Incidental Mutation 'R6823:Swap70'
ID 537733
Institutional Source Beutler Lab
Gene Symbol Swap70
Ensembl Gene ENSMUSG00000031015
Gene Name SWA-70 protein
Synonyms 70kDa
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.793) question?
Stock # R6823 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 110221711-110283506 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110281303 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 575 (E575G)
Ref Sequence ENSEMBL: ENSMUSP00000033325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033325]
AlphaFold Q6A028
Predicted Effect possibly damaging
Transcript: ENSMUST00000033325
AA Change: E575G

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033325
Gene: ENSMUSG00000031015
AA Change: E575G

DomainStartEndE-ValueType
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: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (81/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,754,886 probably null Het
Adgrv1 A G 13: 81,557,081 F1537L probably damaging Het
Aggf1 T C 13: 95,364,723 S384G probably benign Het
Anxa8 A T 14: 34,094,765 D204V possibly damaging Het
Asap3 A T 4: 136,227,572 E71V possibly damaging Het
BC024139 T C 15: 76,119,746 *773W probably null Het
Bckdhb T C 9: 83,953,761 V106A possibly damaging Het
Cep250 A G 2: 155,981,459 D1010G probably benign Het
Chrd T A 16: 20,734,736 L243Q probably damaging Het
Cib2 G T 9: 54,549,891 L30I possibly damaging Het
Cpsf7 T A 19: 10,532,884 L113* probably null Het
Cubn T A 2: 13,445,029 I895L probably benign Het
Cyp24a1 C A 2: 170,487,979 R351I probably benign Het
Cyp2a12 A T 7: 27,034,156 D320V possibly damaging Het
Dact1 C G 12: 71,317,939 P498R probably benign Het
Diaph1 T A 18: 37,876,383 probably null Het
Dnah7a A T 1: 53,456,704 I3198N probably benign Het
Dopey2 A T 16: 93,755,485 I271F possibly damaging Het
Erich3 C A 3: 154,727,437 F349L probably damaging Het
Fam187b G C 7: 30,989,290 V358L probably benign Het
Fat4 T A 3: 38,983,939 H3913Q probably benign Het
Fbxw7 G C 3: 84,958,627 E118D probably benign Het
Fgf1 A G 18: 38,847,108 I71T probably damaging Het
Fryl A T 5: 73,065,217 I2007K probably damaging Het
Galnt2 C G 8: 124,324,011 P130A probably benign Het
H1fx G A 6: 87,981,302 R19C probably damaging Het
Hmga2 A C 10: 120,476,024 S14A possibly damaging Het
Hoxb4 C T 11: 96,318,654 probably benign Het
Hr A T 14: 70,565,374 I756F probably damaging Het
Hrasls5 A T 19: 7,639,496 probably benign Het
Hspa1b A T 17: 34,958,185 S275T probably benign Het
Ikbkap A G 4: 56,787,939 Y331H probably damaging Het
Kcnh1 T C 1: 192,505,289 *99R probably null Het
Kit C A 5: 75,652,649 L864I probably benign Het
Klk14 A T 7: 43,694,456 K196* probably null Het
Lmod1 A G 1: 135,325,167 N53S probably damaging Het
Myh13 T C 11: 67,356,158 M1235T probably benign Het
Neurl3 T A 1: 36,268,704 K175* probably null Het
Nlgn2 T A 11: 69,825,924 K597M probably damaging Het
Npdc1 T C 2: 25,409,109 M306T probably damaging Het
Obscn C T 11: 59,067,943 probably null Het
Olfr404-ps1 T C 11: 74,239,696 L44P probably damaging Het
Olfr553 G A 7: 102,614,486 L168F probably damaging Het
Olfr913 T C 9: 38,594,905 I228T possibly damaging Het
Pbrm1 A T 14: 31,084,790 Y1042F probably damaging Het
Pclo T A 5: 14,677,907 probably benign Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 probably benign Het
Phf12 C T 11: 78,022,511 Q430* probably null Het
Pld3 C T 7: 27,535,897 R302H probably damaging Het
Plekha5 T C 6: 140,525,858 S112P probably benign Het
Pmfbp1 T A 8: 109,530,307 S548T possibly damaging Het
Ppa1 A T 10: 61,667,603 I220F probably damaging Het
Ppp2r3d A G 9: 124,439,078 probably benign Het
Psmg2 A T 18: 67,648,857 E164D possibly damaging Het
Rarb T C 14: 16,443,824 R155G probably damaging Het
Rnf215 T C 11: 4,136,609 L162S probably damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,579,906 probably benign Het
Rtkn2 G A 10: 68,026,632 V330M probably damaging Het
Slc16a4 A T 3: 107,311,498 I472F probably benign Het
Snx14 T C 9: 88,394,382 N617D possibly damaging Het
Spire2 T C 8: 123,356,727 V150A probably damaging Het
Sptbn1 C A 11: 30,114,787 R1904M probably damaging Het
Tbxas1 A T 6: 38,919,153 M1L possibly damaging Het
Tenm3 A T 8: 48,256,837 V1688D probably damaging Het
Tgfbr3 A T 5: 107,149,914 S207T probably damaging Het
Timm44 A G 8: 4,267,282 F248L probably damaging Het
Tmem161a T C 8: 70,181,199 L170P probably damaging Het
Tmem63a A T 1: 180,960,470 Y263F possibly damaging Het
Tnfsf9 C A 17: 57,105,513 L28I probably benign Het
Tph2 T A 10: 115,174,106 N183I probably benign Het
Ttyh1 T C 7: 4,122,529 I60T probably damaging Het
Ubn1 T G 16: 5,064,547 S48A probably damaging Het
Ubr5 T C 15: 37,989,598 N2019S probably benign Het
Wbp2 T C 11: 116,086,910 N6D probably benign Het
Wdr59 T A 8: 111,459,040 E810V possibly damaging Het
Wiz T C 17: 32,360,421 D220G probably damaging Het
Yipf7 A G 5: 69,517,070 L244P probably damaging Het
Zdhhc17 T C 10: 110,955,111 T366A possibly damaging Het
Zfp169 A T 13: 48,490,996 probably benign Het
Zfp707 C T 15: 75,969,723 probably benign Het
Zfp788 A G 7: 41,649,560 H540R probably damaging Het
Other mutations in Swap70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01888:Swap70 APN 7 110280634 missense probably damaging 1.00
IGL02307:Swap70 APN 7 110281294 missense probably benign 0.05
IGL02429:Swap70 APN 7 110263972 missense probably benign
IGL02741:Swap70 APN 7 110274649 missense probably benign 0.01
galloping UTSW 7 110269919 missense probably benign
R0037:Swap70 UTSW 7 110264080 missense possibly damaging 0.77
R0041:Swap70 UTSW 7 110279355 missense probably benign 0.04
R0041:Swap70 UTSW 7 110279355 missense probably benign 0.04
R0116:Swap70 UTSW 7 110273282 missense probably benign 0.25
R1615:Swap70 UTSW 7 110273291 missense probably benign 0.01
R1623:Swap70 UTSW 7 110264048 missense probably benign 0.00
R1656:Swap70 UTSW 7 110221827 missense probably benign 0.02
R1932:Swap70 UTSW 7 110279263 missense possibly damaging 0.70
R3720:Swap70 UTSW 7 110270047 missense probably damaging 0.98
R3753:Swap70 UTSW 7 110267881 missense probably damaging 1.00
R4012:Swap70 UTSW 7 110281305 missense possibly damaging 0.92
R4623:Swap70 UTSW 7 110267872 missense probably benign 0.42
R6158:Swap70 UTSW 7 110270023 missense probably damaging 1.00
R6180:Swap70 UTSW 7 110269981 missense probably damaging 1.00
R6521:Swap70 UTSW 7 110255820 missense probably benign 0.00
R6692:Swap70 UTSW 7 110269919 missense probably benign
R6846:Swap70 UTSW 7 110255749 missense possibly damaging 0.94
R7417:Swap70 UTSW 7 110264109 critical splice donor site probably null
R7466:Swap70 UTSW 7 110274772 missense probably benign 0.19
R7893:Swap70 UTSW 7 110221875 missense probably benign 0.00
R8132:Swap70 UTSW 7 110255877 missense probably damaging 0.99
R8351:Swap70 UTSW 7 110221898 missense possibly damaging 0.77
R9392:Swap70 UTSW 7 110265984 critical splice donor site probably null
Z1177:Swap70 UTSW 7 110273281 missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TAACCTCCCTGCGTGCATAG -3'
(R):5'- TCTCTAGAAGGTAAACATGGCG -3'

Sequencing Primer
(F):5'- CGGACCTTTTTGGGTATTCCTCAG -3'
(R):5'- TCTAGAAGGTAAACATGGCGTCCTC -3'
Posted On 2018-10-18