Incidental Mutation 'R0049:A2m'
| ID |
40882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A2m
|
| Ensembl Gene |
ENSMUSG00000030111 |
| Gene Name |
alpha-2-macroglobulin |
| Synonyms |
A2mp |
| MMRRC Submission |
038343-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0049 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
121612920-121656197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121615267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 9
(H9L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032203]
[ENSMUST00000204850]
|
| AlphaFold |
Q6GQT1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032203
AA Change: H47L
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: H47L
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204850
AA Change: H9L
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.6175 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (114/115) |
| 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: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,779,083 (GRCm39) |
I739K |
possibly damaging |
Het |
| Abcb1b |
T |
A |
5: 8,875,661 (GRCm39) |
H611Q |
probably damaging |
Het |
| Acod1 |
T |
A |
14: 103,292,643 (GRCm39) |
I389K |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,709,841 (GRCm39) |
L166* |
probably null |
Het |
| Akap1 |
C |
A |
11: 88,730,450 (GRCm39) |
|
probably null |
Het |
| Akna |
T |
A |
4: 63,312,872 (GRCm39) |
Q417L |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,512,678 (GRCm39) |
D285G |
probably damaging |
Het |
| Arhgap1 |
T |
C |
2: 91,500,514 (GRCm39) |
Y308H |
probably damaging |
Het |
| Arhgef10 |
A |
C |
8: 15,004,446 (GRCm39) |
R360S |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,636,500 (GRCm39) |
|
probably null |
Het |
| Arid3a |
A |
G |
10: 79,766,899 (GRCm39) |
T58A |
possibly damaging |
Het |
| Atosb |
A |
T |
4: 43,036,441 (GRCm39) |
S97T |
probably benign |
Het |
| Atp6v0a4 |
G |
A |
6: 38,059,016 (GRCm39) |
R256C |
probably damaging |
Het |
| Camsap3 |
C |
A |
8: 3,648,772 (GRCm39) |
S163R |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,395,663 (GRCm39) |
E518V |
probably damaging |
Het |
| Ccdc180 |
G |
A |
4: 45,930,119 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
T |
C |
15: 98,462,960 (GRCm39) |
M71V |
probably benign |
Het |
| Celsr2 |
T |
A |
3: 108,304,570 (GRCm39) |
Y2263F |
probably benign |
Het |
| Cfap36 |
A |
T |
11: 29,196,514 (GRCm39) |
|
probably null |
Het |
| Cfap69 |
T |
C |
5: 5,663,734 (GRCm39) |
T498A |
probably benign |
Het |
| Chadl |
T |
C |
15: 81,578,213 (GRCm39) |
D6G |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,436,812 (GRCm39) |
I132F |
possibly damaging |
Het |
| Cnot4 |
A |
G |
6: 35,028,212 (GRCm39) |
V468A |
probably benign |
Het |
| Crmp1 |
T |
G |
5: 37,422,617 (GRCm39) |
D141E |
possibly damaging |
Het |
| Crtc1 |
A |
G |
8: 70,844,509 (GRCm39) |
|
probably null |
Het |
| Cryz |
C |
A |
3: 154,317,189 (GRCm39) |
A136D |
probably damaging |
Het |
| Dph6 |
A |
G |
2: 114,353,525 (GRCm39) |
V221A |
probably benign |
Het |
| Dst |
A |
T |
1: 34,314,862 (GRCm39) |
N4267Y |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,127,167 (GRCm39) |
D170V |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,677,922 (GRCm39) |
K403* |
probably null |
Het |
| Eif3d |
T |
C |
15: 77,843,924 (GRCm39) |
N474S |
probably benign |
Het |
| Elf1 |
T |
C |
14: 79,802,965 (GRCm39) |
L106P |
probably damaging |
Het |
| Exoc4 |
G |
C |
6: 33,273,857 (GRCm39) |
|
probably null |
Het |
| F12 |
T |
C |
13: 55,574,130 (GRCm39) |
D34G |
probably benign |
Het |
| Fam228b |
A |
T |
12: 4,798,117 (GRCm39) |
F200Y |
probably damaging |
Het |
| Fgl2 |
T |
A |
5: 21,580,661 (GRCm39) |
D334E |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,924,481 (GRCm39) |
F3641I |
probably benign |
Het |
| Gabrb2 |
T |
G |
11: 42,484,674 (GRCm39) |
Y244D |
probably damaging |
Het |
| Gcc1 |
A |
T |
6: 28,421,268 (GRCm39) |
D16E |
probably benign |
Het |
| Gga3 |
C |
A |
11: 115,477,915 (GRCm39) |
G558* |
probably null |
Het |
| Glt1d1 |
T |
C |
5: 127,740,391 (GRCm39) |
|
probably benign |
Het |
| Gorasp2 |
T |
C |
2: 70,521,067 (GRCm39) |
S346P |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,582 (GRCm39) |
S1048P |
probably damaging |
Het |
| Henmt1 |
T |
A |
3: 108,861,105 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
C |
5: 35,066,006 (GRCm39) |
K3060N |
probably damaging |
Het |
| Ibsp |
C |
T |
5: 104,450,024 (GRCm39) |
L8F |
probably damaging |
Het |
| Kif27 |
A |
T |
13: 58,451,378 (GRCm39) |
D983E |
probably damaging |
Het |
| Kif3a |
T |
A |
11: 53,481,560 (GRCm39) |
|
probably benign |
Het |
| Kif3c |
A |
C |
12: 3,417,090 (GRCm39) |
K370N |
possibly damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,468,256 (GRCm39) |
|
probably benign |
Het |
| Maz |
A |
T |
7: 126,623,758 (GRCm39) |
D74E |
probably damaging |
Het |
| Med21 |
T |
C |
6: 146,551,732 (GRCm39) |
S128P |
probably damaging |
Het |
| Mms19 |
A |
C |
19: 41,943,607 (GRCm39) |
M374R |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,657,571 (GRCm39) |
V801A |
probably damaging |
Het |
| Mrpl3 |
T |
C |
9: 104,932,872 (GRCm39) |
V111A |
probably benign |
Het |
| Mtfr2 |
T |
A |
10: 20,224,158 (GRCm39) |
Y31N |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,990,498 (GRCm39) |
R1677C |
probably damaging |
Het |
| Mynn |
T |
A |
3: 30,661,230 (GRCm39) |
*61K |
probably null |
Het |
| Neb |
A |
C |
2: 52,060,479 (GRCm39) |
M2286R |
possibly damaging |
Het |
| Ngf |
A |
T |
3: 102,427,661 (GRCm39) |
R137* |
probably null |
Het |
| Nr1i3 |
T |
A |
1: 171,041,982 (GRCm39) |
V22E |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,249,566 (GRCm39) |
V452A |
probably damaging |
Het |
| Oas1e |
C |
A |
5: 120,933,395 (GRCm39) |
A57S |
probably benign |
Het |
| Or11g27 |
A |
T |
14: 50,771,151 (GRCm39) |
K94M |
probably damaging |
Het |
| Or14j10 |
T |
A |
17: 37,935,024 (GRCm39) |
R167S |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Pax3 |
A |
G |
1: 78,080,141 (GRCm39) |
L415P |
probably damaging |
Het |
| Pcnt |
G |
T |
10: 76,205,655 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,714,672 (GRCm39) |
D183E |
possibly damaging |
Het |
| Pglyrp1 |
G |
T |
7: 18,623,313 (GRCm39) |
G120V |
probably damaging |
Het |
| Pnp2 |
T |
A |
14: 51,196,990 (GRCm39) |
Y25* |
probably null |
Het |
| Pomt1 |
T |
A |
2: 32,142,023 (GRCm39) |
H584Q |
possibly damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,089,193 (GRCm39) |
N611D |
possibly damaging |
Het |
| Prkcq |
G |
A |
2: 11,288,643 (GRCm39) |
G532E |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,501,980 (GRCm39) |
I116F |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,576,361 (GRCm39) |
T300S |
possibly damaging |
Het |
| Pwp1 |
A |
G |
10: 85,721,480 (GRCm39) |
T361A |
possibly damaging |
Het |
| Rab4a |
A |
T |
8: 124,554,081 (GRCm39) |
H5L |
probably damaging |
Het |
| Raet1e |
C |
A |
10: 22,056,761 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Ramp1 |
T |
C |
1: 91,124,592 (GRCm39) |
I51T |
possibly damaging |
Het |
| Raph1 |
G |
T |
1: 60,565,058 (GRCm39) |
T143K |
probably benign |
Het |
| Rhpn1 |
A |
G |
15: 75,581,088 (GRCm39) |
E110G |
possibly damaging |
Het |
| Rnf168 |
A |
T |
16: 32,117,287 (GRCm39) |
T283S |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 51,977,857 (GRCm39) |
Y1463F |
possibly damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,797,430 (GRCm39) |
Q223R |
probably null |
Het |
| Rtp4 |
G |
T |
16: 23,431,679 (GRCm39) |
M70I |
probably benign |
Het |
| Sag |
C |
A |
1: 87,762,340 (GRCm39) |
T335K |
probably damaging |
Het |
| Satb1 |
T |
A |
17: 52,047,374 (GRCm39) |
Q647L |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,508,847 (GRCm39) |
|
probably benign |
Het |
| Sgo1 |
C |
T |
17: 53,986,691 (GRCm39) |
D167N |
probably damaging |
Het |
| Slco1a8 |
T |
C |
6: 141,936,147 (GRCm39) |
T313A |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,738,231 (GRCm39) |
I545V |
probably benign |
Het |
| St6gal1 |
G |
T |
16: 23,139,891 (GRCm39) |
A21S |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,530,300 (GRCm39) |
L2186I |
probably damaging |
Het |
| Sun2 |
T |
A |
15: 79,611,810 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,565,884 (GRCm39) |
T849M |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,129,473 (GRCm39) |
I79N |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 45,987,582 (GRCm39) |
I72V |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,928,542 (GRCm39) |
V2652E |
possibly damaging |
Het |
| Trim30a |
C |
T |
7: 104,078,559 (GRCm39) |
|
probably null |
Het |
| Tshz3 |
A |
G |
7: 36,469,534 (GRCm39) |
T508A |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,053,908 (GRCm39) |
L757P |
probably damaging |
Het |
| Ubtd2 |
A |
C |
11: 32,449,223 (GRCm39) |
|
probably null |
Het |
| Ubtd2 |
G |
T |
11: 32,449,224 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
C |
T |
13: 23,321,225 (GRCm39) |
Q111* |
probably null |
Het |
| Vmn2r75 |
G |
A |
7: 85,797,309 (GRCm39) |
Q835* |
probably null |
Het |
| Vwa8 |
T |
A |
14: 79,331,179 (GRCm39) |
M1229K |
probably benign |
Het |
| Wdr76 |
C |
T |
2: 121,349,932 (GRCm39) |
R111C |
probably damaging |
Het |
| Xcr1 |
T |
A |
9: 123,684,940 (GRCm39) |
D274V |
possibly damaging |
Het |
| Ypel5 |
C |
T |
17: 73,153,332 (GRCm39) |
T12I |
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 |
|
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 |
|
|
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'- TTAGTCGTCAGCAACCGCAACC -3'
(R):5'- CTTGACTCACGATGAAGGAGGCAC -3'
Sequencing Primer
(F):5'- CTCAACAAAGATGATCACTGGTAG -3'
(R):5'- GCACAGTGGAATAAGTCCTTGTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation