Incidental Mutation 'R2078:Tspan33'
ID 229273
Institutional Source Beutler Lab
Gene Symbol Tspan33
Ensembl Gene ENSMUSG00000001763
Gene Name tetraspanin 33
Synonyms Penumbra, Pen, 1300010A20Rik
MMRRC Submission 040083-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R2078 (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 29709970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 45 (V45I)
Ref Sequence ENSEMBL: ENSMUSP00000110905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046750] [ENSMUST00000115250]
AlphaFold Q8R3S2
Predicted Effect probably benign
Transcript: ENSMUST00000046750
AA Change: V45I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045282
Gene: ENSMUSG00000001763
AA Change: V45I

DomainStartEndE-ValueType
Pfam:Tetraspannin 21 264 3.8e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115250
AA Change: V45I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110905
Gene: ENSMUSG00000001763
AA Change: V45I

DomainStartEndE-ValueType
Pfam:Tetraspannin 21 263 1.3e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137925
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 C A 1: 75,148,780 (GRCm39) G55C probably damaging Het
Acss3 T C 10: 106,802,902 (GRCm39) T448A possibly damaging Het
Atxn7 A G 14: 14,052,975 (GRCm38) N138D probably damaging Het
Cacna2d4 A T 6: 119,315,077 (GRCm39) D869V probably benign Het
Cps1 T G 1: 67,196,965 (GRCm39) Y339D probably damaging Het
Cps1 T C 1: 67,234,424 (GRCm39) I937T possibly damaging Het
Dlgap4 T C 2: 156,604,746 (GRCm39) S261P probably damaging Het
Dusp6 T C 10: 99,099,686 (GRCm39) Y45H probably damaging Het
Ebag9 A G 15: 44,500,200 (GRCm39) N157S probably damaging Het
Exoc4 A G 6: 33,887,522 (GRCm39) D770G probably benign Het
Ezr A G 17: 7,050,041 (GRCm39) M1T probably null Het
Fat4 A G 3: 38,943,822 (GRCm39) N905S probably damaging Het
Fcrlb C G 1: 170,735,650 (GRCm39) R208P probably damaging Het
Flnb T C 14: 7,927,466 (GRCm38) V1892A probably damaging Het
Gas2 G A 7: 51,547,073 (GRCm39) V75M probably benign Het
Gda T A 19: 21,378,036 (GRCm39) D267V probably damaging Het
Gper1 A T 5: 139,411,888 (GRCm39) I78F probably benign Het
Hectd1 A C 12: 51,795,325 (GRCm39) I2368S probably damaging Het
Katna1 C T 10: 7,619,333 (GRCm39) P114S probably benign Het
Lce3c G A 3: 92,852,758 (GRCm39) S73N unknown Het
Lrfn3 A T 7: 30,059,879 (GRCm39) D115E possibly damaging Het
Lrrc47 C A 4: 154,103,888 (GRCm39) T505K probably damaging Het
Mertk C T 2: 128,636,378 (GRCm39) T784I probably damaging Het
Mettl21e T A 1: 44,245,662 (GRCm39) I195F possibly damaging Het
Mff T C 1: 82,719,642 (GRCm39) S207P probably damaging Het
Mtmr6 A G 14: 60,529,436 (GRCm39) probably null Het
Myh9 T C 15: 77,648,112 (GRCm39) K1788R probably benign Het
Narf A G 11: 121,136,220 (GRCm39) T199A probably benign Het
Neurod6 A G 6: 55,655,954 (GRCm39) S228P probably benign Het
Notch4 A T 17: 34,787,689 (GRCm39) probably null Het
Nyap2 T C 1: 81,169,696 (GRCm39) L151P probably damaging Het
Or5b21 T A 19: 12,839,751 (GRCm39) V204E probably benign Het
P2ry1 A G 3: 60,911,118 (GRCm39) I86V probably damaging Het
Pafah1b2 G T 9: 45,880,127 (GRCm39) D183E probably damaging Het
Phldb1 T C 9: 44,619,276 (GRCm39) E179G probably damaging Het
Piezo2 T C 18: 63,250,791 (GRCm39) E436G probably damaging Het
Pkhd1l1 A G 15: 44,391,163 (GRCm39) I1514V probably benign Het
Plch1 A G 3: 63,609,364 (GRCm39) S948P probably benign Het
Rfc5 A G 5: 117,518,868 (GRCm39) V296A probably benign Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rsbn1 A G 3: 103,868,839 (GRCm39) D626G probably damaging Het
Sfswap A G 5: 129,593,171 (GRCm39) D346G possibly damaging Het
Slc38a11 A T 2: 65,160,728 (GRCm39) F289I possibly damaging Het
Terf2ip A G 8: 112,742,035 (GRCm39) N243S probably benign Het
Tmed5 A T 5: 108,272,471 (GRCm39) V209E probably damaging Het
Tmem63b A G 17: 45,974,462 (GRCm39) S603P possibly damaging Het
Tomm20 T C 8: 127,663,822 (GRCm39) M121V possibly damaging Het
Usp17la A T 7: 104,508,600 (GRCm39) M1L probably benign Het
Vsig8 C A 1: 172,390,856 (GRCm39) D301E probably benign Het
Vwa8 T A 14: 79,145,597 (GRCm39) H91Q 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
R5705:Tspan33 UTSW 6 29,717,232 (GRCm39) missense probably benign 0.07
R5815:Tspan33 UTSW 6 29,710,688 (GRCm39) missense probably damaging 1.00
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'- AGCCCTGAGTTATACCTCCAGAC -3'
(R):5'- TCAGACAGATCTTGGGAGGG -3'

Sequencing Primer
(F):5'- TCCATCTGTGAAATGCGGAC -3'
(R):5'- GGGGCTCAGGAAAACCCAC -3'
Posted On 2014-09-17