Incidental Mutation 'R5400:Anks1b'
| ID |
429947 |
| 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 |
042971-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5400 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
89709371-90809162 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90348686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 785
(I785L)
|
| 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: I785L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: I785L
| 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 benign
Transcript: ENSMUST00000182936
|
| SMART Domains |
Protein: ENSMUSP00000138209
Gene: ENSMUSG00000058589
| 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: I785L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: I785L
| 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 |
0.0623 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (64/65) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
T |
C |
2: 93,689,767 (GRCm39) |
D380G |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,699,257 (GRCm39) |
L567P |
possibly damaging |
Het |
| Arpc5l |
G |
A |
2: 38,903,747 (GRCm39) |
G79S |
probably benign |
Het |
| Arvcf |
G |
T |
16: 18,217,820 (GRCm39) |
R440L |
probably benign |
Het |
| Atm |
T |
C |
9: 53,414,318 (GRCm39) |
D924G |
probably damaging |
Het |
| Atp8b1 |
A |
T |
18: 64,679,060 (GRCm39) |
|
probably null |
Het |
| Cd19 |
C |
T |
7: 126,013,624 (GRCm39) |
G55D |
probably benign |
Het |
| Cd34 |
A |
G |
1: 194,621,266 (GRCm39) |
|
probably benign |
Het |
| Cd69 |
T |
A |
6: 129,246,954 (GRCm39) |
M88L |
probably benign |
Het |
| Ces2h |
A |
G |
8: 105,745,057 (GRCm39) |
E397G |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,463,036 (GRCm39) |
F1306L |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,901,514 (GRCm39) |
E1124G |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,164,185 (GRCm39) |
M44K |
probably damaging |
Het |
| Elapor2 |
A |
T |
5: 9,529,247 (GRCm39) |
N1027Y |
probably damaging |
Het |
| En1 |
A |
G |
1: 120,531,324 (GRCm39) |
D188G |
probably damaging |
Het |
| Epha10 |
C |
T |
4: 124,807,914 (GRCm39) |
|
probably benign |
Het |
| Fam120b |
A |
T |
17: 15,623,388 (GRCm39) |
L455F |
possibly damaging |
Het |
| Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
| Incenp |
A |
G |
19: 9,855,039 (GRCm39) |
|
probably null |
Het |
| Kansl3 |
A |
G |
1: 36,397,230 (GRCm39) |
V86A |
possibly damaging |
Het |
| Klhl7 |
C |
G |
5: 24,331,918 (GRCm39) |
F73L |
probably damaging |
Het |
| Med28 |
T |
A |
5: 45,682,541 (GRCm39) |
V69D |
probably damaging |
Het |
| Mknk1 |
C |
A |
4: 115,721,749 (GRCm39) |
L98M |
probably damaging |
Het |
| Mknk1 |
T |
A |
4: 115,721,750 (GRCm39) |
L98Q |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 69,935,724 (GRCm39) |
C97S |
probably damaging |
Het |
| Neto1 |
A |
G |
18: 86,414,033 (GRCm39) |
H9R |
possibly damaging |
Het |
| Omd |
A |
T |
13: 49,745,703 (GRCm39) |
E371V |
probably benign |
Het |
| Or1n2 |
A |
T |
2: 36,797,833 (GRCm39) |
I292F |
probably damaging |
Het |
| Or2w3b |
T |
C |
11: 58,623,146 (GRCm39) |
T282A |
possibly damaging |
Het |
| Or4c123 |
T |
C |
2: 89,127,257 (GRCm39) |
D119G |
probably damaging |
Het |
| Or51e2 |
G |
A |
7: 102,391,637 (GRCm39) |
T191I |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 108,919,497 (GRCm39) |
Y733* |
probably null |
Het |
| Pcdh12 |
A |
T |
18: 38,401,951 (GRCm39) |
S91R |
probably damaging |
Het |
| Pxk |
C |
A |
14: 8,136,911 (GRCm38) |
P144Q |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,620,219 (GRCm39) |
S198P |
probably damaging |
Het |
| Recql |
T |
G |
6: 142,308,073 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,184,712 (GRCm39) |
D1601G |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,438,100 (GRCm39) |
D1922G |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,598,974 (GRCm39) |
R1185S |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,082,432 (GRCm39) |
S399P |
possibly damaging |
Het |
| Slc13a4 |
A |
T |
6: 35,278,777 (GRCm39) |
C37* |
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc9a9 |
T |
A |
9: 94,594,954 (GRCm39) |
F155I |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,614,367 (GRCm39) |
K1193M |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,288,585 (GRCm39) |
T80A |
probably benign |
Het |
| Tmc1 |
A |
G |
19: 20,781,966 (GRCm39) |
I584T |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,654,494 (GRCm39) |
F324L |
probably benign |
Het |
| Usp19 |
T |
C |
9: 108,377,392 (GRCm39) |
V1236A |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,635 (GRCm39) |
N301S |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,784,945 (GRCm39) |
V476I |
probably benign |
Het |
| Zbed6 |
G |
A |
1: 133,585,879 (GRCm39) |
T486I |
probably damaging |
Het |
| Zbtb25 |
C |
A |
12: 76,396,476 (GRCm39) |
E249* |
probably null |
Het |
| Zfp54 |
C |
A |
17: 21,653,962 (GRCm39) |
T152K |
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 |
|
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'- ACCTTGACACTGAACCTGTCC -3'
(R):5'- GAAGGAAATCATTTGCAGCTACTC -3'
Sequencing Primer
(F):5'- CCTAAGTTAATGGGTCACATATGC -3'
(R):5'- TGCAGCTACTCATTATAAAATAGGAC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation