Incidental Mutation 'IGL01670:Add1'
| ID |
103450 |
| 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 # |
IGL01670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
34731008-34789652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34777407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 57
(Q57K)
|
| 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 damaging
Transcript: ENSMUST00000001108
AA Change: Q543K
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001108
Gene: ENSMUSG00000029106
AA Change: Q543K
| 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 damaging
Transcript: ENSMUST00000052836
AA Change: Q543K
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052266
Gene: ENSMUSG00000029106
AA Change: Q543K
| 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 damaging
Transcript: ENSMUST00000114335
AA Change: Q512K
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109974
Gene: ENSMUSG00000029106
AA Change: Q512K
| 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 damaging
Transcript: ENSMUST00000114338
AA Change: Q512K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109977
Gene: ENSMUSG00000029106
AA Change: Q512K
| 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 damaging
Transcript: ENSMUST00000114340
AA Change: Q512K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109979
Gene: ENSMUSG00000029106
AA Change: Q512K
| 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: Q57K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144673
Gene: ENSMUSG00000029106
AA Change: Q57K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
142 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152805
AA Change: Q39K
|
| SMART Domains |
Protein: ENSMUSP00000121402
Gene: ENSMUSG00000029106
AA Change: Q39K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
95 |
127 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139044
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
A |
C |
9: 106,314,006 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,655,132 (GRCm39) |
E3226G |
probably benign |
Het |
| Arl1 |
G |
T |
10: 88,577,884 (GRCm39) |
R151L |
probably damaging |
Het |
| Cabs1 |
T |
A |
5: 88,127,869 (GRCm39) |
D173E |
possibly damaging |
Het |
| Cdc34b |
T |
C |
11: 94,632,845 (GRCm39) |
L15P |
probably benign |
Het |
| Cdyl2 |
A |
G |
8: 117,351,092 (GRCm39) |
V13A |
probably damaging |
Het |
| Chd7 |
G |
T |
4: 8,827,033 (GRCm39) |
R1026L |
probably damaging |
Het |
| Cldn34b4 |
T |
C |
X: 75,441,195 (GRCm39) |
S151P |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,192,662 (GRCm39) |
I25N |
unknown |
Het |
| Crisp4 |
T |
A |
1: 18,198,901 (GRCm39) |
T178S |
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,407,164 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
G |
15: 47,475,225 (GRCm39) |
N2454H |
probably damaging |
Het |
| Cytip |
A |
T |
2: 58,023,785 (GRCm39) |
I345N |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,564,358 (GRCm39) |
S50T |
possibly damaging |
Het |
| Gm9747 |
C |
T |
1: 82,211,870 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,833 (GRCm39) |
F337S |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,394,342 (GRCm39) |
E4182G |
probably damaging |
Het |
| Isyna1 |
C |
T |
8: 71,049,706 (GRCm39) |
P511L |
probably benign |
Het |
| Kdm4a |
T |
C |
4: 118,017,698 (GRCm39) |
Y456C |
probably damaging |
Het |
| Kera |
A |
T |
10: 97,444,939 (GRCm39) |
R99S |
possibly damaging |
Het |
| Larp7-ps |
T |
C |
4: 92,079,737 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
A |
G |
6: 88,864,614 (GRCm39) |
|
probably benign |
Het |
| Myl12a |
T |
C |
17: 71,303,848 (GRCm39) |
T10A |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,550,102 (GRCm39) |
V1876A |
possibly damaging |
Het |
| Nkx6-1 |
T |
A |
5: 101,809,806 (GRCm39) |
Q247L |
probably benign |
Het |
| Nol8 |
A |
C |
13: 49,814,784 (GRCm39) |
K297N |
possibly damaging |
Het |
| Or4c119 |
T |
A |
2: 88,987,261 (GRCm39) |
Y86F |
probably benign |
Het |
| Or51e1 |
A |
T |
7: 102,358,772 (GRCm39) |
Q102L |
probably damaging |
Het |
| Or5w18 |
A |
G |
2: 87,633,224 (GRCm39) |
T164A |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,250,807 (GRCm39) |
N579Y |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,094,743 (GRCm39) |
L509H |
probably damaging |
Het |
| Prss29 |
T |
C |
17: 25,541,437 (GRCm39) |
S266P |
probably benign |
Het |
| Rapgef3 |
G |
T |
15: 97,647,543 (GRCm39) |
H766N |
probably benign |
Het |
| Rasa1 |
A |
T |
13: 85,373,609 (GRCm39) |
S818T |
probably damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,804,322 (GRCm39) |
M1V |
probably null |
Het |
| Sall1 |
A |
T |
8: 89,758,199 (GRCm39) |
V635D |
probably benign |
Het |
| Slc35b4 |
C |
T |
6: 34,147,484 (GRCm39) |
V35I |
probably benign |
Het |
| Slc5a11 |
G |
A |
7: 122,869,172 (GRCm39) |
A587T |
probably benign |
Het |
| Slc6a21 |
T |
C |
7: 44,937,557 (GRCm39) |
V616A |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,912,788 (GRCm39) |
S1398P |
possibly damaging |
Het |
| Srcap |
A |
G |
7: 127,127,604 (GRCm39) |
K390E |
probably damaging |
Het |
| Sycp2 |
C |
T |
2: 178,019,843 (GRCm39) |
E558K |
probably benign |
Het |
| Tcf20 |
T |
C |
15: 82,739,564 (GRCm39) |
N629S |
possibly damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,537 (GRCm39) |
Y29C |
probably damaging |
Het |
| Tmtc3 |
A |
G |
10: 100,282,987 (GRCm39) |
I856T |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,865,101 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation