Incidental Mutation 'R0318:Add1'
ID |
25493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Add1
|
Ensembl Gene |
ENSMUSG00000029106 |
Gene Name |
adducin 1 |
Synonyms |
|
MMRRC Submission |
038528-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R0318 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
34731008-34789652 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34782684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 130
(V130A)
|
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: V587A
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000001108 Gene: ENSMUSG00000029106 AA Change: V587A
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: V587A
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000052266 Gene: ENSMUSG00000029106 AA Change: V587A
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: V585A
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000109974 Gene: ENSMUSG00000029106 AA Change: V585A
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
AA Change: V556A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109977 Gene: ENSMUSG00000029106 AA Change: V556A
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 benign
Transcript: ENSMUST00000114340
AA Change: V556A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109979 Gene: ENSMUSG00000029106 AA Change: V556A
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: V130A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144673 Gene: ENSMUSG00000029106 AA Change: V130A
Domain | Start | End | E-Value | Type |
coiled coil region
|
142 |
174 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000152805
AA Change: V83A
|
SMART Domains |
Protein: ENSMUSP00000121402 Gene: ENSMUSG00000029106 AA Change: V83A
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 |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.5%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,892,370 (GRCm39) |
L79Q |
probably damaging |
Het |
Ankrd23 |
G |
T |
1: 36,573,153 (GRCm39) |
T73K |
probably benign |
Het |
Blk |
A |
G |
14: 63,611,646 (GRCm39) |
Y430H |
probably damaging |
Het |
C3 |
C |
T |
17: 57,531,709 (GRCm39) |
V272M |
probably damaging |
Het |
Cerk |
C |
T |
15: 86,035,766 (GRCm39) |
A254T |
possibly damaging |
Het |
Ces2a |
G |
A |
8: 105,467,456 (GRCm39) |
A494T |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,234,482 (GRCm39) |
Y258C |
probably damaging |
Het |
Chaf1a |
C |
T |
17: 56,369,227 (GRCm39) |
T486I |
possibly damaging |
Het |
Colec12 |
A |
G |
18: 9,848,446 (GRCm39) |
N208S |
possibly damaging |
Het |
Coro7 |
T |
A |
16: 4,493,671 (GRCm39) |
H63L |
probably benign |
Het |
Cps1 |
T |
A |
1: 67,216,173 (GRCm39) |
W833R |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,522,549 (GRCm39) |
W2707R |
probably damaging |
Het |
Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
Ddx50 |
A |
T |
10: 62,478,616 (GRCm39) |
I190K |
probably damaging |
Het |
Dnmt3l |
G |
A |
10: 77,890,889 (GRCm39) |
V264M |
probably damaging |
Het |
Dnpep |
A |
G |
1: 75,293,270 (GRCm39) |
V33A |
probably damaging |
Het |
Fam163a |
A |
G |
1: 155,955,715 (GRCm39) |
C26R |
probably damaging |
Het |
Fam83h |
A |
G |
15: 75,875,478 (GRCm39) |
S620P |
probably benign |
Het |
Fcna |
A |
G |
2: 25,515,071 (GRCm39) |
S263P |
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,419,685 (GRCm39) |
S165R |
probably damaging |
Het |
Fpr-rs3 |
T |
C |
17: 20,844,410 (GRCm39) |
T244A |
probably benign |
Het |
Gpr152 |
T |
C |
19: 4,193,541 (GRCm39) |
S361P |
possibly damaging |
Het |
Grm5 |
A |
T |
7: 87,252,175 (GRCm39) |
I142L |
probably damaging |
Het |
Gucy2g |
A |
G |
19: 55,226,230 (GRCm39) |
S229P |
probably benign |
Het |
Htr7 |
C |
T |
19: 35,946,886 (GRCm39) |
G376D |
probably damaging |
Het |
Irgc |
T |
C |
7: 24,131,896 (GRCm39) |
D307G |
probably benign |
Het |
Irs1 |
A |
T |
1: 82,266,381 (GRCm39) |
S612T |
probably benign |
Het |
Maml2 |
C |
T |
9: 13,531,890 (GRCm39) |
T368I |
probably damaging |
Het |
Mapkapk2 |
A |
G |
1: 131,025,072 (GRCm39) |
V64A |
probably damaging |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Nptx1 |
C |
T |
11: 119,433,367 (GRCm39) |
E411K |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or5ak25 |
C |
A |
2: 85,268,581 (GRCm39) |
R307M |
possibly damaging |
Het |
Pcgf5 |
A |
T |
19: 36,389,590 (GRCm39) |
K22N |
possibly damaging |
Het |
Psmd9 |
C |
A |
5: 123,372,712 (GRCm39) |
A65E |
possibly damaging |
Het |
Sh3bp1 |
A |
G |
15: 78,795,907 (GRCm39) |
T679A |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,174,436 (GRCm39) |
P1281S |
possibly damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc25a24 |
A |
G |
3: 109,064,316 (GRCm39) |
M222V |
probably benign |
Het |
Smg9 |
T |
C |
7: 24,120,313 (GRCm39) |
F429S |
possibly damaging |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Sorl1 |
T |
A |
9: 41,993,250 (GRCm39) |
Y258F |
probably damaging |
Het |
Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
Stc1 |
A |
T |
14: 69,275,867 (GRCm39) |
Q220L |
probably damaging |
Het |
Tas2r122 |
T |
C |
6: 132,688,795 (GRCm39) |
T33A |
possibly damaging |
Het |
Tbc1d10b |
A |
G |
7: 126,798,206 (GRCm39) |
L645P |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,665,619 (GRCm39) |
F47S |
probably benign |
Het |
Timd4 |
T |
A |
11: 46,727,898 (GRCm39) |
H272Q |
probably benign |
Het |
Ttll5 |
T |
G |
12: 85,923,368 (GRCm39) |
|
probably null |
Het |
Veph1 |
G |
T |
3: 65,964,680 (GRCm39) |
S783Y |
probably damaging |
Het |
Vmn1r230 |
T |
C |
17: 21,067,078 (GRCm39) |
L89S |
possibly damaging |
Het |
Xcr1 |
A |
G |
9: 123,685,219 (GRCm39) |
V165A |
possibly damaging |
Het |
Zfp286 |
T |
C |
11: 62,675,788 (GRCm39) |
D58G |
probably damaging |
Het |
Zfyve26 |
C |
T |
12: 79,323,055 (GRCm39) |
R897H |
probably 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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGCTCCTGAAAAGCCCCTATCTC -3'
(R):5'- CCTCGCAGCGCAAACATTAGAGTAG -3'
Sequencing Primer
(F):5'- CTCCCCCACGCCTGATG -3'
(R):5'- TGCTCAGGTGTTAGCCAAAC -3'
|
Posted On |
2013-04-16 |