Incidental Mutation 'R1934:A2m'
| ID |
215664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A2m
|
| Ensembl Gene |
ENSMUSG00000030111 |
| Gene Name |
alpha-2-macroglobulin |
| Synonyms |
A2mp |
| MMRRC Submission |
039952-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1934 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
121612920-121656197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121626792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 548
(L548P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032203]
|
| AlphaFold |
Q6GQT1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032203
AA Change: L548P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: L548P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:A2M_N
|
134 |
227 |
2.1e-20 |
PFAM |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
A2M_N_2
|
465 |
613 |
2.04e-31 |
SMART |
|
low complexity region
|
722 |
731 |
N/A |
INTRINSIC |
|
A2M
|
738 |
828 |
2.31e-39 |
SMART |
|
Pfam:Thiol-ester_cl
|
961 |
990 |
4.4e-18 |
PFAM |
|
Pfam:A2M_comp
|
1010 |
1266 |
1.4e-98 |
PFAM |
|
A2M_recep
|
1376 |
1463 |
2.69e-40 |
SMART |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,100,909 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
G |
12: 118,871,235 (GRCm39) |
|
probably null |
Het |
| Acacb |
G |
A |
5: 114,336,343 (GRCm39) |
A686T |
probably benign |
Het |
| Acot6 |
T |
C |
12: 84,153,367 (GRCm39) |
V203A |
probably benign |
Het |
| Adam25 |
A |
T |
8: 41,207,922 (GRCm39) |
Y396F |
probably benign |
Het |
| Adamts9 |
A |
G |
6: 92,920,102 (GRCm39) |
L12P |
possibly damaging |
Het |
| Adamtsl2 |
A |
T |
2: 26,979,605 (GRCm39) |
D258V |
probably damaging |
Het |
| Aox4 |
G |
A |
1: 58,285,095 (GRCm39) |
V616I |
probably benign |
Het |
| Ap1m1 |
A |
G |
8: 73,009,637 (GRCm39) |
I382V |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,537,098 (GRCm39) |
R8Q |
probably damaging |
Het |
| Arhgef37 |
T |
G |
18: 61,657,014 (GRCm39) |
E17A |
probably benign |
Het |
| Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
| Arih1 |
T |
C |
9: 59,302,215 (GRCm39) |
D431G |
probably damaging |
Het |
| Astn2 |
C |
T |
4: 65,353,426 (GRCm39) |
V1115M |
probably damaging |
Het |
| Atg7 |
T |
A |
6: 114,678,196 (GRCm39) |
M280K |
probably damaging |
Het |
| Birc2 |
T |
C |
9: 7,854,500 (GRCm39) |
T397A |
possibly damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,396,287 (GRCm39) |
N726S |
probably damaging |
Het |
| Cdadc1 |
A |
T |
14: 59,827,309 (GRCm39) |
S121T |
possibly damaging |
Het |
| Cdh16 |
A |
G |
8: 105,344,595 (GRCm39) |
V7A |
possibly damaging |
Het |
| Cenpb |
A |
G |
2: 131,021,184 (GRCm39) |
S205P |
probably benign |
Het |
| Chsy1 |
T |
C |
7: 65,821,991 (GRCm39) |
V742A |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,511,804 (GRCm39) |
R133* |
probably null |
Het |
| Col18a1 |
A |
C |
10: 76,948,578 (GRCm39) |
S311R |
possibly damaging |
Het |
| Col9a3 |
G |
A |
2: 180,248,927 (GRCm39) |
V260M |
probably damaging |
Het |
| Coq2 |
T |
A |
5: 100,809,731 (GRCm39) |
R17S |
probably damaging |
Het |
| Ctf1 |
A |
G |
7: 127,311,936 (GRCm39) |
R4G |
probably damaging |
Het |
| Cwc27 |
T |
C |
13: 104,768,184 (GRCm39) |
D437G |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,125,289 (GRCm39) |
N430D |
probably damaging |
Het |
| Dars2 |
A |
G |
1: 160,890,811 (GRCm39) |
|
probably null |
Het |
| Dgkz |
A |
T |
2: 91,767,449 (GRCm39) |
M848K |
possibly damaging |
Het |
| Dnhd1 |
T |
G |
7: 105,357,789 (GRCm39) |
V3208G |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,528,963 (GRCm39) |
Y233C |
probably damaging |
Het |
| Edem3 |
A |
T |
1: 151,680,034 (GRCm39) |
D460V |
probably damaging |
Het |
| Ednra |
A |
G |
8: 78,415,747 (GRCm39) |
S167P |
possibly damaging |
Het |
| Eif3m |
A |
T |
2: 104,831,624 (GRCm39) |
V180D |
probably damaging |
Het |
| Fam217a |
T |
A |
13: 35,094,864 (GRCm39) |
R207S |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,806,518 (GRCm39) |
G2162D |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 25,223,335 (GRCm39) |
I894F |
probably benign |
Het |
| Fpgs |
A |
T |
2: 32,577,993 (GRCm39) |
I143N |
probably damaging |
Het |
| Fpr-rs6 |
A |
G |
17: 20,403,152 (GRCm39) |
S70P |
probably benign |
Het |
| Frs2 |
T |
C |
10: 116,914,806 (GRCm39) |
M38V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,810,902 (GRCm39) |
N2407S |
possibly damaging |
Het |
| Gabrg2 |
T |
A |
11: 41,811,297 (GRCm39) |
T283S |
probably benign |
Het |
| Gas2l1 |
T |
A |
11: 5,011,408 (GRCm39) |
T474S |
probably benign |
Het |
| Gli1 |
A |
T |
10: 127,167,108 (GRCm39) |
M715K |
possibly damaging |
Het |
| Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
| Gm5800 |
T |
A |
14: 51,949,396 (GRCm39) |
N183I |
possibly damaging |
Het |
| Gm8674 |
T |
A |
13: 50,055,471 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat3 |
A |
T |
5: 18,224,508 (GRCm39) |
I303F |
possibly damaging |
Het |
| Grin2d |
C |
T |
7: 45,506,251 (GRCm39) |
V547M |
probably damaging |
Het |
| Grpr |
C |
A |
X: 162,332,137 (GRCm39) |
V53L |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,103,347 (GRCm39) |
I1169V |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,946,082 (GRCm39) |
T305A |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,651,796 (GRCm39) |
N309K |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,499,493 (GRCm39) |
D100G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,946,597 (GRCm39) |
K862R |
probably benign |
Het |
| Kif7 |
T |
C |
7: 79,361,286 (GRCm39) |
D135G |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,310,777 (GRCm39) |
D606G |
probably damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,949 (GRCm39) |
|
probably null |
Het |
| Metap1d |
A |
T |
2: 71,352,927 (GRCm39) |
H252L |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,058,251 (GRCm39) |
K909E |
possibly damaging |
Het |
| Mrgprh |
C |
T |
17: 13,095,838 (GRCm39) |
T26I |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,754,310 (GRCm39) |
S937P |
probably benign |
Het |
| Neto2 |
A |
T |
8: 86,397,033 (GRCm39) |
I73N |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,390,347 (GRCm39) |
I196T |
probably benign |
Het |
| Nvl |
T |
G |
1: 180,926,693 (GRCm39) |
T788P |
probably damaging |
Het |
| Or13a25 |
C |
A |
7: 140,247,951 (GRCm39) |
C243* |
probably null |
Het |
| Or2h2 |
A |
T |
17: 37,396,906 (GRCm39) |
D50E |
possibly damaging |
Het |
| Pax3 |
G |
A |
1: 78,080,117 (GRCm39) |
T423I |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,600,007 (GRCm39) |
V2403A |
possibly damaging |
Het |
| Phip |
C |
T |
9: 82,785,235 (GRCm39) |
V827I |
probably benign |
Het |
| Plcb3 |
A |
G |
19: 6,941,977 (GRCm39) |
F285L |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 51,193,675 (GRCm39) |
I16V |
probably benign |
Het |
| Pola2 |
A |
G |
19: 6,003,769 (GRCm39) |
L202P |
probably damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,058,847 (GRCm39) |
N651K |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,485,920 (GRCm39) |
|
probably null |
Het |
| Rasgrf1 |
G |
T |
9: 89,835,966 (GRCm39) |
Q231H |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,131,825 (GRCm39) |
|
probably null |
Het |
| Rccd1 |
T |
A |
7: 79,970,272 (GRCm39) |
N115I |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,352,101 (GRCm39) |
T26S |
possibly damaging |
Het |
| Rpn1 |
T |
A |
6: 88,070,841 (GRCm39) |
V237E |
probably damaging |
Het |
| Sema4f |
G |
T |
6: 82,907,908 (GRCm39) |
P180Q |
probably damaging |
Het |
| Slc36a4 |
T |
C |
9: 15,632,085 (GRCm39) |
V87A |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,917,307 (GRCm39) |
V243E |
possibly damaging |
Het |
| Sos2 |
T |
G |
12: 69,695,315 (GRCm39) |
I141L |
probably damaging |
Het |
| Srbd1 |
A |
G |
17: 86,410,321 (GRCm39) |
V537A |
probably damaging |
Het |
| Sugp1 |
A |
G |
8: 70,509,225 (GRCm39) |
E166G |
possibly damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tshr |
T |
C |
12: 91,503,955 (GRCm39) |
S298P |
probably damaging |
Het |
| Tspan14 |
T |
C |
14: 40,656,209 (GRCm39) |
Y6C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,577,384 (GRCm39) |
V24503E |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,851,045 (GRCm39) |
N1305I |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,083,628 (GRCm39) |
M1V |
probably null |
Het |
| Vps39 |
A |
T |
2: 120,148,558 (GRCm39) |
V873E |
probably damaging |
Het |
| Vstm2a |
A |
T |
11: 16,359,734 (GRCm39) |
D270V |
unknown |
Het |
| Wdr24 |
A |
T |
17: 26,043,240 (GRCm39) |
M21L |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,721,698 (GRCm39) |
T48A |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,444,965 (GRCm39) |
C703R |
probably damaging |
Het |
| Zfp532 |
A |
T |
18: 65,818,682 (GRCm39) |
D1114V |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,592,633 (GRCm39) |
T46A |
probably damaging |
Het |
|
| Other mutations in A2m |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:A2m
|
APN |
6 |
121,621,108 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL00798:A2m
|
APN |
6 |
121,647,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01154:A2m
|
APN |
6 |
121,650,501 (GRCm39) |
nonsense |
probably null |
|
|
IGL01313:A2m
|
APN |
6 |
121,621,969 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01337:A2m
|
APN |
6 |
121,645,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01505:A2m
|
APN |
6 |
121,653,906 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01508:A2m
|
APN |
6 |
121,636,326 (GRCm39) |
nonsense |
probably null |
|
|
IGL01672:A2m
|
APN |
6 |
121,618,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:A2m
|
APN |
6 |
121,644,149 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02012:A2m
|
APN |
6 |
121,651,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:A2m
|
APN |
6 |
121,626,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02234:A2m
|
APN |
6 |
121,645,179 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02397:A2m
|
APN |
6 |
121,623,834 (GRCm39) |
missense |
probably benign |
|
|
IGL02407:A2m
|
APN |
6 |
121,645,575 (GRCm39) |
nonsense |
probably null |
|
|
IGL02408:A2m
|
APN |
6 |
121,621,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02469:A2m
|
APN |
6 |
121,645,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02527:A2m
|
APN |
6 |
121,638,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02612:A2m
|
APN |
6 |
121,654,971 (GRCm39) |
missense |
probably benign |
|
|
IGL02746:A2m
|
APN |
6 |
121,646,462 (GRCm39) |
splice site |
probably benign |
|
|
IGL02952:A2m
|
APN |
6 |
121,654,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03056:A2m
|
APN |
6 |
121,647,862 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03121:A2m
|
APN |
6 |
121,618,265 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03303:A2m
|
APN |
6 |
121,644,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03369:A2m
|
APN |
6 |
121,653,862 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03046:A2m
|
UTSW |
6 |
121,636,282 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0040:A2m
|
UTSW |
6 |
121,622,165 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0049:A2m
|
UTSW |
6 |
121,615,267 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0049:A2m
|
UTSW |
6 |
121,615,267 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0109:A2m
|
UTSW |
6 |
121,636,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0147:A2m
|
UTSW |
6 |
121,639,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0148:A2m
|
UTSW |
6 |
121,639,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0345:A2m
|
UTSW |
6 |
121,615,231 (GRCm39) |
splice site |
probably benign |
|
|
R0445:A2m
|
UTSW |
6 |
121,634,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0766:A2m
|
UTSW |
6 |
121,653,849 (GRCm39) |
splice site |
probably benign |
|
|
R1186:A2m
|
UTSW |
6 |
121,638,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1436:A2m
|
UTSW |
6 |
121,621,172 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1452:A2m
|
UTSW |
6 |
121,655,015 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1636:A2m
|
UTSW |
6 |
121,631,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1637:A2m
|
UTSW |
6 |
121,631,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1638:A2m
|
UTSW |
6 |
121,631,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1698:A2m
|
UTSW |
6 |
121,622,117 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1776:A2m
|
UTSW |
6 |
121,618,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:A2m
|
UTSW |
6 |
121,631,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1918:A2m
|
UTSW |
6 |
121,621,895 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1921:A2m
|
UTSW |
6 |
121,631,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1927:A2m
|
UTSW |
6 |
121,613,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:A2m
|
UTSW |
6 |
121,645,506 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1996:A2m
|
UTSW |
6 |
121,646,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2039:A2m
|
UTSW |
6 |
121,636,908 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2085:A2m
|
UTSW |
6 |
121,653,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2092:A2m
|
UTSW |
6 |
121,651,896 (GRCm39) |
nonsense |
probably null |
|
|
R2105:A2m
|
UTSW |
6 |
121,650,459 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2107:A2m
|
UTSW |
6 |
121,631,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2235:A2m
|
UTSW |
6 |
121,619,023 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2292:A2m
|
UTSW |
6 |
121,650,518 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2350:A2m
|
UTSW |
6 |
121,655,047 (GRCm39) |
splice site |
probably benign |
|
|
R3001:A2m
|
UTSW |
6 |
121,638,406 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3002:A2m
|
UTSW |
6 |
121,638,406 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3023:A2m
|
UTSW |
6 |
121,646,531 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3429:A2m
|
UTSW |
6 |
121,613,249 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3437:A2m
|
UTSW |
6 |
121,616,253 (GRCm39) |
missense |
probably null |
0.03 |
|
R3909:A2m
|
UTSW |
6 |
121,625,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4300:A2m
|
UTSW |
6 |
121,650,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4332:A2m
|
UTSW |
6 |
121,634,406 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4584:A2m
|
UTSW |
6 |
121,634,365 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4697:A2m
|
UTSW |
6 |
121,615,243 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R4710:A2m
|
UTSW |
6 |
121,618,262 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4841:A2m
|
UTSW |
6 |
121,623,803 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5206:A2m
|
UTSW |
6 |
121,651,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:A2m
|
UTSW |
6 |
121,653,909 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5230:A2m
|
UTSW |
6 |
121,651,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:A2m
|
UTSW |
6 |
121,615,375 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5331:A2m
|
UTSW |
6 |
121,615,375 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5377:A2m
|
UTSW |
6 |
121,622,212 (GRCm39) |
missense |
probably benign |
|
|
R5590:A2m
|
UTSW |
6 |
121,653,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5835:A2m
|
UTSW |
6 |
121,616,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:A2m
|
UTSW |
6 |
121,645,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:A2m
|
UTSW |
6 |
121,644,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5949:A2m
|
UTSW |
6 |
121,655,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5994:A2m
|
UTSW |
6 |
121,647,862 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5996:A2m
|
UTSW |
6 |
121,636,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:A2m
|
UTSW |
6 |
121,615,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6035:A2m
|
UTSW |
6 |
121,615,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6090:A2m
|
UTSW |
6 |
121,624,972 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6241:A2m
|
UTSW |
6 |
121,623,788 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6294:A2m
|
UTSW |
6 |
121,631,440 (GRCm39) |
missense |
probably benign |
|
|
R6492:A2m
|
UTSW |
6 |
121,631,464 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6554:A2m
|
UTSW |
6 |
121,618,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:A2m
|
UTSW |
6 |
121,625,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6742:A2m
|
UTSW |
6 |
121,654,995 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6795:A2m
|
UTSW |
6 |
121,625,281 (GRCm39) |
splice site |
probably null |
|
|
R6843:A2m
|
UTSW |
6 |
121,615,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7013:A2m
|
UTSW |
6 |
121,618,345 (GRCm39) |
missense |
probably null |
0.00 |
|
R7137:A2m
|
UTSW |
6 |
121,654,944 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7167:A2m
|
UTSW |
6 |
121,624,930 (GRCm39) |
missense |
probably benign |
|
|
R7294:A2m
|
UTSW |
6 |
121,650,541 (GRCm39) |
nonsense |
probably null |
|
|
R7452:A2m
|
UTSW |
6 |
121,618,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:A2m
|
UTSW |
6 |
121,652,177 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7602:A2m
|
UTSW |
6 |
121,647,895 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7602:A2m
|
UTSW |
6 |
121,618,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:A2m
|
UTSW |
6 |
121,637,063 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7766:A2m
|
UTSW |
6 |
121,615,300 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7921:A2m
|
UTSW |
6 |
121,654,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8007:A2m
|
UTSW |
6 |
121,647,845 (GRCm39) |
intron |
probably benign |
|
|
R8291:A2m
|
UTSW |
6 |
121,655,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:A2m
|
UTSW |
6 |
121,634,369 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8856:A2m
|
UTSW |
6 |
121,618,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9023:A2m
|
UTSW |
6 |
121,636,917 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9154:A2m
|
UTSW |
6 |
121,645,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9156:A2m
|
UTSW |
6 |
121,647,957 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9255:A2m
|
UTSW |
6 |
121,626,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:A2m
|
UTSW |
6 |
121,637,865 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9325:A2m
|
UTSW |
6 |
121,646,578 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9393:A2m
|
UTSW |
6 |
121,616,270 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9563:A2m
|
UTSW |
6 |
121,645,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0057:A2m
|
UTSW |
6 |
121,645,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:A2m
|
UTSW |
6 |
121,653,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:A2m
|
UTSW |
6 |
121,623,835 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACTAACAGCAGCAGTGATTG -3'
(R):5'- GTCATGTGAGTCTGCAGTGAC -3'
Sequencing Primer
(F):5'- CAGTGATTGGCCAGGCTAG -3'
(R):5'- GCAGTGACCTTGCGGAACTTTC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation