Incidental Mutation 'R4192:Add3'
| ID |
318378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Add3
|
| Ensembl Gene |
ENSMUSG00000025026 |
| Gene Name |
adducin 3 |
| Synonyms |
|
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
53128874-53235518 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 53230955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 543
(D543E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025999]
[ENSMUST00000050096]
[ENSMUST00000111741]
|
| AlphaFold |
Q9QYB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025999
AA Change: D543E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025999
Gene: ENSMUSG00000025026
AA Change: D543E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
114 |
N/A |
INTRINSIC |
|
Aldolase_II
|
139 |
321 |
1.62e-46 |
SMART |
|
coiled coil region
|
556 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
703 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050096
AA Change: D543E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000052245
Gene: ENSMUSG00000025026
AA Change: D543E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
114 |
N/A |
INTRINSIC |
|
Aldolase_II
|
139 |
321 |
1.62e-46 |
SMART |
|
low complexity region
|
618 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
671 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111741
AA Change: D543E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107370
Gene: ENSMUSG00000025026
AA Change: D543E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
114 |
N/A |
INTRINSIC |
|
Aldolase_II
|
139 |
321 |
1.62e-46 |
SMART |
|
coiled coil region
|
556 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
703 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal blood pressure and show no significant alterations in red blood cell or platelet structure and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,785,238 (GRCm39) |
D418A |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,935,936 (GRCm39) |
V260D |
probably damaging |
Het |
| Cfh |
C |
T |
1: 140,030,454 (GRCm39) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,253,860 (GRCm39) |
D182E |
probably benign |
Het |
| Epb42 |
G |
T |
2: 120,860,570 (GRCm39) |
|
probably null |
Het |
| Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,518,998 (GRCm39) |
D1710G |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Gm8369 |
C |
T |
19: 11,479,596 (GRCm39) |
P9S |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,472 (GRCm39) |
D541G |
probably damaging |
Het |
| Ints4 |
T |
G |
7: 97,156,940 (GRCm39) |
H337Q |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,663,904 (GRCm39) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,915,098 (GRCm39) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,412,188 (GRCm39) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,555,534 (GRCm39) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm39) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 55,946,997 (GRCm39) |
F342S |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,415,573 (GRCm39) |
L499Q |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,166,025 (GRCm39) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,942,785 (GRCm39) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,853,207 (GRCm39) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,184,648 (GRCm39) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,758,377 (GRCm39) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,501,962 (GRCm39) |
T207A |
possibly damaging |
Het |
| Spata31f3 |
A |
T |
4: 42,874,185 (GRCm39) |
|
probably benign |
Het |
| Syt12 |
T |
A |
19: 4,497,709 (GRCm39) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,330,857 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,435 (GRCm39) |
T132A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn1r27 |
A |
C |
6: 58,192,812 (GRCm39) |
I14R |
probably damaging |
Het |
|
| Other mutations in Add3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01744:Add3
|
APN |
19 |
53,227,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02177:Add3
|
APN |
19 |
53,205,323 (GRCm39) |
nonsense |
probably null |
|
|
IGL03093:Add3
|
APN |
19 |
53,219,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03047:Add3
|
UTSW |
19 |
53,231,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4243001:Add3
|
UTSW |
19 |
53,225,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4366001:Add3
|
UTSW |
19 |
53,205,298 (GRCm39) |
missense |
unknown |
|
|
R0087:Add3
|
UTSW |
19 |
53,215,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Add3
|
UTSW |
19 |
53,225,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0346:Add3
|
UTSW |
19 |
53,205,387 (GRCm39) |
nonsense |
probably null |
|
|
R0514:Add3
|
UTSW |
19 |
53,225,274 (GRCm39) |
nonsense |
probably null |
|
|
R0692:Add3
|
UTSW |
19 |
53,205,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Add3
|
UTSW |
19 |
53,222,109 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1747:Add3
|
UTSW |
19 |
53,230,981 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2926:Add3
|
UTSW |
19 |
53,215,253 (GRCm39) |
splice site |
probably null |
|
|
R4780:Add3
|
UTSW |
19 |
53,223,223 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5019:Add3
|
UTSW |
19 |
53,231,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5486:Add3
|
UTSW |
19 |
53,232,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5526:Add3
|
UTSW |
19 |
53,215,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Add3
|
UTSW |
19 |
53,233,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5851:Add3
|
UTSW |
19 |
53,225,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5863:Add3
|
UTSW |
19 |
53,222,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5951:Add3
|
UTSW |
19 |
53,232,720 (GRCm39) |
splice site |
probably null |
|
|
R6229:Add3
|
UTSW |
19 |
53,223,277 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7017:Add3
|
UTSW |
19 |
53,222,284 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7190:Add3
|
UTSW |
19 |
53,205,330 (GRCm39) |
nonsense |
probably null |
|
|
R7222:Add3
|
UTSW |
19 |
53,205,277 (GRCm39) |
missense |
unknown |
|
|
R7231:Add3
|
UTSW |
19 |
53,221,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7532:Add3
|
UTSW |
19 |
53,220,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Add3
|
UTSW |
19 |
53,227,868 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7726:Add3
|
UTSW |
19 |
53,227,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9063:Add3
|
UTSW |
19 |
53,222,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9069:Add3
|
UTSW |
19 |
53,222,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9371:Add3
|
UTSW |
19 |
53,221,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9550:Add3
|
UTSW |
19 |
53,233,521 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTATGAAGTTGGGTAATCACAAAC -3'
(R):5'- TGGACTGCAGAGTGGTTCTC -3'
Sequencing Primer
(F):5'- ACAAACGTTTATTTTGTGTGTATGC -3'
(R):5'- TTCTCTATGGAAAGGTCTAGAGCAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation