Incidental Mutation 'R0041:Swap70'
ID |
18567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Swap70
|
Ensembl Gene |
ENSMUSG00000031015 |
Gene Name |
SWA-70 protein |
Synonyms |
70kDa |
MMRRC Submission |
038335-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
R0041 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109820918-109882713 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109878562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 511
(K511E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033325]
|
AlphaFold |
Q6A028 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033325
AA Change: K511E
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000033325 Gene: ENSMUSG00000031015 AA Change: K511E
Domain | Start | End | E-Value | Type |
PH
|
211 |
308 |
7.23e-20 |
SMART |
coiled coil region
|
316 |
529 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210796
|
Meta Mutation Damage Score |
0.0702 |
Coding Region Coverage |
- 1x: 77.6%
- 3x: 65.6%
- 10x: 37.8%
- 20x: 19.1%
|
Validation Efficiency |
90% (47/52) |
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in increased sensitivity of B lymphocytes to gamma-radiation, increased autoantibody levels, and lower IgE levels, both before and after immunization. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
Dlk1 |
G |
C |
12: 109,421,439 (GRCm39) |
G50A |
probably damaging |
Het |
Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
Gigyf2 |
A |
C |
1: 87,306,698 (GRCm39) |
R129S |
probably damaging |
Het |
Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
Lrrc7 |
G |
A |
3: 157,869,897 (GRCm39) |
|
probably benign |
Het |
Msto1 |
A |
G |
3: 88,817,542 (GRCm39) |
S464P |
probably damaging |
Het |
Myh1 |
A |
C |
11: 67,099,904 (GRCm39) |
N605H |
possibly damaging |
Het |
Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
Plekhg1 |
T |
A |
10: 3,914,074 (GRCm39) |
N1265K |
probably benign |
Het |
Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
Slco1a1 |
A |
G |
6: 141,864,185 (GRCm39) |
|
probably benign |
Het |
Synb |
T |
C |
14: 69,747,926 (GRCm39) |
T193A |
probably damaging |
Het |
Syt11 |
A |
G |
3: 88,655,210 (GRCm39) |
Y364H |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,810,104 (GRCm39) |
H3229L |
probably damaging |
Het |
Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
Het |
Zfp1001 |
A |
G |
2: 150,165,745 (GRCm39) |
I42V |
possibly damaging |
Het |
|
Other mutations in Swap70 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01888:Swap70
|
APN |
7 |
109,879,841 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02307:Swap70
|
APN |
7 |
109,880,501 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02429:Swap70
|
APN |
7 |
109,863,179 (GRCm39) |
missense |
probably benign |
|
IGL02741:Swap70
|
APN |
7 |
109,873,856 (GRCm39) |
missense |
probably benign |
0.01 |
galloping
|
UTSW |
7 |
109,869,126 (GRCm39) |
missense |
probably benign |
|
R0037:Swap70
|
UTSW |
7 |
109,863,287 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0041:Swap70
|
UTSW |
7 |
109,878,562 (GRCm39) |
missense |
probably benign |
0.04 |
R0116:Swap70
|
UTSW |
7 |
109,872,489 (GRCm39) |
missense |
probably benign |
0.25 |
R1615:Swap70
|
UTSW |
7 |
109,872,498 (GRCm39) |
missense |
probably benign |
0.01 |
R1623:Swap70
|
UTSW |
7 |
109,863,255 (GRCm39) |
missense |
probably benign |
0.00 |
R1656:Swap70
|
UTSW |
7 |
109,821,034 (GRCm39) |
missense |
probably benign |
0.02 |
R1932:Swap70
|
UTSW |
7 |
109,878,470 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3720:Swap70
|
UTSW |
7 |
109,869,254 (GRCm39) |
missense |
probably damaging |
0.98 |
R3753:Swap70
|
UTSW |
7 |
109,867,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R4012:Swap70
|
UTSW |
7 |
109,880,512 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4623:Swap70
|
UTSW |
7 |
109,867,079 (GRCm39) |
missense |
probably benign |
0.42 |
R6158:Swap70
|
UTSW |
7 |
109,869,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Swap70
|
UTSW |
7 |
109,869,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R6521:Swap70
|
UTSW |
7 |
109,855,027 (GRCm39) |
missense |
probably benign |
0.00 |
R6692:Swap70
|
UTSW |
7 |
109,869,126 (GRCm39) |
missense |
probably benign |
|
R6823:Swap70
|
UTSW |
7 |
109,880,510 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6846:Swap70
|
UTSW |
7 |
109,854,956 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7417:Swap70
|
UTSW |
7 |
109,863,316 (GRCm39) |
critical splice donor site |
probably null |
|
R7466:Swap70
|
UTSW |
7 |
109,873,979 (GRCm39) |
missense |
probably benign |
0.19 |
R7893:Swap70
|
UTSW |
7 |
109,821,082 (GRCm39) |
missense |
probably benign |
0.00 |
R8132:Swap70
|
UTSW |
7 |
109,855,084 (GRCm39) |
missense |
probably damaging |
0.99 |
R8351:Swap70
|
UTSW |
7 |
109,821,105 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9392:Swap70
|
UTSW |
7 |
109,865,191 (GRCm39) |
critical splice donor site |
probably null |
|
R9703:Swap70
|
UTSW |
7 |
109,872,512 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Swap70
|
UTSW |
7 |
109,872,488 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Posted On |
2013-03-25 |