Incidental Mutation 'R8856:A2m'
| ID |
675329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A2m
|
| Ensembl Gene |
ENSMUSG00000030111 |
| Gene Name |
alpha-2-macroglobulin |
| Synonyms |
A2mp |
| MMRRC Submission |
068737-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8856 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
121612920-121656197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121618349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 214
(R214H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032203]
[ENSMUST00000204850]
|
| AlphaFold |
Q6GQT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032203
AA Change: R214H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: R214H
| 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 |
probably benign
Transcript: ENSMUST00000204850
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,906,096 (GRCm39) |
S822G |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,707,621 (GRCm39) |
I1262F |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,632,088 (GRCm39) |
D482G |
probably damaging |
Het |
| Asph |
T |
A |
4: 9,630,947 (GRCm39) |
T134S |
possibly damaging |
Het |
| Cacna1a |
C |
T |
8: 85,286,070 (GRCm39) |
A905V |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,569,530 (GRCm39) |
R798H |
probably benign |
Het |
| Cpne8 |
G |
T |
15: 90,486,044 (GRCm39) |
Q140K |
probably benign |
Het |
| Crocc2 |
A |
T |
1: 93,120,847 (GRCm39) |
N538I |
probably benign |
Het |
| Cyp2j9 |
T |
A |
4: 96,462,184 (GRCm39) |
I366F |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,410,064 (GRCm39) |
D1769E |
probably damaging |
Het |
| Def6 |
A |
T |
17: 28,435,972 (GRCm39) |
I44F |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,462,422 (GRCm39) |
T3723M |
probably damaging |
Het |
| Ecd |
T |
A |
14: 20,387,140 (GRCm39) |
Y198F |
probably damaging |
Het |
| Ecel1 |
A |
C |
1: 87,079,760 (GRCm39) |
M451R |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,831,506 (GRCm39) |
D199G |
probably benign |
Het |
| Efna5 |
A |
T |
17: 62,914,374 (GRCm39) |
I217N |
unknown |
Het |
| F13a1 |
A |
T |
13: 37,100,859 (GRCm39) |
D428E |
probably damaging |
Het |
| Fads1 |
T |
G |
19: 10,170,276 (GRCm39) |
I272S |
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,834,611 (GRCm39) |
A63T |
|
Het |
| Fam83a |
A |
T |
15: 57,872,977 (GRCm39) |
N269Y |
probably damaging |
Het |
| Fasn |
G |
A |
11: 120,708,979 (GRCm39) |
T568I |
possibly damaging |
Het |
| Fbn1 |
A |
G |
2: 125,156,637 (GRCm39) |
S2363P |
probably damaging |
Het |
| Fbxl4 |
T |
A |
4: 22,390,803 (GRCm39) |
W329R |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 28,008,233 (GRCm39) |
V189E |
probably damaging |
Het |
| Frmd4b |
A |
T |
6: 97,269,359 (GRCm39) |
Y984* |
probably null |
Het |
| Galm |
A |
G |
17: 80,490,661 (GRCm39) |
T273A |
possibly damaging |
Het |
| Gm43302 |
A |
G |
5: 105,438,739 (GRCm39) |
S50P |
probably damaging |
Het |
| Gm45861 |
C |
T |
8: 28,010,788 (GRCm39) |
S561L |
unknown |
Het |
| Gnao1 |
A |
G |
8: 94,538,045 (GRCm39) |
I28V |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,385,779 (GRCm39) |
N967S |
probably damaging |
Het |
| Gpr155 |
A |
T |
2: 73,203,993 (GRCm39) |
F274I |
probably benign |
Het |
| Grm1 |
A |
C |
10: 10,595,092 (GRCm39) |
N845K |
probably damaging |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,443,120 (GRCm39) |
|
probably null |
Het |
| Hsf4 |
G |
T |
8: 105,996,628 (GRCm39) |
D18Y |
probably null |
Het |
| Htt |
T |
A |
5: 35,060,675 (GRCm39) |
D2774E |
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,028,621 (GRCm39) |
I679T |
probably benign |
Het |
| Irf4 |
T |
C |
13: 30,945,414 (GRCm39) |
F387L |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,720,962 (GRCm39) |
Y342C |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,282,299 (GRCm39) |
W133R |
possibly damaging |
Het |
| Ldhc |
A |
T |
7: 46,525,999 (GRCm39) |
H271L |
probably benign |
Het |
| Lmtk2 |
C |
A |
5: 144,113,079 (GRCm39) |
D1266E |
probably damaging |
Het |
| Lrrtm1 |
C |
A |
6: 77,221,807 (GRCm39) |
N421K |
possibly damaging |
Het |
| Ly9 |
G |
A |
1: 171,432,587 (GRCm39) |
T142I |
probably benign |
Het |
| Manba |
A |
G |
3: 135,223,764 (GRCm39) |
Y217C |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,845,109 (GRCm39) |
L330P |
probably damaging |
Het |
| Marchf2 |
A |
T |
17: 33,915,165 (GRCm39) |
V143E |
probably benign |
Het |
| Mmel1 |
A |
T |
4: 154,969,478 (GRCm39) |
D191V |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,583 (GRCm39) |
I32N |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,960,510 (GRCm39) |
Q748* |
probably null |
Het |
| Mrpl34 |
T |
G |
8: 71,918,024 (GRCm39) |
W66G |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,931,865 (GRCm39) |
T774A |
unknown |
Het |
| Nde1 |
T |
A |
16: 14,001,446 (GRCm39) |
S165T |
|
Het |
| Nek10 |
T |
G |
14: 14,937,610 (GRCm38) |
I776M |
probably damaging |
Het |
| Nell2 |
A |
G |
15: 95,281,552 (GRCm39) |
S385P |
probably damaging |
Het |
| Nsf |
A |
T |
11: 103,821,568 (GRCm39) |
F29Y |
possibly damaging |
Het |
| Nsmaf |
A |
T |
4: 6,433,320 (GRCm39) |
Y133* |
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,091 (GRCm39) |
S275T |
possibly damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,776 (GRCm39) |
I485V |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,938,033 (GRCm39) |
M1K |
probably null |
Het |
| Pramel24 |
A |
T |
4: 143,453,303 (GRCm39) |
N137I |
probably benign |
Het |
| Prdm5 |
G |
A |
6: 65,860,569 (GRCm39) |
V418I |
possibly damaging |
Het |
| Psmc6 |
T |
A |
14: 45,578,320 (GRCm39) |
C228S |
probably damaging |
Het |
| Ptgfrn |
C |
T |
3: 100,963,927 (GRCm39) |
A562T |
possibly damaging |
Het |
| Ralgapa2 |
G |
T |
2: 146,184,139 (GRCm39) |
Q1576K |
probably benign |
Het |
| Ranbp9 |
C |
T |
13: 43,567,506 (GRCm39) |
G400D |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,423,484 (GRCm39) |
I134F |
probably damaging |
Het |
| Rnf150 |
T |
A |
8: 83,762,715 (GRCm39) |
C317S |
probably damaging |
Het |
| Rrm2b |
G |
A |
15: 37,960,858 (GRCm39) |
|
probably benign |
Het |
| Scai |
T |
C |
2: 38,996,978 (GRCm39) |
Q272R |
probably benign |
Het |
| Sec62 |
C |
T |
3: 30,847,506 (GRCm39) |
R4C |
possibly damaging |
Het |
| Sgo2b |
C |
A |
8: 64,393,091 (GRCm39) |
L115F |
probably null |
Het |
| Slc44a3 |
G |
A |
3: 121,307,456 (GRCm39) |
P177S |
probably damaging |
Het |
| Slc45a4 |
G |
A |
15: 73,457,966 (GRCm39) |
L528F |
probably damaging |
Het |
| Slco1a1 |
G |
T |
6: 141,857,624 (GRCm39) |
A569D |
probably damaging |
Het |
| Stam2 |
G |
T |
2: 52,604,984 (GRCm39) |
Q184K |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,641,166 (GRCm39) |
L79Q |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tecta |
A |
T |
9: 42,284,597 (GRCm39) |
D829E |
probably benign |
Het |
| Tepsin |
A |
G |
11: 119,982,654 (GRCm39) |
V472A |
probably benign |
Het |
| Tnfrsf1a |
G |
A |
6: 125,334,688 (GRCm39) |
M109I |
possibly damaging |
Het |
| Trim42 |
A |
T |
9: 97,245,275 (GRCm39) |
Y508* |
probably null |
Het |
| Trmo |
T |
G |
4: 46,387,625 (GRCm39) |
N65T |
probably benign |
Het |
| Tspear |
G |
T |
10: 77,665,471 (GRCm39) |
E86* |
probably null |
Het |
| Ubr1 |
A |
T |
2: 120,734,523 (GRCm39) |
S1126T |
probably damaging |
Het |
| Usp50 |
C |
A |
2: 126,622,477 (GRCm39) |
D28Y |
probably damaging |
Het |
| Utp6 |
T |
A |
11: 79,842,455 (GRCm39) |
I225F |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,543,351 (GRCm39) |
T1766A |
probably benign |
Het |
| Vcl |
T |
A |
14: 21,045,160 (GRCm39) |
N288K |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,061,663 (GRCm39) |
N104D |
probably benign |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,455,484 (GRCm39) |
S1159R |
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 |
|
|
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 |
|
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'- CTTTATGGGTAACATGGAAGTTTCC -3'
(R):5'- AATCACTCATGCCCCACTGG -3'
Sequencing Primer
(F):5'- TGCACAGTGGCAGAATT -3'
(R):5'- GCCCCACTGGACTTTTATGTAATTAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation