Incidental Mutation 'R7651:Ap2b1'
| ID |
590864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2b1
|
| Ensembl Gene |
ENSMUSG00000035152 |
| Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
| Synonyms |
1300012O03Rik |
| MMRRC Submission |
045728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7651 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83189850-83295861 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 83230256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000018875]
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000065692]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176430]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176523]
[ENSMUST00000176523]
|
| AlphaFold |
Q9DBG3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018875
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
2.6e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
3.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
2.1e-40 |
PFAM |
|
Pfam:HEAT_2
|
124 |
219 |
1.4e-9 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
950 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000018875
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
2.6e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
3.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
2.1e-40 |
PFAM |
|
Pfam:HEAT_2
|
124 |
219 |
1.4e-9 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
950 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000018875
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
2.6e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
3.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
2.1e-40 |
PFAM |
|
Pfam:HEAT_2
|
124 |
219 |
1.4e-9 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
950 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000065692
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4.2e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
707 |
817 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
826 |
936 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000065692
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4.2e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
707 |
817 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
826 |
936 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000065692
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4.2e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
707 |
817 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
826 |
936 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176430
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.8e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
936 |
7.22e-35 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176430
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.8e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
936 |
7.22e-35 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176430
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.8e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
936 |
7.22e-35 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176523
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
95 |
1.1e-26 |
PFAM |
|
Pfam:Cnd1
|
69 |
230 |
1.5e-26 |
PFAM |
|
Pfam:HEAT_2
|
85 |
182 |
5.1e-9 |
PFAM |
|
Pfam:Adaptin_N
|
90 |
496 |
4e-125 |
PFAM |
|
low complexity region
|
587 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
637 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
683 |
793 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
802 |
912 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176523
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
95 |
1.1e-26 |
PFAM |
|
Pfam:Cnd1
|
69 |
230 |
1.5e-26 |
PFAM |
|
Pfam:HEAT_2
|
85 |
182 |
5.1e-9 |
PFAM |
|
Pfam:Adaptin_N
|
90 |
496 |
4e-125 |
PFAM |
|
low complexity region
|
587 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
637 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
683 |
793 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
802 |
912 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176523
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
95 |
1.1e-26 |
PFAM |
|
Pfam:Cnd1
|
69 |
230 |
1.5e-26 |
PFAM |
|
Pfam:HEAT_2
|
85 |
182 |
5.1e-9 |
PFAM |
|
Pfam:Adaptin_N
|
90 |
496 |
4e-125 |
PFAM |
|
low complexity region
|
587 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
637 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
683 |
793 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
802 |
912 |
9.93e-56 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
T |
G |
11: 58,184,188 (GRCm39) |
V302G |
|
Het |
| A230072I06Rik |
T |
C |
8: 12,329,689 (GRCm39) |
I48T |
unknown |
Het |
| Ada |
T |
A |
2: 163,574,275 (GRCm39) |
D127V |
probably damaging |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Ankrd34c |
T |
C |
9: 89,611,463 (GRCm39) |
R293G |
possibly damaging |
Het |
| Arhgef16 |
A |
G |
4: 154,375,524 (GRCm39) |
S157P |
probably damaging |
Het |
| Atp2b1 |
C |
T |
10: 98,852,830 (GRCm39) |
L1036F |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,112,556 (GRCm39) |
I573N |
probably damaging |
Het |
| Cep164 |
T |
C |
9: 45,685,150 (GRCm39) |
E869G |
probably benign |
Het |
| Colq |
A |
T |
14: 31,250,292 (GRCm39) |
V381D |
possibly damaging |
Het |
| Drc1 |
A |
G |
5: 30,516,958 (GRCm39) |
E519G |
probably benign |
Het |
| Drosha |
G |
A |
15: 12,859,522 (GRCm39) |
V577I |
probably benign |
Het |
| Epg5 |
C |
T |
18: 78,024,615 (GRCm39) |
Q1157* |
probably null |
Het |
| Eqtn |
T |
C |
4: 94,811,944 (GRCm39) |
S150G |
possibly damaging |
Het |
| Fam110d |
C |
T |
4: 133,978,959 (GRCm39) |
R173H |
probably damaging |
Het |
| Fam216a |
G |
A |
5: 122,505,445 (GRCm39) |
H172Y |
probably damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,323,714 (GRCm39) |
D87V |
probably damaging |
Het |
| Fgr |
A |
T |
4: 132,722,324 (GRCm39) |
I198F |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,444,049 (GRCm39) |
D621G |
probably benign |
Het |
| Flt3 |
A |
C |
5: 147,291,732 (GRCm39) |
Y573D |
probably damaging |
Het |
| Git2 |
A |
T |
5: 114,871,296 (GRCm39) |
I603N |
probably damaging |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gnb5 |
T |
C |
9: 75,250,853 (GRCm39) |
F326L |
probably damaging |
Het |
| Grm8 |
A |
T |
6: 27,760,257 (GRCm39) |
W358R |
possibly damaging |
Het |
| Hoxa3 |
A |
G |
6: 52,149,253 (GRCm39) |
V126A |
unknown |
Het |
| Hras |
T |
C |
7: 140,772,064 (GRCm39) |
T144A |
possibly damaging |
Het |
| Hyal1 |
G |
A |
9: 107,455,569 (GRCm39) |
R293H |
probably damaging |
Het |
| Ifnlr1 |
A |
G |
4: 135,417,919 (GRCm39) |
S49G |
possibly damaging |
Het |
| Ighv8-11 |
C |
A |
12: 115,531,005 (GRCm39) |
C41F |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,291,617 (GRCm39) |
T689A |
probably damaging |
Het |
| Kcnb1 |
T |
C |
2: 167,030,281 (GRCm39) |
H88R |
probably damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,498,199 (GRCm39) |
M892K |
probably benign |
Het |
| Lrba |
C |
A |
3: 86,648,773 (GRCm39) |
S2507* |
probably null |
Het |
| Mbp |
C |
T |
18: 82,572,499 (GRCm39) |
T65I |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,290,750 (GRCm39) |
Y12F |
|
Het |
| Muc4 |
T |
A |
16: 32,576,949 (GRCm39) |
S80T |
|
Het |
| Muc5ac |
A |
G |
7: 141,349,991 (GRCm39) |
D579G |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,760 (GRCm39) |
T3569A |
possibly damaging |
Het |
| Myb |
C |
T |
10: 21,032,273 (GRCm39) |
R36H |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,171,548 (GRCm39) |
|
probably null |
Het |
| Ogfod1 |
T |
C |
8: 94,763,981 (GRCm39) |
V22A |
probably benign |
Het |
| Orai3 |
A |
G |
7: 127,373,236 (GRCm39) |
I246V |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,891,185 (GRCm39) |
M68V |
probably benign |
Het |
| Pcdh20 |
T |
A |
14: 88,706,589 (GRCm39) |
D237V |
probably damaging |
Het |
| Pcdhb18 |
T |
C |
18: 37,624,046 (GRCm39) |
F459L |
probably benign |
Het |
| Pik3c2g |
C |
T |
6: 139,599,070 (GRCm39) |
T62M |
possibly damaging |
Het |
| Plaa |
T |
C |
4: 94,470,876 (GRCm39) |
Y420C |
probably damaging |
Het |
| Ppp1r9b |
C |
T |
11: 94,892,768 (GRCm39) |
A656V |
probably benign |
Het |
| Pramel39-ps |
T |
C |
5: 94,451,236 (GRCm39) |
T297A |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,330,696 (GRCm39) |
E659V |
unknown |
Het |
| Prlhr |
C |
A |
19: 60,455,583 (GRCm39) |
A328S |
probably benign |
Het |
| Prlr |
A |
T |
15: 10,328,464 (GRCm39) |
D313V |
probably benign |
Het |
| Prune2 |
C |
T |
19: 17,097,772 (GRCm39) |
T1092I |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,787,334 (GRCm39) |
L1043H |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 116,087,084 (GRCm39) |
V521A |
probably benign |
Het |
| Rab44 |
A |
T |
17: 29,367,179 (GRCm39) |
D703V |
unknown |
Het |
| Rpl9-ps1 |
A |
T |
11: 83,535,911 (GRCm39) |
Y179* |
probably null |
Het |
| Scg3 |
T |
A |
9: 75,589,332 (GRCm39) |
N107I |
probably benign |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,430,525 (GRCm39) |
V5A |
possibly damaging |
Het |
| Slc7a12 |
T |
C |
3: 14,546,509 (GRCm39) |
V218A |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,185,322 (GRCm39) |
L918P |
probably damaging |
Het |
| Sox1 |
C |
A |
8: 12,446,686 (GRCm39) |
A109E |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,155,074 (GRCm39) |
M5622L |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,293,416 (GRCm39) |
L1305Q |
probably damaging |
Het |
| Tacc2 |
A |
T |
7: 130,224,884 (GRCm39) |
H523L |
probably benign |
Het |
| Tas1r2 |
A |
T |
4: 139,396,938 (GRCm39) |
D788V |
probably benign |
Het |
| Tcl1b5 |
T |
A |
12: 105,142,694 (GRCm39) |
D7E |
possibly damaging |
Het |
| Tesc |
A |
G |
5: 118,194,666 (GRCm39) |
D159G |
possibly damaging |
Het |
| Tm2d2 |
G |
T |
8: 25,507,316 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf11a |
T |
A |
1: 105,737,171 (GRCm39) |
C93S |
probably damaging |
Het |
| Tnfsf4 |
T |
C |
1: 161,244,593 (GRCm39) |
V94A |
probably benign |
Het |
| Trav13n-3 |
T |
A |
14: 53,574,964 (GRCm39) |
Y69N |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,590,457 (GRCm39) |
D2339G |
probably benign |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,611 (GRCm39) |
I17M |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r114 |
G |
T |
17: 23,509,986 (GRCm39) |
Y831* |
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,146 (GRCm39) |
N91I |
probably damaging |
Het |
| Zfp846 |
T |
C |
9: 20,499,808 (GRCm39) |
S13P |
possibly damaging |
Het |
| Zfp934 |
G |
T |
13: 62,666,327 (GRCm39) |
N116K |
probably benign |
Het |
|
| Other mutations in Ap2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Ap2b1
|
APN |
11 |
83,223,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01583:Ap2b1
|
APN |
11 |
83,215,437 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01753:Ap2b1
|
APN |
11 |
83,212,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01992:Ap2b1
|
APN |
11 |
83,226,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02192:Ap2b1
|
APN |
11 |
83,237,592 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02315:Ap2b1
|
APN |
11 |
83,227,625 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03235:Ap2b1
|
APN |
11 |
83,232,210 (GRCm39) |
missense |
probably benign |
0.41 |
|
P0045:Ap2b1
|
UTSW |
11 |
83,258,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Ap2b1
|
UTSW |
11 |
83,212,793 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0334:Ap2b1
|
UTSW |
11 |
83,258,700 (GRCm39) |
splice site |
probably benign |
|
|
R1222:Ap2b1
|
UTSW |
11 |
83,237,564 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1297:Ap2b1
|
UTSW |
11 |
83,223,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1653:Ap2b1
|
UTSW |
11 |
83,237,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Ap2b1
|
UTSW |
11 |
83,215,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Ap2b1
|
UTSW |
11 |
83,281,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1886:Ap2b1
|
UTSW |
11 |
83,281,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1965:Ap2b1
|
UTSW |
11 |
83,237,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1966:Ap2b1
|
UTSW |
11 |
83,237,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2046:Ap2b1
|
UTSW |
11 |
83,227,212 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2086:Ap2b1
|
UTSW |
11 |
83,241,944 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2132:Ap2b1
|
UTSW |
11 |
83,215,587 (GRCm39) |
splice site |
probably benign |
|
|
R3615:Ap2b1
|
UTSW |
11 |
83,215,391 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3616:Ap2b1
|
UTSW |
11 |
83,215,391 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3983:Ap2b1
|
UTSW |
11 |
83,281,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4124:Ap2b1
|
UTSW |
11 |
83,256,471 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4125:Ap2b1
|
UTSW |
11 |
83,256,471 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4198:Ap2b1
|
UTSW |
11 |
83,233,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4202:Ap2b1
|
UTSW |
11 |
83,226,430 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4543:Ap2b1
|
UTSW |
11 |
83,215,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Ap2b1
|
UTSW |
11 |
83,288,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4589:Ap2b1
|
UTSW |
11 |
83,223,837 (GRCm39) |
nonsense |
probably null |
|
|
R4916:Ap2b1
|
UTSW |
11 |
83,281,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5005:Ap2b1
|
UTSW |
11 |
83,230,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Ap2b1
|
UTSW |
11 |
83,233,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Ap2b1
|
UTSW |
11 |
83,227,563 (GRCm39) |
splice site |
probably null |
|
|
R5738:Ap2b1
|
UTSW |
11 |
83,227,256 (GRCm39) |
splice site |
probably null |
|
|
R6023:Ap2b1
|
UTSW |
11 |
83,226,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6269:Ap2b1
|
UTSW |
11 |
83,237,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Ap2b1
|
UTSW |
11 |
83,237,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Ap2b1
|
UTSW |
11 |
83,199,065 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6502:Ap2b1
|
UTSW |
11 |
83,233,505 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6810:Ap2b1
|
UTSW |
11 |
83,226,317 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6969:Ap2b1
|
UTSW |
11 |
83,280,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7238:Ap2b1
|
UTSW |
11 |
83,223,948 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7241:Ap2b1
|
UTSW |
11 |
83,241,931 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7429:Ap2b1
|
UTSW |
11 |
83,258,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7588:Ap2b1
|
UTSW |
11 |
83,215,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7635:Ap2b1
|
UTSW |
11 |
83,280,554 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7753:Ap2b1
|
UTSW |
11 |
83,258,733 (GRCm39) |
nonsense |
probably null |
|
|
R8468:Ap2b1
|
UTSW |
11 |
83,241,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8943:Ap2b1
|
UTSW |
11 |
83,237,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9093:Ap2b1
|
UTSW |
11 |
83,215,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Ap2b1
|
UTSW |
11 |
83,293,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Ap2b1
|
UTSW |
11 |
83,215,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ap2b1
|
UTSW |
11 |
83,256,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTGACTCAGGCAGTGTAC -3'
(R):5'- GCCAAGTATATACTTAAGCTAAGCCTC -3'
Sequencing Primer
(F):5'- ACTCAGGCAGTGTACTTGTATG -3'
(R):5'- AACAGCTGCTATGGTGGCTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation