Incidental Mutation 'R4690:Mug2'
ID |
354840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mug2
|
Ensembl Gene |
ENSMUSG00000030131 |
Gene Name |
murinoglobulin 2 |
Synonyms |
|
MMRRC Submission |
041941-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R4690 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
121983720-122062924 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 122013255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 341
(I341L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081777]
|
AlphaFold |
P28666 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081777
AA Change: I341L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000080469 Gene: ENSMUSG00000030131 AA Change: I341L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204290
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
98% (89/91) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,039,706 (GRCm39) |
F436L |
probably damaging |
Het |
Adam28 |
G |
T |
14: 68,879,497 (GRCm39) |
Q184K |
probably benign |
Het |
Adh6a |
A |
G |
3: 138,031,932 (GRCm39) |
T275A |
possibly damaging |
Het |
Agap2 |
A |
G |
10: 126,927,244 (GRCm39) |
D1082G |
possibly damaging |
Het |
Alox5 |
A |
T |
6: 116,400,150 (GRCm39) |
V263E |
probably damaging |
Het |
Arhgef16 |
C |
T |
4: 154,372,420 (GRCm39) |
|
probably null |
Het |
Bspry |
G |
A |
4: 62,404,762 (GRCm39) |
R186Q |
probably damaging |
Het |
Ccdc188 |
T |
A |
16: 18,036,159 (GRCm39) |
H111Q |
probably damaging |
Het |
Cd40 |
T |
C |
2: 164,911,615 (GRCm39) |
F209S |
possibly damaging |
Het |
Cfap43 |
C |
A |
19: 47,736,298 (GRCm39) |
V1398L |
probably benign |
Het |
Cln3 |
A |
T |
7: 126,174,565 (GRCm39) |
I286N |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,263,787 (GRCm39) |
|
probably null |
Het |
Cpne9 |
A |
G |
6: 113,279,016 (GRCm39) |
E470G |
probably damaging |
Het |
Cul5 |
A |
T |
9: 53,534,171 (GRCm39) |
W654R |
probably damaging |
Het |
Cyp2a22 |
T |
A |
7: 26,638,634 (GRCm39) |
K51* |
probably null |
Het |
Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
Dot1l |
C |
A |
10: 80,622,016 (GRCm39) |
S556* |
probably null |
Het |
Eif3d |
A |
T |
15: 77,851,516 (GRCm39) |
M98K |
probably benign |
Het |
Fiz1 |
A |
G |
7: 5,012,167 (GRCm39) |
V117A |
probably benign |
Het |
Fryl |
A |
G |
5: 73,257,636 (GRCm39) |
V722A |
probably benign |
Het |
Ftdc1 |
G |
A |
16: 58,434,333 (GRCm39) |
T128I |
probably benign |
Het |
Gm3095 |
G |
T |
14: 3,964,471 (GRCm38) |
R63I |
probably benign |
Het |
Gm7133 |
A |
T |
1: 97,197,224 (GRCm39) |
|
noncoding transcript |
Het |
Hoxb8 |
A |
T |
11: 96,175,286 (GRCm39) |
D241V |
probably benign |
Het |
Hrnr |
A |
G |
3: 93,230,959 (GRCm39) |
Q399R |
unknown |
Het |
Itpk1 |
A |
T |
12: 102,572,434 (GRCm39) |
V93D |
probably damaging |
Het |
Kars1 |
C |
T |
8: 112,729,216 (GRCm39) |
A164T |
probably benign |
Het |
Kcnq4 |
A |
T |
4: 120,574,208 (GRCm39) |
I150N |
probably damaging |
Het |
Kcnrg |
A |
T |
14: 61,849,176 (GRCm39) |
L212F |
probably damaging |
Het |
Kif5b |
A |
T |
18: 6,216,759 (GRCm39) |
D521E |
probably benign |
Het |
Klf11 |
C |
T |
12: 24,705,071 (GRCm39) |
T158M |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,776,034 (GRCm39) |
I175V |
probably benign |
Het |
Lsm1 |
A |
G |
8: 26,283,708 (GRCm39) |
N40S |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,567,576 (GRCm39) |
E1715G |
unknown |
Het |
Mecom |
C |
A |
3: 30,292,459 (GRCm39) |
A4S |
probably benign |
Het |
Muc5b |
G |
A |
7: 141,396,031 (GRCm39) |
V96M |
unknown |
Het |
Mxra7 |
A |
T |
11: 116,707,078 (GRCm39) |
|
probably null |
Het |
Myo5a |
T |
C |
9: 75,061,105 (GRCm39) |
L537P |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,855,533 (GRCm39) |
N1241Y |
probably damaging |
Het |
Naa16 |
T |
C |
14: 79,582,497 (GRCm39) |
R531G |
probably damaging |
Het |
Neb |
T |
A |
2: 52,134,087 (GRCm39) |
M3299L |
probably benign |
Het |
Nlrp4b |
T |
A |
7: 10,453,130 (GRCm39) |
Y76N |
probably benign |
Het |
Nmral1 |
T |
C |
16: 4,534,205 (GRCm39) |
T79A |
probably damaging |
Het |
Noct |
C |
T |
3: 51,155,300 (GRCm39) |
Q23* |
probably null |
Het |
Nrxn1 |
A |
T |
17: 90,344,509 (GRCm39) |
V438D |
probably damaging |
Het |
Or5b109 |
A |
C |
19: 13,212,132 (GRCm39) |
N173H |
possibly damaging |
Het |
Or5m9 |
T |
A |
2: 85,877,242 (GRCm39) |
C139S |
probably damaging |
Het |
Oxct2a |
T |
C |
4: 123,216,836 (GRCm39) |
T182A |
probably benign |
Het |
Pank2 |
T |
C |
2: 131,115,945 (GRCm39) |
I121T |
probably damaging |
Het |
Pcdh1 |
T |
A |
18: 38,336,528 (GRCm39) |
T36S |
probably benign |
Het |
Pfdn1 |
A |
T |
18: 36,584,133 (GRCm39) |
M67K |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,058,456 (GRCm39) |
E3849G |
probably damaging |
Het |
Polr3a |
A |
T |
14: 24,514,349 (GRCm39) |
S817T |
possibly damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,012,707 (GRCm39) |
D401E |
probably damaging |
Het |
Ppp1r13b |
T |
A |
12: 111,798,992 (GRCm39) |
D891V |
probably damaging |
Het |
Prr14l |
A |
G |
5: 33,001,500 (GRCm39) |
|
probably benign |
Het |
Ptk2b |
A |
G |
14: 66,410,749 (GRCm39) |
|
probably null |
Het |
Rab13 |
G |
C |
3: 90,128,330 (GRCm39) |
|
probably null |
Het |
Rexo1 |
C |
T |
10: 80,382,255 (GRCm39) |
A751T |
probably benign |
Het |
Rfx1 |
T |
C |
8: 84,809,374 (GRCm39) |
V233A |
possibly damaging |
Het |
Rnf149 |
C |
T |
1: 39,616,295 (GRCm39) |
|
probably benign |
Het |
Rrm1 |
A |
G |
7: 102,097,086 (GRCm39) |
D122G |
probably benign |
Het |
Serpina1b |
A |
G |
12: 103,698,639 (GRCm39) |
F70S |
probably damaging |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,649,526 (GRCm39) |
S44P |
possibly damaging |
Het |
Shroom1 |
A |
G |
11: 53,356,549 (GRCm39) |
T471A |
possibly damaging |
Het |
Slc6a1 |
A |
G |
6: 114,279,792 (GRCm39) |
Y152C |
probably damaging |
Het |
Spata31f3 |
T |
A |
4: 42,873,032 (GRCm39) |
|
probably null |
Het |
Spata6 |
A |
T |
4: 111,632,023 (GRCm39) |
T145S |
probably damaging |
Het |
Srcap |
G |
A |
7: 127,137,186 (GRCm39) |
G956D |
probably damaging |
Het |
Ssh2 |
A |
T |
11: 77,346,031 (GRCm39) |
I1339F |
possibly damaging |
Het |
Tardbp |
A |
T |
4: 148,697,078 (GRCm39) |
*99K |
probably null |
Het |
Tbc1d22a |
A |
G |
15: 86,196,037 (GRCm39) |
Y336C |
probably damaging |
Het |
Tmcc3 |
G |
A |
10: 94,381,419 (GRCm39) |
|
probably benign |
Het |
Tmem178b |
T |
G |
6: 40,222,547 (GRCm39) |
D87E |
probably benign |
Het |
Tmem184a |
A |
C |
5: 139,791,377 (GRCm39) |
S380A |
probably benign |
Het |
Tnfaip2 |
A |
G |
12: 111,411,682 (GRCm39) |
K84R |
possibly damaging |
Het |
Tpgs1 |
A |
G |
10: 79,511,235 (GRCm39) |
T126A |
probably benign |
Het |
Traf3ip1 |
A |
G |
1: 91,447,834 (GRCm39) |
E437G |
possibly damaging |
Het |
Trpc4ap |
C |
T |
2: 155,477,053 (GRCm39) |
C755Y |
probably damaging |
Het |
Tsfm |
A |
G |
10: 126,866,547 (GRCm39) |
|
probably benign |
Het |
Tulp1 |
A |
C |
17: 28,570,811 (GRCm39) |
|
probably benign |
Het |
Vmn1r23 |
A |
T |
6: 57,903,010 (GRCm39) |
M256K |
probably benign |
Het |
Zdhhc8 |
T |
C |
16: 18,044,605 (GRCm39) |
D305G |
probably damaging |
Het |
Zfp326 |
G |
A |
5: 106,054,942 (GRCm39) |
R282H |
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 |
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'- TGAAGCTGTGAAAACTGACACG -3'
(R):5'- TGGAGCCTCCAGATAACCTAAG -3'
Sequencing Primer
(F):5'- GCTGTGAAAACTGACACGTTTTC -3'
(R):5'- GGAGCCTCCAGATAACCTAAGTCTTC -3'
|
Posted On |
2015-10-21 |