Incidental Mutation 'R5785:Apbb1'
| ID |
447960 |
| 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 |
043206-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5785 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
105207690-105230860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 105216922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 254
(D254Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081165]
[ENSMUST00000186814]
[ENSMUST00000186868]
[ENSMUST00000187051]
[ENSMUST00000187057]
[ENSMUST00000187683]
[ENSMUST00000187721]
[ENSMUST00000188001]
[ENSMUST00000188368]
[ENSMUST00000189378]
[ENSMUST00000191011]
[ENSMUST00000191601]
[ENSMUST00000210079]
[ENSMUST00000188440]
[ENSMUST00000190369]
[ENSMUST00000189265]
[ENSMUST00000189072]
|
| AlphaFold |
Q9QXJ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081165
AA Change: D254Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079932
Gene: ENSMUSG00000037032
AA Change: D254Y
| 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: ENSMUST00000186814
|
| 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 damaging
Transcript: ENSMUST00000187057
AA Change: D31Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139899
Gene: ENSMUSG00000037032
AA Change: D31Y
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
31 |
62 |
3.7e-7 |
SMART |
|
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
|
PTB
|
142 |
287 |
3.8e-41 |
SMART |
|
PTB
|
313 |
442 |
9.5e-39 |
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 damaging
Transcript: ENSMUST00000187721
AA Change: D54Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140192
Gene: ENSMUSG00000037032
AA Change: D54Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000190961
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188001
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188368
AA Change: D31Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139788
Gene: ENSMUSG00000037032
AA Change: D31Y
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
31 |
62 |
3.7e-7 |
SMART |
|
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
|
PTB
|
142 |
289 |
1.8e-40 |
SMART |
|
PTB
|
315 |
444 |
9.5e-39 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189378
AA Change: D254Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140979
Gene: ENSMUSG00000037032
AA Change: D254Y
| 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 damaging
Transcript: ENSMUST00000191011
AA Change: D254Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140973
Gene: ENSMUSG00000037032
AA Change: D254Y
| 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 damaging
Transcript: ENSMUST00000191601
AA Change: D254Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140116
Gene: ENSMUSG00000037032
AA Change: D254Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000191250
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211614
|
| 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
T |
9: 99,502,725 (GRCm39) |
N295I |
probably damaging |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,621,618 (GRCm39) |
M328V |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,440,325 (GRCm39) |
V143D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,996 (GRCm39) |
D493G |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,566,992 (GRCm39) |
|
probably null |
Het |
| Clec4d |
A |
G |
6: 123,251,729 (GRCm39) |
R204G |
probably benign |
Het |
| Cngb1 |
C |
A |
8: 95,980,823 (GRCm39) |
R910L |
possibly damaging |
Het |
| Coro2a |
A |
T |
4: 46,564,691 (GRCm39) |
N18K |
probably benign |
Het |
| Cwf19l1 |
A |
G |
19: 44,110,380 (GRCm39) |
F290S |
probably damaging |
Het |
| Esp18 |
C |
T |
17: 39,720,839 (GRCm39) |
T28I |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,011,148 (GRCm39) |
F205Y |
probably benign |
Het |
| Hhip |
T |
A |
8: 80,724,821 (GRCm39) |
H317L |
possibly damaging |
Het |
| Il36b |
G |
A |
2: 24,044,661 (GRCm39) |
M20I |
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,306,168 (GRCm39) |
N276K |
probably damaging |
Het |
| Jchain |
T |
C |
5: 88,670,376 (GRCm39) |
N81S |
probably benign |
Het |
| Mei4 |
A |
G |
9: 81,907,600 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,339,904 (GRCm39) |
E20V |
possibly damaging |
Het |
| Ndufa10 |
A |
G |
1: 92,388,096 (GRCm39) |
|
probably null |
Het |
| Nodal |
A |
G |
10: 61,259,456 (GRCm39) |
T298A |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,966,863 (GRCm39) |
Y47C |
probably damaging |
Het |
| Onecut1 |
C |
T |
9: 74,770,674 (GRCm39) |
R366C |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,804,983 (GRCm39) |
Y259C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 16,761,616 (GRCm39) |
|
probably null |
Het |
| Prag1 |
A |
G |
8: 36,570,641 (GRCm39) |
E408G |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,648,809 (GRCm39) |
N949S |
probably damaging |
Het |
| Scn7a |
A |
C |
2: 66,527,912 (GRCm39) |
N859K |
possibly damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,322 (GRCm39) |
I1362T |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,501,022 (GRCm39) |
R343G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Trim80 |
C |
T |
11: 115,337,301 (GRCm39) |
Q388* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,818,861 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
T |
A |
17: 23,280,461 (GRCm39) |
S41T |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,444 (GRCm39) |
T896S |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,006 (GRCm39) |
E749G |
probably damaging |
Het |
| Zbtb24 |
G |
A |
10: 41,327,849 (GRCm39) |
G245E |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,487,167 (GRCm39) |
V767A |
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 |
|
R0946:Apbb1
|
UTSW |
7 |
105,223,062 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
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'- CCTGTTCTAGAAGACAGACCCTTC -3'
(R):5'- CACTGGTGGCTCCCAATATG -3'
Sequencing Primer
(F):5'- TTCCACCCCTGGCATGGAAC -3'
(R):5'- GCTCCCAATATGGTGACTCAAGTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation