Incidental Mutation 'R7114:Anks1b'
| ID |
551690 |
| 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 |
045244-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7114 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
89709371-90809162 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 90143560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 523
(R523Q)
|
| 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: R523Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: R523Q
| 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: R489Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138209
Gene: ENSMUSG00000058589
AA Change: R489Q
| 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 |
probably damaging
Transcript: ENSMUST00000183156
AA Change: R523Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: R523Q
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,900,445 (GRCm39) |
A1291T |
probably benign |
Het |
| Arhgap12 |
T |
A |
18: 6,028,056 (GRCm39) |
I690F |
probably damaging |
Het |
| Caln1 |
T |
C |
5: 130,868,124 (GRCm39) |
V220A |
possibly damaging |
Het |
| Cd79b |
T |
A |
11: 106,202,713 (GRCm39) |
T263S |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,379,220 (GRCm39) |
K67N |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
| Col25a1 |
A |
G |
3: 130,389,324 (GRCm39) |
I636V |
probably benign |
Het |
| Col9a3 |
C |
T |
2: 180,245,590 (GRCm39) |
P154S |
unknown |
Het |
| Cyp3a11 |
T |
A |
5: 145,795,593 (GRCm39) |
M453L |
probably benign |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Eno1b |
T |
C |
18: 48,180,560 (GRCm39) |
V246A |
possibly damaging |
Het |
| Eogt |
T |
C |
6: 97,092,965 (GRCm39) |
Y404C |
probably damaging |
Het |
| Ephx3 |
T |
A |
17: 32,404,006 (GRCm39) |
E380V |
possibly damaging |
Het |
| Fancl |
T |
C |
11: 26,357,615 (GRCm39) |
L114P |
probably damaging |
Het |
| Flad1 |
C |
T |
3: 89,314,837 (GRCm39) |
G287S |
probably benign |
Het |
| Gcm1 |
G |
T |
9: 77,967,061 (GRCm39) |
K93N |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,350,578 (GRCm39) |
D704E |
probably benign |
Het |
| Grb14 |
A |
C |
2: 64,747,197 (GRCm39) |
I451S |
probably damaging |
Het |
| Gtf3c3 |
T |
C |
1: 54,462,666 (GRCm39) |
N366D |
probably benign |
Het |
| Hecw1 |
A |
T |
13: 14,486,356 (GRCm39) |
H376Q |
probably benign |
Het |
| Helb |
A |
T |
10: 119,941,161 (GRCm39) |
V509E |
probably benign |
Het |
| Hephl1 |
C |
T |
9: 14,981,111 (GRCm39) |
E774K |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,229,622 (GRCm39) |
E685G |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,894,519 (GRCm39) |
T2016A |
probably benign |
Het |
| Igkv5-43 |
T |
G |
6: 69,800,515 (GRCm39) |
Q57H |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,820,657 (GRCm39) |
V1224E |
probably damaging |
Het |
| Lgals3bp |
C |
T |
11: 118,284,309 (GRCm39) |
W423* |
probably null |
Het |
| Mcm9 |
G |
A |
10: 53,414,669 (GRCm39) |
T137I |
possibly damaging |
Het |
| Mdga1 |
C |
A |
17: 30,061,816 (GRCm39) |
|
probably null |
Het |
| Mocos |
C |
T |
18: 24,799,572 (GRCm39) |
P269S |
probably damaging |
Het |
| Naa40 |
A |
G |
19: 7,207,322 (GRCm39) |
V134A |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,082,571 (GRCm39) |
L5680F |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,492,099 (GRCm39) |
V137A |
probably benign |
Het |
| Nup133 |
T |
C |
8: 124,642,112 (GRCm39) |
I784V |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,915,256 (GRCm39) |
S1147P |
possibly damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,805 (GRCm39) |
M57L |
probably damaging |
Het |
| Or8g28 |
G |
T |
9: 39,169,897 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Plcb4 |
T |
A |
2: 135,824,043 (GRCm39) |
|
probably null |
Het |
| Pomt1 |
C |
T |
2: 32,143,848 (GRCm39) |
T671I |
probably benign |
Het |
| Pomt2 |
G |
T |
12: 87,157,150 (GRCm39) |
P723H |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,394,181 (GRCm39) |
Y1741* |
probably null |
Het |
| Ptprs |
C |
G |
17: 56,758,697 (GRCm39) |
V175L |
probably benign |
Het |
| Slc36a4 |
T |
C |
9: 15,633,250 (GRCm39) |
F95L |
probably benign |
Het |
| Smn1 |
C |
T |
13: 100,267,648 (GRCm39) |
P225S |
probably benign |
Het |
| Snrpa |
A |
T |
7: 26,891,174 (GRCm39) |
I99N |
probably benign |
Het |
| Tgm5 |
G |
T |
2: 120,878,977 (GRCm39) |
Y588* |
probably null |
Het |
| Tmeff2 |
T |
A |
1: 51,224,404 (GRCm39) |
|
probably null |
Het |
| Tmem120b |
T |
C |
5: 123,254,741 (GRCm39) |
F314S |
probably damaging |
Het |
| Trim43b |
C |
T |
9: 88,967,661 (GRCm39) |
R325H |
probably benign |
Het |
| Vmn1r26 |
C |
T |
6: 57,985,755 (GRCm39) |
A145T |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,693,531 (GRCm39) |
|
probably null |
Het |
| Wnt5a |
C |
A |
14: 28,244,713 (GRCm39) |
T320K |
probably damaging |
Het |
| Wrn |
AGCAGGTAATACATACCG |
AG |
8: 33,775,149 (GRCm39) |
|
probably null |
Het |
| Zfp398 |
T |
C |
6: 47,842,910 (GRCm39) |
S321P |
probably benign |
Het |
| Zfp959 |
T |
A |
17: 56,205,501 (GRCm39) |
C513S |
possibly damaging |
Het |
| Zfr2 |
A |
G |
10: 81,080,559 (GRCm39) |
D411G |
probably damaging |
Het |
| Zkscan5 |
T |
A |
5: 145,147,988 (GRCm39) |
|
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 |
|
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'- AGTCTTGAGGGGTAAACTGACTG -3'
(R):5'- TTCCAAGAGCTAATAGAGAGTGCAG -3'
Sequencing Primer
(F):5'- CTGACTGATTAAGTTCATGGCAG -3'
(R):5'- GAGAGTGCAGTGTCTATTATGAAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation