Incidental Mutation 'R3753:Swap70'
ID |
271315 |
Institutional Source |
Beutler Lab
|
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 # |
R3753 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109820918-109882713 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109867088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 297
(W297R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033325]
|
AlphaFold |
Q6A028 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033325
AA Change: W297R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033325 Gene: ENSMUSG00000031015 AA Change: W297R
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 |
0.9750 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
98% (49/50) |
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 |
1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
Acp7 |
T |
A |
7: 28,316,085 (GRCm39) |
Y167F |
probably damaging |
Het |
Acsl1 |
A |
T |
8: 46,966,602 (GRCm39) |
|
probably benign |
Het |
Bcr |
T |
C |
10: 74,971,772 (GRCm39) |
V599A |
probably benign |
Het |
Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
Cep152 |
A |
G |
2: 125,466,972 (GRCm39) |
|
probably benign |
Het |
Cstf2t |
T |
G |
19: 31,060,695 (GRCm39) |
L77R |
probably damaging |
Het |
Drd3 |
C |
T |
16: 43,637,466 (GRCm39) |
R254W |
probably damaging |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Fam187a |
C |
T |
11: 102,776,675 (GRCm39) |
P160S |
probably benign |
Het |
Fat1 |
G |
A |
8: 45,478,516 (GRCm39) |
E2521K |
probably damaging |
Het |
Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
Flii |
T |
C |
11: 60,606,306 (GRCm39) |
D1128G |
probably benign |
Het |
Gask1a |
A |
T |
9: 121,794,899 (GRCm39) |
D351V |
probably damaging |
Het |
Gata3 |
T |
A |
2: 9,873,651 (GRCm39) |
H281L |
probably benign |
Het |
Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
Nbn |
G |
A |
4: 15,964,269 (GRCm39) |
V115I |
probably damaging |
Het |
Nfyc |
G |
T |
4: 120,622,527 (GRCm39) |
|
probably benign |
Het |
Nup210 |
A |
T |
6: 90,998,377 (GRCm39) |
|
probably null |
Het |
Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
Or2t48 |
C |
T |
11: 58,420,516 (GRCm39) |
A99T |
probably benign |
Het |
Or8j3b |
C |
T |
2: 86,205,259 (GRCm39) |
V166I |
possibly damaging |
Het |
Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
Plce1 |
T |
C |
19: 38,640,278 (GRCm39) |
V508A |
probably benign |
Het |
Prmt2 |
G |
T |
10: 76,061,137 (GRCm39) |
D116E |
probably benign |
Het |
Prss51 |
T |
A |
14: 64,333,624 (GRCm39) |
|
probably benign |
Het |
Prune2 |
T |
A |
19: 17,102,818 (GRCm39) |
V2659D |
probably benign |
Het |
Ptpn3 |
C |
T |
4: 57,270,144 (GRCm39) |
R6H |
probably damaging |
Het |
Ramac |
C |
T |
7: 81,417,395 (GRCm39) |
R32C |
probably damaging |
Het |
Rdh12 |
C |
T |
12: 79,260,446 (GRCm39) |
R181* |
probably null |
Het |
Rsf1 |
T |
A |
7: 97,311,359 (GRCm39) |
D696E |
probably benign |
Het |
Sh3rf2 |
C |
T |
18: 42,244,373 (GRCm39) |
R280C |
probably damaging |
Het |
Slco6d1 |
T |
A |
1: 98,427,502 (GRCm39) |
I611K |
probably damaging |
Het |
Snph |
G |
A |
2: 151,435,374 (GRCm39) |
P449L |
probably benign |
Het |
Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
Tcstv2c |
A |
T |
13: 120,616,167 (GRCm39) |
D2V |
possibly damaging |
Het |
Tox2 |
T |
A |
2: 163,156,243 (GRCm39) |
I138N |
probably damaging |
Het |
Trim54 |
A |
C |
5: 31,291,488 (GRCm39) |
E203A |
probably damaging |
Het |
Vmn2r19 |
A |
T |
6: 123,292,548 (GRCm39) |
T197S |
possibly damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
Wdr19 |
G |
A |
5: 65,382,069 (GRCm39) |
V430M |
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 |
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'- CTGAGTTTCAGTTAGACTTACATGTTA -3'
(R):5'- ACAAAGTTGGAGCACTCACG -3'
Sequencing Primer
(F):5'- CCTGTAATCCCAGCATTTAGGAGG -3'
(R):5'- AAAGTTGGAGCACTCACGGTTTTG -3'
|
Posted On |
2015-03-18 |