Incidental Mutation 'R3720:Swap70'
| ID |
258856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Swap70
|
| Ensembl Gene |
ENSMUSG00000031015 |
| Gene Name |
SWA-70 protein |
| Synonyms |
70kDa |
| MMRRC Submission |
040711-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R3720 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109820918-109882713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109869254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 349
(E349G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033325]
|
| AlphaFold |
Q6A028 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033325
AA Change: E349G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033325
Gene: ENSMUSG00000031015
AA Change: E349G
| 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: ENSMUST00000210513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210743
|
| Meta Mutation Damage Score |
0.2435 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
93% (40/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl1 |
G |
A |
14: 26,649,801 (GRCm39) |
T575M |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,300,175 (GRCm39) |
M708K |
probably damaging |
Het |
| C9 |
A |
G |
15: 6,512,600 (GRCm39) |
T241A |
possibly damaging |
Het |
| Ccrl2 |
T |
C |
9: 110,885,432 (GRCm39) |
D22G |
probably benign |
Het |
| Cd47 |
A |
G |
16: 49,688,205 (GRCm39) |
I42V |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,637,197 (GRCm39) |
S1025P |
probably benign |
Het |
| Col8a1 |
T |
C |
16: 57,447,279 (GRCm39) |
M744V |
unknown |
Het |
| Cstf3 |
A |
G |
2: 104,483,431 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,378,037 (GRCm39) |
S410P |
probably damaging |
Het |
| Glt6d1 |
ACCC |
ACCCC |
2: 25,685,179 (GRCm39) |
|
probably null |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,312,077 (GRCm39) |
T1439I |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,805,036 (GRCm39) |
|
probably null |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,118 (GRCm39) |
C572* |
probably null |
Het |
| Kif1c |
T |
C |
11: 70,594,597 (GRCm39) |
F86L |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Ldb1 |
C |
T |
19: 46,033,331 (GRCm39) |
|
probably benign |
Het |
| Lrmda |
T |
A |
14: 22,077,399 (GRCm39) |
|
probably benign |
Het |
| Med23 |
T |
C |
10: 24,767,018 (GRCm39) |
L369S |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
| Myo1b |
G |
T |
1: 51,815,505 (GRCm39) |
H614N |
possibly damaging |
Het |
| Neurl1b |
C |
T |
17: 26,633,949 (GRCm39) |
T4M |
probably damaging |
Het |
| Or10al7 |
T |
C |
17: 38,366,259 (GRCm39) |
Y66C |
probably damaging |
Het |
| Or5t15 |
T |
C |
2: 86,681,935 (GRCm39) |
T36A |
probably benign |
Het |
| Polg |
G |
A |
7: 79,106,539 (GRCm39) |
Q163* |
probably null |
Het |
| Pramel12 |
A |
G |
4: 143,145,949 (GRCm39) |
T473A |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,691,070 (GRCm39) |
P1835L |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,967,685 (GRCm39) |
I138N |
probably damaging |
Het |
| Snx31 |
T |
C |
15: 36,523,704 (GRCm39) |
|
probably null |
Het |
| Speg |
A |
T |
1: 75,403,426 (GRCm39) |
H2590L |
probably damaging |
Het |
| Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,536,028 (GRCm39) |
V766A |
possibly damaging |
Het |
| Tns3 |
G |
A |
11: 8,442,999 (GRCm39) |
R455W |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,931,938 (GRCm39) |
V2157E |
possibly damaging |
Het |
| Trak2 |
A |
T |
1: 58,985,404 (GRCm39) |
|
probably null |
Het |
| Trav18 |
C |
T |
14: 54,069,074 (GRCm39) |
R39C |
possibly damaging |
Het |
| Uroc1 |
G |
A |
6: 90,323,337 (GRCm39) |
V352M |
probably damaging |
Het |
| Zfp106 |
A |
C |
2: 120,365,080 (GRCm39) |
I442M |
probably benign |
Het |
| Zfp935 |
G |
A |
13: 62,602,846 (GRCm39) |
Q98* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGACTGGTGTTACATATTATTCGAG -3'
(R):5'- AAAGCTCCTGAGGCTGTGTG -3'
Sequencing Primer
(F):5'- ATGTTGTAATTCCTGTTCTTTCTCC -3'
(R):5'- CTGTGTGTGGCTTGGGTAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation