Incidental Mutation 'R5999:Anks1b'
ID |
480731 |
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 |
044178-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5999 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
89709371-90809162 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90194910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 530
(T530I)
|
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: T530I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096968 Gene: ENSMUSG00000058589 AA Change: T530I
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: T496I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138209 Gene: ENSMUSG00000058589 AA Change: T496I
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: T530I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138539 Gene: ENSMUSG00000058589 AA Change: T530I
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 |
|
Meta Mutation Damage Score |
0.1503 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
Validation Efficiency |
98% (55/56) |
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 |
Acot5 |
A |
G |
12: 84,122,328 (GRCm39) |
D304G |
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,093,925 (GRCm39) |
N2149S |
probably damaging |
Het |
Akp3 |
T |
A |
1: 87,055,263 (GRCm39) |
Y437N |
probably damaging |
Het |
Bltp2 |
T |
C |
11: 78,176,294 (GRCm39) |
F1799L |
probably damaging |
Het |
Bnc2 |
C |
T |
4: 84,474,137 (GRCm39) |
R3H |
probably benign |
Het |
Cald1 |
A |
T |
6: 34,723,273 (GRCm39) |
|
probably benign |
Het |
Capn9 |
A |
G |
8: 125,315,817 (GRCm39) |
T87A |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,934,613 (GRCm39) |
L175P |
probably damaging |
Het |
Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
Cd44 |
A |
T |
2: 102,675,742 (GRCm39) |
N310K |
probably benign |
Het |
Cenpc1 |
T |
A |
5: 86,160,122 (GRCm39) |
K905N |
probably damaging |
Het |
Cept1 |
A |
T |
3: 106,440,759 (GRCm39) |
D133E |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,594,955 (GRCm39) |
H1381R |
possibly damaging |
Het |
Col4a4 |
T |
A |
1: 82,470,340 (GRCm39) |
T730S |
unknown |
Het |
Col6a4 |
A |
T |
9: 105,945,120 (GRCm39) |
M998K |
probably benign |
Het |
Cpne6 |
T |
C |
14: 55,750,516 (GRCm39) |
V119A |
probably benign |
Het |
Ddx54 |
G |
T |
5: 120,761,645 (GRCm39) |
A474S |
probably benign |
Het |
Dmbx1 |
G |
T |
4: 115,775,373 (GRCm39) |
N302K |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,882,279 (GRCm39) |
E617G |
probably benign |
Het |
Ei24 |
A |
G |
9: 36,704,603 (GRCm39) |
V10A |
probably benign |
Het |
Elp3 |
A |
G |
14: 65,768,989 (GRCm39) |
V543A |
probably benign |
Het |
Frmd3 |
T |
C |
4: 74,088,928 (GRCm39) |
I375T |
possibly damaging |
Het |
Gm6408 |
A |
G |
5: 146,421,067 (GRCm39) |
D232G |
possibly damaging |
Het |
Inmt |
A |
T |
6: 55,151,933 (GRCm39) |
Y12* |
probably null |
Het |
Inpp5k |
G |
T |
11: 75,523,926 (GRCm39) |
A44S |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,177,713 (GRCm39) |
T169S |
probably damaging |
Het |
Kif28 |
A |
T |
1: 179,523,355 (GRCm39) |
F992I |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,489,203 (GRCm39) |
Y1199N |
probably damaging |
Het |
Large2 |
C |
T |
2: 92,196,403 (GRCm39) |
E475K |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,942,366 (GRCm39) |
|
probably null |
Het |
Mrpl42 |
T |
C |
10: 95,336,341 (GRCm39) |
|
probably benign |
Het |
Muc5b |
A |
T |
7: 141,411,116 (GRCm39) |
H1354L |
unknown |
Het |
Myof |
C |
A |
19: 37,928,304 (GRCm39) |
E1095* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,110,505 (GRCm39) |
V1385A |
probably damaging |
Het |
Nr5a2 |
T |
C |
1: 136,773,280 (GRCm39) |
Y474C |
probably damaging |
Het |
Or1j10 |
A |
G |
2: 36,267,322 (GRCm39) |
D178G |
probably damaging |
Het |
Or5a21 |
C |
T |
19: 12,311,008 (GRCm39) |
D71N |
probably damaging |
Het |
Or5l13 |
A |
T |
2: 87,780,145 (GRCm39) |
|
probably null |
Het |
Pogz |
A |
G |
3: 94,763,428 (GRCm39) |
T67A |
possibly damaging |
Het |
Prep |
T |
A |
10: 44,948,225 (GRCm39) |
|
probably null |
Het |
Prf1 |
A |
G |
10: 61,138,807 (GRCm39) |
D255G |
probably damaging |
Het |
Psme2 |
A |
G |
14: 55,827,539 (GRCm39) |
L24P |
probably damaging |
Het |
Scmh1 |
T |
A |
4: 120,362,712 (GRCm39) |
|
probably null |
Het |
Scpep1 |
A |
G |
11: 88,820,139 (GRCm39) |
V383A |
possibly damaging |
Het |
Slc4a10 |
A |
T |
2: 62,073,775 (GRCm39) |
N279I |
probably benign |
Het |
Sphkap |
T |
C |
1: 83,245,126 (GRCm39) |
S1498G |
probably benign |
Het |
Spinkl |
C |
A |
18: 44,301,206 (GRCm39) |
S44I |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
Tle5 |
T |
C |
10: 81,397,098 (GRCm39) |
S25P |
probably damaging |
Het |
Tmem213 |
A |
G |
6: 38,086,386 (GRCm39) |
Q14R |
probably benign |
Het |
Tns1 |
A |
T |
1: 73,967,256 (GRCm39) |
Y1172* |
probably null |
Het |
Ugt2b37 |
A |
C |
5: 87,402,036 (GRCm39) |
I198M |
probably benign |
Het |
Usp17lb |
A |
C |
7: 104,489,552 (GRCm39) |
I457M |
probably damaging |
Het |
Usp6nl |
G |
T |
2: 6,446,150 (GRCm39) |
R709L |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,995,009 (GRCm39) |
L462P |
probably damaging |
Het |
Zfhx2 |
A |
G |
14: 55,311,462 (GRCm39) |
S411P |
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 |
|
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'- TCATCAACTGATTGGTTAGTGTCTC -3'
(R):5'- GTTTTACCTGCGTGTTCAGC -3'
Sequencing Primer
(F):5'- AATCACGCCCATTGTAGGTG -3'
(R):5'- GCGTGTTCAGCTCCCTCG -3'
|
Posted On |
2017-06-26 |