Incidental Mutation 'R9436:Add1'
| ID |
713273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Add1
|
| Ensembl Gene |
ENSMUSG00000029106 |
| Gene Name |
adducin 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R9436 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
34731008-34789652 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 34763273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 154
(R154*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001108]
[ENSMUST00000052836]
[ENSMUST00000114335]
[ENSMUST00000114338]
[ENSMUST00000114340]
[ENSMUST00000146295]
[ENSMUST00000147574]
|
| AlphaFold |
Q9QYC0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001108
AA Change: R154*
|
| SMART Domains |
Protein: ENSMUSP00000001108
Gene: ENSMUSG00000029106
AA Change: R154*
| 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: R154*
|
| SMART Domains |
Protein: ENSMUSP00000052266
Gene: ENSMUSG00000029106
AA Change: R154*
| 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: R154*
|
| SMART Domains |
Protein: ENSMUSP00000109974
Gene: ENSMUSG00000029106
AA Change: R154*
| 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: R154*
|
| SMART Domains |
Protein: ENSMUSP00000109977
Gene: ENSMUSG00000029106
AA Change: R154*
| 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: R154*
|
| SMART Domains |
Protein: ENSMUSP00000109979
Gene: ENSMUSG00000029106
AA Change: R154*
| 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: ENSMUST00000146295
|
| SMART Domains |
Protein: ENSMUSP00000118539
Gene: ENSMUSG00000029106
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Blast:Aldolase_II
|
102 |
140 |
1e-19 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147574
|
| SMART Domains |
Protein: ENSMUSP00000116075
Gene: ENSMUSG00000029106
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Blast:Aldolase_II
|
102 |
140 |
1e-19 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
G |
19: 31,909,975 (GRCm39) |
T340A |
probably benign |
Het |
| Adamts2 |
G |
T |
11: 50,694,507 (GRCm39) |
R1098L |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,478,924 (GRCm39) |
V41A |
|
Het |
| Anapc1 |
T |
C |
2: 128,518,045 (GRCm39) |
T270A |
probably benign |
Het |
| Ankhd1 |
C |
A |
18: 36,694,041 (GRCm39) |
A84D |
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,774,654 (GRCm39) |
C1412S |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Chrm5 |
T |
C |
2: 112,309,824 (GRCm39) |
R431G |
possibly damaging |
Het |
| Clxn |
T |
A |
16: 14,735,541 (GRCm39) |
C84* |
probably null |
Het |
| Dnah14 |
A |
C |
1: 181,508,348 (GRCm39) |
E1842A |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,582,975 (GRCm39) |
L386P |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,538,507 (GRCm39) |
Q393* |
probably null |
Het |
| Hinfp |
A |
T |
9: 44,209,276 (GRCm39) |
Y308N |
probably damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,854,627 (GRCm39) |
R55* |
probably null |
Het |
| Ifi44 |
T |
C |
3: 151,454,886 (GRCm39) |
D113G |
probably benign |
Het |
| Katnal1 |
A |
T |
5: 148,815,761 (GRCm39) |
L392H |
probably damaging |
Het |
| Kcnk12 |
C |
A |
17: 88,104,880 (GRCm39) |
M1I |
probably null |
Het |
| Krt17 |
T |
A |
11: 100,148,325 (GRCm39) |
D372V |
probably damaging |
Het |
| Mrtfb |
T |
A |
16: 13,223,151 (GRCm39) |
Y796* |
probably null |
Het |
| Myo3a |
T |
A |
2: 22,412,235 (GRCm39) |
Y751* |
probably null |
Het |
| Ndrg3 |
C |
A |
2: 156,782,276 (GRCm39) |
|
probably null |
Het |
| Nfkbib |
C |
A |
7: 28,465,800 (GRCm39) |
W16C |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,781,106 (GRCm39) |
V101A |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,133,483 (GRCm39) |
S437P |
probably damaging |
Het |
| Or6c75 |
T |
C |
10: 129,336,969 (GRCm39) |
F64S |
probably damaging |
Het |
| Pcdhga3 |
G |
A |
18: 37,808,144 (GRCm39) |
R199H |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,125,670 (GRCm39) |
H1155L |
|
Het |
| Rbp3 |
A |
G |
14: 33,677,234 (GRCm39) |
D394G |
possibly damaging |
Het |
| Rnmt |
T |
A |
18: 68,442,410 (GRCm39) |
V180E |
probably damaging |
Het |
| Rpl3l |
A |
T |
17: 24,947,300 (GRCm39) |
K5* |
probably null |
Het |
| Rps6ka1 |
A |
T |
4: 133,575,963 (GRCm39) |
V652E |
probably damaging |
Het |
| Slc7a1 |
A |
T |
5: 148,270,730 (GRCm39) |
W579R |
probably damaging |
Het |
| Smr2l |
A |
G |
5: 88,430,257 (GRCm39) |
D51G |
possibly damaging |
Het |
| Smyd4 |
T |
A |
11: 75,293,017 (GRCm39) |
L649Q |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,374,602 (GRCm39) |
R954G |
possibly damaging |
Het |
| Sp4 |
T |
C |
12: 118,202,000 (GRCm39) |
E744G |
possibly damaging |
Het |
| Spag16 |
C |
T |
1: 69,892,539 (GRCm39) |
L107F |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,650,272 (GRCm39) |
D268G |
probably benign |
Het |
| Tat |
G |
T |
8: 110,718,492 (GRCm39) |
G85W |
probably damaging |
Het |
| Tchp |
G |
T |
5: 114,847,446 (GRCm39) |
E88D |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,775,633 (GRCm39) |
N369S |
possibly damaging |
Het |
| Tmf1 |
T |
C |
6: 97,153,617 (GRCm39) |
D152G |
probably benign |
Het |
| Ttc7 |
T |
C |
17: 87,600,320 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,772,263 (GRCm39) |
I2592M |
unknown |
Het |
| Unc80 |
T |
G |
1: 66,732,964 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,002,826 (GRCm39) |
Y79H |
probably damaging |
Het |
| Whamm |
G |
T |
7: 81,221,063 (GRCm39) |
|
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,133,898 (GRCm39) |
I48M |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,094 (GRCm39) |
F210L |
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 |
|
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 |
|
Z1088:Add1
|
UTSW |
5 |
34,770,744 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGAGAGAACATTGTCTTTCTGTC -3'
(R):5'- CAACCTGAGCTGGAACAAGG -3'
Sequencing Primer
(F):5'- TTGTCTTTCTGTCATTGAAATTTCTG -3'
(R):5'- GGGTCAGGTAGAAAATGTTGTTATTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation