Incidental Mutation 'R0946:Apbb1'
ID |
82103 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Apbb1
|
Ensembl Gene |
ENSMUSG00000037032 |
Gene Name |
amyloid beta precursor protein binding family B member 1 |
Synonyms |
Fe65, Rir |
MMRRC Submission |
039085-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0946 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
105207690-105230860 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105223062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 183
(L183Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081165]
[ENSMUST00000186868]
[ENSMUST00000187051]
[ENSMUST00000187683]
[ENSMUST00000187721]
[ENSMUST00000188001]
[ENSMUST00000188440]
[ENSMUST00000191601]
[ENSMUST00000189378]
[ENSMUST00000191011]
[ENSMUST00000210079]
[ENSMUST00000189265]
[ENSMUST00000190369]
[ENSMUST00000189072]
[ENSMUST00000188726]
|
AlphaFold |
Q9QXJ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081165
AA Change: L183Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000079932 Gene: ENSMUSG00000037032 AA Change: L183Q
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
184 |
N/A |
INTRINSIC |
WW
|
254 |
285 |
6.23e-5 |
SMART |
low complexity region
|
287 |
299 |
N/A |
INTRINSIC |
PTB
|
365 |
512 |
4.16e-38 |
SMART |
PTB
|
538 |
667 |
1.76e-36 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186868
|
SMART Domains |
Protein: ENSMUSP00000140052 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
Pfam:WW
|
1 |
24 |
1.1e-5 |
PFAM |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187051
|
SMART Domains |
Protein: ENSMUSP00000139755 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
Pfam:WW
|
1 |
24 |
1.4e-5 |
PFAM |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
SCOP:d1shca_
|
74 |
120 |
9e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187683
|
SMART Domains |
Protein: ENSMUSP00000139426 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
Pfam:WW
|
1 |
24 |
2.1e-5 |
PFAM |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
Pfam:PID
|
111 |
158 |
5.9e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187721
|
SMART Domains |
Protein: ENSMUSP00000140192 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
WW
|
54 |
85 |
3.7e-7 |
SMART |
low complexity region
|
87 |
99 |
N/A |
INTRINSIC |
Pfam:PID
|
170 |
242 |
1.5e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188001
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188440
|
SMART Domains |
Protein: ENSMUSP00000140715 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
Pfam:WW
|
1 |
24 |
3.4e-5 |
PFAM |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
PTB
|
106 |
223 |
1.4e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191601
AA Change: L183Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140116 Gene: ENSMUSG00000037032 AA Change: L183Q
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
184 |
N/A |
INTRINSIC |
WW
|
254 |
285 |
3.7e-7 |
SMART |
low complexity region
|
287 |
299 |
N/A |
INTRINSIC |
PTB
|
365 |
512 |
1.8e-40 |
SMART |
PTB
|
538 |
667 |
9.5e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189378
AA Change: L183Q
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000140979 Gene: ENSMUSG00000037032 AA Change: L183Q
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
184 |
N/A |
INTRINSIC |
WW
|
254 |
285 |
6.23e-5 |
SMART |
low complexity region
|
287 |
299 |
N/A |
INTRINSIC |
PTB
|
365 |
510 |
6.86e-39 |
SMART |
PTB
|
536 |
665 |
1.76e-36 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191011
AA Change: L183Q
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000140973 Gene: ENSMUSG00000037032 AA Change: L183Q
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
184 |
N/A |
INTRINSIC |
WW
|
254 |
285 |
6.23e-5 |
SMART |
low complexity region
|
287 |
299 |
N/A |
INTRINSIC |
PTB
|
365 |
510 |
6.86e-39 |
SMART |
PTB
|
536 |
665 |
1.76e-36 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210079
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189265
|
SMART Domains |
Protein: ENSMUSP00000140137 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
Pfam:PID
|
1 |
34 |
2.3e-6 |
PFAM |
PTB
|
63 |
192 |
9.5e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190369
|
SMART Domains |
Protein: ENSMUSP00000140486 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
Pfam:WW
|
1 |
24 |
8.1e-5 |
PFAM |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
PTB
|
106 |
253 |
1.8e-40 |
SMART |
PTB
|
279 |
408 |
9.5e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189072
|
SMART Domains |
Protein: ENSMUSP00000139575 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
Pfam:WW
|
1 |
24 |
8.1e-5 |
PFAM |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
PTB
|
106 |
253 |
1.8e-40 |
SMART |
PTB
|
279 |
408 |
9.5e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188726
|
Meta Mutation Damage Score |
0.0973 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012] PHENOTYPE: Homozygotes for a null allele are hypersensitive to ionizing radiation while mouse embryonic fibroblasts are hypersensitive to DNA damaging agents. Homozygotes for a second null allele display impaired performance in learning and memory tasks, with a striking deficit in reversal spatial learning. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230112D13Rik |
A |
G |
14: 34,234,099 (GRCm39) |
M64T |
unknown |
Het |
Adamts15 |
C |
T |
9: 30,813,493 (GRCm39) |
G891R |
probably damaging |
Het |
Adck5 |
G |
A |
15: 76,477,486 (GRCm39) |
V107I |
possibly damaging |
Het |
Aoc3 |
G |
A |
11: 101,223,131 (GRCm39) |
V456M |
possibly damaging |
Het |
Camsap3 |
A |
G |
8: 3,654,442 (GRCm39) |
H693R |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,406,509 (GRCm39) |
T414A |
probably benign |
Het |
Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
Coasy |
G |
T |
11: 100,976,696 (GRCm39) |
V489F |
probably damaging |
Het |
Ercc6 |
A |
T |
14: 32,274,578 (GRCm39) |
M574L |
probably benign |
Het |
Esrrb |
T |
C |
12: 86,552,598 (GRCm39) |
L180P |
probably damaging |
Het |
Fam83b |
A |
T |
9: 76,398,679 (GRCm39) |
V808D |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,909,100 (GRCm39) |
V2301I |
possibly damaging |
Het |
Ftdc1 |
C |
A |
16: 58,435,075 (GRCm39) |
R83S |
probably damaging |
Het |
Hyal4 |
T |
A |
6: 24,755,912 (GRCm39) |
Y43* |
probably null |
Het |
Hydin |
C |
A |
8: 111,257,685 (GRCm39) |
L2372M |
probably benign |
Het |
Lrrc4c |
T |
C |
2: 97,459,809 (GRCm39) |
V145A |
probably benign |
Het |
Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
Muc21 |
A |
C |
17: 35,929,105 (GRCm39) |
S1581A |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,142,577 (GRCm39) |
I913V |
possibly damaging |
Het |
Nat10 |
C |
T |
2: 103,561,719 (GRCm39) |
G654D |
probably damaging |
Het |
Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
Nup50l |
A |
T |
6: 96,142,677 (GRCm39) |
N122K |
possibly damaging |
Het |
Oas3 |
T |
C |
5: 120,907,128 (GRCm39) |
Y503C |
unknown |
Het |
Or11g7 |
C |
A |
14: 50,691,130 (GRCm39) |
T207K |
probably benign |
Het |
Pappa |
G |
T |
4: 65,233,029 (GRCm39) |
|
probably null |
Het |
Pfas |
A |
G |
11: 68,884,121 (GRCm39) |
|
probably null |
Het |
Pfas |
G |
T |
11: 68,881,573 (GRCm39) |
|
probably null |
Het |
Pign |
A |
T |
1: 105,519,422 (GRCm39) |
M500K |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,269,605 (GRCm39) |
K3313R |
probably benign |
Het |
Ptk2b |
A |
G |
14: 66,396,047 (GRCm39) |
V807A |
probably benign |
Het |
Ptpdc1 |
C |
T |
13: 48,740,286 (GRCm39) |
E382K |
probably damaging |
Het |
Rfpl4b |
A |
T |
10: 38,696,833 (GRCm39) |
I256N |
probably benign |
Het |
Skap1 |
C |
G |
11: 96,432,295 (GRCm39) |
S88* |
probably null |
Het |
Slc4a2 |
T |
C |
5: 24,640,884 (GRCm39) |
S742P |
probably damaging |
Het |
Supv3l1 |
T |
C |
10: 62,265,599 (GRCm39) |
D647G |
probably damaging |
Het |
Tmem184c |
A |
C |
8: 78,331,386 (GRCm39) |
V121G |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,507,421 (GRCm39) |
I118V |
probably benign |
Het |
Top1 |
T |
A |
2: 160,554,588 (GRCm39) |
Y446* |
probably null |
Het |
Trim37 |
A |
G |
11: 87,037,781 (GRCm39) |
R172G |
probably damaging |
Het |
Vgll4 |
C |
A |
6: 114,867,768 (GRCm39) |
|
probably null |
Het |
Vgll4 |
T |
A |
6: 114,867,769 (GRCm39) |
|
probably null |
Het |
Vmn1r5 |
T |
G |
6: 56,963,150 (GRCm39) |
I275S |
possibly damaging |
Het |
Vwde |
A |
T |
6: 13,187,874 (GRCm39) |
H584Q |
probably damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp282 |
T |
A |
6: 47,856,943 (GRCm39) |
W59R |
probably damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zswim2 |
T |
A |
2: 83,754,103 (GRCm39) |
T186S |
probably benign |
Het |
|
Other mutations in Apbb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02171:Apbb1
|
APN |
7 |
105,208,333 (GRCm39) |
splice site |
probably benign |
|
athena
|
UTSW |
7 |
105,215,902 (GRCm39) |
missense |
probably benign |
|
R0092:Apbb1
|
UTSW |
7 |
105,208,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R0348:Apbb1
|
UTSW |
7 |
105,214,510 (GRCm39) |
missense |
probably damaging |
0.98 |
R0633:Apbb1
|
UTSW |
7 |
105,208,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R1076:Apbb1
|
UTSW |
7 |
105,223,062 (GRCm39) |
missense |
probably benign |
0.09 |
R1332:Apbb1
|
UTSW |
7 |
105,214,750 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1658:Apbb1
|
UTSW |
7 |
105,223,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Apbb1
|
UTSW |
7 |
105,223,434 (GRCm39) |
missense |
probably benign |
|
R4230:Apbb1
|
UTSW |
7 |
105,216,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R4296:Apbb1
|
UTSW |
7 |
105,223,033 (GRCm39) |
missense |
probably benign |
0.16 |
R4385:Apbb1
|
UTSW |
7 |
105,216,483 (GRCm39) |
missense |
probably benign |
0.00 |
R4571:Apbb1
|
UTSW |
7 |
105,222,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R4647:Apbb1
|
UTSW |
7 |
105,214,745 (GRCm39) |
missense |
probably benign |
0.01 |
R4812:Apbb1
|
UTSW |
7 |
105,223,232 (GRCm39) |
missense |
probably damaging |
0.99 |
R5044:Apbb1
|
UTSW |
7 |
105,214,889 (GRCm39) |
intron |
probably benign |
|
R5109:Apbb1
|
UTSW |
7 |
105,214,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R5479:Apbb1
|
UTSW |
7 |
105,214,232 (GRCm39) |
missense |
probably damaging |
0.97 |
R5611:Apbb1
|
UTSW |
7 |
105,208,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Apbb1
|
UTSW |
7 |
105,208,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R5785:Apbb1
|
UTSW |
7 |
105,216,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R5850:Apbb1
|
UTSW |
7 |
105,216,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R5896:Apbb1
|
UTSW |
7 |
105,223,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R6151:Apbb1
|
UTSW |
7 |
105,223,459 (GRCm39) |
nonsense |
probably null |
|
R6186:Apbb1
|
UTSW |
7 |
105,216,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R6229:Apbb1
|
UTSW |
7 |
105,222,938 (GRCm39) |
missense |
probably damaging |
0.98 |
R6229:Apbb1
|
UTSW |
7 |
105,222,937 (GRCm39) |
missense |
probably damaging |
0.98 |
R6288:Apbb1
|
UTSW |
7 |
105,208,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R6295:Apbb1
|
UTSW |
7 |
105,215,902 (GRCm39) |
missense |
probably benign |
|
R6443:Apbb1
|
UTSW |
7 |
105,222,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R6729:Apbb1
|
UTSW |
7 |
105,214,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R7130:Apbb1
|
UTSW |
7 |
105,214,538 (GRCm39) |
missense |
probably damaging |
0.98 |
R7209:Apbb1
|
UTSW |
7 |
105,215,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R7467:Apbb1
|
UTSW |
7 |
105,215,339 (GRCm39) |
missense |
probably benign |
0.04 |
R7489:Apbb1
|
UTSW |
7 |
105,216,687 (GRCm39) |
missense |
probably benign |
0.30 |
R7588:Apbb1
|
UTSW |
7 |
105,223,173 (GRCm39) |
missense |
probably benign |
0.29 |
R7754:Apbb1
|
UTSW |
7 |
105,208,509 (GRCm39) |
missense |
probably damaging |
0.97 |
R7768:Apbb1
|
UTSW |
7 |
105,216,295 (GRCm39) |
missense |
probably benign |
|
R7785:Apbb1
|
UTSW |
7 |
105,216,630 (GRCm39) |
missense |
probably benign |
0.00 |
R7804:Apbb1
|
UTSW |
7 |
105,215,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R7809:Apbb1
|
UTSW |
7 |
105,223,014 (GRCm39) |
missense |
probably benign |
0.04 |
R7995:Apbb1
|
UTSW |
7 |
105,214,852 (GRCm39) |
missense |
probably benign |
0.09 |
R9206:Apbb1
|
UTSW |
7 |
105,208,727 (GRCm39) |
missense |
probably damaging |
0.97 |
R9208:Apbb1
|
UTSW |
7 |
105,208,727 (GRCm39) |
missense |
probably damaging |
0.97 |
R9225:Apbb1
|
UTSW |
7 |
105,218,063 (GRCm39) |
missense |
|
|
Z1088:Apbb1
|
UTSW |
7 |
105,208,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACGGCAGCACACATGATGAATAG -3'
(R):5'- AATGTGACCTTGACCTTGGCGGAG -3'
Sequencing Primer
(F):5'- CCCCTGACTGAGAGAATGTTG -3'
(R):5'- GCATCTATACTCTGAGCTGGAGC -3'
|
Posted On |
2013-11-08 |