Incidental Mutation 'R0114:Mug2'
ID |
20641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mug2
|
Ensembl Gene |
ENSMUSG00000030131 |
Gene Name |
murinoglobulin 2 |
Synonyms |
|
MMRRC Submission |
038400-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R0114 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
6 |
Chromosomal Location |
121983720-122062924 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122017607 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 448
(Y448C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081777]
|
AlphaFold |
P28666 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081777
AA Change: Y448C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080469 Gene: ENSMUSG00000030131 AA Change: Y448C
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 93.2%
- 20x: 79.2%
|
Validation Efficiency |
100% (99/99) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
T |
C |
10: 28,861,978 (GRCm39) |
|
probably benign |
Het |
4933427D14Rik |
T |
C |
11: 72,086,625 (GRCm39) |
Y262C |
probably damaging |
Het |
Adamts1 |
C |
A |
16: 85,596,502 (GRCm39) |
V379L |
probably benign |
Het |
Akt3 |
T |
C |
1: 176,894,817 (GRCm39) |
D260G |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,596,785 (GRCm39) |
L537P |
probably benign |
Het |
Anln |
A |
T |
9: 22,264,642 (GRCm39) |
I876N |
probably damaging |
Het |
Ano9 |
A |
T |
7: 140,683,152 (GRCm39) |
|
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,311,194 (GRCm39) |
E218G |
probably benign |
Het |
Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
Atp9a |
G |
T |
2: 168,552,776 (GRCm39) |
Y63* |
probably null |
Het |
Bmpr2 |
G |
T |
1: 59,854,499 (GRCm39) |
C116F |
probably damaging |
Het |
Cand1 |
T |
C |
10: 119,052,427 (GRCm39) |
D233G |
probably benign |
Het |
Cftr |
A |
T |
6: 18,282,447 (GRCm39) |
H1049L |
probably damaging |
Het |
Ckap5 |
A |
T |
2: 91,450,457 (GRCm39) |
D1975V |
possibly damaging |
Het |
Cyp26c1 |
T |
C |
19: 37,675,081 (GRCm39) |
V134A |
probably benign |
Het |
Dnai1 |
T |
C |
4: 41,605,686 (GRCm39) |
|
probably benign |
Het |
Dpp10 |
T |
C |
1: 123,413,821 (GRCm39) |
I163V |
probably benign |
Het |
Fam151a |
A |
T |
4: 106,591,201 (GRCm39) |
I15F |
possibly damaging |
Het |
Fanca |
A |
T |
8: 124,015,230 (GRCm39) |
|
probably null |
Het |
Fes |
A |
G |
7: 80,027,783 (GRCm39) |
V787A |
probably damaging |
Het |
Fnip1 |
C |
T |
11: 54,378,627 (GRCm39) |
|
probably benign |
Het |
Gabpb1 |
A |
G |
2: 126,495,494 (GRCm39) |
I86T |
probably damaging |
Het |
Gmds |
A |
T |
13: 32,411,264 (GRCm39) |
S57T |
probably benign |
Het |
Gnpat |
T |
G |
8: 125,610,096 (GRCm39) |
D426E |
probably benign |
Het |
Gnptab |
C |
A |
10: 88,269,262 (GRCm39) |
P655Q |
possibly damaging |
Het |
Gpi-ps |
A |
G |
8: 5,690,359 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
T |
A |
9: 66,369,128 (GRCm39) |
F2941I |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,803,522 (GRCm39) |
|
probably benign |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Itga11 |
T |
G |
9: 62,642,575 (GRCm39) |
V166G |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,667,584 (GRCm39) |
V639A |
possibly damaging |
Het |
Itpr2 |
A |
G |
6: 146,214,377 (GRCm39) |
F1490S |
probably damaging |
Het |
Lama2 |
C |
A |
10: 26,869,064 (GRCm39) |
E802* |
probably null |
Het |
Lgi3 |
C |
T |
14: 70,768,469 (GRCm39) |
|
probably benign |
Het |
Limch1 |
C |
T |
5: 67,193,427 (GRCm39) |
|
probably benign |
Het |
Lipc |
T |
C |
9: 70,711,063 (GRCm39) |
N363S |
probably damaging |
Het |
Lrit2 |
A |
G |
14: 36,790,002 (GRCm39) |
|
probably null |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,954,839 (GRCm39) |
E450G |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,875,242 (GRCm39) |
T1549S |
probably benign |
Het |
Naa15 |
T |
C |
3: 51,355,859 (GRCm39) |
|
probably null |
Het |
Nckap1l |
T |
A |
15: 103,363,455 (GRCm39) |
C54S |
probably benign |
Het |
Nlrp9b |
A |
G |
7: 19,757,981 (GRCm39) |
D406G |
probably benign |
Het |
Nprl3 |
T |
A |
11: 32,189,784 (GRCm39) |
|
probably benign |
Het |
Nvl |
A |
G |
1: 180,947,956 (GRCm39) |
V429A |
probably benign |
Het |
Opa1 |
A |
T |
16: 29,448,453 (GRCm39) |
N912Y |
probably benign |
Het |
Or14j3 |
A |
T |
17: 37,900,306 (GRCm39) |
*313K |
probably null |
Het |
Or1x2 |
G |
A |
11: 50,918,431 (GRCm39) |
V201I |
probably benign |
Het |
Or52b4i |
A |
T |
7: 102,191,938 (GRCm39) |
Q265L |
probably benign |
Het |
Or6c211 |
T |
A |
10: 129,505,467 (GRCm39) |
Y307F |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,042,869 (GRCm39) |
V2317A |
possibly damaging |
Het |
Phf3 |
A |
T |
1: 30,844,524 (GRCm39) |
N1478K |
possibly damaging |
Het |
Phykpl |
G |
A |
11: 51,477,480 (GRCm39) |
D91N |
probably benign |
Het |
Polr2b |
T |
A |
5: 77,491,110 (GRCm39) |
C984S |
probably damaging |
Het |
Ppfibp1 |
A |
G |
6: 146,899,731 (GRCm39) |
R141G |
probably benign |
Het |
Ppm1d |
G |
A |
11: 85,217,731 (GRCm39) |
G20R |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Ppp2r5b |
C |
A |
19: 6,278,461 (GRCm39) |
V483F |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,542,633 (GRCm39) |
C132S |
probably benign |
Het |
Prg2 |
A |
G |
2: 84,813,800 (GRCm39) |
|
probably benign |
Het |
Prpf4b |
G |
A |
13: 35,074,471 (GRCm39) |
|
probably benign |
Het |
Rad54l2 |
T |
C |
9: 106,590,654 (GRCm39) |
T491A |
probably damaging |
Het |
Rnf213 |
G |
T |
11: 119,305,413 (GRCm39) |
W548L |
probably damaging |
Het |
Rusc2 |
G |
T |
4: 43,422,055 (GRCm39) |
C825F |
probably damaging |
Het |
Sema4b |
A |
G |
7: 79,868,826 (GRCm39) |
|
probably benign |
Het |
Sema6a |
A |
G |
18: 47,423,244 (GRCm39) |
V254A |
probably damaging |
Het |
Slc13a3 |
A |
G |
2: 165,266,501 (GRCm39) |
F346L |
probably damaging |
Het |
Slc25a17 |
T |
C |
15: 81,222,160 (GRCm39) |
D104G |
probably damaging |
Het |
Specc1 |
A |
T |
11: 62,037,139 (GRCm39) |
N707Y |
possibly damaging |
Het |
Tex48 |
T |
A |
4: 63,526,696 (GRCm39) |
E76V |
probably damaging |
Het |
Tfr2 |
T |
C |
5: 137,575,727 (GRCm39) |
V281A |
probably benign |
Het |
Tgfb1i1 |
A |
C |
7: 127,848,666 (GRCm39) |
Q238H |
probably damaging |
Het |
Thoc6 |
G |
A |
17: 23,889,213 (GRCm39) |
T122I |
probably benign |
Het |
Tmtc1 |
G |
A |
6: 148,314,328 (GRCm39) |
|
probably benign |
Het |
Tnfrsf8 |
T |
C |
4: 145,014,617 (GRCm39) |
D264G |
possibly damaging |
Het |
Trim43a |
T |
A |
9: 88,466,213 (GRCm39) |
I178N |
probably damaging |
Het |
Ttn |
G |
C |
2: 76,537,437 (GRCm39) |
I26503M |
possibly damaging |
Het |
Usp28 |
C |
A |
9: 48,950,323 (GRCm39) |
D589E |
probably benign |
Het |
Utp23 |
T |
C |
15: 51,745,907 (GRCm39) |
S242P |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,374,603 (GRCm39) |
Y305C |
probably benign |
Het |
Vwa5b1 |
C |
A |
4: 138,336,169 (GRCm39) |
E142* |
probably null |
Het |
Xrn2 |
A |
T |
2: 146,871,699 (GRCm39) |
T374S |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,601,488 (GRCm39) |
Q144L |
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 |
|
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 |
R9153:Mug2
|
UTSW |
6 |
122,017,627 (GRCm39) |
missense |
possibly damaging |
0.71 |
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'- GCCAGCAGGAGACATAGGATTTCATTG -3'
(R):5'- TTGTTTCACTTTGGAGCCAGTACTCAC -3'
Sequencing Primer
(F):5'- GCACAATAAATGGTTCCTTTGTCTC -3'
(R):5'- GCCAGTACTCACCAGGTAGTAG -3'
|
Posted On |
2013-04-11 |