Incidental Mutation 'IGL01565:Swsap1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Swsap1
Ensembl Gene ENSMUSG00000051238
Gene NameSWIM type zinc finger 7 associated protein 1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01565
Quality Score
Chromosomal Location21955755-21958264 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21957228 bp
Amino Acid Change Aspartic acid to Glutamic Acid at position 265 (D265E)
Ref Sequence ENSEMBL: ENSMUSP00000060331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006397] [ENSMUST00000053583] [ENSMUST00000213181]
Predicted Effect probably benign
Transcript: ENSMUST00000006397
SMART Domains Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235

Pfam:EpoR_lig-bind 37 139 9.1e-30 PFAM
FN3 144 227 2.48e-6 SMART
transmembrane domain 250 272 N/A INTRINSIC
low complexity region 434 451 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000053583
AA Change: D265E

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000060331
Gene: ENSMUSG00000051238
AA Change: D265E

low complexity region 21 33 N/A INTRINSIC
low complexity region 40 52 N/A INTRINSIC
Blast:AAA 53 189 3e-34 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000213181
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,603,360 T36A probably damaging Het
Ankrd35 A G 3: 96,684,785 M796V probably damaging Het
Brpf1 A T 6: 113,316,650 Q560L probably damaging Het
Dbil5 T G 11: 76,218,265 probably benign Het
Dnah9 T C 11: 66,033,829 K2200E possibly damaging Het
Gtf2i T C 5: 134,255,913 I471V probably damaging Het
Has3 T A 8: 106,874,445 W180R probably benign Het
Lrfn1 T C 7: 28,458,769 C38R probably damaging Het
Lrsam1 C T 2: 32,936,495 A455T probably damaging Het
Mettl2 C A 11: 105,126,538 D14E probably benign Het
Mocs1 G A 17: 49,452,320 R364Q probably benign Het
Ndst2 A T 14: 20,728,206 V435E probably damaging Het
Pi4ka A T 16: 17,389,442 probably benign Het
Pigr A C 1: 130,844,474 D143A possibly damaging Het
Polq A C 16: 37,013,113 N56T probably benign Het
Prmt7 T G 8: 106,250,409 D584E probably damaging Het
R3hdm1 A T 1: 128,186,816 Q511H probably damaging Het
Rbm33 T C 5: 28,391,079 probably benign Het
Rdh19 T G 10: 127,859,595 M226R probably benign Het
Rock2 G A 12: 16,953,317 D386N possibly damaging Het
Slc7a2 A G 8: 40,899,238 T96A possibly damaging Het
Spata2 A G 2: 167,484,294 S202P probably damaging Het
Tdrd3 A T 14: 87,472,232 I117L probably benign Het
Ticrr A G 7: 79,694,548 D1387G probably benign Het
Tnfaip6 A G 2: 52,055,834 S231G probably damaging Het
Trim50 T A 5: 135,367,501 D434E probably benign Het
Tyw5 T C 1: 57,394,081 Y105C probably damaging Het
Usp50 G T 2: 126,777,968 C141* probably null Het
Zfp647 A T 15: 76,911,670 C263* probably null Het
Other mutations in Swsap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0012:Swsap1 UTSW 9 21957022 missense probably benign 0.12
R1341:Swsap1 UTSW 9 21957154 missense probably benign 0.18
R1758:Swsap1 UTSW 9 21955984 nonsense probably null
R1905:Swsap1 UTSW 9 21956692 missense probably damaging 1.00
R4825:Swsap1 UTSW 9 21955988 missense probably benign 0.32
R5597:Swsap1 UTSW 9 21955946 missense probably damaging 1.00
R6695:Swsap1 UTSW 9 21956675 critical splice acceptor site probably null
Posted On2013-12-09