp |
C |
A |
2: 168,026,580 (GRCm39) |
Q238H |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,259,229 (GRCm39) |
T618A |
probably benign |
Het |
| Ankfn1 |
G |
A |
11: 89,302,845 (GRCm39) |
R58W |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,308,493 (GRCm39) |
|
probably benign |
Het |
| Borcs5 |
G |
T |
6: 134,618,108 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,517,906 (GRCm39) |
M25V |
possibly damaging |
Het |
| Canx |
A |
T |
11: 50,188,162 (GRCm39) |
D527E |
probably benign |
Het |
| Ccdc154 |
G |
A |
17: 25,382,152 (GRCm39) |
D24N |
probably damaging |
Het |
| Ccnt1 |
G |
A |
15: 98,441,159 (GRCm39) |
T703I |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,774,479 (GRCm39) |
S19G |
possibly damaging |
Het |
| Cdc25b |
G |
A |
2: 131,034,564 (GRCm39) |
E264K |
possibly damaging |
Het |
| Cdhr17 |
A |
T |
5: 17,040,916 (GRCm39) |
|
probably null |
Het |
| Cog5 |
A |
C |
12: 31,710,810 (GRCm39) |
K63N |
possibly damaging |
Het |
| Col28a1 |
G |
A |
6: 8,022,765 (GRCm39) |
T726I |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,690,365 (GRCm39) |
S219P |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,536,569 (GRCm39) |
W2162R |
probably damaging |
Het |
| Eef1a2 |
A |
G |
2: 180,789,774 (GRCm39) |
*464R |
probably null |
Het |
| Eif1a |
T |
A |
18: 46,741,036 (GRCm39) |
D90E |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,706,496 (GRCm39) |
R996Q |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,839,787 (GRCm39) |
|
probably null |
Het |
| Frat2 |
A |
G |
19: 41,835,806 (GRCm39) |
L182P |
probably damaging |
Het |
| Fxyd2 |
G |
T |
9: 45,319,609 (GRCm39) |
V24F |
probably damaging |
Het |
| Gabrd |
C |
T |
4: 155,470,496 (GRCm39) |
V319I |
probably damaging |
Het |
| H13 |
T |
G |
2: 152,533,788 (GRCm39) |
V267G |
possibly damaging |
Het |
| Hnf4g |
T |
C |
3: 3,573,378 (GRCm39) |
|
probably benign |
Het |
| Iglon5 |
T |
A |
7: 43,125,421 (GRCm39) |
T272S |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,844,547 (GRCm39) |
M454L |
probably benign |
Het |
| Irf8 |
T |
C |
8: 121,480,400 (GRCm39) |
C304R |
probably benign |
Het |
| Itga2 |
A |
G |
13: 115,001,941 (GRCm39) |
F614L |
probably benign |
Het |
| Itgb4 |
A |
C |
11: 115,874,879 (GRCm39) |
H412P |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,064,678 (GRCm39) |
F921S |
probably damaging |
Het |
| Kctd13 |
A |
G |
7: 126,541,327 (GRCm39) |
D189G |
probably damaging |
Het |
| Meis2 |
G |
T |
2: 115,697,756 (GRCm39) |
P381T |
probably benign |
Het |
| Mertk |
G |
T |
2: 128,624,487 (GRCm39) |
A633S |
probably damaging |
Het |
| Morn5 |
A |
G |
2: 35,942,993 (GRCm39) |
Y31C |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,404,744 (GRCm39) |
N700S |
probably benign |
Het |
| Nisch |
T |
C |
14: 30,896,782 (GRCm39) |
T807A |
unknown |
Het |
| Nkx1-1 |
A |
T |
5: 33,588,703 (GRCm39) |
V195E |
unknown |
Het |
| Numa1 |
A |
G |
7: 101,649,118 (GRCm39) |
T950A |
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,514,429 (GRCm39) |
T126A |
possibly damaging |
Het |
| Oca2 |
C |
T |
7: 55,943,586 (GRCm39) |
T253I |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,286,733 (GRCm39) |
K166R |
possibly damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,306 (GRCm39) |
I103N |
possibly damaging |
Het |
| P4ha1 |
A |
G |
10: 59,203,112 (GRCm39) |
K435R |
probably damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,131 (GRCm39) |
N175K |
possibly damaging |
Het |
| Per3 |
A |
G |
4: 151,111,796 (GRCm39) |
L396P |
probably benign |
Het |
| Phactr3 |
A |
T |
2: 177,925,739 (GRCm39) |
E338V |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,064,725 (GRCm39) |
R1782S |
unknown |
Het |
| Prpf39 |
A |
T |
12: 65,106,671 (GRCm39) |
Q593L |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,416,126 (GRCm39) |
Y1724C |
probably damaging |
Het |
| Pygo1 |
T |
A |
9: 72,852,143 (GRCm39) |
V110D |
possibly damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,826,790 (GRCm39) |
L133Q |
probably damaging |
Het |
| Rgs10 |
G |
A |
7: 127,975,733 (GRCm39) |
R145C |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,833,855 (GRCm39) |
Y665C |
possibly damaging |
Het |
| Sel1l3 |
T |
A |
5: 53,293,188 (GRCm39) |
T843S |
probably benign |
Het |
| Senp7 |
G |
A |
16: 56,006,486 (GRCm39) |
V964I |
probably benign |
Het |
| Setd4 |
T |
A |
16: 93,384,722 (GRCm39) |
D322V |
possibly damaging |
Het |
| Sftpc |
T |
A |
14: 70,759,650 (GRCm39) |
T90S |
probably benign |
Het |
| Shq1 |
A |
T |
6: 100,588,738 (GRCm39) |
D382E |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,029 (GRCm39) |
R13G |
probably damaging |
Het |
| Slc12a1 |
T |
G |
2: 125,002,989 (GRCm39) |
|
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,731,805 (GRCm39) |
F385S |
probably benign |
Het |
| Stk38l |
A |
G |
6: 146,660,048 (GRCm39) |
T27A |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,899,327 (GRCm39) |
S9P |
probably damaging |
Het |
| Tcstv1a |
T |
A |
13: 120,355,290 (GRCm39) |
D114V |
probably damaging |
Het |
| Tmigd1 |
A |
T |
11: 76,795,468 (GRCm39) |
R25S |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,773,519 (GRCm39) |
Y1154N |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,045,091 (GRCm39) |
V3A |
|
Het |
| Ubr1 |
A |
T |
2: 120,756,469 (GRCm39) |
D719E |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,795,822 (GRCm39) |
K923R |
|
Het |
| Vmn2r12 |
C |
T |
5: 109,234,203 (GRCm39) |
V670M |
probably damaging |
Het |
| Zfp983 |
T |
C |
17: 21,876,522 (GRCm39) |
S9P |
probably benign |
Het |
| Zfp986 |
A |
T |
4: 145,626,030 (GRCm39) |
H230L |
probably damaging |
Het |
| Zscan4f |
G |
A |
7: 11,135,241 (GRCm39) |
E216K |
probably benign |
Het |
|
| Other mutations in Mug2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00708:Mug2
|
APN |
6 |
122,024,446 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL00957:Mug2
|
APN |
6 |
122,017,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01314:Mug2
|
APN |
6 |
122,058,238 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01338:Mug2
|
APN |
6 |
122,026,587 (GRCm39) |
splice site |
probably benign |
|
|
IGL01477:Mug2
|
APN |
6 |
122,058,643 (GRCm39) |
splice site |
probably benign |
|
|
IGL01926:Mug2
|
APN |
6 |
122,013,063 (GRCm39) |
splice site |
probably benign |
|
|
IGL02019:Mug2
|
APN |
6 |
122,024,394 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02305:Mug2
|
APN |
6 |
122,013,015 (GRCm39) |
missense |
probably benign |
|
|
IGL02310:Mug2
|
APN |
6 |
122,036,082 (GRCm39) |
splice site |
probably benign |
|
|
IGL02484:Mug2
|
APN |
6 |
122,049,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Mug2
|
APN |
6 |
122,047,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02531:Mug2
|
APN |
6 |
122,049,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Mug2
|
APN |
6 |
122,058,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02936:Mug2
|
APN |
6 |
122,058,346 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0114:Mug2
|
UTSW |
6 |
122,017,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Mug2
|
UTSW |
6 |
122,013,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0123:Mug2
|
UTSW |
6 |
122,051,673 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0144:Mug2
|
UTSW |
6 |
122,047,970 (GRCm39) |
splice site |
probably benign |
|
|
R0225:Mug2
|
UTSW |
6 |
122,051,673 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0514:Mug2
|
UTSW |
6 |
122,058,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0763:Mug2
|
UTSW |
6 |
122,052,253 (GRCm39) |
missense |
probably benign |
|
|
R0959:Mug2
|
UTSW |
6 |
122,062,454 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1104:Mug2
|
UTSW |
6 |
122,036,014 (GRCm39) |
missense |
probably benign |
|
|
R1239:Mug2
|
UTSW |
6 |
122,058,637 (GRCm39) |
splice site |
probably benign |
|
|
R1318:Mug2
|
UTSW |
6 |
122,054,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Mug2
|
UTSW |
6 |
122,017,492 (GRCm39) |
splice site |
probably benign |
|
|
R1706:Mug2
|
UTSW |
6 |
122,013,191 (GRCm39) |
splice site |
probably benign |
|
|
R1761:Mug2
|
UTSW |
6 |
122,051,664 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1901:Mug2
|
UTSW |
6 |
122,048,801 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1913:Mug2
|
UTSW |
6 |
122,047,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Mug2
|
UTSW |
6 |
122,056,598 (GRCm39) |
missense |
probably benign |
|
|
R2054:Mug2
|
UTSW |
6 |
122,054,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Mug2
|
UTSW |
6 |
122,056,571 (GRCm39) |
missense |
probably benign |
|
|
R2420:Mug2
|
UTSW |
6 |
122,060,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2432:Mug2
|
UTSW |
6 |
122,061,335 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2916:Mug2
|
UTSW |
6 |
122,051,683 (GRCm39) |
splice site |
probably null |
|
|
R2918:Mug2
|
UTSW |
6 |
122,051,683 (GRCm39) |
splice site |
probably null |
|
|
R3423:Mug2
|
UTSW |
6 |
122,024,465 (GRCm39) |
splice site |
probably benign |
|
|
R3834:Mug2
|
UTSW |
6 |
122,026,746 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3902:Mug2
|
UTSW |
6 |
122,052,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3941:Mug2
|
UTSW |
6 |
122,040,522 (GRCm39) |
missense |
probably benign |
|
|
R4227:Mug2
|
UTSW |
6 |
122,017,691 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4284:Mug2
|
UTSW |
6 |
122,040,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4287:Mug2
|
UTSW |
6 |
122,040,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4377:Mug2
|
UTSW |
6 |
122,047,966 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4419:Mug2
|
UTSW |
6 |
122,056,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4498:Mug2
|
UTSW |
6 |
122,059,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4566:Mug2
|
UTSW |
6 |
122,056,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4690:Mug2
|
UTSW |
6 |
122,013,255 (GRCm39) |
missense |
probably benign |
|
|
R4732:Mug2
|
UTSW |
6 |
122,048,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4733:Mug2
|
UTSW |
6 |
122,048,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4741:Mug2
|
UTSW |
6 |
122,056,572 (GRCm39) |
missense |
probably benign |
|
|
R4888:Mug2
|
UTSW |
6 |
122,058,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5199:Mug2
|
UTSW |
6 |
122,017,619 (GRCm39) |
missense |
probably benign |
|
|
R5347:Mug2
|
UTSW |
6 |
122,058,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Mug2
|
UTSW |
6 |
122,026,688 (GRCm39) |
nonsense |
probably null |
|
|
R5495:Mug2
|
UTSW |
6 |
122,056,609 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5509:Mug2
|
UTSW |
6 |
122,061,340 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6006:Mug2
|
UTSW |
6 |
122,060,459 (GRCm39) |
missense |
probably null |
0.98 |
|
R6180:Mug2
|
UTSW |
6 |
122,056,565 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6184:Mug2
|
UTSW |
6 |
122,014,005 (GRCm39) |
missense |
probably benign |
|
|
R6199:Mug2
|
UTSW |
6 |
122,024,398 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6262:Mug2
|
UTSW |
6 |
122,052,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Mug2
|
UTSW |
6 |
122,059,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6548:Mug2
|
UTSW |
6 |
122,024,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Mug2
|
UTSW |
6 |
122,055,653 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7106:Mug2
|
UTSW |
6 |
122,059,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Mug2
|
UTSW |
6 |
122,052,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7372:Mug2
|
UTSW |
6 |
122,060,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7379:Mug2
|
UTSW |
6 |
122,024,446 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7419:Mug2
|
UTSW |
6 |
122,017,529 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7423:Mug2
|
UTSW |
6 |
122,056,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7581:Mug2
|
UTSW |
6 |
122,040,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Mug2
|
UTSW |
6 |
122,056,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7672:Mug2
|
UTSW |
6 |
122,017,678 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7713:Mug2
|
UTSW |
6 |
122,055,754 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7759:Mug2
|
UTSW |
6 |
122,058,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Mug2
|
UTSW |
6 |
122,013,241 (GRCm39) |
missense |
probably benign |
|
|
R7850:Mug2
|
UTSW |
6 |
122,052,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Mug2
|
UTSW |
6 |
122,058,504 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8127:Mug2
|
UTSW |
6 |
122,052,567 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8335:Mug2
|
UTSW |
6 |
122,017,543 (GRCm39) |
missense |
probably benign |
|
|
R8348:Mug2
|
UTSW |
6 |
122,049,192 (GRCm39) |
nonsense |
probably null |
|
|
R8557:Mug2
|
UTSW |
6 |
122,040,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8798:Mug2
|
UTSW |
6 |
122,058,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8823:Mug2
|
UTSW |
6 |
122,040,648 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9029:Mug2
|
UTSW |
6 |
122,061,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9185:Mug2
|
UTSW |
6 |
122,054,442 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9186:Mug2
|
UTSW |
6 |
122,052,248 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9418:Mug2
|
UTSW |
6 |
122,017,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9464:Mug2
|
UTSW |
6 |
122,028,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9622:Mug2
|
UTSW |
6 |
122,028,751 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1177:Mug2
|
UTSW |
6 |
122,014,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCTAGGCAATCTACAGC -3'
(R):5'- CCCAGATAGAACCCAATGTGTATAGAG -3'
Sequencing Primer
(F):5'- AGGCAATCTACAGCATAGTATTTTG -3'
(R):5'- CCCAATGTGTATAGAGAGACAAGGTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation