Incidental Mutation 'R7264:Anks1b'
| ID |
564819 |
| 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 |
045354-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
89709371-90809162 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90348732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 800
(M800K)
|
| 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 benign
Transcript: ENSMUST00000099368
AA Change: M800K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: M800K
| 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 benign
Transcript: ENSMUST00000183156
AA Change: M800K
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: M800K
| 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: 99.6%
- 20x: 98.6%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
C |
A |
3: 105,812,141 (GRCm39) |
T9K |
probably benign |
Het |
| Ankib1 |
T |
A |
5: 3,805,739 (GRCm39) |
N176I |
probably damaging |
Het |
| Ankle2 |
G |
A |
5: 110,385,689 (GRCm39) |
G346D |
probably damaging |
Het |
| Arhgef16 |
C |
T |
4: 154,365,387 (GRCm39) |
G576D |
probably damaging |
Het |
| C2cd2 |
C |
A |
16: 97,677,419 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
T |
C |
6: 118,579,156 (GRCm39) |
N1847S |
|
Het |
| Camta1 |
A |
G |
4: 151,537,856 (GRCm39) |
I108T |
probably damaging |
Het |
| Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
| Cep192 |
A |
G |
18: 67,953,426 (GRCm39) |
Y481C |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,821,071 (GRCm39) |
E887G |
probably damaging |
Het |
| Clcn1 |
C |
A |
6: 42,275,772 (GRCm39) |
A298D |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,979,248 (GRCm39) |
N1305S |
unknown |
Het |
| Depdc5 |
T |
C |
5: 33,125,089 (GRCm39) |
V1155A |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,991,851 (GRCm39) |
D3050E |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,557,973 (GRCm39) |
D2147G |
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,386,145 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,252,920 (GRCm39) |
M622V |
probably benign |
Het |
| Gm3402 |
T |
A |
5: 146,451,472 (GRCm39) |
M110K |
probably damaging |
Het |
| Gm8257 |
T |
A |
14: 44,893,817 (GRCm39) |
E82D |
probably damaging |
Het |
| Gne |
T |
A |
4: 44,042,175 (GRCm39) |
I498F |
probably damaging |
Het |
| Grep1 |
A |
G |
17: 23,931,308 (GRCm39) |
S200P |
not run |
Het |
| Gstcd |
C |
T |
3: 132,790,540 (GRCm39) |
V76I |
probably benign |
Het |
| Hgs |
G |
T |
11: 120,365,139 (GRCm39) |
V176L |
probably benign |
Het |
| Hrob |
T |
A |
11: 102,146,422 (GRCm39) |
C233S |
probably benign |
Het |
| Igbp1b |
T |
C |
6: 138,635,108 (GRCm39) |
N112S |
possibly damaging |
Het |
| Itga11 |
A |
T |
9: 62,653,190 (GRCm39) |
T355S |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,050,292 (GRCm39) |
H301L |
|
Het |
| Lhx9 |
T |
C |
1: 138,760,489 (GRCm39) |
D296G |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,427,962 (GRCm39) |
G537D |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,950,844 (GRCm39) |
I581V |
possibly damaging |
Het |
| Mrps36 |
A |
G |
13: 100,875,707 (GRCm39) |
S36P |
probably benign |
Het |
| Or52z13 |
T |
A |
7: 103,246,955 (GRCm39) |
I144N |
probably damaging |
Het |
| Plcb4 |
A |
T |
2: 135,807,000 (GRCm39) |
N547I |
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,083,424 (GRCm39) |
M505L |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,329,818 (GRCm39) |
N154Y |
not run |
Het |
| Rev1 |
A |
T |
1: 38,124,682 (GRCm39) |
V420D |
probably damaging |
Het |
| Rin3 |
A |
G |
12: 102,356,374 (GRCm39) |
I972V |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,993,654 (GRCm39) |
L775P |
not run |
Het |
| Scarf2 |
G |
T |
16: 17,621,154 (GRCm39) |
C274F |
possibly damaging |
Het |
| Serinc2 |
C |
T |
4: 130,152,052 (GRCm39) |
V271I |
probably benign |
Het |
| Slpi |
C |
A |
2: 164,198,322 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
C |
T |
3: 94,173,045 (GRCm39) |
H14Y |
possibly damaging |
Het |
| Stxbp6 |
T |
C |
12: 44,948,782 (GRCm39) |
D109G |
probably damaging |
Het |
| Tmem74 |
G |
A |
15: 43,730,864 (GRCm39) |
L60F |
probably benign |
Het |
| Trhde |
C |
T |
10: 114,636,776 (GRCm39) |
G144S |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,751,333 (GRCm39) |
S1610P |
probably benign |
Het |
| Ttc33 |
C |
T |
15: 5,246,718 (GRCm39) |
Q175* |
probably null |
Het |
| Usp34 |
A |
G |
11: 23,283,566 (GRCm39) |
T106A |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,741,167 (GRCm39) |
D266G |
probably benign |
Het |
| Wdfy3 |
C |
A |
5: 102,003,389 (GRCm39) |
A2905S |
probably benign |
Het |
| Wfs1 |
A |
G |
5: 37,125,190 (GRCm39) |
L567P |
probably damaging |
Het |
| Zfp42 |
T |
C |
8: 43,749,312 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp957 |
A |
G |
14: 79,451,080 (GRCm39) |
F240L |
probably damaging |
Het |
| Zgrf1 |
A |
T |
3: 127,357,218 (GRCm39) |
M815L |
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 |
|
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'- GCTGTGGTAGTAGCACCAAG -3'
(R):5'- CTGACATCATAAAAGAGCAACGTG -3'
Sequencing Primer
(F):5'- TGTGGTAGTAGCACCAAGAATATATG -3'
(R):5'- CAAGACACTCAGTTGACGTTTTAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation