Incidental Mutation 'R8351:Swap70'
| ID |
660487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Swap70
|
| Ensembl Gene |
ENSMUSG00000031015 |
| Gene Name |
SWA-70 protein |
| Synonyms |
70kDa |
| MMRRC Submission |
067804-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R8351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109820918-109882713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109821105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 30
(S30P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033325]
|
| AlphaFold |
Q6A028 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033325
AA Change: S30P
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000033325
Gene: ENSMUSG00000031015
AA Change: S30P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
211 |
308 |
7.23e-20 |
SMART |
|
coiled coil region
|
316 |
529 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (41/41) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat3 |
A |
T |
10: 78,110,086 (GRCm39) |
Y288N |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,203,626 (GRCm39) |
K225E |
probably benign |
Het |
| Apob |
A |
G |
12: 8,056,356 (GRCm39) |
T1613A |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,725,693 (GRCm39) |
T2139A |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,386,172 (GRCm39) |
|
probably null |
Het |
| Atp23 |
C |
T |
10: 126,723,407 (GRCm39) |
A232T |
probably damaging |
Het |
| Cd8b1 |
G |
A |
6: 71,306,777 (GRCm39) |
|
probably null |
Het |
| Cep295 |
G |
A |
9: 15,234,202 (GRCm39) |
T2198I |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,588,694 (GRCm39) |
N1140K |
probably damaging |
Het |
| Cyp2f2 |
A |
G |
7: 26,821,294 (GRCm39) |
Y69C |
probably damaging |
Het |
| Ep400 |
C |
T |
5: 110,887,200 (GRCm39) |
A628T |
probably damaging |
Het |
| Faxc |
A |
T |
4: 21,932,046 (GRCm39) |
|
probably null |
Het |
| Fpr3 |
T |
C |
17: 18,191,436 (GRCm39) |
S236P |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,822,239 (GRCm39) |
S5991P |
possibly damaging |
Het |
| Gm3099 |
A |
T |
14: 15,345,347 (GRCm39) |
N58Y |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
| Gnptab |
T |
G |
10: 88,250,348 (GRCm39) |
D153E |
probably benign |
Het |
| Kcnh6 |
A |
G |
11: 105,911,062 (GRCm39) |
H486R |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,673,670 (GRCm39) |
Y2571H |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,837,401 (GRCm39) |
V995M |
probably damaging |
Het |
| Lrrc43 |
A |
G |
5: 123,632,328 (GRCm39) |
N157S |
probably damaging |
Het |
| Mbtps1 |
G |
A |
8: 120,272,923 (GRCm39) |
S74L |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,571,181 (GRCm39) |
V446D |
unknown |
Het |
| Ncapg2 |
T |
C |
12: 116,403,647 (GRCm39) |
V853A |
possibly damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,476 (GRCm39) |
S76P |
probably benign |
Het |
| Nuak1 |
T |
C |
10: 84,229,981 (GRCm39) |
I131V |
probably damaging |
Het |
| Nup50l |
A |
C |
6: 96,142,655 (GRCm39) |
S130A |
probably benign |
Het |
| Oas1e |
A |
T |
5: 120,925,008 (GRCm39) |
|
probably null |
Het |
| Or1n2 |
T |
C |
2: 36,797,149 (GRCm39) |
F64L |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,542,128 (GRCm39) |
|
probably null |
Het |
| Plin4 |
T |
C |
17: 56,413,861 (GRCm39) |
T255A |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,438,117 (GRCm39) |
T141A |
possibly damaging |
Het |
| Rps2 |
T |
A |
17: 24,939,334 (GRCm39) |
|
probably benign |
Het |
| Rptor |
A |
G |
11: 119,783,465 (GRCm39) |
D1153G |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,814,718 (GRCm39) |
F685L |
probably damaging |
Het |
| Slc22a17 |
A |
G |
14: 55,146,051 (GRCm39) |
I356T |
probably benign |
Het |
| Slc29a4 |
T |
G |
5: 142,703,584 (GRCm39) |
I286S |
probably benign |
Het |
| Tbc1d10c |
A |
G |
19: 4,234,744 (GRCm39) |
F439S |
probably damaging |
Het |
| Tbx3 |
T |
A |
5: 119,818,841 (GRCm39) |
L472Q |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 39,004,850 (GRCm39) |
R366G |
possibly damaging |
Het |
| Ttll8 |
T |
C |
15: 88,798,638 (GRCm39) |
D699G |
probably benign |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,597 (GRCm39) |
R100S |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,698,931 (GRCm39) |
D570G |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,575 (GRCm39) |
S450P |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAAGGACTTTGCGTGTTG -3'
(R):5'- ACTCTGCAAAAGCAATGGCC -3'
Sequencing Primer
(F):5'- CACAAGGACTTTGCGTGTTGTTTAC -3'
(R):5'- TTTGCAGGGAGCCCGTAAGAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation