Incidental Mutation 'R5590:A2m'
| ID |
437432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A2m
|
| Ensembl Gene |
ENSMUSG00000030111 |
| Gene Name |
alpha-2-macroglobulin |
| Synonyms |
A2mp |
| MMRRC Submission |
043143-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5590 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
121612920-121656197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121653891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1408
(T1408M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032203]
|
| AlphaFold |
Q6GQT1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032203
AA Change: T1408M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: T1408M
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (108/108) |
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
T |
G |
4: 124,504,280 (GRCm39) |
M91L |
unknown |
Het |
| Abca16 |
C |
T |
7: 120,143,995 (GRCm39) |
T1671M |
probably damaging |
Het |
| Adamts8 |
A |
T |
9: 30,862,632 (GRCm39) |
N279I |
probably damaging |
Het |
| Adgre1 |
T |
A |
17: 57,752,034 (GRCm39) |
I594N |
probably damaging |
Het |
| Aldh4a1 |
T |
A |
4: 139,369,415 (GRCm39) |
V322E |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,610,837 (GRCm39) |
Y327F |
probably benign |
Het |
| C4b |
T |
C |
17: 34,959,309 (GRCm39) |
T422A |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,664,143 (GRCm39) |
S668T |
probably damaging |
Het |
| Cchcr1 |
A |
T |
17: 35,837,577 (GRCm39) |
E426D |
probably damaging |
Het |
| Ccr3 |
G |
A |
9: 123,828,830 (GRCm39) |
G55D |
probably damaging |
Het |
| Cdipt |
T |
A |
7: 126,578,704 (GRCm39) |
|
probably null |
Het |
| Cep19 |
A |
G |
16: 31,922,716 (GRCm39) |
|
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,349,626 (GRCm39) |
M56L |
probably benign |
Het |
| Cyp3a11 |
C |
A |
5: 145,802,787 (GRCm39) |
M235I |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,363 (GRCm39) |
D87E |
possibly damaging |
Het |
| Ell |
A |
C |
8: 70,992,357 (GRCm39) |
M1L |
possibly damaging |
Het |
| Esyt3 |
T |
C |
9: 99,240,466 (GRCm39) |
|
probably benign |
Het |
| Ets1 |
T |
C |
9: 32,640,094 (GRCm39) |
|
probably benign |
Het |
| Fam222b |
T |
A |
11: 78,045,858 (GRCm39) |
M473K |
probably benign |
Het |
| Fanca |
T |
C |
8: 124,030,702 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
G |
T |
5: 110,529,484 (GRCm39) |
A67D |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,094,380 (GRCm39) |
P622L |
probably damaging |
Het |
| Gal3st2c |
T |
G |
1: 93,936,023 (GRCm39) |
|
probably null |
Het |
| Gins2 |
T |
G |
8: 121,308,486 (GRCm39) |
H166P |
possibly damaging |
Het |
| Gm10118 |
A |
T |
10: 63,762,845 (GRCm39) |
|
probably benign |
Het |
| Gm9979 |
A |
T |
13: 40,859,289 (GRCm39) |
|
noncoding transcript |
Het |
| Hspbap1 |
A |
G |
16: 35,622,033 (GRCm39) |
Y126C |
probably damaging |
Het |
| Hspd1 |
A |
T |
1: 55,123,928 (GRCm39) |
I64N |
probably damaging |
Het |
| Igkv3-4 |
A |
T |
6: 70,649,267 (GRCm39) |
S89C |
probably damaging |
Het |
| Il10ra |
T |
A |
9: 45,176,924 (GRCm39) |
K134* |
probably null |
Het |
| Il12rb1 |
G |
A |
8: 71,266,411 (GRCm39) |
C252Y |
possibly damaging |
Het |
| Il24 |
A |
T |
1: 130,810,253 (GRCm39) |
V201E |
possibly damaging |
Het |
| Inpp1 |
A |
G |
1: 52,833,820 (GRCm39) |
I92T |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,023,463 (GRCm39) |
D535G |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,573,082 (GRCm39) |
I240F |
probably damaging |
Het |
| Kctd17 |
G |
A |
15: 78,321,502 (GRCm39) |
|
probably benign |
Het |
| Leo1 |
T |
A |
9: 75,364,423 (GRCm39) |
I521N |
possibly damaging |
Het |
| Mdga1 |
A |
G |
17: 30,058,841 (GRCm39) |
L722P |
probably damaging |
Het |
| Met |
G |
T |
6: 17,548,781 (GRCm39) |
V942L |
probably benign |
Het |
| Mfn1 |
A |
T |
3: 32,617,996 (GRCm39) |
T110S |
probably benign |
Het |
| Mrps15 |
T |
C |
4: 125,942,488 (GRCm39) |
I79T |
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,360,791 (GRCm39) |
M4497R |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,699,722 (GRCm39) |
S362T |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,955,827 (GRCm39) |
F1209L |
probably benign |
Het |
| Nab2 |
T |
C |
10: 127,500,526 (GRCm39) |
S189G |
probably damaging |
Het |
| Naxe |
A |
C |
3: 87,963,840 (GRCm39) |
|
probably null |
Het |
| Ncf1 |
A |
G |
5: 134,252,355 (GRCm39) |
V232A |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,929,359 (GRCm39) |
Y422C |
probably damaging |
Het |
| Nmnat2 |
G |
T |
1: 152,969,807 (GRCm39) |
G176V |
probably damaging |
Het |
| Npr1 |
A |
G |
3: 90,362,149 (GRCm39) |
S999P |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,211,119 (GRCm39) |
D323G |
probably benign |
Het |
| Or4d10b |
A |
G |
19: 12,036,642 (GRCm39) |
V158A |
probably benign |
Het |
| Or5h23 |
A |
G |
16: 58,906,360 (GRCm39) |
F162S |
probably benign |
Het |
| Or8b3b |
T |
A |
9: 38,584,261 (GRCm39) |
T160S |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,108,029 (GRCm39) |
S342P |
probably damaging |
Het |
| Pag1 |
A |
T |
3: 9,764,482 (GRCm39) |
Y224N |
probably damaging |
Het |
| Pald1 |
T |
A |
10: 61,179,489 (GRCm39) |
H460L |
probably damaging |
Het |
| Per2 |
G |
A |
1: 91,355,578 (GRCm39) |
Q727* |
probably null |
Het |
| Pex19 |
T |
C |
1: 171,960,779 (GRCm39) |
V134A |
probably benign |
Het |
| Phlpp1 |
A |
T |
1: 106,320,657 (GRCm39) |
I1551F |
possibly damaging |
Het |
| Ppef2 |
A |
T |
5: 92,386,998 (GRCm39) |
V313D |
probably damaging |
Het |
| Prorp |
T |
C |
12: 55,351,257 (GRCm39) |
S189P |
possibly damaging |
Het |
| Pzp |
A |
C |
6: 128,500,759 (GRCm39) |
F153C |
probably damaging |
Het |
| Rasl11a |
A |
G |
5: 146,782,052 (GRCm39) |
H9R |
probably benign |
Het |
| Rfx3 |
A |
T |
19: 27,779,780 (GRCm39) |
|
probably null |
Het |
| Rmnd5b |
A |
T |
11: 51,518,789 (GRCm39) |
I68N |
probably damaging |
Het |
| Senp5 |
T |
A |
16: 31,808,331 (GRCm39) |
S281C |
probably damaging |
Het |
| Sh3rf1 |
G |
A |
8: 61,814,766 (GRCm39) |
E442K |
probably benign |
Het |
| Slc12a3 |
G |
A |
8: 95,072,416 (GRCm39) |
V645M |
probably damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,457,337 (GRCm39) |
F193L |
possibly damaging |
Het |
| Slc35f1 |
A |
T |
10: 52,984,274 (GRCm39) |
T345S |
possibly damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,148,874 (GRCm39) |
R704H |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,003,336 (GRCm39) |
Y89F |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,451,425 (GRCm39) |
E2741G |
probably damaging |
Het |
| Strn4 |
G |
A |
7: 16,567,799 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,814,132 (GRCm39) |
T1859A |
probably damaging |
Het |
| Tbc1d14 |
A |
T |
5: 36,682,389 (GRCm39) |
Y3N |
probably damaging |
Het |
| Tdrd9 |
C |
A |
12: 112,018,414 (GRCm39) |
R1278S |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,446,608 (GRCm39) |
A826E |
possibly damaging |
Het |
| Tenm4 |
G |
T |
7: 96,446,607 (GRCm39) |
A826S |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,182,241 (GRCm39) |
|
probably null |
Het |
| Tfec |
A |
G |
6: 16,834,199 (GRCm39) |
L236P |
probably benign |
Het |
| Tjap1 |
A |
G |
17: 46,569,797 (GRCm39) |
S388P |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,208 (GRCm39) |
T554A |
possibly damaging |
Het |
| Tmem17 |
G |
A |
11: 22,467,450 (GRCm39) |
V83I |
probably benign |
Het |
| Tnrc6b |
C |
T |
15: 80,760,703 (GRCm39) |
H137Y |
probably damaging |
Het |
| Tomm5 |
T |
C |
4: 45,106,679 (GRCm39) |
|
probably benign |
Het |
| Top3b |
T |
A |
16: 16,709,441 (GRCm39) |
|
probably benign |
Het |
| Tph1 |
T |
C |
7: 46,303,216 (GRCm39) |
H254R |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,841,468 (GRCm39) |
Y487H |
probably damaging |
Het |
| Trappc13 |
T |
A |
13: 104,284,749 (GRCm39) |
D241V |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,719,075 (GRCm39) |
I193V |
probably benign |
Het |
| Tspear |
A |
T |
10: 77,706,199 (GRCm39) |
H323L |
probably benign |
Het |
| Ttc39a |
A |
T |
4: 109,290,184 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubg1 |
A |
G |
11: 101,014,858 (GRCm39) |
D200G |
probably damaging |
Het |
| Ugdh |
C |
A |
5: 65,580,217 (GRCm39) |
|
probably benign |
Het |
| Uso1 |
A |
G |
5: 92,328,467 (GRCm39) |
N355D |
probably benign |
Het |
| Vamp4 |
T |
C |
1: 162,420,248 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,180,195 (GRCm39) |
T300A |
probably benign |
Het |
| Wt1 |
A |
T |
2: 104,957,629 (GRCm39) |
H163L |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,344,379 (GRCm39) |
S2207P |
probably benign |
Het |
| Xpo6 |
A |
T |
7: 125,706,250 (GRCm39) |
I30N |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,347 (GRCm39) |
I320K |
probably benign |
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 |
|
R1934:A2m
|
UTSW |
6 |
121,626,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
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'- GCCATACTAATAGTATACCAGTCATCC -3'
(R):5'- CACAGGCTCAGGTGATGTATTTCC -3'
Sequencing Primer
(F):5'- ATACCAGTCATCCAAATTACCTTTC -3'
(R):5'- GCTCAGGTGATGTATTTCCAAAGAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation