Incidental Mutation 'R9563:A2m'
| ID |
721209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A2m
|
| Ensembl Gene |
ENSMUSG00000030111 |
| Gene Name |
alpha-2-macroglobulin |
| Synonyms |
A2mp |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9563 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
121612920-121656197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121645009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 953
(D953E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032203]
|
| AlphaFold |
Q6GQT1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032203
AA Change: D953E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032203
Gene: ENSMUSG00000030111
AA Change: D953E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 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: 127 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
A |
C |
14: 103,287,109 (GRCm39) |
Y80S |
probably damaging |
Het |
| Actr5 |
A |
G |
2: 158,470,135 (GRCm39) |
D255G |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,312,944 (GRCm39) |
V393A |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,473,513 (GRCm39) |
K562R |
possibly damaging |
Het |
| Amz1 |
T |
A |
5: 140,738,133 (GRCm39) |
D464E |
probably damaging |
Het |
| Anapc1 |
G |
A |
2: 128,505,980 (GRCm39) |
Q619* |
probably null |
Het |
| Arfgef3 |
C |
T |
10: 18,522,275 (GRCm39) |
G584R |
probably damaging |
Het |
| Armt1 |
AC |
A |
10: 4,400,848 (GRCm39) |
|
probably null |
Het |
| Atr |
G |
C |
9: 95,802,833 (GRCm39) |
V1832L |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,984,616 (GRCm39) |
D374G |
|
Het |
| Cap1 |
A |
G |
4: 122,758,505 (GRCm39) |
V225A |
probably benign |
Het |
| Cc2d1a |
A |
G |
8: 84,863,758 (GRCm39) |
S562P |
probably benign |
Het |
| Ccdc30 |
T |
C |
4: 119,250,821 (GRCm39) |
N141S |
possibly damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,265,762 (GRCm39) |
V1390A |
possibly damaging |
Het |
| Cdc42ep1 |
A |
T |
15: 78,733,782 (GRCm39) |
H294L |
probably benign |
Het |
| Col6a6 |
C |
A |
9: 105,572,952 (GRCm39) |
G2185C |
probably benign |
Het |
| Col7a1 |
T |
C |
9: 108,791,809 (GRCm39) |
V1232A |
unknown |
Het |
| Copb1 |
A |
G |
7: 113,836,034 (GRCm39) |
I449T |
possibly damaging |
Het |
| Cplane1 |
T |
G |
15: 8,216,563 (GRCm39) |
L594V |
probably benign |
Het |
| Ctdsp2 |
A |
G |
10: 126,832,040 (GRCm39) |
D216G |
probably damaging |
Het |
| Cttnbp2 |
T |
A |
6: 18,367,382 (GRCm39) |
K1645N |
probably benign |
Het |
| Cttnbp2 |
A |
T |
6: 18,427,467 (GRCm39) |
L738* |
probably null |
Het |
| Cul9 |
T |
A |
17: 46,820,897 (GRCm39) |
T1927S |
probably benign |
Het |
| Cyfip2 |
A |
G |
11: 46,151,707 (GRCm39) |
C531R |
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,414,245 (GRCm39) |
I340T |
probably damaging |
Het |
| Daam1 |
A |
G |
12: 71,992,251 (GRCm39) |
E322G |
unknown |
Het |
| Dab2ip |
T |
A |
2: 35,609,915 (GRCm39) |
L710* |
probably null |
Het |
| Degs1l |
G |
T |
1: 180,882,810 (GRCm39) |
V191F |
possibly damaging |
Het |
| Dph1 |
T |
C |
11: 75,076,825 (GRCm39) |
T60A |
possibly damaging |
Het |
| Eme1 |
T |
C |
11: 94,541,339 (GRCm39) |
D161G |
probably benign |
Het |
| Epha3 |
C |
T |
16: 63,366,510 (GRCm39) |
G980D |
possibly damaging |
Het |
| Eri3 |
T |
A |
4: 117,422,013 (GRCm39) |
V136E |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,228,233 (GRCm39) |
I1669N |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,588,071 (GRCm39) |
I568T |
probably damaging |
Het |
| F3 |
T |
A |
3: 121,527,822 (GRCm39) |
L85H |
|
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbxw14 |
T |
C |
9: 109,106,335 (GRCm39) |
Y234C |
probably benign |
Het |
| Fbxw25 |
T |
A |
9: 109,483,676 (GRCm39) |
N179Y |
|
Het |
| Foxr1 |
T |
A |
9: 44,352,199 (GRCm39) |
|
probably benign |
Het |
| Gas8 |
T |
A |
8: 124,263,179 (GRCm39) |
V452E |
possibly damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,649,369 (GRCm39) |
V450A |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,774,824 (GRCm39) |
Y191C |
probably benign |
Het |
| H3c11 |
T |
C |
13: 21,967,221 (GRCm39) |
D107G |
probably damaging |
Het |
| Haus3 |
G |
A |
5: 34,325,300 (GRCm39) |
R120W |
probably benign |
Het |
| Herc1 |
G |
T |
9: 66,294,193 (GRCm39) |
|
probably null |
Het |
| Hyal2 |
T |
C |
9: 107,447,844 (GRCm39) |
W166R |
probably damaging |
Het |
| Inka1 |
T |
A |
9: 107,861,488 (GRCm39) |
Y276F |
probably benign |
Het |
| Itga7 |
C |
T |
10: 128,789,669 (GRCm39) |
A1003V |
probably damaging |
Het |
| Itga8 |
T |
A |
2: 12,165,219 (GRCm39) |
I797F |
possibly damaging |
Het |
| Kank2 |
T |
C |
9: 21,705,852 (GRCm39) |
T389A |
possibly damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,779,737 (GRCm39) |
I203N |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,077,166 (GRCm39) |
L396Q |
probably damaging |
Het |
| Kng1 |
T |
G |
16: 22,879,170 (GRCm39) |
I78S |
probably damaging |
Het |
| Ldlrad4 |
T |
C |
18: 68,387,551 (GRCm39) |
S288P |
probably benign |
Het |
| Lmntd2 |
A |
G |
7: 140,790,701 (GRCm39) |
S516P |
|
Het |
| Lrp1b |
T |
A |
2: 41,185,711 (GRCm39) |
I1449F |
|
Het |
| Lrrk2 |
T |
A |
15: 91,634,043 (GRCm39) |
I1380K |
possibly damaging |
Het |
| Lvrn |
T |
G |
18: 47,017,506 (GRCm39) |
I612S |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,812,408 (GRCm39) |
L940P |
probably benign |
Het |
| Man2a2 |
T |
A |
7: 80,006,101 (GRCm39) |
M996L |
probably benign |
Het |
| Map3k3 |
T |
A |
11: 106,041,860 (GRCm39) |
I413N |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,863,167 (GRCm39) |
V629A |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 24,023,981 (GRCm39) |
E325G |
unknown |
Het |
| Mbnl1 |
A |
G |
3: 60,520,715 (GRCm39) |
N101S |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,703,869 (GRCm39) |
C199S |
probably damaging |
Het |
| Mmab |
T |
C |
5: 114,574,850 (GRCm39) |
E141G |
probably benign |
Het |
| Mtcl2 |
G |
A |
2: 156,902,182 (GRCm39) |
R278C |
probably damaging |
Het |
| Mtus2 |
T |
C |
5: 148,250,217 (GRCm39) |
L1317P |
|
Het |
| Muc6 |
T |
A |
7: 141,217,783 (GRCm39) |
T2297S |
possibly damaging |
Het |
| Myom2 |
A |
T |
8: 15,158,399 (GRCm39) |
K784* |
probably null |
Het |
| Nek1 |
A |
G |
8: 61,577,157 (GRCm39) |
E1118G |
probably benign |
Het |
| Nrtn |
A |
G |
17: 57,058,416 (GRCm39) |
V195A |
probably damaging |
Het |
| Nsd3 |
G |
A |
8: 26,204,230 (GRCm39) |
V420I |
|
Het |
| Or52e4 |
T |
C |
7: 104,706,281 (GRCm39) |
L276P |
possibly damaging |
Het |
| Or52z13 |
A |
T |
7: 103,247,225 (GRCm39) |
Q234L |
probably benign |
Het |
| Or5ac23 |
T |
C |
16: 59,149,765 (GRCm39) |
I36V |
probably benign |
Het |
| Or5b99 |
T |
A |
19: 12,976,983 (GRCm39) |
I211N |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,098 (GRCm39) |
M1V |
probably null |
Het |
| Or6ae1 |
G |
A |
7: 139,742,233 (GRCm39) |
T210I |
probably damaging |
Het |
| Or6c33 |
T |
C |
10: 129,853,287 (GRCm39) |
I19T |
probably benign |
Het |
| Or8b56 |
A |
T |
9: 38,739,014 (GRCm39) |
H3L |
probably benign |
Het |
| Pde10a |
G |
T |
17: 9,020,710 (GRCm39) |
A216S |
unknown |
Het |
| Phldb2 |
T |
C |
16: 45,645,247 (GRCm39) |
T400A |
possibly damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,815,502 (GRCm39) |
T1920S |
|
Het |
| Ptgs2 |
T |
A |
1: 149,981,419 (GRCm39) |
N567K |
probably benign |
Het |
| Pwp1 |
T |
A |
10: 85,712,370 (GRCm39) |
D141E |
probably damaging |
Het |
| Rab3ip |
T |
C |
10: 116,754,668 (GRCm39) |
E296G |
probably null |
Het |
| Rb1cc1 |
A |
G |
1: 6,314,339 (GRCm39) |
K337R |
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,677,477 (GRCm39) |
D475G |
probably damaging |
Het |
| Ric3 |
T |
C |
7: 108,637,997 (GRCm39) |
E253G |
possibly damaging |
Het |
| Rictor |
A |
T |
15: 6,797,562 (GRCm39) |
N306I |
possibly damaging |
Het |
| Rnf214 |
A |
T |
9: 45,811,141 (GRCm39) |
V174E |
possibly damaging |
Het |
| Robo3 |
A |
G |
9: 37,340,900 (GRCm39) |
F124S |
probably damaging |
Het |
| Rrad |
A |
G |
8: 105,355,324 (GRCm39) |
F228S |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,291,595 (GRCm39) |
M1717K |
probably damaging |
Het |
| Scn3b |
A |
G |
9: 40,193,729 (GRCm39) |
D152G |
probably benign |
Het |
| Scn5a |
C |
A |
9: 119,315,803 (GRCm39) |
R1635L |
probably damaging |
Het |
| Sec61b |
A |
G |
4: 47,483,049 (GRCm39) |
Y93C |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,042,235 (GRCm39) |
Y739* |
probably null |
Het |
| Skor2 |
C |
T |
18: 76,946,376 (GRCm39) |
H33Y |
unknown |
Het |
| Slc26a7 |
T |
C |
4: 14,519,496 (GRCm39) |
N508S |
probably benign |
Het |
| Slc7a12 |
A |
G |
3: 14,564,360 (GRCm39) |
I349V |
possibly damaging |
Het |
| Slit1 |
T |
C |
19: 41,596,874 (GRCm39) |
Y1075C |
probably damaging |
Het |
| Sltm |
C |
T |
9: 70,480,841 (GRCm39) |
A231V |
unknown |
Het |
| Smg1 |
A |
G |
7: 117,812,208 (GRCm39) |
S52P |
unknown |
Het |
| Sorl1 |
A |
G |
9: 41,957,893 (GRCm39) |
Y584H |
probably damaging |
Het |
| Spmip2 |
A |
T |
3: 79,356,616 (GRCm39) |
M140L |
probably benign |
Het |
| Ssbp1 |
T |
A |
6: 40,454,968 (GRCm39) |
S142R |
probably benign |
Het |
| Stard3 |
A |
G |
11: 98,270,797 (GRCm39) |
|
probably null |
Het |
| Strn3 |
G |
T |
12: 51,674,300 (GRCm39) |
H531N |
possibly damaging |
Het |
| Stx17 |
A |
G |
4: 48,180,739 (GRCm39) |
T195A |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tmed5 |
A |
C |
5: 108,280,100 (GRCm39) |
|
probably null |
Het |
| Tmem132a |
C |
T |
19: 10,838,960 (GRCm39) |
R494H |
probably benign |
Het |
| Tom1 |
A |
G |
8: 75,787,177 (GRCm39) |
K406E |
probably benign |
Het |
| Trav5d-4 |
A |
T |
14: 53,239,473 (GRCm39) |
N43Y |
probably damaging |
Het |
| Trbv19 |
G |
T |
6: 41,155,945 (GRCm39) |
K105N |
possibly damaging |
Het |
| Trim34a |
C |
T |
7: 103,910,328 (GRCm39) |
Q377* |
probably null |
Het |
| Trp53bp2 |
T |
A |
1: 182,276,378 (GRCm39) |
N786K |
probably benign |
Het |
| Trpc3 |
A |
G |
3: 36,705,683 (GRCm39) |
M504T |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,371,092 (GRCm39) |
M545L |
probably benign |
Het |
| Uggt1 |
A |
C |
1: 36,204,627 (GRCm39) |
V996G |
possibly damaging |
Het |
| Vmn2r65 |
G |
A |
7: 84,589,880 (GRCm39) |
Q679* |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,692,833 (GRCm39) |
I2958V |
|
Het |
| Zbtb37 |
C |
T |
1: 160,847,840 (GRCm39) |
S389N |
possibly damaging |
Het |
| Zfp235 |
T |
C |
7: 23,841,669 (GRCm39) |
V696A |
possibly damaging |
Het |
| Zzef1 |
T |
A |
11: 72,765,732 (GRCm39) |
C1420S |
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 |
|
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 |
|
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'- GCACCCTTACATTCTGGATTCAAG -3'
(R):5'- ACCCGTATTGAGATAGGTAATGGC -3'
Sequencing Primer
(F):5'- TCGCAGAGCAAAACCTTGTCTTG -3'
(R):5'- AATGGCCTTGGTCTTGATCTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation