Incidental Mutation 'IGL02741:Swap70'
| ID |
305895 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Swap70
|
| Ensembl Gene |
ENSMUSG00000031015 |
| Gene Name |
SWA-70 protein |
| Synonyms |
70kDa |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
IGL02741
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
109820918-109882713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 109873856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 401
(M401I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033325]
|
| AlphaFold |
Q6A028 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033325
AA Change: M401I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000033325
Gene: ENSMUSG00000031015
AA Change: M401I
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
T |
C |
2: 18,032,007 (GRCm39) |
Y37C |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,759,945 (GRCm39) |
C599S |
probably benign |
Het |
| Bcl6b |
C |
A |
11: 70,119,942 (GRCm39) |
R15L |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,406,530 (GRCm39) |
D2262N |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,604,553 (GRCm39) |
M1007V |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,959,152 (GRCm39) |
K1032R |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,839,230 (GRCm39) |
M1583K |
probably benign |
Het |
| Gjc3 |
A |
T |
5: 137,955,726 (GRCm39) |
C186* |
probably null |
Het |
| Gm14496 |
A |
G |
2: 181,633,136 (GRCm39) |
R40G |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,608,665 (GRCm39) |
R416G |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,355,294 (GRCm39) |
F385L |
probably damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,341,700 (GRCm39) |
S304P |
probably damaging |
Het |
| Mbd6 |
A |
G |
10: 127,123,263 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
T |
C |
15: 4,935,114 (GRCm39) |
F183S |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,312,316 (GRCm39) |
T334S |
probably damaging |
Het |
| Pigw |
C |
T |
11: 84,769,192 (GRCm39) |
V46I |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,701,631 (GRCm39) |
E1435G |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,290,253 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,570,590 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,051,521 (GRCm39) |
I247N |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,822,471 (GRCm39) |
Q923R |
possibly damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rps6ka2 |
T |
A |
17: 7,563,415 (GRCm39) |
F608I |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,150,707 (GRCm39) |
|
probably null |
Het |
| Slc6a20b |
C |
T |
9: 123,436,667 (GRCm39) |
V249M |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,401,961 (GRCm39) |
I783V |
possibly damaging |
Het |
| Tmco4 |
A |
T |
4: 138,757,188 (GRCm39) |
I407F |
probably damaging |
Het |
| Trpm4 |
T |
A |
7: 44,967,912 (GRCm39) |
S340C |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,848,943 (GRCm39) |
E79G |
probably damaging |
Het |
| Ubr1 |
A |
C |
2: 120,771,572 (GRCm39) |
S439A |
probably benign |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,710 (GRCm39) |
V176A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,568,077 (GRCm39) |
D67N |
probably benign |
Het |
| Wasf1 |
C |
T |
10: 40,806,705 (GRCm39) |
T116M |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,164 (GRCm39) |
M241K |
probably benign |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation