Incidental Mutation 'R9469:Anks1b'
ID |
715367 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Anks1b
|
Ensembl Gene |
ENSMUSG00000058589 |
Gene Name |
ankyrin repeat and sterile alpha motif domain containing 1B |
Synonyms |
C030032C09Rik, Gm10937, AIDA-1b, LOC380650, E530015N03Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9469 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
89709371-90809162 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90733205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 994
(M994L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099364]
[ENSMUST00000099366]
[ENSMUST00000179337]
[ENSMUST00000179694]
[ENSMUST00000182053]
[ENSMUST00000182113]
[ENSMUST00000182192]
[ENSMUST00000182202]
[ENSMUST00000182284]
[ENSMUST00000182356]
[ENSMUST00000182427]
[ENSMUST00000182430]
[ENSMUST00000182550]
[ENSMUST00000182595]
[ENSMUST00000182600]
[ENSMUST00000182786]
[ENSMUST00000182907]
[ENSMUST00000182960]
[ENSMUST00000182966]
[ENSMUST00000183136]
[ENSMUST00000183156]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099364
AA Change: M221L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000096965 Gene: ENSMUSG00000058589 AA Change: M221L
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
PTB
|
131 |
269 |
1.5e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099366
AA Change: M1L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000096967 Gene: ENSMUSG00000058589 AA Change: M1L
Domain | Start | End | E-Value | Type |
PTB
|
63 |
201 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179337
AA Change: M1L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000136410 Gene: ENSMUSG00000058589 AA Change: M1L
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
PTB
|
156 |
294 |
1.6e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179694
AA Change: M1L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000136146 Gene: ENSMUSG00000058589 AA Change: M1L
Domain | Start | End | E-Value | Type |
PTB
|
96 |
234 |
1.5e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182053
|
SMART Domains |
Protein: ENSMUSP00000138644 Gene: ENSMUSG00000058589
Domain | Start | End | E-Value | Type |
SAM
|
2 |
71 |
1.19e-19 |
SMART |
SAM
|
76 |
144 |
5.66e-17 |
SMART |
PTB
|
192 |
330 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182113
AA Change: M221L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000138655 Gene: ENSMUSG00000058589 AA Change: M221L
Domain | Start | End | E-Value | Type |
SAM
|
33 |
102 |
1.19e-19 |
SMART |
SAM
|
107 |
175 |
5.66e-17 |
SMART |
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
PTB
|
307 |
445 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182192
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182202
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182284
|
SMART Domains |
Protein: ENSMUSP00000138794 Gene: ENSMUSG00000058589
Domain | Start | End | E-Value | Type |
SAM
|
33 |
102 |
1.19e-19 |
SMART |
SAM
|
107 |
175 |
5.66e-17 |
SMART |
PTB
|
248 |
386 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182356
AA Change: M164L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000138234 Gene: ENSMUSG00000058589 AA Change: M164L
Domain | Start | End | E-Value | Type |
SAM
|
1 |
45 |
4.05e1 |
SMART |
SAM
|
50 |
118 |
5.66e-17 |
SMART |
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
PTB
|
226 |
364 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182427
