Incidental Mutation 'PIT4468001:Tmem100'
ID 555653
Institutional Source Beutler Lab
Gene Symbol Tmem100
Ensembl Gene ENSMUSG00000069763
Gene Name transmembrane protein 100
Synonyms 1810057C19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4468001 (G1)
Quality Score 118.008
Status Not validated
Chromosome 11
Chromosomal Location 89921174-89927334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89926187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 5 (S5T)
Ref Sequence ENSEMBL: ENSMUSP00000090464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092788]
AlphaFold Q9CQG9
Predicted Effect probably benign
Transcript: ENSMUST00000092788
AA Change: S5T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000090464
Gene: ENSMUSG00000069763
AA Change: S5T

DomainStartEndE-ValueType
Pfam:TMEM100 1 133 7.8e-64 PFAM
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.7%
  • 10x: 85.2%
  • 20x: 72.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutations display prenatal lethality. Mice homozygous for one null mutation display defects in arterial differentiation and maturation and complete lethality during organogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik C T 14: 4,348,940 (GRCm38) L34F probably damaging Het
Alms1 T C 6: 85,601,701 (GRCm39) probably null Het
Arhgap15 C A 2: 44,133,143 (GRCm39) Q350K probably damaging Het
Bbs1 T A 19: 4,956,190 (GRCm39) H35L probably benign Het
Cep85 T C 4: 133,876,008 (GRCm39) N468S probably damaging Het
Chd8 T C 14: 52,455,338 (GRCm39) I1050V possibly damaging Het
Chd8 A C 14: 52,445,453 (GRCm39) D1709E probably benign Het
Clec9a G A 6: 129,396,597 (GRCm39) probably null Het
Cyp2c70 T A 19: 40,153,806 (GRCm39) D261V probably damaging Het
Deup1 T C 9: 15,475,301 (GRCm39) N420D possibly damaging Het
Dpys T A 15: 39,720,601 (GRCm39) D53V probably damaging Het
Edem1 A G 6: 108,821,828 (GRCm39) E295G probably damaging Het
Farp2 G T 1: 93,456,499 (GRCm39) E61* probably null Het
Fat3 T G 9: 15,907,647 (GRCm39) D2785A probably benign Het
Fbxo30 T A 10: 11,166,700 (GRCm39) M474K possibly damaging Het
Gm13090 C A 4: 151,175,539 (GRCm39) P93Q unknown Het
Gm21976 A T 13: 98,443,535 (GRCm39) R229* probably null Het
Gpr108 A T 17: 57,554,563 (GRCm39) L25Q probably null Het
Hdac9 C A 12: 34,145,933 (GRCm39) V920F unknown Het
Ighv13-2 T C 12: 114,321,593 (GRCm39) S49G probably benign Het
Krt6a T C 15: 101,602,352 (GRCm39) Y111C probably damaging Het
Mib1 T C 18: 10,798,463 (GRCm39) S775P possibly damaging Het
Mki67 A G 7: 135,300,876 (GRCm39) I1386T probably benign Het
Mroh2b A G 15: 4,942,294 (GRCm39) E352G probably damaging Het
Nfya A G 17: 48,702,805 (GRCm39) M61T unknown Het
Ntn4 A G 10: 93,480,587 (GRCm39) T104A probably damaging Het
Numb G A 12: 83,854,921 (GRCm39) T135I probably damaging Het
Or4b12 C A 2: 90,096,564 (GRCm39) C70F probably benign Het
Or52ab4 A C 7: 102,987,807 (GRCm39) E182A probably damaging Het
Or5m5 A T 2: 85,814,792 (GRCm39) T203S probably benign Het
Parpbp A C 10: 87,979,935 (GRCm39) L7R probably benign Het
Pcdhb8 T C 18: 37,489,686 (GRCm39) Y455H probably damaging Het
Pcdhga10 T A 18: 37,880,936 (GRCm39) D232E probably damaging Het
Pcdhga9 T A 18: 37,872,527 (GRCm39) C785* probably null Het
Pkd1l3 A G 8: 110,391,131 (GRCm39) Y1913C possibly damaging Het
Pld4 T G 12: 112,734,256 (GRCm39) L374R probably damaging Het
Ppp1r13b A T 12: 111,805,136 (GRCm39) I350N probably benign Het
Rc3h2 C A 2: 37,289,651 (GRCm39) G387V probably damaging Het
Rfwd3 T C 8: 112,009,352 (GRCm39) H408R probably benign Het
Rpl3l A G 17: 24,954,457 (GRCm39) T173A probably benign Het
Sdad1 T C 5: 92,439,777 (GRCm39) D416G probably damaging Het
Srp72 C A 5: 77,142,053 (GRCm39) T430K probably benign Het
Steap1 C A 5: 5,786,642 (GRCm39) G265V probably damaging Het
Sulf2 A T 2: 165,922,720 (GRCm39) I670N probably benign Het
Tcf7l2 A T 19: 55,730,820 (GRCm39) D16V probably damaging Het
Tnc C A 4: 63,882,904 (GRCm39) D1906Y probably damaging Het
Trak1 T C 9: 121,282,398 (GRCm39) S436P probably benign Het
Ttyh1 T C 7: 4,122,771 (GRCm39) Y40H possibly damaging Het
Ubxn8 T A 8: 34,111,569 (GRCm39) S275C probably benign Het
Umodl1 A G 17: 31,178,252 (GRCm39) Y76C probably damaging Het
Upk3b C T 5: 136,071,861 (GRCm39) T222M probably benign Het
Usp42 T A 5: 143,700,399 (GRCm39) K1208M probably damaging Het
Vmn2r25 A T 6: 123,816,557 (GRCm39) D341E probably benign Het
Vmn2r83 T G 10: 79,313,884 (GRCm39) L164R probably damaging Het
Vwa8 G T 14: 79,420,501 (GRCm39) R1734L probably damaging Het
Zfand2b G T 1: 75,146,476 (GRCm39) R117L probably benign Het
Other mutations in Tmem100
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2333:Tmem100 UTSW 11 89,926,424 (GRCm39) missense probably benign
R4705:Tmem100 UTSW 11 89,926,389 (GRCm39) missense probably damaging 1.00
R4819:Tmem100 UTSW 11 89,926,271 (GRCm39) missense probably benign 0.00
R7420:Tmem100 UTSW 11 89,926,579 (GRCm39) makesense probably null
R7808:Tmem100 UTSW 11 89,926,302 (GRCm39) missense probably benign 0.02
R8749:Tmem100 UTSW 11 89,926,574 (GRCm39) missense probably damaging 1.00
R8973:Tmem100 UTSW 11 89,926,302 (GRCm39) missense probably benign 0.02
R9364:Tmem100 UTSW 11 89,926,533 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAATAAGTGAGGCTTGTGCTCC -3'
(R):5'- TCCCAGTGATGAAGACCACC -3'

Sequencing Primer
(F):5'- CTTGTGCTCCTGGGTGAC -3'
(R):5'- GTGATGAAGACCACCACGGC -3'
Posted On 2019-06-07