Incidental Mutation 'IGL02965:Add1'
| ID |
365529 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Add1
|
| Ensembl Gene |
ENSMUSG00000029106 |
| Gene Name |
adducin 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
IGL02965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
34731008-34789652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34777467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 77
(S77G)
|
| 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 benign
Transcript: ENSMUST00000001108
AA Change: S563G
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000001108
Gene: ENSMUSG00000029106
AA Change: S563G
| 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 benign
Transcript: ENSMUST00000052836
AA Change: S563G
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052266
Gene: ENSMUSG00000029106
AA Change: S563G
| 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 benign
Transcript: ENSMUST00000114335
AA Change: S532G
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109974
Gene: ENSMUSG00000029106
AA Change: S532G
| 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 |
possibly damaging
Transcript: ENSMUST00000114338
AA Change: S532G
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109977
Gene: ENSMUSG00000029106
AA Change: S532G
| 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 |
possibly damaging
Transcript: ENSMUST00000114340
AA Change: S532G
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109979
Gene: ENSMUSG00000029106
AA Change: S532G
| 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 damaging
Transcript: ENSMUST00000201810
AA Change: S77G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144673
Gene: ENSMUSG00000029106
AA Change: S77G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
142 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152805
AA Change: S59G
|
| SMART Domains |
Protein: ENSMUSP00000121402
Gene: ENSMUSG00000029106
AA Change: S59G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
95 |
127 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144226
|
| Coding Region Coverage |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,071,439 (GRCm39) |
K1471R |
probably benign |
Het |
| Atm |
G |
T |
9: 53,364,863 (GRCm39) |
N2642K |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,767,267 (GRCm39) |
M10K |
possibly damaging |
Het |
| Btd |
T |
A |
14: 31,389,193 (GRCm39) |
S305T |
probably damaging |
Het |
| Cmya5 |
C |
T |
13: 93,229,065 (GRCm39) |
V2008I |
probably benign |
Het |
| Cpd |
T |
G |
11: 76,681,814 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
A |
G |
9: 64,217,766 (GRCm39) |
F772L |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,222,091 (GRCm39) |
I517N |
probably damaging |
Het |
| Fig4 |
G |
A |
10: 41,161,661 (GRCm39) |
T34M |
probably damaging |
Het |
| Flna |
C |
T |
X: 73,270,816 (GRCm39) |
V2235I |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,950,031 (GRCm39) |
I371T |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,813,398 (GRCm39) |
S3239N |
probably benign |
Het |
| Gbp3 |
A |
G |
3: 142,273,343 (GRCm39) |
I297V |
probably benign |
Het |
| Gcnt3 |
T |
C |
9: 69,942,235 (GRCm39) |
E111G |
probably benign |
Het |
| Gdi1 |
G |
T |
X: 73,351,331 (GRCm39) |
A148S |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,060,502 (GRCm39) |
H2058Y |
probably benign |
Het |
| Hsp90aa1 |
A |
G |
12: 110,662,113 (GRCm39) |
M1T |
probably null |
Het |
| Il22b |
A |
G |
10: 118,130,762 (GRCm39) |
S45P |
probably damaging |
Het |
| Inppl1 |
C |
A |
7: 101,477,478 (GRCm39) |
V715F |
possibly damaging |
Het |
| Kansl1 |
T |
C |
11: 104,225,991 (GRCm39) |
Y975C |
probably damaging |
Het |
| Kif18b |
A |
G |
11: 102,807,338 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
A |
11: 99,432,492 (GRCm39) |
R175W |
probably damaging |
Het |
| Map3k19 |
T |
C |
1: 127,751,803 (GRCm39) |
D516G |
probably damaging |
Het |
| Mfsd3 |
A |
G |
15: 76,587,352 (GRCm39) |
H345R |
probably benign |
Het |
| Mlkl |
A |
T |
8: 112,058,469 (GRCm39) |
I162N |
probably benign |
Het |
| Mtnr1a |
A |
T |
8: 45,522,419 (GRCm39) |
N58I |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,951,774 (GRCm39) |
V499A |
probably damaging |
Het |
| Nudt6 |
A |
G |
3: 37,473,655 (GRCm39) |
L22P |
probably damaging |
Het |
| Nxf7 |
T |
G |
X: 134,490,159 (GRCm39) |
E35A |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,653 (GRCm39) |
I289L |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,095,629 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
G |
T |
18: 37,557,021 (GRCm39) |
V784L |
probably benign |
Het |
| Pglyrp2 |
T |
C |
17: 32,637,560 (GRCm39) |
D156G |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,106,939 (GRCm39) |
D670G |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,967,443 (GRCm39) |
H945Q |
probably benign |
Het |
| Ptk6 |
C |
T |
2: 180,840,861 (GRCm39) |
|
probably benign |
Het |
| Rftn1 |
C |
T |
17: 50,362,280 (GRCm39) |
E273K |
probably benign |
Het |
| Rnf125 |
A |
G |
18: 21,116,168 (GRCm39) |
I117V |
probably benign |
Het |
| Robo4 |
A |
G |
9: 37,321,765 (GRCm39) |
K742R |
possibly damaging |
Het |
| Sez6l |
T |
C |
5: 112,623,440 (GRCm39) |
E37G |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,993,218 (GRCm39) |
I306L |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,506,081 (GRCm39) |
Y497* |
probably null |
Het |
| Snx27 |
C |
A |
3: 94,489,733 (GRCm39) |
V42L |
probably damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,365,187 (GRCm39) |
T199S |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,235,301 (GRCm39) |
Y72H |
probably benign |
Het |
| Spef2 |
G |
T |
15: 9,725,192 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
G |
T |
14: 73,816,871 (GRCm39) |
V204L |
probably benign |
Het |
| Tescl |
C |
A |
7: 24,033,098 (GRCm39) |
V76F |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,928,628 (GRCm39) |
Y2681N |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,713,769 (GRCm39) |
T2A |
probably damaging |
Het |
| Vdac3-ps1 |
T |
A |
13: 18,205,431 (GRCm39) |
|
noncoding transcript |
Het |
| Wapl |
T |
A |
14: 34,461,181 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R6356:Add1
|
UTSW |
5 |
34,776,740 (GRCm39) |
missense |
probably null |
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation