Incidental Mutation 'R6356:Add1'
| ID |
513003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Add1
|
| Ensembl Gene |
ENSMUSG00000029106 |
| Gene Name |
adducin 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R6356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
34731008-34789652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34776740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 32
(N32S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001108]
[ENSMUST00000052836]
[ENSMUST00000114335]
[ENSMUST00000114338]
[ENSMUST00000114340]
[ENSMUST00000135321]
[ENSMUST00000201810]
|
| AlphaFold |
Q9QYC0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001108
AA Change: N518S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001108
Gene: ENSMUSG00000029106
AA Change: N518S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Aldolase_II
|
147 |
329 |
5.49e-58 |
SMART |
|
coiled coil region
|
599 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000052836
AA Change: N518S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052266
Gene: ENSMUSG00000029106
AA Change: N518S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Aldolase_II
|
147 |
329 |
5.49e-58 |
SMART |
|
coiled coil region
|
599 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114335
AA Change: N487S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109974
Gene: ENSMUSG00000029106
AA Change: N487S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Aldolase_II
|
147 |
329 |
5.49e-58 |
SMART |
|
coiled coil region
|
597 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114338
AA Change: N487S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109977
Gene: ENSMUSG00000029106
AA Change: N487S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Aldolase_II
|
147 |
329 |
5.49e-58 |
SMART |
|
coiled coil region
|
568 |
600 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114340
AA Change: N487S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109979
Gene: ENSMUSG00000029106
AA Change: N487S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Aldolase_II
|
147 |
329 |
5.49e-58 |
SMART |
|
coiled coil region
|
568 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
733 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135321
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137262
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152805
AA Change: N14S
|
| SMART Domains |
Protein: ENSMUSP00000121402
Gene: ENSMUSG00000029106
AA Change: N14S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
95 |
127 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201810
AA Change: N32S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144673
Gene: ENSMUSG00000029106
AA Change: N32S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
142 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139044
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted gene deletion leads to reduced growth and compensated hemolytic anemia. RBCs are osmotically fragile, dehydrated, and spherocytic with severe loss of membrane surface area and reduced MCV. ~50% of homozygotes develop lethal hydrocephaly with dilation of the lateral, 3rd, and 4th ventricles. [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 |
|---|
| 1700017B05Rik |
A |
T |
9: 57,161,292 (GRCm39) |
S152T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,093,901 (GRCm39) |
V140A |
probably damaging |
Het |
| Agap2 |
T |
C |
10: 126,918,865 (GRCm39) |
S414P |
unknown |
Het |
| Arhgef38 |
A |
G |
3: 132,846,638 (GRCm39) |
F376L |
probably benign |
Het |
| Cd22 |
A |
T |
7: 30,577,127 (GRCm39) |
I60N |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,274,626 (GRCm39) |
D488V |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,392,729 (GRCm39) |
|
probably benign |
Het |
| Cox16 |
T |
G |
12: 81,519,115 (GRCm39) |
D148A |
probably damaging |
Het |
| Dclre1b |
G |
A |
3: 103,715,471 (GRCm39) |
T9I |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,743,686 (GRCm39) |
V1176A |
probably benign |
Het |
| Echdc1 |
A |
C |
10: 29,220,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
G |
11: 104,784,533 (GRCm39) |
K2772E |
probably benign |
Het |
| Efnb3 |
G |
A |
11: 69,446,966 (GRCm39) |
A248V |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,033,173 (GRCm39) |
R107G |
probably benign |
Het |
| Gtf2h4 |
A |
G |
17: 35,980,647 (GRCm39) |
S279P |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,791,402 (GRCm39) |
C2579R |
probably damaging |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,441 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Krtap5-2 |
T |
C |
7: 141,729,119 (GRCm39) |
|
probably benign |
Het |
| Lcn11 |
G |
T |
2: 25,668,132 (GRCm39) |
G97* |
probably null |
Het |
| Lrrtm3 |
G |
A |
10: 63,765,943 (GRCm39) |
T548M |
probably benign |
Het |
| Map3k2 |
A |
T |
18: 32,345,023 (GRCm39) |
T283S |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,493 (GRCm39) |
K2292E |
possibly damaging |
Het |
| Med23 |
G |
T |
10: 24,764,311 (GRCm39) |
C98F |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,257,652 (GRCm39) |
F26Y |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,366,416 (GRCm39) |
M2160K |
probably benign |
Het |
| Myocd |
T |
C |
11: 65,109,396 (GRCm39) |
|
probably null |
Het |
| Nup160 |
T |
A |
2: 90,542,279 (GRCm39) |
|
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,313 (GRCm39) |
S687P |
probably damaging |
Het |
| Olr1 |
A |
T |
6: 129,470,522 (GRCm39) |
L215Q |
probably benign |
Het |
| Or5ak23 |
T |
A |
2: 85,245,031 (GRCm39) |
Q64L |
probably damaging |
Het |
| Or6c216 |
T |
A |
10: 129,678,477 (GRCm39) |
S145C |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,947,440 (GRCm39) |
K1414R |
possibly damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,280,976 (GRCm39) |
V96A |
probably benign |
Het |
| Prim1 |
T |
A |
10: 127,859,704 (GRCm39) |
Y299N |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,311,141 (GRCm39) |
S624P |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,101,018 (GRCm39) |
I687N |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,971,830 (GRCm39) |
F801L |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,789,014 (GRCm39) |
I16T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trim8 |
T |
G |
19: 46,503,797 (GRCm39) |
S450A |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,276,562 (GRCm39) |
T848A |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,783,368 (GRCm39) |
S523G |
possibly damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,902,926 (GRCm39) |
M501L |
probably benign |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,048 (GRCm39) |
V235M |
possibly damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,673,251 (GRCm39) |
V1434M |
probably damaging |
Het |
| Zmym5 |
A |
T |
14: 57,031,622 (GRCm39) |
N495K |
possibly damaging |
Het |
|
| Other mutations in Add1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Add1
|
APN |
5 |
34,770,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01370:Add1
|
APN |
5 |
34,787,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01670:Add1
|
APN |
5 |
34,777,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Add1
|
APN |
5 |
34,777,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03178:Add1
|
APN |
5 |
34,771,589 (GRCm39) |
splice site |
probably null |
|
|
R0126:Add1
|
UTSW |
5 |
34,770,923 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0189:Add1
|
UTSW |
5 |
34,773,992 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0195:Add1
|
UTSW |
5 |
34,767,990 (GRCm39) |
unclassified |
probably benign |
|
|
R0318:Add1
|
UTSW |
5 |
34,782,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0605:Add1
|
UTSW |
5 |
34,771,568 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0624:Add1
|
UTSW |
5 |
34,763,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Add1
|
UTSW |
5 |
34,767,961 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1573:Add1
|
UTSW |
5 |
34,758,740 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2512:Add1
|
UTSW |
5 |
34,774,030 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2965:Add1
|
UTSW |
5 |
34,788,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2966:Add1
|
UTSW |
5 |
34,788,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5646:Add1
|
UTSW |
5 |
34,788,024 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5993:Add1
|
UTSW |
5 |
34,758,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6514:Add1
|
UTSW |
5 |
34,763,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6536:Add1
|
UTSW |
5 |
34,758,780 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6659:Add1
|
UTSW |
5 |
34,770,639 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7326:Add1
|
UTSW |
5 |
34,776,715 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7473:Add1
|
UTSW |
5 |
34,776,697 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8177:Add1
|
UTSW |
5 |
34,774,049 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9084:Add1
|
UTSW |
5 |
34,763,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Add1
|
UTSW |
5 |
34,770,622 (GRCm39) |
unclassified |
probably benign |
|
|
R9169:Add1
|
UTSW |
5 |
34,788,122 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9436:Add1
|
UTSW |
5 |
34,763,273 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Add1
|
UTSW |
5 |
34,770,744 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATGGCGACTCTACTGGGTG -3'
(R):5'- TTAAGAACAGTGGGACCCTCAC -3'
Sequencing Primer
(F):5'- TGACCCAGGAAATGTGGTCATTG -3'
(R):5'- CTATGAGCAGAAGCACCAATATG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation