Incidental Mutation 'R6692:Swap70'
| ID |
527915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Swap70
|
| Ensembl Gene |
ENSMUSG00000031015 |
| Gene Name |
SWA-70 protein |
| Synonyms |
70kDa |
| MMRRC Submission |
044810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R6692 (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 A
at 109869126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 306
(H306Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033325]
|
| AlphaFold |
Q6A028 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033325
AA Change: H306Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033325
Gene: ENSMUSG00000031015
AA Change: H306Q
| 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 |
0.0612 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (38/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl1 |
C |
T |
3: 107,582,401 (GRCm39) |
G54D |
probably damaging |
Het |
| Aldh1b1 |
T |
C |
4: 45,803,427 (GRCm39) |
C322R |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,363,377 (GRCm39) |
I258V |
probably damaging |
Het |
| Cenph |
T |
C |
13: 100,909,243 (GRCm39) |
I55V |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,405,006 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
G |
8: 105,563,919 (GRCm39) |
Y431C |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,950 (GRCm39) |
S28P |
possibly damaging |
Het |
| Cyp4f40 |
C |
G |
17: 32,894,716 (GRCm39) |
T427S |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,119,490 (GRCm39) |
I137T |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,384,335 (GRCm39) |
D168E |
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,072,696 (GRCm39) |
L376H |
probably damaging |
Het |
| Kdm4d |
A |
T |
9: 14,374,361 (GRCm39) |
M499K |
probably benign |
Het |
| Lonp1 |
C |
T |
17: 56,926,230 (GRCm39) |
V426M |
probably damaging |
Het |
| Lypla2 |
C |
A |
4: 135,698,173 (GRCm39) |
A26S |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,723,987 (GRCm39) |
V323A |
possibly damaging |
Het |
| Mdfic2 |
T |
G |
6: 98,225,169 (GRCm39) |
H38P |
possibly damaging |
Het |
| Mov10 |
A |
G |
3: 104,725,360 (GRCm39) |
L83P |
probably damaging |
Het |
| Mphosph9 |
G |
T |
5: 124,398,179 (GRCm39) |
A1039D |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
| Or10ag55-ps1 |
A |
G |
2: 87,139,336 (GRCm39) |
T68A |
possibly damaging |
Het |
| Pde3a |
T |
A |
6: 141,425,072 (GRCm39) |
S623T |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,095,348 (GRCm39) |
M227K |
probably benign |
Het |
| Rell1 |
T |
G |
5: 64,095,210 (GRCm39) |
K85N |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,165,652 (GRCm39) |
T93A |
probably damaging |
Het |
| Sccpdh |
T |
A |
1: 179,511,792 (GRCm39) |
M88K |
possibly damaging |
Het |
| Siae |
T |
G |
9: 37,554,095 (GRCm39) |
|
probably null |
Het |
| Slc22a16 |
G |
A |
10: 40,479,901 (GRCm39) |
E637K |
unknown |
Het |
| Stk19 |
C |
T |
17: 35,043,770 (GRCm39) |
G95S |
probably benign |
Het |
| Stpg2 |
G |
A |
3: 139,228,738 (GRCm39) |
|
probably null |
Het |
| Sult2a5 |
T |
A |
7: 13,358,057 (GRCm39) |
F30I |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,082,853 (GRCm39) |
E748G |
probably damaging |
Het |
| Try10 |
G |
A |
6: 41,334,755 (GRCm39) |
G227D |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,726,713 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,749,436 (GRCm39) |
H3871L |
probably benign |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,745 (GRCm39) |
I57V |
possibly damaging |
Het |
| Vpreb1a |
A |
G |
16: 16,686,666 (GRCm39) |
S75P |
probably damaging |
Het |
| Zkscan5 |
A |
G |
5: 145,157,894 (GRCm39) |
|
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 |
|
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 |
|
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'- TGTGGACCTGGACTCAGAAAAG -3'
(R):5'- AAAGCTCCTGAGGCTGTGTG -3'
Sequencing Primer
(F):5'- AGACTTGAACGCACATCTTTCTCATG -3'
(R):5'- GACAGCGCTTCCCTTGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation