Incidental Mutation 'R5646:Add1'
ID |
441138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Add1
|
Ensembl Gene |
ENSMUSG00000029106 |
Gene Name |
adducin 1 |
Synonyms |
|
MMRRC Submission |
043294-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R5646 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
34731008-34789652 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34788024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 691
(A691D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001108]
[ENSMUST00000001109]
[ENSMUST00000052836]
[ENSMUST00000114329]
[ENSMUST00000114331]
[ENSMUST00000114335]
[ENSMUST00000114338]
[ENSMUST00000114340]
[ENSMUST00000126257]
[ENSMUST00000134156]
[ENSMUST00000137150]
[ENSMUST00000137506]
[ENSMUST00000149657]
[ENSMUST00000201147]
[ENSMUST00000202378]
[ENSMUST00000155577]
[ENSMUST00000201810]
|
AlphaFold |
Q9QYC0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001108
|
SMART Domains |
Protein: ENSMUSP00000001108 Gene: ENSMUSG00000029106
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: ENSMUST00000001109
|
SMART Domains |
Protein: ENSMUSP00000001109 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
29 |
413 |
6.9e-41 |
PFAM |
Pfam:Sugar_tr
|
62 |
235 |
7.9e-9 |
PFAM |
transmembrane domain
|
422 |
444 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052836
|
SMART Domains |
Protein: ENSMUSP00000052266 Gene: ENSMUSG00000029106
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: ENSMUST00000114329
|
SMART Domains |
Protein: ENSMUSP00000109968 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
29 |
413 |
6.8e-41 |
PFAM |
Pfam:Sugar_tr
|
71 |
228 |
2.3e-9 |
PFAM |
transmembrane domain
|
422 |
444 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114331
|
SMART Domains |
Protein: ENSMUSP00000109970 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
29 |
413 |
6.8e-41 |
PFAM |
Pfam:Sugar_tr
|
71 |
228 |
2.3e-9 |
PFAM |
transmembrane domain
|
422 |
444 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114335
|
SMART Domains |
Protein: ENSMUSP00000109974 Gene: ENSMUSG00000029106
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 benign
Transcript: ENSMUST00000114338
|
SMART Domains |
Protein: ENSMUSP00000109977 Gene: ENSMUSG00000029106
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 |
noncoding transcript
Transcript: ENSMUST00000137262
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114340
AA Change: A691D
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000109979 Gene: ENSMUSG00000029106 AA Change: A691D
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 |
noncoding transcript
Transcript: ENSMUST00000130347
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148270
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139044
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128670
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138212
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151247
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126257
|
SMART Domains |
Protein: ENSMUSP00000144630 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
29 |
139 |
5.8e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134156
|
SMART Domains |
Protein: ENSMUSP00000143812 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137150
|
SMART Domains |
Protein: ENSMUSP00000120814 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137506
|
SMART Domains |
Protein: ENSMUSP00000144121 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
31 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149657
|
SMART Domains |
Protein: ENSMUSP00000118786 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
29 |
261 |
1.3e-26 |
PFAM |
Pfam:Sugar_tr
|
71 |
228 |
9.3e-10 |
PFAM |
Pfam:TRI12
|
76 |
232 |
3.4e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200717
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202065
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201147
|
SMART Domains |
Protein: ENSMUSP00000144239 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
95 |
N/A |
INTRINSIC |
low complexity region
|
104 |
130 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202378
|
SMART Domains |
Protein: ENSMUSP00000144117 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
transmembrane domain
|
24 |
43 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155577
|
SMART Domains |
Protein: ENSMUSP00000115204 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
29 |
269 |
1.1e-27 |
PFAM |
Pfam:Sugar_tr
|
71 |
228 |
9.6e-10 |
PFAM |
Pfam:TRI12
|
76 |
232 |
3.8e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152805
|
SMART Domains |
Protein: ENSMUSP00000121402 Gene: ENSMUSG00000029106
Domain | Start | End | E-Value | Type |
coiled coil region
|
95 |
127 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201810
|
SMART Domains |
Protein: ENSMUSP00000144673 Gene: ENSMUSG00000029106
Domain | Start | End | E-Value | Type |
coiled coil region
|
142 |
174 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap3 |
C |
A |
5: 24,688,395 (GRCm39) |
D394E |
probably benign |
Het |
Arhgef11 |
T |
C |
3: 87,591,793 (GRCm39) |
V59A |
possibly damaging |
Het |
Atp2a1 |
A |
G |
7: 126,052,277 (GRCm39) |
V402A |
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,490,011 (GRCm39) |
F261L |
probably benign |
Het |
Bsn |
A |
T |
9: 107,987,631 (GRCm39) |
|
probably benign |
Het |
Camk1 |
A |
G |
6: 113,316,301 (GRCm39) |
V81A |
probably damaging |
Het |
Cass4 |
T |
G |
2: 172,258,165 (GRCm39) |
C54W |
probably damaging |
Het |
Ccdc39 |
A |
T |
3: 33,879,699 (GRCm39) |
F456L |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,933,659 (GRCm39) |
E766G |
probably damaging |
Het |
Cdcp2 |
T |
C |
4: 106,962,339 (GRCm39) |
C171R |
probably damaging |
Het |
Cdh9 |
G |
A |
15: 16,823,371 (GRCm39) |
E118K |
probably damaging |
Het |
Col4a2 |
G |
A |
8: 11,491,281 (GRCm39) |
G1227R |
probably damaging |
Het |
Cyp2d9 |
A |
G |
15: 82,336,665 (GRCm39) |
T5A |
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,208,767 (GRCm39) |
D813V |
probably damaging |
Het |
Dmtf1 |
G |
A |
5: 9,174,515 (GRCm39) |
S405F |
possibly damaging |
Het |
Drd2 |
A |
G |
9: 49,316,212 (GRCm39) |
K324R |
probably benign |
Het |
Ergic1 |
T |
C |
17: 26,833,332 (GRCm39) |
S29P |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,087,338 (GRCm39) |
|
probably benign |
Het |
Foxd2 |
C |
T |
4: 114,765,832 (GRCm39) |
A63T |
unknown |
Het |
Gfap |
T |
C |
11: 102,782,282 (GRCm39) |
I409M |
probably benign |
Het |
Gfpt1 |
A |
G |
6: 87,019,981 (GRCm39) |
M1V |
probably null |
Het |
H2-T23 |
C |
G |
17: 36,342,695 (GRCm39) |
E148Q |
possibly damaging |
Het |
Hip1 |
G |
A |
5: 135,457,595 (GRCm39) |
R704W |
probably damaging |
Het |
Kif19a |
A |
C |
11: 114,670,480 (GRCm39) |
D130A |
probably damaging |
Het |
Lin7b |
T |
C |
7: 45,018,617 (GRCm39) |
D14G |
probably damaging |
Het |
Meioc |
T |
A |
11: 102,566,083 (GRCm39) |
N510K |
possibly damaging |
Het |
Mettl5 |
C |
A |
2: 69,711,663 (GRCm39) |
G68* |
probably null |
Het |
Mitf |
A |
T |
6: 97,990,655 (GRCm39) |
I184F |
probably damaging |
Het |
Mmp9 |
T |
A |
2: 164,790,970 (GRCm39) |
H119Q |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,407,346 (GRCm39) |
H2768L |
probably benign |
Het |
Myh2 |
A |
T |
11: 67,079,638 (GRCm39) |
I1032F |
probably benign |
Het |
Myo3b |
T |
C |
2: 70,144,774 (GRCm39) |
I1110T |
probably damaging |
Het |
Nde1 |
T |
C |
16: 13,987,378 (GRCm39) |
F8L |
probably damaging |
Het |
Or10aa3 |
C |
T |
1: 173,878,853 (GRCm39) |
Q305* |
probably null |
Het |
Or2a25 |
A |
G |
6: 42,888,457 (GRCm39) |
|
probably null |
Het |
Or2h2b-ps1 |
T |
C |
17: 37,480,808 (GRCm39) |
I244V |
probably benign |
Het |
Or4f47 |
T |
C |
2: 111,973,028 (GRCm39) |
V246A |
possibly damaging |
Het |
Or51r1 |
A |
C |
7: 102,228,512 (GRCm39) |
Y270S |
possibly damaging |
Het |
Or5ac20 |
C |
T |
16: 59,104,342 (GRCm39) |
V173I |
probably benign |
Het |
Or6c202 |
T |
C |
10: 128,996,706 (GRCm39) |
D49G |
possibly damaging |
Het |
Pcdhga8 |
A |
G |
18: 37,859,823 (GRCm39) |
H293R |
probably benign |
Het |
Pde7a |
A |
T |
3: 19,287,937 (GRCm39) |
L244Q |
probably damaging |
Het |
Pex14 |
T |
C |
4: 149,045,910 (GRCm39) |
D340G |
probably benign |
Het |
Pfkfb4 |
A |
T |
9: 108,837,489 (GRCm39) |
I195F |
probably damaging |
Het |
Pik3c2a |
C |
A |
7: 116,005,186 (GRCm39) |
G361W |
probably damaging |
Het |
Prkcg |
T |
A |
7: 3,377,597 (GRCm39) |
M517K |
probably damaging |
Het |
Prob1 |
A |
T |
18: 35,787,167 (GRCm39) |
F362L |
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,937 (GRCm39) |
W232* |
probably null |
Het |
Robo2 |
T |
C |
16: 73,758,707 (GRCm39) |
D688G |
probably damaging |
Het |
Sec24c |
C |
A |
14: 20,729,641 (GRCm39) |
A73E |
probably benign |
Het |
Slc15a3 |
A |
G |
19: 10,820,574 (GRCm39) |
N64D |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,811,782 (GRCm39) |
N65K |
probably benign |
Het |
Spata31h1 |
A |
G |
10: 82,119,610 (GRCm39) |
S4467P |
probably damaging |
Het |
Sptb |
G |
T |
12: 76,634,215 (GRCm39) |
D2165E |
probably benign |
Het |
Sptbn5 |
A |
T |
2: 119,879,292 (GRCm39) |
|
noncoding transcript |
Het |
Syt12 |
A |
T |
19: 4,506,569 (GRCm39) |
M192K |
possibly damaging |
Het |
Tas2r107 |
A |
G |
6: 131,636,671 (GRCm39) |
V126A |
probably benign |
Het |
Thbs3 |
T |
C |
3: 89,126,405 (GRCm39) |
L242P |
probably damaging |
Het |
Timp2 |
A |
T |
11: 118,208,358 (GRCm39) |
|
probably null |
Het |
Tmtc1 |
G |
A |
6: 148,148,329 (GRCm39) |
A751V |
probably damaging |
Het |
Tnni2 |
A |
T |
7: 141,997,650 (GRCm39) |
D85V |
probably damaging |
Het |
Ttc39b |
G |
A |
4: 83,162,307 (GRCm39) |
P319L |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,622,805 (GRCm39) |
K68M |
probably damaging |
Het |
Usp25 |
G |
A |
16: 76,847,360 (GRCm39) |
R156Q |
probably benign |
Het |
Vill |
A |
T |
9: 118,900,230 (GRCm39) |
D365V |
probably damaging |
Het |
Vmn1r65 |
T |
A |
7: 6,012,223 (GRCm39) |
T4S |
probably benign |
Het |
Vmn2r76 |
C |
A |
7: 85,875,261 (GRCm39) |
C572F |
probably damaging |
Het |
Vps26a |
A |
C |
10: 62,304,077 (GRCm39) |
N181K |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,341,134 (GRCm39) |
L1125P |
probably damaging |
Het |
Zbtb41 |
T |
G |
1: 139,351,501 (GRCm39) |
S205A |
probably benign |
Het |
Zfp438 |
T |
C |
18: 5,214,526 (GRCm39) |
D144G |
probably benign |
Het |
Zfp600 |
T |
C |
4: 146,131,670 (GRCm39) |
S113P |
probably damaging |
Het |
Zfp84 |
C |
T |
7: 29,475,818 (GRCm39) |
T170M |
probably benign |
Het |
Zmiz2 |
T |
A |
11: 6,352,837 (GRCm39) |
D654E |
probably damaging |
Het |
Zswim4 |
A |
T |
8: 84,957,739 (GRCm39) |
|
probably null |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGATGCCACCACCTTCAAG -3'
(R):5'- TCCATTACACAGGAGGATAGAACAC -3'
Sequencing Primer
(F):5'- ACCTTCAAGCCGACGCC -3'
(R):5'- TGACAGAGCCAGGCCTGTAG -3'
|
Posted On |
2016-11-08 |