AA Change: M190L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000138480 Gene: ENSMUSG00000058589 AA Change: M190L
Domain | Start | End | E-Value | Type |
SAM
|
2 |
71 |
1.19e-19 |
SMART |
SAM
|
76 |
144 |
5.66e-17 |
SMART |
low complexity region
|
164 |
179 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182430
|
SMART Domains |
Protein: ENSMUSP00000138660 Gene: ENSMUSG00000058589
Domain | Start | End | E-Value | Type |
SAM
|
33 |
102 |
1.19e-19 |
SMART |
SAM
|
107 |
175 |
5.66e-17 |
SMART |
PTB
|
223 |
361 |
2.94e-38 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000138643 Gene: ENSMUSG00000058589 AA Change: M221L
Domain | Start | End | E-Value | Type |
SAM
|
33 |
102 |
1.19e-19 |
SMART |
SAM
|
107 |
175 |
5.66e-17 |
SMART |
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
PTB
|
308 |
446 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182595
AA Change: M221L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138314 Gene: ENSMUSG00000058589 AA Change: M221L
Domain | Start | End | E-Value | Type |
SAM
|
33 |
102 |
1.19e-19 |
SMART |
SAM
|
107 |
175 |
5.66e-17 |
SMART |
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
PTB
|
283 |
421 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182600
|
SMART Domains |
Protein: ENSMUSP00000138650 Gene: ENSMUSG00000058589
Domain | Start | End | E-Value | Type |
SAM
|
1 |
45 |
4.05e1 |
SMART |
SAM
|
50 |
118 |
5.66e-17 |
SMART |
PTB
|
216 |
354 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182786
|
SMART Domains |
Protein: ENSMUSP00000138720 Gene: ENSMUSG00000058589
Domain | Start | End | E-Value | Type |
Pfam:SAM_2
|
1 |
42 |
8.4e-8 |
PFAM |
Pfam:SAM_1
|
2 |
43 |
5.4e-7 |
PFAM |
Pfam:SAM_1
|
51 |
97 |
4.4e-10 |
PFAM |
Pfam:SAM_2
|
52 |
95 |
6.1e-7 |
PFAM |
PTB
|
155 |
293 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182907
|
SMART Domains |
Protein: ENSMUSP00000138614 Gene: ENSMUSG00000058589
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182960
|
SMART Domains |
Protein: ENSMUSP00000138222 Gene: ENSMUSG00000058589
Domain | Start | End | E-Value | Type |
SAM
|
33 |
102 |
1.19e-19 |
SMART |
SAM
|
107 |
175 |
5.66e-17 |
SMART |
PTB
|
247 |
385 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182966
AA Change: M1L
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000138610 Gene: ENSMUSG00000058589 AA Change: M1L
Domain | Start | End | E-Value | Type |
PTB
|
88 |
226 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183024
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183136
AA Change: M221L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000138738 Gene: ENSMUSG00000058589 AA Change: M221L
Domain | Start | End | E-Value | Type |
SAM
|
33 |
102 |
1.19e-19 |
SMART |
SAM
|
107 |
175 |
5.66e-17 |
SMART |
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
PTB
|
307 |
445 |
2.94e-38 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183156
AA Change: M994L
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000138539 Gene: ENSMUSG00000058589 AA Change: M994L
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
46 |
N/A |
INTRINSIC |
ANK
|
58 |
87 |
1.88e-5 |
SMART |
ANK
|
91 |
123 |
3.13e-2 |
SMART |
ANK
|
127 |
156 |
6.92e-4 |
SMART |
ANK
|
160 |
189 |
3.08e-1 |
SMART |
ANK
|
193 |
222 |
1.43e-5 |
SMART |
ANK
|
225 |
254 |
4.75e-2 |
SMART |
low complexity region
|
498 |
513 |
N/A |
INTRINSIC |
low complexity region
|
551 |
577 |
N/A |
INTRINSIC |
low complexity region
|
659 |
670 |
N/A |
INTRINSIC |
SAM
|
806 |
875 |
2.06e-19 |
SMART |
SAM
|
880 |
948 |
5.66e-17 |
SMART |
low complexity region
|
968 |
983 |
N/A |
INTRINSIC |
PTB
|
1056 |
1194 |
2.94e-38 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011] PHENOTYPE: Mice homozygous for a conditional allele activated in neurons alters hippocampal synaptic transmission. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
T |
17: 57,183,283 (GRCm39) |
D8V |
probably benign |
Het |
Ada |
T |
A |
2: 163,574,192 (GRCm39) |
M155L |
probably benign |
Het |
Adam23 |
A |
G |
1: 63,584,671 (GRCm39) |
I360V |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,988,225 (GRCm39) |
G3170R |
probably damaging |
Het |
Alb |
G |
A |
5: 90,610,659 (GRCm39) |
D80N |
probably benign |
Het |
Amph |
G |
T |
13: 19,270,769 (GRCm39) |
G126V |
probably damaging |
Het |
Atp8a2 |
A |
G |
14: 60,028,668 (GRCm39) |
L933P |
probably benign |
Het |
Bcas1 |
T |
C |
2: 170,191,292 (GRCm39) |
D546G |
possibly damaging |
Het |
Bmpr2 |
A |
C |
1: 59,881,928 (GRCm39) |
M186L |
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,507,938 (GRCm39) |
I711V |
probably damaging |
Het |
Cobll1 |
G |
A |
2: 64,966,774 (GRCm39) |
T128I |
probably damaging |
Het |
Cog4 |
T |
C |
8: 111,608,804 (GRCm39) |
W165R |
unknown |
Het |
Cyp2j5 |
G |
A |
4: 96,517,731 (GRCm39) |
R494* |
probably null |
Het |
Dnah2 |
G |
A |
11: 69,321,896 (GRCm39) |
A3808V |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,421,146 (GRCm39) |
T3828S |
probably benign |
Het |
Dsg1c |
T |
C |
18: 20,400,947 (GRCm39) |
I150T |
probably damaging |
Het |
Ehd2 |
A |
T |
7: 15,684,332 (GRCm39) |
I489N |
probably damaging |
Het |
Fam24a |
C |
A |
7: 130,938,392 (GRCm39) |
T94K |
probably damaging |
Het |
Gata2 |
A |
G |
6: 88,182,301 (GRCm39) |
E423G |
possibly damaging |
Het |
Gm8947 |
A |
G |
1: 151,069,063 (GRCm39) |
I299V |
unknown |
Het |
Gpr161 |
A |
G |
1: 165,133,896 (GRCm39) |
I53V |
possibly damaging |
Het |
Guca2b |
G |
A |
4: 119,515,817 (GRCm39) |
Q15* |
probably null |
Het |
Hus1 |
A |
G |
11: 8,948,744 (GRCm39) |
V219A |
probably benign |
Het |
Il5 |
T |
C |
11: 53,614,824 (GRCm39) |
W129R |
probably damaging |
Het |
Ipmk |
A |
G |
10: 71,201,843 (GRCm39) |
Y77C |
probably damaging |
Het |
Kcnip3 |
A |
G |
2: 127,307,322 (GRCm39) |
L136P |
probably benign |
Het |
Klhl2 |
G |
A |
8: 65,196,069 (GRCm39) |
A558V |
probably benign |
Het |
Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
Lig3 |
G |
A |
11: 82,686,199 (GRCm39) |
C613Y |
probably benign |
Het |
Lrriq1 |
A |
G |
10: 103,050,761 (GRCm39) |
S664P |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,335,369 (GRCm39) |
Y276C |
probably damaging |
Het |
Mlph |
A |
G |
1: 90,856,068 (GRCm39) |
E119G |
probably damaging |
Het |
Mrpl39 |
T |
G |
16: 84,517,170 (GRCm39) |
R316S |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,994,247 (GRCm39) |
D902G |
probably benign |
Het |
Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
Myom1 |
G |
T |
17: 71,368,122 (GRCm39) |
A482S |
possibly damaging |
Het |
Nol4 |
A |
G |
18: 23,085,318 (GRCm39) |
V32A |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,804,030 (GRCm39) |
Y555H |
probably damaging |
Het |
Or12d12 |
T |
C |
17: 37,610,956 (GRCm39) |
D119G |
probably damaging |
Het |
Or4d10c |
G |
A |
19: 12,065,434 (GRCm39) |
H241Y |
probably benign |
Het |
Or52l1 |
A |
T |
7: 104,829,967 (GRCm39) |
H199Q |
probably damaging |
Het |
Or8k27 |
C |
A |
2: 86,275,787 (GRCm39) |
D180Y |
probably damaging |
Het |
Papss1 |
A |
G |
3: 131,288,959 (GRCm39) |
K175E |
possibly damaging |
Het |
Pdcd5 |
T |
C |
7: 35,343,827 (GRCm39) |
M39V |
probably benign |
Het |
Plcl2 |
G |
A |
17: 50,913,953 (GRCm39) |
D321N |
probably benign |
Het |
Plxna4 |
G |
A |
6: 32,494,526 (GRCm39) |
P30L |
probably benign |
Het |
Pou2f1 |
G |
A |
1: 165,740,830 (GRCm39) |
T113I |
probably benign |
Het |
Ptpn2 |
T |
A |
18: 67,808,907 (GRCm39) |
H303L |
probably benign |
Het |
R3hdm1 |
T |
A |
1: 128,106,921 (GRCm39) |
|
probably null |
Het |
Rdx |
T |
C |
9: 51,977,069 (GRCm39) |
V106A |
probably damaging |
Het |
Ripk2 |
T |
C |
4: 16,138,181 (GRCm39) |
D249G |
possibly damaging |
Het |
Rnf169 |
A |
T |
7: 99,575,567 (GRCm39) |
S343T |
possibly damaging |
Het |
Rnf40 |
T |
A |
7: 127,195,769 (GRCm39) |
L671Q |
probably damaging |
Het |
Scube3 |
C |
A |
17: 28,386,138 (GRCm39) |
S793* |
probably null |
Het |
Sipa1l3 |
A |
T |
7: 29,028,481 (GRCm39) |
M1633K |
possibly damaging |
Het |
Slc16a14 |
A |
T |
1: 84,900,612 (GRCm39) |
N124K |
probably benign |
Het |
Smarcd2 |
G |
A |
11: 106,163,332 (GRCm39) |
A68V |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,739,774 (GRCm39) |
E3391G |
possibly damaging |
Het |
Spata32 |
T |
C |
11: 103,099,741 (GRCm39) |
M255V |
possibly damaging |
Het |
Sstr5 |
T |
A |
17: 25,710,941 (GRCm39) |
Q96L |
probably damaging |
Het |
Tcaf3 |
A |
G |
6: 42,573,828 (GRCm39) |
I128T |
probably benign |
Het |
Tfdp1 |
C |
T |
8: 13,422,965 (GRCm39) |
T290M |
probably benign |
Het |
Ticrr |
C |
T |
7: 79,344,511 (GRCm39) |
H1459Y |
probably benign |
Het |
Tmed4 |
T |
A |
11: 6,223,763 (GRCm39) |
Q171L |
probably benign |
Het |
Tmem40 |
G |
A |
6: 115,719,321 (GRCm39) |
S48F |
possibly damaging |
Het |
Tnfaip1 |
A |
G |
11: 78,419,075 (GRCm39) |
|
probably null |
Het |
Top1mt |
A |
G |
15: 75,539,742 (GRCm39) |
Y290H |
probably damaging |
Het |
Topaz1 |
A |
T |
9: 122,577,585 (GRCm39) |
D165V |
probably damaging |
Het |
Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
Ubac1 |
G |
A |
2: 25,897,763 (GRCm39) |
R286C |
probably damaging |
Het |
Ube2u |
A |
G |
4: 100,406,958 (GRCm39) |
E273G |
possibly damaging |
Het |
Vmn1r213 |
G |
A |
13: 23,196,101 (GRCm39) |
S228N |
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,487,118 (GRCm39) |
V515E |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,780,691 (GRCm39) |
L4011P |
|
Het |
Ythdc2 |
T |
C |
18: 45,019,383 (GRCm39) |
F1384S |
probably damaging |
Het |
Zfp423 |
T |
A |
8: 88,509,519 (GRCm39) |
Y275F |
probably damaging |
Het |
Zfp493 |
A |
G |
13: 67,934,325 (GRCm39) |
K93E |
probably benign |
Het |
Zfp980 |
G |
T |
4: 145,427,687 (GRCm39) |
G139W |
probably benign |
Het |
|
Other mutations in Anks1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01669:Anks1b
|
APN |
10 |
90,733,100 (GRCm39) |
splice site |
probably benign |
|
IGL01890:Anks1b
|
APN |
10 |
90,480,389 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01966:Anks1b
|
APN |
10 |
90,730,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02176:Anks1b
|
APN |
10 |
89,878,530 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02205:Anks1b
|
APN |
10 |
89,906,956 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02465:Anks1b
|
APN |
10 |
89,999,127 (GRCm39) |
nonsense |
probably null |
|
IGL02534:Anks1b
|
APN |
10 |
90,730,979 (GRCm39) |
missense |
probably benign |
0.45 |
IGL02554:Anks1b
|
APN |
10 |
90,757,240 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02820:Anks1b
|
APN |
10 |
89,912,921 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03164:Anks1b
|
APN |
10 |
89,878,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Anks1b
|
UTSW |
10 |
89,909,924 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0096:Anks1b
|
UTSW |
10 |
89,909,924 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0482:Anks1b
|
UTSW |
10 |
90,195,057 (GRCm39) |
missense |
probably benign |
0.00 |
R0542:Anks1b
|
UTSW |
10 |
89,909,829 (GRCm39) |
splice site |
probably benign |
|
R0848:Anks1b
|
UTSW |
10 |
89,906,987 (GRCm39) |
missense |
probably damaging |
0.99 |
R1056:Anks1b
|
UTSW |
10 |
90,757,291 (GRCm39) |
splice site |
probably null |
|
R1398:Anks1b
|
UTSW |
10 |
89,885,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R1446:Anks1b
|
UTSW |
10 |
90,346,935 (GRCm39) |
missense |
probably benign |
0.00 |
R1548:Anks1b
|
UTSW |
10 |
89,885,847 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1551:Anks1b
|
UTSW |
10 |
89,912,843 (GRCm39) |
missense |
probably benign |
0.00 |
R1607:Anks1b
|
UTSW |
10 |
89,878,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R1667:Anks1b
|
UTSW |
10 |
90,347,046 (GRCm39) |
critical splice donor site |
probably null |
|
R1701:Anks1b
|
UTSW |
10 |
89,885,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R1843:Anks1b
|
UTSW |
10 |
90,348,751 (GRCm39) |
critical splice donor site |
probably null |
|
R1899:Anks1b
|
UTSW |
10 |
90,096,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Anks1b
|
UTSW |
10 |
89,885,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R2036:Anks1b
|
UTSW |
10 |
90,805,715 (GRCm39) |
missense |
probably damaging |
0.99 |
R2279:Anks1b
|
UTSW |
10 |
89,885,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R2280:Anks1b
|
UTSW |
10 |
90,802,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R2937:Anks1b
|
UTSW |
10 |
89,912,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R3739:Anks1b
|
UTSW |
10 |
89,869,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R4061:Anks1b
|
UTSW |
10 |
90,143,484 (GRCm39) |
missense |
probably damaging |
0.98 |
R4459:Anks1b
|
UTSW |
10 |
90,346,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R4479:Anks1b
|
UTSW |
10 |
89,885,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Anks1b
|
UTSW |
10 |
90,346,652 (GRCm39) |
missense |
probably benign |
0.01 |
R4511:Anks1b
|
UTSW |
10 |
90,346,652 (GRCm39) |
missense |
probably benign |
0.01 |
R4780:Anks1b
|
UTSW |
10 |
89,709,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R4785:Anks1b
|
UTSW |
10 |
90,750,612 (GRCm39) |
missense |
probably null |
0.88 |
R4790:Anks1b
|
UTSW |
10 |
89,999,137 (GRCm39) |
missense |
probably damaging |
0.99 |
R5012:Anks1b
|
UTSW |
10 |
90,194,999 (GRCm39) |
missense |
probably benign |
0.06 |
R5400:Anks1b
|
UTSW |
10 |
90,348,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R5586:Anks1b
|
UTSW |
10 |
89,912,926 (GRCm39) |
missense |
probably damaging |
0.98 |
R5687:Anks1b
|
UTSW |
10 |
90,750,573 (GRCm39) |
missense |
probably benign |
0.03 |
R5899:Anks1b
|
UTSW |
10 |
90,759,379 (GRCm39) |
splice site |
probably null |
|
R5917:Anks1b
|
UTSW |
10 |
90,412,803 (GRCm39) |
intron |
probably benign |
|
R5999:Anks1b
|
UTSW |
10 |
90,194,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R6080:Anks1b
|
UTSW |
10 |
90,802,211 (GRCm39) |
nonsense |
probably null |
|
R6216:Anks1b
|
UTSW |
10 |
90,096,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R6265:Anks1b
|
UTSW |
10 |
90,777,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R6298:Anks1b
|
UTSW |
10 |
90,516,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R6337:Anks1b
|
UTSW |
10 |
90,757,158 (GRCm39) |
missense |
probably benign |
0.27 |
R6522:Anks1b
|
UTSW |
10 |
90,733,189 (GRCm39) |
intron |
probably benign |
|
R6843:Anks1b
|
UTSW |
10 |
90,784,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R6852:Anks1b
|
UTSW |
10 |
90,096,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R6933:Anks1b
|
UTSW |
10 |
89,905,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R7114:Anks1b
|
UTSW |
10 |
90,143,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R7211:Anks1b
|
UTSW |
10 |
90,346,932 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7241:Anks1b
|
UTSW |
10 |
90,348,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R7264:Anks1b
|
UTSW |
10 |
90,348,732 (GRCm39) |
missense |
probably benign |
0.08 |
R7325:Anks1b
|
UTSW |
10 |
90,777,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R7392:Anks1b
|
UTSW |
10 |
90,516,648 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7578:Anks1b
|
UTSW |
10 |
89,885,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R7604:Anks1b
|
UTSW |
10 |
90,096,708 (GRCm39) |
splice site |
probably null |
|
R7633:Anks1b
|
UTSW |
10 |
90,784,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R7881:Anks1b
|
UTSW |
10 |
90,802,880 (GRCm39) |
missense |
probably benign |
0.07 |
R7910:Anks1b
|
UTSW |
10 |
90,516,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R7941:Anks1b
|
UTSW |
10 |
90,413,017 (GRCm39) |
missense |
probably damaging |
0.98 |
R8045:Anks1b
|
UTSW |
10 |
90,516,722 (GRCm39) |
missense |
probably benign |
|
R8146:Anks1b
|
UTSW |
10 |
90,143,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R8176:Anks1b
|
UTSW |
10 |
89,905,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R8535:Anks1b
|
UTSW |
10 |
90,784,493 (GRCm39) |
missense |
probably benign |
0.00 |
R8681:Anks1b
|
UTSW |
10 |
89,885,868 (GRCm39) |
missense |
probably damaging |
0.99 |
R9300:Anks1b
|
UTSW |
10 |
90,412,966 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9541:Anks1b
|
UTSW |
10 |
90,412,947 (GRCm39) |
missense |
probably benign |
0.02 |
R9550:Anks1b
|
UTSW |
10 |
90,412,360 (GRCm39) |
start codon destroyed |
probably null |
|
R9653:Anks1b
|
UTSW |
10 |
90,346,524 (GRCm39) |
missense |
probably damaging |
1.00 |
RF004:Anks1b
|
UTSW |
10 |
89,869,087 (GRCm39) |
missense |
probably damaging |
1.00 |
RF008:Anks1b
|
UTSW |
10 |
89,869,087 (GRCm39) |
missense |
probably damaging |
1.00 |
RF017:Anks1b
|
UTSW |
10 |
89,869,087 (GRCm39) |
missense |
probably damaging |
1.00 |
RF018:Anks1b
|
UTSW |
10 |
89,869,087 (GRCm39) |
missense |
probably damaging |
1.00 |
RF023:Anks1b
|
UTSW |
10 |
89,869,087 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Anks1b
|
UTSW |
10 |
90,348,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAATCCCAGCAGATGAGTG -3'
(R):5'- TCCATCATGAGCTGCTCTTCAG -3'
Sequencing Primer
(F):5'- ACCCCGTAGCTTGTTGTG -3'
(R):5'- AGCTGCTCTTCAGTATTTGAATGC -3'
|
Posted On |
2022-06-15 |