Incidental Mutation 'IGL01888:Swap70'
| ID |
179191 |
| 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 # |
IGL01888
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
109820918-109882713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109879841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 541
(H541L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033325]
|
| AlphaFold |
Q6A028 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033325
AA Change: H541L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033325
Gene: ENSMUSG00000031015
AA Change: H541L
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
C |
11: 105,859,770 (GRCm39) |
V101A |
probably benign |
Het |
| Ano5 |
A |
T |
7: 51,216,048 (GRCm39) |
I342F |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 15,012,577 (GRCm39) |
Y300* |
probably null |
Het |
| Caps2 |
A |
G |
10: 112,018,965 (GRCm39) |
D210G |
probably damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,823,610 (GRCm39) |
|
probably benign |
Het |
| Colgalt1 |
T |
A |
8: 72,070,318 (GRCm39) |
M200K |
probably damaging |
Het |
| Dzank1 |
G |
T |
2: 144,318,074 (GRCm39) |
|
probably null |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ist1 |
T |
C |
8: 110,410,400 (GRCm39) |
|
probably benign |
Het |
| Or13d1 |
A |
G |
4: 52,970,974 (GRCm39) |
M118V |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,710,993 (GRCm39) |
Y88N |
probably damaging |
Het |
| Pikfyve |
G |
A |
1: 65,262,799 (GRCm39) |
D497N |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,804,789 (GRCm39) |
V3171A |
possibly damaging |
Het |
| Slc22a18 |
T |
A |
7: 143,033,053 (GRCm39) |
V47D |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Tmx3 |
G |
A |
18: 90,546,045 (GRCm39) |
D209N |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,015,228 (GRCm39) |
H312R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,286 (GRCm39) |
K225* |
probably null |
Het |
|
| Other mutations in Swap70 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation