Incidental Mutation 'R1607:Anks1b'
ID |
176564 |
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 |
039644-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1607 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
89709371-90809162 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89878410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 73
(D73V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099368]
[ENSMUST00000182907]
[ENSMUST00000182936]
[ENSMUST00000183156]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099368
AA Change: D73V
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000096968 Gene: ENSMUSG00000058589 AA Change: D73V
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 |
931 |
4.44e-1 |
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 damaging
Transcript: ENSMUST00000182936
AA Change: D73V
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000138209 Gene: ENSMUSG00000058589 AA Change: D73V
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 |
5.03e2 |
SMART |
low complexity region
|
464 |
479 |
N/A |
INTRINSIC |
low complexity region
|
517 |
543 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183012
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183156
AA Change: D73V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138539 Gene: ENSMUSG00000058589 AA Change: D73V
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: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.5%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
C |
T |
7: 119,850,514 (GRCm39) |
P789S |
probably damaging |
Het |
Adam17 |
T |
A |
12: 21,384,139 (GRCm39) |
|
probably null |
Het |
Afdn |
C |
T |
17: 14,030,763 (GRCm39) |
R224W |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,219,306 (GRCm39) |
Y1215H |
probably damaging |
Het |
Bpifb6 |
T |
C |
2: 153,748,781 (GRCm39) |
F259S |
probably damaging |
Het |
Cenpv |
A |
T |
11: 62,416,002 (GRCm39) |
M249K |
probably benign |
Het |
Ces1d |
C |
T |
8: 93,912,746 (GRCm39) |
V231I |
probably benign |
Het |
Clasp1 |
G |
A |
1: 118,432,689 (GRCm39) |
V460I |
probably damaging |
Het |
Cnot10 |
A |
T |
9: 114,458,163 (GRCm39) |
Y114* |
probably null |
Het |
Cpb1 |
G |
T |
3: 20,317,946 (GRCm39) |
R193S |
probably benign |
Het |
Ctc1 |
T |
C |
11: 68,926,976 (GRCm39) |
S1207P |
possibly damaging |
Het |
Cttnbp2 |
T |
A |
6: 18,435,432 (GRCm39) |
K142M |
probably damaging |
Het |
Dhrs7b |
T |
G |
11: 60,742,717 (GRCm39) |
D136E |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,329,806 (GRCm39) |
S3217P |
probably damaging |
Het |
Eif4g3 |
C |
T |
4: 137,853,874 (GRCm39) |
S480L |
probably benign |
Het |
Enah |
A |
T |
1: 181,744,762 (GRCm39) |
|
probably null |
Het |
Epx |
T |
C |
11: 87,759,538 (GRCm39) |
D517G |
probably damaging |
Het |
Gabrg2 |
T |
A |
11: 41,867,490 (GRCm39) |
D43V |
probably damaging |
Het |
Gdf9 |
A |
T |
11: 53,328,338 (GRCm39) |
E431D |
possibly damaging |
Het |
Ghr |
T |
C |
15: 3,350,056 (GRCm39) |
D374G |
probably damaging |
Het |
Gin1 |
A |
T |
1: 97,713,875 (GRCm39) |
I392F |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,529,703 (GRCm39) |
E786G |
possibly damaging |
Het |
Grk4 |
T |
C |
5: 34,888,882 (GRCm39) |
V342A |
probably benign |
Het |
Hhipl2 |
A |
T |
1: 183,204,432 (GRCm39) |
Y135F |
possibly damaging |
Het |
Insig1 |
C |
T |
5: 28,276,706 (GRCm39) |
R91W |
probably damaging |
Het |
Kcnf1 |
C |
G |
12: 17,225,733 (GRCm39) |
D163H |
probably benign |
Het |
Kif11 |
A |
T |
19: 37,375,648 (GRCm39) |
K190* |
probably null |
Het |
Ldb2 |
T |
G |
5: 44,630,814 (GRCm39) |
E309A |
probably damaging |
Het |
Lipo4 |
T |
G |
19: 33,490,073 (GRCm39) |
D143A |
probably damaging |
Het |
Map3k6 |
T |
G |
4: 132,979,784 (GRCm39) |
I1261S |
probably damaging |
Het |
Mtus1 |
C |
T |
8: 41,468,446 (GRCm39) |
V27I |
possibly damaging |
Het |
Ndufaf2 |
C |
T |
13: 108,228,107 (GRCm39) |
V60I |
probably benign |
Het |
Nup133 |
A |
G |
8: 124,675,774 (GRCm39) |
F48L |
probably benign |
Het |
Or1i2 |
G |
T |
10: 78,447,974 (GRCm39) |
T167N |
probably benign |
Het |
Or2w4 |
A |
C |
13: 21,795,934 (GRCm39) |
F68L |
probably benign |
Het |
Or5w11 |
T |
A |
2: 87,459,321 (GRCm39) |
N171K |
probably benign |
Het |
Pcdhb21 |
A |
T |
18: 37,648,532 (GRCm39) |
N554Y |
probably damaging |
Het |
Pcx |
A |
T |
19: 4,653,187 (GRCm39) |
D284V |
possibly damaging |
Het |
Pcyt1a |
T |
C |
16: 32,285,937 (GRCm39) |
S203P |
probably damaging |
Het |
Pdlim3 |
A |
T |
8: 46,349,896 (GRCm39) |
I69F |
probably damaging |
Het |
Pkp4 |
T |
C |
2: 59,152,898 (GRCm39) |
V598A |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,589,304 (GRCm39) |
I509V |
probably benign |
Het |
Polr3b |
C |
A |
10: 84,488,647 (GRCm39) |
T319N |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,293,664 (GRCm39) |
D380G |
probably benign |
Het |
Ralgapa1 |
T |
G |
12: 55,788,321 (GRCm39) |
R587S |
probably damaging |
Het |
Scn5a |
C |
A |
9: 119,315,158 (GRCm39) |
R1850L |
probably damaging |
Het |
Ssc5d |
C |
A |
7: 4,947,042 (GRCm39) |
T1132K |
probably benign |
Het |
Stard7 |
T |
A |
2: 127,137,406 (GRCm39) |
N285K |
possibly damaging |
Het |
Tcp11l2 |
C |
T |
10: 84,449,351 (GRCm39) |
R439W |
probably damaging |
Het |
Tecrl |
T |
C |
5: 83,428,355 (GRCm39) |
|
probably null |
Het |
Tep1 |
A |
T |
14: 51,062,020 (GRCm39) |
L2570Q |
probably null |
Het |
Tex14 |
A |
T |
11: 87,445,754 (GRCm39) |
D191V |
probably damaging |
Het |
Tm7sf2 |
A |
G |
19: 6,113,049 (GRCm39) |
|
probably null |
Het |
Tmem132e |
A |
G |
11: 82,328,196 (GRCm39) |
K408R |
probably benign |
Het |
Tube1 |
A |
G |
10: 39,020,762 (GRCm39) |
D216G |
possibly damaging |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,215,253 (GRCm39) |
H412R |
possibly damaging |
Het |
Wtip |
T |
C |
7: 33,816,020 (GRCm39) |
E352G |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,340,639 (GRCm39) |
L960* |
probably null |
Het |
Zc3h11a |
A |
C |
1: 133,552,425 (GRCm39) |
S561A |
probably benign |
Het |
Zfhx2 |
A |
T |
14: 55,300,442 (GRCm39) |
D2436E |
probably damaging |
Het |
Zfp763 |
T |
C |
17: 33,238,881 (GRCm39) |
H88R |
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 |
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 |
R9469:Anks1b
|
UTSW |
10 |
90,733,205 (GRCm39) |
missense |
possibly damaging |
0.58 |
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'- AACCAGGGAGTTTGCTTATAGCGTC -3'
(R):5'- GTTCATTGACTCGGGAATGGGAAGG -3'
Sequencing Primer
(F):5'- ATAGCGTCAGCTTTTACTTCAGG -3'
(R):5'- AATGGGAAGGTCCGTGATG -3'
|
Posted On |
2014-04-24 |