Incidental Mutation 'R2196:Apba3'
| ID |
238373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apba3
|
| Ensembl Gene |
ENSMUSG00000004931 |
| Gene Name |
amyloid beta precursor protein binding family A member 3 |
| Synonyms |
Mint 3, Mint-3, X11gamma, lin-10, neuron-specific X11L2 protein, neuronal munc18-1-interacting protein 3 |
| MMRRC Submission |
040198-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.523)
|
| Stock # |
R2196 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81102799-81109081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81107542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 350
(Y350C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045744]
[ENSMUST00000046114]
[ENSMUST00000057798]
[ENSMUST00000220297]
[ENSMUST00000219460]
[ENSMUST00000218742]
[ENSMUST00000219304]
[ENSMUST00000219479]
|
| AlphaFold |
O88888 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045744
|
| SMART Domains |
Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
20 |
93 |
2.81e-18 |
SMART |
|
low complexity region
|
119 |
162 |
N/A |
INTRINSIC |
|
PDZ
|
196 |
264 |
2.71e-11 |
SMART |
|
low complexity region
|
297 |
305 |
N/A |
INTRINSIC |
|
PDZ
|
378 |
451 |
4.97e-19 |
SMART |
|
SH3
|
466 |
539 |
9.96e-2 |
SMART |
|
low complexity region
|
548 |
559 |
N/A |
INTRINSIC |
|
GuKc
|
570 |
756 |
6.9e-46 |
SMART |
|
Blast:GuKc
|
767 |
898 |
9e-27 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046114
|
| SMART Domains |
Protein: ENSMUSP00000039951
Gene: ENSMUSG00000034932
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L37
|
60 |
103 |
4.7e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057798
AA Change: Y350C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931
AA Change: Y350C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
|
PTB
|
213 |
359 |
3.03e-40 |
SMART |
|
PDZ
|
400 |
478 |
3.74e-14 |
SMART |
|
PDZ
|
492 |
557 |
9.58e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217754
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220297
AA Change: Y350C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219460
AA Change: Y126C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219919
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218742
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218146
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218297
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219479
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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 X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Deletion in mutants causes abnormalities in colon morphology and physiology, increased circulating blood urea nitrogen, and decreased serum chloride, sodium and potassium levels. Surviving homozygotes display diarrhea, postnatal viability and decreased life span. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
A |
13: 12,290,065 (GRCm39) |
T734S |
probably damaging |
Het |
| Acvr2a |
A |
T |
2: 48,760,324 (GRCm39) |
T27S |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,781,432 (GRCm39) |
N2161K |
probably damaging |
Het |
| Bnipl |
T |
A |
3: 95,157,181 (GRCm39) |
R47S |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,651,800 (GRCm39) |
M126I |
probably damaging |
Het |
| Cep112 |
G |
A |
11: 108,461,187 (GRCm39) |
E329K |
probably damaging |
Het |
| Cep55 |
T |
A |
19: 38,057,558 (GRCm39) |
Y187N |
probably damaging |
Het |
| Cngb3 |
T |
C |
4: 19,415,690 (GRCm39) |
I400T |
possibly damaging |
Het |
| Csad |
T |
C |
15: 102,096,028 (GRCm39) |
N142D |
probably benign |
Het |
| Dars1 |
A |
T |
1: 128,306,595 (GRCm39) |
I195N |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,050,698 (GRCm39) |
L2454Q |
probably benign |
Het |
| Emc1 |
A |
T |
4: 139,093,841 (GRCm39) |
E650D |
probably benign |
Het |
| Enam |
A |
G |
5: 88,650,603 (GRCm39) |
D704G |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,477,683 (GRCm39) |
I2220N |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,035,566 (GRCm39) |
S3073P |
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,403,624 (GRCm39) |
M399T |
probably benign |
Het |
| Gcsh |
G |
A |
8: 117,715,909 (GRCm39) |
T58M |
possibly damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,726 (GRCm39) |
Y108H |
probably damaging |
Het |
| Gm5431 |
A |
T |
11: 48,780,058 (GRCm39) |
I566N |
probably damaging |
Het |
| Gnb5 |
A |
T |
9: 75,234,511 (GRCm39) |
D70V |
probably damaging |
Het |
| Grin2c |
G |
T |
11: 115,141,492 (GRCm39) |
S875R |
probably benign |
Het |
| Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,336,314 (GRCm39) |
E113G |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,900,116 (GRCm39) |
E934G |
probably damaging |
Het |
| Mkx |
A |
G |
18: 7,000,675 (GRCm39) |
L89P |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,400,847 (GRCm39) |
Y2982* |
probably null |
Het |
| Nedd4 |
C |
T |
9: 72,632,356 (GRCm39) |
L397F |
possibly damaging |
Het |
| Nom1 |
A |
G |
5: 29,641,019 (GRCm39) |
D353G |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,353,816 (GRCm39) |
L1937* |
probably null |
Het |
| Nrxn2 |
A |
T |
19: 6,540,139 (GRCm39) |
D820V |
probably damaging |
Het |
| Nup210 |
A |
T |
6: 91,032,226 (GRCm39) |
N47K |
probably benign |
Het |
| Or1j12 |
T |
A |
2: 36,342,600 (GRCm39) |
M1K |
probably null |
Het |
| Or4p21 |
G |
A |
2: 88,277,054 (GRCm39) |
T76I |
probably benign |
Het |
| Or6d14 |
A |
T |
6: 116,533,578 (GRCm39) |
Q64L |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,576,742 (GRCm39) |
I338F |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,799,046 (GRCm39) |
M2755T |
possibly damaging |
Het |
| Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,209,872 (GRCm39) |
S51P |
probably benign |
Het |
| Scn10a |
G |
A |
9: 119,438,070 (GRCm39) |
A1933V |
probably benign |
Het |
| Serpina1c |
T |
A |
12: 103,862,370 (GRCm39) |
Y315F |
probably damaging |
Het |
| Slc29a4 |
A |
C |
5: 142,698,650 (GRCm39) |
I104L |
possibly damaging |
Het |
| Spag16 |
G |
A |
1: 69,897,681 (GRCm39) |
V144I |
possibly damaging |
Het |
| Spata22 |
A |
G |
11: 73,236,660 (GRCm39) |
K322R |
probably benign |
Het |
| Sult2a8 |
T |
A |
7: 14,161,778 (GRCm39) |
I23L |
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,986,300 (GRCm39) |
V344D |
probably damaging |
Het |
| Tnn |
G |
C |
1: 159,924,798 (GRCm39) |
Y1185* |
probably null |
Het |
| Trpc4 |
A |
G |
3: 54,209,614 (GRCm39) |
I660V |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,571,144 (GRCm39) |
Y1222H |
probably benign |
Het |
| Usp4 |
A |
G |
9: 108,250,885 (GRCm39) |
E531G |
probably benign |
Het |
| Vmn2r93 |
C |
T |
17: 18,525,428 (GRCm39) |
S362L |
probably damaging |
Het |
| Zfhx3 |
G |
T |
8: 109,526,885 (GRCm39) |
E927D |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,786,469 (GRCm39) |
M1K |
probably null |
Het |
| Zp2 |
T |
C |
7: 119,737,529 (GRCm39) |
H252R |
probably benign |
Het |
|
| Other mutations in Apba3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Apba3
|
APN |
10 |
81,108,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00332:Apba3
|
APN |
10 |
81,108,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Apba3
|
APN |
10 |
81,108,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01924:Apba3
|
APN |
10 |
81,108,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02655:Apba3
|
APN |
10 |
81,108,788 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03163:Apba3
|
APN |
10 |
81,105,057 (GRCm39) |
splice site |
probably null |
|
|
R1381:Apba3
|
UTSW |
10 |
81,107,590 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2073:Apba3
|
UTSW |
10 |
81,105,128 (GRCm39) |
missense |
probably benign |
|
|
R2114:Apba3
|
UTSW |
10 |
81,108,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Apba3
|
UTSW |
10 |
81,108,443 (GRCm39) |
splice site |
probably null |
|
|
R4895:Apba3
|
UTSW |
10 |
81,107,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4936:Apba3
|
UTSW |
10 |
81,105,204 (GRCm39) |
splice site |
probably null |
|
|
R6576:Apba3
|
UTSW |
10 |
81,108,925 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7141:Apba3
|
UTSW |
10 |
81,108,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Apba3
|
UTSW |
10 |
81,107,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Apba3
|
UTSW |
10 |
81,104,735 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7599:Apba3
|
UTSW |
10 |
81,108,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8399:Apba3
|
UTSW |
10 |
81,104,832 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8791:Apba3
|
UTSW |
10 |
81,105,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8974:Apba3
|
UTSW |
10 |
81,109,032 (GRCm39) |
missense |
|
|
|
R9159:Apba3
|
UTSW |
10 |
81,106,867 (GRCm39) |
missense |
|
|
|
X0020:Apba3
|
UTSW |
10 |
81,106,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCTACAAGATGCTGTGCC -3'
(R):5'- ATAGGTCCATGGTCCCTTGG -3'
Sequencing Primer
(F):5'- ACAAGATGCTGTGCCATGTC -3'
(R):5'- CATGGTCCCTTGGGTGGCTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation