Incidental Mutation 'R9622:Mug2'
| ID |
724866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mug2
|
| Ensembl Gene |
ENSMUSG00000030131 |
| Gene Name |
murinoglobulin 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R9622 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
121983720-122062924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122028751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 582
(S582P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081777]
|
| AlphaFold |
P28666 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081777
AA Change: S582P
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: S582P
| 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: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
A |
G |
5: 36,006,889 (GRCm39) |
K435E |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,395,785 (GRCm39) |
T412A |
probably damaging |
Het |
| Aldh3b2 |
T |
A |
19: 4,029,489 (GRCm39) |
D287E |
probably benign |
Het |
| Asphd1 |
G |
A |
7: 126,547,974 (GRCm39) |
P110S |
|
Het |
| Atg7 |
T |
C |
6: 114,654,993 (GRCm39) |
L142P |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,239,277 (GRCm39) |
I796V |
|
Het |
| Bbx |
A |
G |
16: 50,095,022 (GRCm39) |
V98A |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,480,410 (GRCm39) |
S2727P |
probably damaging |
Het |
| Camk1 |
T |
A |
6: 113,318,850 (GRCm39) |
D21V |
possibly damaging |
Het |
| Cdc5l |
A |
T |
17: 45,715,709 (GRCm39) |
D634E |
probably benign |
Het |
| Cfap418 |
T |
C |
4: 10,893,304 (GRCm39) |
I141T |
possibly damaging |
Het |
| Cyfip1 |
A |
T |
7: 55,528,853 (GRCm39) |
D275V |
possibly damaging |
Het |
| Cyp4a30b |
A |
G |
4: 115,328,162 (GRCm39) |
E477G |
probably damaging |
Het |
| Cyp4f16 |
C |
T |
17: 32,769,246 (GRCm39) |
P379S |
probably damaging |
Het |
| Dchs2 |
C |
T |
3: 83,263,766 (GRCm39) |
Q3345* |
probably null |
Het |
| Dnaaf1 |
A |
G |
8: 120,315,001 (GRCm39) |
T270A |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,561,356 (GRCm39) |
V334A |
|
Het |
| Dnhd1 |
T |
C |
7: 105,353,342 (GRCm39) |
F2832L |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,098,545 (GRCm39) |
N623S |
probably null |
Het |
| Eif4enif1 |
T |
C |
11: 3,165,714 (GRCm39) |
I97T |
probably benign |
Het |
| Elmo1 |
C |
G |
13: 20,392,310 (GRCm39) |
P29A |
probably benign |
Het |
| Erich6 |
G |
C |
3: 58,544,162 (GRCm39) |
P142A |
possibly damaging |
Het |
| Fam135b |
T |
C |
15: 71,397,686 (GRCm39) |
R125G |
probably damaging |
Het |
| Fcrla |
T |
A |
1: 170,749,808 (GRCm39) |
H83L |
probably damaging |
Het |
| Flt3 |
C |
T |
5: 147,303,841 (GRCm39) |
E366K |
possibly damaging |
Het |
| Gabbr2 |
C |
T |
4: 46,724,283 (GRCm39) |
|
probably null |
Het |
| Gigyf1 |
T |
A |
5: 137,522,926 (GRCm39) |
L809* |
probably null |
Het |
| Glg1 |
C |
T |
8: 111,899,133 (GRCm39) |
G711R |
probably damaging |
Het |
| Gp1bb |
T |
C |
16: 18,439,527 (GRCm39) |
E189G |
probably benign |
Het |
| H2-Q1 |
A |
T |
17: 35,542,532 (GRCm39) |
I326F |
probably benign |
Het |
| Hoxb3 |
A |
T |
11: 96,235,420 (GRCm39) |
K116* |
probably null |
Het |
| Kcnb1 |
T |
C |
2: 167,030,161 (GRCm39) |
Y128C |
probably damaging |
Het |
| Kif5b |
G |
A |
18: 6,225,672 (GRCm39) |
R171C |
probably damaging |
Het |
| Lcn4 |
G |
A |
2: 26,561,228 (GRCm39) |
Q18* |
probably null |
Het |
| Lrp1b |
G |
A |
2: 40,779,354 (GRCm39) |
Q2677* |
probably null |
Het |
| Map4k3 |
T |
A |
17: 80,958,538 (GRCm39) |
T145S |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,060,898 (GRCm39) |
E175G |
probably benign |
Het |
| Metap2 |
T |
C |
10: 93,707,366 (GRCm39) |
T202A |
probably benign |
Het |
| Mras |
A |
T |
9: 99,275,054 (GRCm39) |
M131K |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,568,169 (GRCm39) |
V1092A |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,848,017 (GRCm39) |
N1085S |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,603,103 (GRCm39) |
T1149A |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,366,373 (GRCm39) |
S1239T |
probably benign |
Het |
| Nkpd1 |
C |
A |
7: 19,257,867 (GRCm39) |
R549S |
probably benign |
Het |
| Or10a3m |
T |
A |
7: 108,312,677 (GRCm39) |
M39K |
probably benign |
Het |
| Or10p1 |
G |
A |
10: 129,444,084 (GRCm39) |
H89Y |
probably benign |
Het |
| Or1j1 |
A |
G |
2: 36,702,621 (GRCm39) |
L161P |
probably damaging |
Het |
| Or51i2 |
T |
A |
7: 103,689,522 (GRCm39) |
V173D |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,711,229 (GRCm39) |
N29D |
probably benign |
Het |
| Pdzrn4 |
T |
C |
15: 92,294,949 (GRCm39) |
W52R |
probably benign |
Het |
| Plekhb1 |
T |
C |
7: 100,304,588 (GRCm39) |
K39E |
probably damaging |
Het |
| Pramel28 |
A |
G |
4: 143,692,348 (GRCm39) |
S218P |
probably benign |
Het |
| Psmb4 |
C |
A |
3: 94,792,285 (GRCm39) |
E212D |
probably benign |
Het |
| Rcc1l |
A |
G |
5: 134,205,348 (GRCm39) |
L69P |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,729,952 (GRCm39) |
R1082G |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,955,115 (GRCm39) |
Y167C |
probably damaging |
Het |
| Sanbr |
T |
A |
11: 23,534,590 (GRCm39) |
K589I |
probably damaging |
Het |
| Sbsn |
GGAAATATGGCAGACAAGTTTGGTCAGGGGGCCCACCATGCTTTTGGTCAGGGCAG |
GG |
7: 30,452,067 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
T |
A |
17: 3,248,170 (GRCm39) |
F1164L |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,438,046 (GRCm39) |
M1940K |
probably benign |
Het |
| Serpinb2 |
A |
G |
1: 107,452,298 (GRCm39) |
N292S |
probably benign |
Het |
| Sparcl1 |
C |
A |
5: 104,234,998 (GRCm39) |
V506L |
possibly damaging |
Het |
| Stt3a |
A |
G |
9: 36,661,025 (GRCm39) |
V262A |
possibly damaging |
Het |
| Syt17 |
C |
A |
7: 118,036,191 (GRCm39) |
M58I |
probably benign |
Het |
| Tas2r134 |
A |
C |
2: 51,518,358 (GRCm39) |
N279T |
possibly damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,609,065 (GRCm39) |
E724G |
probably damaging |
Het |
| Teddm1b |
T |
A |
1: 153,750,620 (GRCm39) |
L143Q |
|
Het |
| Tlk1 |
T |
A |
2: 70,617,281 (GRCm39) |
R66S |
probably damaging |
Het |
| Tmem139 |
A |
T |
6: 42,240,176 (GRCm39) |
|
probably null |
Het |
| Tom1l2 |
T |
C |
11: 60,151,942 (GRCm39) |
Y155C |
possibly damaging |
Het |
| Trmt1l |
C |
A |
1: 151,304,710 (GRCm39) |
S28* |
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,859,918 (GRCm39) |
I679V |
probably benign |
Het |
| Unc13b |
T |
G |
4: 43,172,513 (GRCm39) |
F1114V |
|
Het |
| Vmn2r25 |
T |
A |
6: 123,816,579 (GRCm39) |
D334V |
probably damaging |
Het |
| Vps13c |
T |
G |
9: 67,856,715 (GRCm39) |
Y2581D |
probably damaging |
Het |
| Xkr5 |
A |
G |
8: 18,984,247 (GRCm39) |
S432P |
probably benign |
Het |
| Zc2hc1b |
G |
A |
10: 13,043,677 (GRCm39) |
P73S |
possibly damaging |
Het |
| Zfhx2 |
A |
C |
14: 55,303,483 (GRCm39) |
F1500L |
probably benign |
Het |
| Zfp3 |
T |
G |
11: 70,662,739 (GRCm39) |
S233A |
possibly damaging |
Het |
| Zmat5 |
T |
C |
11: 4,687,453 (GRCm39) |
W169R |
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 |
|
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 |
|
Z1177:Mug2
|
UTSW |
6 |
122,014,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTAAATCAATCCCAGGGG -3'
(R):5'- CCCTAGTGTCTGAACAATCACTG -3'
Sequencing Primer
(F):5'- AACTTCAGTTGTGCTTCTGACAG -3'
(R):5'- ACTGTTTCATCAGAGCCAGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation