Incidental Mutation 'R9392:Swap70'
ID |
710625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Swap70
|
Ensembl Gene |
ENSMUSG00000031015 |
Gene Name |
SWA-70 protein |
Synonyms |
70kDa |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.224)
|
Stock # |
R9392 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109820918-109882713 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 109865191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033325]
|
AlphaFold |
Q6A028 |
Predicted Effect |
probably null
Transcript: ENSMUST00000033325
|
SMART Domains |
Protein: ENSMUSP00000033325 Gene: ENSMUSG00000031015
Domain | Start | End | E-Value | Type |
PH
|
211 |
308 |
7.23e-20 |
SMART |
coiled coil region
|
316 |
529 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9492 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (27/27) |
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd34c |
A |
G |
9: 89,611,787 (GRCm39) |
C185R |
possibly damaging |
Het |
Apob |
T |
C |
12: 8,057,098 (GRCm39) |
V1860A |
probably benign |
Het |
Bahcc1 |
C |
T |
11: 120,163,513 (GRCm39) |
R604* |
probably null |
Het |
Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
Cdhr4 |
A |
G |
9: 107,873,507 (GRCm39) |
D413G |
probably damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
T |
A |
7: 105,421,869 (GRCm39) |
T184S |
probably benign |
Het |
Dnah11 |
A |
T |
12: 118,011,055 (GRCm39) |
Y2044* |
probably null |
Het |
Dnah11 |
T |
C |
12: 118,141,290 (GRCm39) |
T489A |
probably benign |
Het |
Dnah7b |
C |
T |
1: 46,162,898 (GRCm39) |
Q415* |
probably null |
Het |
Eml5 |
T |
C |
12: 98,867,199 (GRCm39) |
Y30C |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,476,228 (GRCm39) |
Y1758C |
probably damaging |
Het |
Fndc1 |
A |
T |
17: 7,991,957 (GRCm39) |
S580T |
unknown |
Het |
Ift57 |
T |
C |
16: 49,584,174 (GRCm39) |
I394T |
possibly damaging |
Het |
Itpr1 |
T |
A |
6: 108,390,837 (GRCm39) |
S1579T |
probably benign |
Het |
Kcnj14 |
A |
T |
7: 45,467,159 (GRCm39) |
C396S |
probably benign |
Het |
Lig3 |
G |
A |
11: 82,680,666 (GRCm39) |
C413Y |
probably benign |
Het |
Or8b38 |
T |
C |
9: 37,973,195 (GRCm39) |
I193T |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,794,567 (GRCm39) |
T2315A |
|
Het |
Rptn |
A |
T |
3: 93,305,721 (GRCm39) |
H1018L |
probably benign |
Het |
Rsph4a |
G |
A |
10: 33,781,236 (GRCm39) |
V29I |
probably benign |
Het |
Shroom1 |
C |
A |
11: 53,354,674 (GRCm39) |
P198Q |
possibly damaging |
Het |
Sipa1l2 |
A |
G |
8: 126,194,960 (GRCm39) |
V926A |
probably benign |
Het |
Tcerg1l |
A |
G |
7: 137,815,164 (GRCm39) |
V505A |
probably damaging |
Het |
Ubr5 |
A |
G |
15: 37,984,251 (GRCm39) |
S2299P |
|
Het |
Vmn2r25 |
T |
C |
6: 123,816,937 (GRCm39) |
I215V |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,589,718 (GRCm39) |
I733F |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAAGCACACGTGTTACATTTGG -3'
(R):5'- AAGCTCCAGGTCTTTAGTCTATTG -3'
Sequencing Primer
(F):5'- GCACACGTGTTACATTTGGTTTAATG -3'
(R):5'- AAGTACACATTTTGTCAGCTGTC -3'
|
Posted On |
2022-04-18 |