Incidental Mutation 'R7384:Atp7b'
| ID |
572946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp7b
|
| Ensembl Gene |
ENSMUSG00000006567 |
| Gene Name |
ATPase, Cu++ transporting, beta polypeptide |
| Synonyms |
Atp7a, WND, Wilson protein |
| MMRRC Submission |
045466-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.602)
|
| Stock # |
R7384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
22482801-22550321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22512331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 511
(S511G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006742]
[ENSMUST00000110738]
|
| AlphaFold |
Q64446 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006742
AA Change: S511G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
AA Change: S511G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMA
|
71 |
132 |
8.8e-14 |
PFAM |
|
Pfam:HMA
|
156 |
217 |
6.6e-13 |
PFAM |
|
Pfam:HMA
|
271 |
329 |
7.4e-13 |
PFAM |
|
Pfam:HMA
|
364 |
425 |
1.1e-10 |
PFAM |
|
Pfam:HMA
|
493 |
554 |
2.3e-14 |
PFAM |
|
Pfam:HMA
|
569 |
630 |
3.1e-15 |
PFAM |
|
transmembrane domain
|
656 |
675 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
770 |
1018 |
3.3e-60 |
PFAM |
|
Pfam:Hydrolase
|
1023 |
1276 |
1.3e-67 |
PFAM |
|
Pfam:HAD
|
1026 |
1273 |
4.6e-10 |
PFAM |
|
Pfam:Hydrolase_3
|
1243 |
1308 |
5.1e-7 |
PFAM |
|
transmembrane domain
|
1322 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1353 |
1370 |
N/A |
INTRINSIC |
|
low complexity region
|
1418 |
1437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110738
AA Change: S396G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
AA Change: S396G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMA
|
59 |
120 |
1.2e-13 |
PFAM |
|
Pfam:HMA
|
144 |
205 |
9.7e-12 |
PFAM |
|
PDB:2AW0|A
|
259 |
314 |
6e-6 |
PDB |
|
Pfam:HMA
|
378 |
439 |
1.6e-13 |
PFAM |
|
Pfam:HMA
|
454 |
515 |
1.5e-15 |
PFAM |
|
transmembrane domain
|
541 |
560 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
656 |
904 |
4.6e-50 |
PFAM |
|
Pfam:Hydrolase
|
908 |
1161 |
6.6e-76 |
PFAM |
|
Pfam:HAD
|
911 |
1158 |
1.5e-15 |
PFAM |
|
Pfam:Hydrolase_3
|
1128 |
1193 |
8.5e-7 |
PFAM |
|
transmembrane domain
|
1207 |
1229 |
N/A |
INTRINSIC |
|
low complexity region
|
1238 |
1255 |
N/A |
INTRINSIC |
|
low complexity region
|
1303 |
1322 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,507,191 (GRCm39) |
I65F |
possibly damaging |
Het |
| Abca13 |
C |
A |
11: 9,283,257 (GRCm39) |
S3226R |
probably damaging |
Het |
| Abhd14b |
A |
G |
9: 106,327,340 (GRCm39) |
I41V |
probably benign |
Het |
| Acot2 |
T |
C |
12: 84,039,441 (GRCm39) |
S317P |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,314,513 (GRCm39) |
E284G |
possibly damaging |
Het |
| Adamts5 |
A |
G |
16: 85,696,714 (GRCm39) |
F148L |
probably benign |
Het |
| Adcy10 |
C |
T |
1: 165,404,177 (GRCm39) |
P1611S |
unknown |
Het |
| Agr2 |
A |
G |
12: 36,045,923 (GRCm39) |
T57A |
probably damaging |
Het |
| Ankar |
T |
G |
1: 72,697,624 (GRCm39) |
I1060L |
probably benign |
Het |
| Ano10 |
T |
A |
9: 122,005,409 (GRCm39) |
D77V |
unknown |
Het |
| Anxa2r1 |
T |
A |
13: 120,496,797 (GRCm39) |
Q24L |
possibly damaging |
Het |
| Apc2 |
G |
A |
10: 80,148,458 (GRCm39) |
V1171I |
probably damaging |
Het |
| Apoa4 |
G |
A |
9: 46,152,772 (GRCm39) |
R19Q |
not run |
Het |
| Arhgap33 |
A |
G |
7: 30,226,696 (GRCm39) |
S504P |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,311,707 (GRCm39) |
V1862A |
probably damaging |
Het |
| Bcl10 |
A |
G |
3: 145,638,795 (GRCm39) |
K146E |
possibly damaging |
Het |
| Bsg |
A |
T |
10: 79,545,631 (GRCm39) |
D181V |
probably damaging |
Het |
| Btg4 |
T |
C |
9: 51,030,413 (GRCm39) |
V171A |
probably benign |
Het |
| Cdh8 |
A |
C |
8: 99,957,138 (GRCm39) |
N188K |
probably benign |
Het |
| Cflar |
C |
A |
1: 58,791,735 (GRCm39) |
T346K |
|
Het |
| Chrna5 |
T |
C |
9: 54,912,117 (GRCm39) |
S306P |
probably damaging |
Het |
| Cldn20 |
G |
A |
17: 3,582,886 (GRCm39) |
G20R |
probably damaging |
Het |
| Clns1a |
G |
A |
7: 97,345,988 (GRCm39) |
A18T |
probably benign |
Het |
| D130043K22Rik |
A |
G |
13: 25,066,588 (GRCm39) |
Y795C |
probably damaging |
Het |
| Dync1li2 |
A |
C |
8: 105,169,175 (GRCm39) |
S38A |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,091,087 (GRCm39) |
E1043G |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,370,784 (GRCm39) |
|
probably null |
Het |
| Eral1 |
A |
G |
11: 77,964,927 (GRCm39) |
I422T |
possibly damaging |
Het |
| Exoc3 |
G |
A |
13: 74,320,275 (GRCm39) |
P729S |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,299,736 (GRCm39) |
Y339F |
probably damaging |
Het |
| Faah |
G |
T |
4: 115,862,364 (GRCm39) |
N206K |
probably damaging |
Het |
| Fem1a |
A |
G |
17: 56,564,537 (GRCm39) |
E210G |
probably benign |
Het |
| Gcc2 |
T |
A |
10: 58,105,786 (GRCm39) |
S341T |
probably damaging |
Het |
| Gfpt2 |
A |
T |
11: 49,701,817 (GRCm39) |
I123F |
possibly damaging |
Het |
| Gm3047 |
T |
A |
14: 4,558,271 (GRCm38) |
N164K |
probably damaging |
Het |
| Gm3327 |
A |
G |
14: 44,362,334 (GRCm39) |
K78E |
|
Het |
| Herpud1 |
A |
G |
8: 95,116,005 (GRCm39) |
I57V |
probably damaging |
Het |
| Homer1 |
A |
T |
13: 93,529,547 (GRCm39) |
R285S |
possibly damaging |
Het |
| Hps6 |
T |
A |
19: 45,992,456 (GRCm39) |
V131E |
possibly damaging |
Het |
| Il1r1 |
T |
A |
1: 40,321,421 (GRCm39) |
I11N |
possibly damaging |
Het |
| Jakmip1 |
T |
A |
5: 37,330,551 (GRCm39) |
D410E |
possibly damaging |
Het |
| Kif3a |
T |
A |
11: 53,469,681 (GRCm39) |
F97L |
probably damaging |
Het |
| Klf11 |
C |
T |
12: 24,703,742 (GRCm39) |
T76I |
probably damaging |
Het |
| Ldlr |
A |
C |
9: 21,651,090 (GRCm39) |
T503P |
probably benign |
Het |
| Mapk3 |
G |
C |
7: 126,363,463 (GRCm39) |
R279P |
|
Het |
| Mb21d2 |
A |
T |
16: 28,647,664 (GRCm39) |
D103E |
probably benign |
Het |
| Msh4 |
T |
A |
3: 153,594,385 (GRCm39) |
M333L |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,513,829 (GRCm39) |
I836T |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,115,201 (GRCm39) |
E1912V |
possibly damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,150,364 (GRCm39) |
V887A |
probably benign |
Het |
| Nlrp4a |
G |
A |
7: 26,148,963 (GRCm39) |
R190Q |
not run |
Het |
| Nop53 |
T |
C |
7: 15,673,420 (GRCm39) |
T344A |
probably damaging |
Het |
| Or2r3 |
A |
T |
6: 42,448,257 (GRCm39) |
L285Q |
possibly damaging |
Het |
| Or5an11 |
T |
C |
19: 12,246,440 (GRCm39) |
V282A |
possibly damaging |
Het |
| Or7h8 |
A |
G |
9: 20,124,041 (GRCm39) |
Y132C |
probably damaging |
Het |
| Pcyox1l |
A |
C |
18: 61,831,461 (GRCm39) |
V266G |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,618,649 (GRCm39) |
Y654C |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,849,780 (GRCm39) |
S345P |
probably damaging |
Het |
| Polr1f |
G |
T |
12: 33,483,631 (GRCm39) |
G128W |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,334,503 (GRCm39) |
C8S |
probably benign |
Het |
| Psg17 |
T |
A |
7: 18,552,585 (GRCm39) |
Q230L |
possibly damaging |
Het |
| Rab11fip5 |
A |
T |
6: 85,325,312 (GRCm39) |
S332T |
possibly damaging |
Het |
| Rac2 |
T |
A |
15: 78,446,131 (GRCm39) |
K186* |
probably null |
Het |
| S100pbp |
T |
C |
4: 129,075,702 (GRCm39) |
N208D |
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,318,268 (GRCm39) |
V432D |
possibly damaging |
Het |
| Skic3 |
A |
C |
13: 76,298,854 (GRCm39) |
S1187R |
possibly damaging |
Het |
| Slc34a1 |
G |
T |
13: 55,550,747 (GRCm39) |
C225F |
probably benign |
Het |
| Slc35e2 |
A |
T |
4: 155,695,089 (GRCm39) |
M152L |
probably benign |
Het |
| Slc49a3 |
A |
T |
5: 108,593,926 (GRCm39) |
I61K |
probably damaging |
Het |
| Slc9a4 |
T |
A |
1: 40,651,411 (GRCm39) |
I563K |
probably benign |
Het |
| Sppl3 |
T |
G |
5: 115,199,700 (GRCm39) |
|
probably null |
Het |
| Stam |
T |
C |
2: 14,139,241 (GRCm39) |
F301L |
probably benign |
Het |
| Supt16 |
G |
A |
14: 52,418,619 (GRCm39) |
R213W |
probably damaging |
Het |
| Tbc1d8 |
A |
T |
1: 39,433,179 (GRCm39) |
D334E |
probably benign |
Het |
| Tmem87a |
C |
T |
2: 120,202,004 (GRCm39) |
|
probably null |
Het |
| Tnk1 |
T |
C |
11: 69,742,447 (GRCm39) |
Y661C |
probably damaging |
Het |
| Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,937,492 (GRCm39) |
D2947G |
probably damaging |
Het |
| Traf4 |
A |
G |
11: 78,051,617 (GRCm39) |
|
probably null |
Het |
| Trappc10 |
A |
T |
10: 78,045,218 (GRCm39) |
M490K |
possibly damaging |
Het |
| Trav12-1 |
A |
G |
14: 53,775,993 (GRCm39) |
T49A |
probably benign |
Het |
| Ubap1l |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
9: 65,279,032 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
G |
T |
12: 103,137,837 (GRCm39) |
V2485L |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,132,360 (GRCm39) |
S861P |
probably damaging |
Het |
| Vcam1 |
A |
G |
3: 115,910,877 (GRCm39) |
V507A |
possibly damaging |
Het |
| Vmn1r218 |
A |
G |
13: 23,320,895 (GRCm39) |
M81V |
probably benign |
Het |
| Zfp652 |
G |
T |
11: 95,643,830 (GRCm39) |
V343L |
probably damaging |
Het |
|
| Other mutations in Atp7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00932:Atp7b
|
APN |
8 |
22,501,114 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL00981:Atp7b
|
APN |
8 |
22,517,543 (GRCm39) |
splice site |
probably null |
|
|
IGL01600:Atp7b
|
APN |
8 |
22,517,541 (GRCm39) |
splice site |
probably null |
|
|
IGL01713:Atp7b
|
APN |
8 |
22,518,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01778:Atp7b
|
APN |
8 |
22,484,844 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL01926:Atp7b
|
APN |
8 |
22,501,797 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02312:Atp7b
|
APN |
8 |
22,484,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02562:Atp7b
|
APN |
8 |
22,518,101 (GRCm39) |
missense |
probably benign |
|
|
IGL02573:Atp7b
|
APN |
8 |
22,512,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02603:Atp7b
|
APN |
8 |
22,484,792 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02622:Atp7b
|
APN |
8 |
22,518,454 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02721:Atp7b
|
APN |
8 |
22,512,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03145:Atp7b
|
APN |
8 |
22,508,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
daffodil
|
UTSW |
8 |
22,488,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
menace
|
UTSW |
8 |
22,512,381 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4131001:Atp7b
|
UTSW |
8 |
22,484,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Atp7b
|
UTSW |
8 |
22,501,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Atp7b
|
UTSW |
8 |
22,550,011 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0128:Atp7b
|
UTSW |
8 |
22,518,188 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0130:Atp7b
|
UTSW |
8 |
22,518,188 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0325:Atp7b
|
UTSW |
8 |
22,518,467 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0412:Atp7b
|
UTSW |
8 |
22,485,675 (GRCm39) |
splice site |
probably null |
|
|
R0856:Atp7b
|
UTSW |
8 |
22,487,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0906:Atp7b
|
UTSW |
8 |
22,517,842 (GRCm39) |
missense |
probably benign |
|
|
R0989:Atp7b
|
UTSW |
8 |
22,518,710 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1377:Atp7b
|
UTSW |
8 |
22,501,801 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1517:Atp7b
|
UTSW |
8 |
22,487,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Atp7b
|
UTSW |
8 |
22,517,689 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1529:Atp7b
|
UTSW |
8 |
22,518,740 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1691:Atp7b
|
UTSW |
8 |
22,501,039 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1743:Atp7b
|
UTSW |
8 |
22,496,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1815:Atp7b
|
UTSW |
8 |
22,501,667 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2008:Atp7b
|
UTSW |
8 |
22,517,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Atp7b
|
UTSW |
8 |
22,501,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Atp7b
|
UTSW |
8 |
22,503,600 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2182:Atp7b
|
UTSW |
8 |
22,504,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2256:Atp7b
|
UTSW |
8 |
22,488,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2257:Atp7b
|
UTSW |
8 |
22,488,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2274:Atp7b
|
UTSW |
8 |
22,510,848 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2475:Atp7b
|
UTSW |
8 |
22,484,792 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2906:Atp7b
|
UTSW |
8 |
22,501,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2907:Atp7b
|
UTSW |
8 |
22,501,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3421:Atp7b
|
UTSW |
8 |
22,518,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3422:Atp7b
|
UTSW |
8 |
22,518,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3688:Atp7b
|
UTSW |
8 |
22,494,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Atp7b
|
UTSW |
8 |
22,510,880 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4235:Atp7b
|
UTSW |
8 |
22,501,039 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4700:Atp7b
|
UTSW |
8 |
22,490,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4701:Atp7b
|
UTSW |
8 |
22,490,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4877:Atp7b
|
UTSW |
8 |
22,518,617 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4962:Atp7b
|
UTSW |
8 |
22,510,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5009:Atp7b
|
UTSW |
8 |
22,517,714 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5016:Atp7b
|
UTSW |
8 |
22,505,885 (GRCm39) |
splice site |
probably null |
|
|
R5038:Atp7b
|
UTSW |
8 |
22,518,472 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5438:Atp7b
|
UTSW |
8 |
22,504,570 (GRCm39) |
missense |
probably benign |
|
|
R5467:Atp7b
|
UTSW |
8 |
22,501,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Atp7b
|
UTSW |
8 |
22,549,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5512:Atp7b
|
UTSW |
8 |
22,502,755 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5563:Atp7b
|
UTSW |
8 |
22,518,730 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5751:Atp7b
|
UTSW |
8 |
22,508,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5773:Atp7b
|
UTSW |
8 |
22,517,879 (GRCm39) |
missense |
probably benign |
|
|
R5941:Atp7b
|
UTSW |
8 |
22,487,512 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6227:Atp7b
|
UTSW |
8 |
22,510,841 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6265:Atp7b
|
UTSW |
8 |
22,505,943 (GRCm39) |
nonsense |
probably null |
|
|
R6290:Atp7b
|
UTSW |
8 |
22,510,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Atp7b
|
UTSW |
8 |
22,510,771 (GRCm39) |
splice site |
probably null |
|
|
R6647:Atp7b
|
UTSW |
8 |
22,518,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Atp7b
|
UTSW |
8 |
22,494,391 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6830:Atp7b
|
UTSW |
8 |
22,512,381 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6886:Atp7b
|
UTSW |
8 |
22,518,706 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6928:Atp7b
|
UTSW |
8 |
22,484,828 (GRCm39) |
missense |
probably benign |
|
|
R6965:Atp7b
|
UTSW |
8 |
22,518,101 (GRCm39) |
missense |
probably benign |
|
|
R7203:Atp7b
|
UTSW |
8 |
22,487,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7222:Atp7b
|
UTSW |
8 |
22,512,394 (GRCm39) |
nonsense |
probably null |
|
|
R7344:Atp7b
|
UTSW |
8 |
22,487,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Atp7b
|
UTSW |
8 |
22,501,865 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7451:Atp7b
|
UTSW |
8 |
22,504,700 (GRCm39) |
nonsense |
probably null |
|
|
R7607:Atp7b
|
UTSW |
8 |
22,501,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Atp7b
|
UTSW |
8 |
22,518,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8160:Atp7b
|
UTSW |
8 |
22,487,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8349:Atp7b
|
UTSW |
8 |
22,503,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8421:Atp7b
|
UTSW |
8 |
22,518,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8449:Atp7b
|
UTSW |
8 |
22,503,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8749:Atp7b
|
UTSW |
8 |
22,518,334 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8989:Atp7b
|
UTSW |
8 |
22,510,911 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9210:Atp7b
|
UTSW |
8 |
22,487,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Atp7b
|
UTSW |
8 |
22,517,890 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9462:Atp7b
|
UTSW |
8 |
22,490,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9485:Atp7b
|
UTSW |
8 |
22,502,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Atp7b
|
UTSW |
8 |
22,518,730 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Atp7b
|
UTSW |
8 |
22,484,893 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGTGTGCATGGCTAATG -3'
(R):5'- TTCTGTGCCACAAACCATGG -3'
Sequencing Primer
(F):5'- TGCATGGCTAATGTGCTCAGAAAG -3'
(R):5'- TGCCACAAACCATGGGTGATATAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation