Incidental Mutation 'R5815:Tspan33'
ID 448993
Institutional Source Beutler Lab
Gene Symbol Tspan33
Ensembl Gene ENSMUSG00000001763
Gene Name tetraspanin 33
Synonyms Penumbra, Pen, 1300010A20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5815 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 29694221-29718558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29710688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 87 (R87Q)
Ref Sequence ENSEMBL: ENSMUSP00000110905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046750] [ENSMUST00000115250]
AlphaFold Q8R3S2
Predicted Effect probably damaging
Transcript: ENSMUST00000046750
AA Change: R88Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045282
Gene: ENSMUSG00000001763
AA Change: R88Q

DomainStartEndE-ValueType
Pfam:Tetraspannin 21 264 3.8e-86 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115250
AA Change: R87Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110905
Gene: ENSMUSG00000001763
AA Change: R87Q

DomainStartEndE-ValueType
Pfam:Tetraspannin 21 263 1.3e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137925
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the tetraspanin family which typically have four transmembrane domains. The encoded protein may be involved in the regulation of erythropoiesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a null mutation display anemia and partial penetrance of red blood cell abnormalities, splenomegaly, monocytosis, thrombocytopenia, reticulocytosis, and extramedullary hematopoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid A G 11: 117,726,530 (GRCm39) D226G probably benign Het
Ago2 T C 15: 72,979,215 (GRCm39) probably null Het
Aldh1a1 C A 19: 20,608,034 (GRCm39) D285E probably benign Het
Alms1 T C 6: 85,599,820 (GRCm39) S1549P probably damaging Het
Apmap T C 2: 150,442,171 (GRCm39) S68G probably benign Het
Atp8a1 A T 5: 67,906,414 (GRCm39) I500N probably benign Het
B3gnt7 A C 1: 86,233,510 (GRCm39) D135A probably benign Het
Bms1 A T 6: 118,381,240 (GRCm39) L692H probably damaging Het
Cdk17 T A 10: 93,064,559 (GRCm39) V276E probably damaging Het
Cep290 A T 10: 100,393,970 (GRCm39) E2059V possibly damaging Het
Cpxm2 C A 7: 131,645,839 (GRCm39) G693V probably damaging Het
Crocc A T 4: 140,762,507 (GRCm39) V661E probably damaging Het
D1Pas1 A T 1: 186,700,206 (GRCm39) N45I probably damaging Het
Ddx19a C T 8: 111,705,781 (GRCm39) W223* probably null Het
Ddx60 C A 8: 62,416,756 (GRCm39) S567Y probably damaging Het
Dhx36 A T 3: 62,401,176 (GRCm39) N363K probably damaging Het
Gm57859 C A 11: 113,578,783 (GRCm39) probably null Het
Gpr151 G A 18: 42,712,450 (GRCm39) T76M probably benign Het
Inhbc C T 10: 127,193,318 (GRCm39) V233I probably benign Het
Ippk C T 13: 49,599,839 (GRCm39) L233F probably damaging Het
Lama2 A G 10: 26,862,847 (GRCm39) V2972A probably damaging Het
Lrrc37a T C 11: 103,394,612 (GRCm39) Q271R probably benign Het
Mia2 A T 12: 59,220,892 (GRCm39) K1083N possibly damaging Het
Mphosph9 A C 5: 124,453,481 (GRCm39) L277R probably damaging Het
Myo7b A T 18: 32,099,341 (GRCm39) F1694I probably damaging Het
Obscn T C 11: 58,973,015 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2w6 T C 13: 21,842,707 (GRCm39) Y262C probably damaging Het
Pcdh10 A G 3: 45,347,156 (GRCm39) T984A probably benign Het
Pcdh20 T C 14: 88,708,312 (GRCm39) S39G probably benign Het
Pdia3 T A 2: 121,266,892 (GRCm39) Y467* probably null Het
Ptpn13 C A 5: 103,745,556 (GRCm39) probably null Het
Reln A G 5: 22,152,431 (GRCm39) M2345T probably damaging Het
Rnf126 A T 10: 79,602,603 (GRCm39) I20N probably benign Het
Satb1 A G 17: 52,089,981 (GRCm39) S289P possibly damaging Het
Scd4 A T 19: 44,326,003 (GRCm39) H119L probably damaging Het
Sco2 T C 15: 89,256,574 (GRCm39) T27A probably benign Het
Slc39a14 A T 14: 70,544,194 (GRCm39) I464N probably damaging Het
Slc4a8 T A 15: 100,686,092 (GRCm39) V220E probably benign Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Tmf1 T A 6: 97,150,364 (GRCm39) T448S probably benign Het
Vmn2r91 A T 17: 18,326,464 (GRCm39) M250L probably benign Het
Zc3h7a A T 16: 10,974,050 (GRCm39) V245D probably damaging Het
Other mutations in Tspan33
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0227:Tspan33 UTSW 6 29,713,477 (GRCm39) missense probably damaging 0.96
R0329:Tspan33 UTSW 6 29,711,091 (GRCm39) critical splice donor site probably null
R0330:Tspan33 UTSW 6 29,711,091 (GRCm39) critical splice donor site probably null
R1554:Tspan33 UTSW 6 29,711,081 (GRCm39) missense possibly damaging 0.84
R2078:Tspan33 UTSW 6 29,709,970 (GRCm39) missense probably benign
R5705:Tspan33 UTSW 6 29,717,232 (GRCm39) missense probably benign 0.07
R7101:Tspan33 UTSW 6 29,716,783 (GRCm39) missense probably benign 0.02
R7375:Tspan33 UTSW 6 29,713,519 (GRCm39) missense probably benign 0.17
R7535:Tspan33 UTSW 6 29,717,588 (GRCm39) missense possibly damaging 0.48
R7570:Tspan33 UTSW 6 29,717,337 (GRCm39) missense probably damaging 1.00
R8731:Tspan33 UTSW 6 29,717,310 (GRCm39) missense probably damaging 0.98
R9034:Tspan33 UTSW 6 29,717,611 (GRCm39) nonsense probably null
R9238:Tspan33 UTSW 6 29,710,652 (GRCm39) missense probably damaging 0.99
RF011:Tspan33 UTSW 6 29,716,729 (GRCm39) missense probably damaging 1.00
RF049:Tspan33 UTSW 6 29,709,997 (GRCm39) critical splice donor site probably benign
X0020:Tspan33 UTSW 6 29,710,630 (GRCm39) missense probably damaging 0.98
X0020:Tspan33 UTSW 6 29,694,532 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCACCAGACAAGGAGGTTC -3'
(R):5'- AATGCTATGGAGGTGGCCAC -3'

Sequencing Primer
(F):5'- CCCCCAGAACAGGAAGAAAGTTTG -3'
(R):5'- TACGCTGCCACCCAGAG -3'
Posted On 2016-12-20