Incidental Mutation 'R7672:Mug2'
ID |
592228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mug2
|
Ensembl Gene |
ENSMUSG00000030131 |
Gene Name |
murinoglobulin 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R7672 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
121983720-122062924 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122017678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 472
(I472V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081777]
|
AlphaFold |
P28666 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081777
AA Change: I472V
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000080469 Gene: ENSMUSG00000030131 AA Change: I472V
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
T |
C |
7: 127,836,191 (GRCm39) |
H134R |
probably damaging |
Het |
Adcy4 |
A |
G |
14: 56,018,362 (GRCm39) |
M195T |
probably benign |
Het |
Aktip |
T |
C |
8: 91,856,285 (GRCm39) |
N64S |
possibly damaging |
Het |
Aldoart1 |
C |
A |
4: 72,770,747 (GRCm39) |
M20I |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,592,333 (GRCm39) |
L395P |
probably damaging |
Het |
Ankrd9 |
C |
A |
12: 110,943,180 (GRCm39) |
V252F |
probably benign |
Het |
Apof |
A |
T |
10: 128,104,885 (GRCm39) |
H13L |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,174,172 (GRCm39) |
F1644S |
possibly damaging |
Het |
Baz2a |
A |
G |
10: 127,959,726 (GRCm39) |
D1377G |
possibly damaging |
Het |
Bbox1 |
T |
A |
2: 110,135,794 (GRCm39) |
I62F |
probably damaging |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
TCTGTGGTCACTGGT |
TCTGTGGTCACTGGTGCTGTGGTCACTGGT |
3: 95,795,487 (GRCm39) |
|
probably benign |
Het |
BC028528 |
GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG |
GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG |
3: 95,795,455 (GRCm39) |
|
probably benign |
Het |
Bcas3 |
C |
T |
11: 85,286,213 (GRCm39) |
R124* |
probably null |
Het |
Bpnt1 |
T |
C |
1: 185,078,879 (GRCm39) |
V114A |
probably damaging |
Het |
Ccnd1 |
C |
T |
7: 144,487,793 (GRCm39) |
R228H |
possibly damaging |
Het |
Cd244a |
T |
C |
1: 171,404,853 (GRCm39) |
V235A |
probably benign |
Het |
Cramp1 |
C |
T |
17: 25,201,440 (GRCm39) |
E681K |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,902,574 (GRCm39) |
A2222T |
probably benign |
Het |
Cyp1a2 |
T |
A |
9: 57,589,620 (GRCm39) |
T65S |
probably benign |
Het |
Cyp26b1 |
T |
G |
6: 84,561,351 (GRCm39) |
K104Q |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,071,581 (GRCm39) |
I556V |
probably benign |
Het |
Dnase1l2 |
A |
G |
17: 24,661,219 (GRCm39) |
L102P |
probably damaging |
Het |
Eef1ece2 |
C |
A |
16: 20,457,417 (GRCm39) |
A483E |
probably damaging |
Het |
Elac1 |
C |
T |
18: 73,871,925 (GRCm39) |
G357S |
probably benign |
Het |
Enam |
C |
A |
5: 88,651,830 (GRCm39) |
T1113N |
possibly damaging |
Het |
Eogt |
A |
T |
6: 97,090,870 (GRCm39) |
I423N |
probably damaging |
Het |
Epc2 |
T |
C |
2: 49,435,831 (GRCm39) |
S612P |
possibly damaging |
Het |
Fam107b |
T |
C |
2: 3,773,959 (GRCm39) |
V24A |
probably damaging |
Het |
Fhip2a |
A |
G |
19: 57,373,750 (GRCm39) |
H670R |
possibly damaging |
Het |
Foxj3 |
C |
T |
4: 119,477,429 (GRCm39) |
P413L |
unknown |
Het |
Frg1 |
T |
C |
8: 41,870,040 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,820,455 (GRCm39) |
V5396D |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,364,821 (GRCm39) |
T149A |
possibly damaging |
Het |
Heatr1 |
A |
T |
13: 12,453,545 (GRCm39) |
Q2140L |
probably damaging |
Het |
Iqcd |
T |
C |
5: 120,744,881 (GRCm39) |
L403P |
probably damaging |
Het |
Kifbp |
A |
G |
10: 62,413,852 (GRCm39) |
I102T |
probably benign |
Het |
Kpna2 |
T |
G |
11: 106,879,789 (GRCm39) |
N505T |
probably benign |
Het |
Lipo3 |
T |
A |
19: 33,757,785 (GRCm39) |
E228V |
probably benign |
Het |
Map4k3 |
C |
T |
17: 80,922,500 (GRCm39) |
V474I |
possibly damaging |
Het |
Mrpl11 |
T |
C |
19: 5,012,424 (GRCm39) |
S2P |
probably damaging |
Het |
Myom1 |
G |
A |
17: 71,391,235 (GRCm39) |
V915M |
possibly damaging |
Het |
Nedd9 |
A |
T |
13: 41,492,198 (GRCm39) |
I104N |
possibly damaging |
Het |
Nphp3 |
A |
G |
9: 103,909,159 (GRCm39) |
M790V |
probably benign |
Het |
Nr3c2 |
C |
T |
8: 77,635,838 (GRCm39) |
P313L |
probably damaging |
Het |
Obsl1 |
A |
G |
1: 75,469,365 (GRCm39) |
V1192A |
probably benign |
Het |
Or10j2 |
C |
T |
1: 173,098,440 (GRCm39) |
R233W |
probably benign |
Het |
Or52e7 |
A |
G |
7: 104,684,750 (GRCm39) |
H115R |
probably damaging |
Het |
Or5t16 |
T |
C |
2: 86,818,663 (GRCm39) |
I286V |
possibly damaging |
Het |
Prr5l |
T |
G |
2: 101,565,083 (GRCm39) |
E151A |
probably damaging |
Het |
Psmb8 |
G |
T |
17: 34,417,404 (GRCm39) |
R11L |
probably benign |
Het |
Ptprg |
T |
A |
14: 12,211,668 (GRCm38) |
H983Q |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,290,940 (GRCm39) |
N600D |
possibly damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
Rc3h1 |
A |
G |
1: 160,778,454 (GRCm39) |
S460G |
probably damaging |
Het |
Rhot2 |
A |
G |
17: 26,062,079 (GRCm39) |
|
probably null |
Het |
Sall1 |
T |
C |
8: 89,757,927 (GRCm39) |
T726A |
probably damaging |
Het |
Samd9l |
G |
A |
6: 3,373,646 (GRCm39) |
T1205I |
probably benign |
Het |
Sh2b3 |
C |
T |
5: 121,956,822 (GRCm39) |
|
probably null |
Het |
Slc22a18 |
G |
T |
7: 143,044,557 (GRCm39) |
C170F |
probably damaging |
Het |
Slc24a1 |
G |
A |
9: 64,855,209 (GRCm39) |
T566I |
unknown |
Het |
Slc4a5 |
T |
A |
6: 83,237,517 (GRCm39) |
C167S |
probably damaging |
Het |
Slc8b1 |
T |
G |
5: 120,671,100 (GRCm39) |
V579G |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,063,822 (GRCm39) |
V667A |
probably damaging |
Het |
Sp8 |
C |
A |
12: 118,813,070 (GRCm39) |
S308R |
possibly damaging |
Het |
Srsf9 |
T |
A |
5: 115,468,619 (GRCm39) |
V85E |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,168,527 (GRCm39) |
I5285V |
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,947,069 (GRCm39) |
I115V |
probably benign |
Het |
Triqk |
A |
G |
4: 12,980,502 (GRCm39) |
D82G |
probably benign |
Het |
Trmt11 |
A |
T |
10: 30,463,520 (GRCm39) |
S198R |
probably damaging |
Het |
Ube4b |
C |
T |
4: 149,471,661 (GRCm39) |
R75Q |
probably benign |
Het |
Ugt3a1 |
C |
T |
15: 9,310,779 (GRCm39) |
Q354* |
probably null |
Het |
Vmn1r202 |
A |
G |
13: 22,685,850 (GRCm39) |
V189A |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,016,606 (GRCm39) |
I357V |
probably benign |
Het |
Wdr6 |
T |
C |
9: 108,450,947 (GRCm39) |
K914R |
probably benign |
Het |
Zfat |
T |
C |
15: 68,130,535 (GRCm39) |
M1V |
probably null |
Het |
Zfp207 |
A |
G |
11: 80,280,116 (GRCm39) |
M171V |
probably benign |
Het |
Zfp568 |
C |
T |
7: 29,697,212 (GRCm39) |
T44I |
probably damaging |
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 |
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'- ATTCTGTCTGCTAGGCAATCTAC -3'
(R):5'- TAGAACCCAATGTGTATAGAGAGAC -3'
Sequencing Primer
(F):5'- GTCTGCTAGGCAATCTACAGCATAG -3'
(R):5'- CCCAATGTGTATAGAGAGACAAGGTC -3'
|
Posted On |
2019-11-12 |