Incidental Mutation 'IGL01948:Tmem38b'
ID180993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem38b
Ensembl Gene ENSMUSG00000028420
Gene Nametransmembrane protein 38B
Synonyms1600017F22Rik, TRIC-B, D4Ertd89e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01948
Quality Score
Status
Chromosome4
Chromosomal Location53826045-53862019 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 53850530 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 171 (P171S)
Ref Sequence ENSEMBL: ENSMUSP00000030127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030127] [ENSMUST00000144167]
Predicted Effect probably damaging
Transcript: ENSMUST00000030127
AA Change: P171S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030127
Gene: ENSMUSG00000028420
AA Change: P171S

DomainStartEndE-ValueType
Pfam:TRIC 36 227 4.1e-81 PFAM
low complexity region 249 256 N/A INTRINSIC
low complexity region 265 274 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000144167
AA Change: P147S

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120304
Gene: ENSMUSG00000028420
AA Change: P147S

DomainStartEndE-ValueType
Pfam:TRIC 9 164 3.1e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151206
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]
PHENOTYPE: Homozygous null newborn mice die of respiratory failure showing atelectasis, pulmonary congestion, impaired maturation of alveolar type II cells, reduced lamellar body formation, abnormal synthesis and secretion of surfactant phospholipids, and impaired Ca2+ release in alveolar type II cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T C 5: 3,577,326 F101L probably damaging Het
Cacna1d T C 14: 30,124,794 T552A probably damaging Het
Ccdc81 T C 7: 89,875,855 D506G possibly damaging Het
Fam186b T C 15: 99,280,446 H333R probably benign Het
Fam222b T C 11: 78,154,339 V242A probably damaging Het
Gabra2 A G 5: 70,961,885 F425L probably damaging Het
Gm10717 A T 9: 3,025,819 T135S probably damaging Het
Gm8104 A T 14: 43,109,150 M120L probably benign Het
Gsdmc T C 15: 63,778,581 D308G probably damaging Het
Hook3 T A 8: 26,059,312 E168V possibly damaging Het
Ighv5-17 T A 12: 113,859,426 E25V probably damaging Het
Imp4 T G 1: 34,444,275 probably benign Het
Ms4a5 A C 19: 11,279,353 M60R probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Prokr2 G T 2: 132,373,683 A286E probably damaging Het
Ranbp9 T A 13: 43,422,553 Q226L probably damaging Het
Scara3 A G 14: 65,930,812 V452A probably damaging Het
Zdhhc17 G T 10: 110,946,276 T519K possibly damaging Het
Other mutations in Tmem38b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Tmem38b APN 4 53849024 missense probably damaging 1.00
IGL02383:Tmem38b APN 4 53854345 missense probably benign
IGL02619:Tmem38b APN 4 53848871 missense probably damaging 1.00
R0266:Tmem38b UTSW 4 53840765 missense probably damaging 1.00
R0849:Tmem38b UTSW 4 53840765 missense probably damaging 1.00
R1658:Tmem38b UTSW 4 53840713 missense probably benign
R3845:Tmem38b UTSW 4 53859905 missense probably benign 0.10
R3930:Tmem38b UTSW 4 53854398 missense probably damaging 1.00
R4012:Tmem38b UTSW 4 53854409 missense probably benign 0.01
R4233:Tmem38b UTSW 4 53840710 missense probably damaging 1.00
R4235:Tmem38b UTSW 4 53840710 missense probably damaging 1.00
R5388:Tmem38b UTSW 4 53859945 missense probably benign 0.04
R5708:Tmem38b UTSW 4 53849051 critical splice donor site probably null
R6083:Tmem38b UTSW 4 53840765 missense probably damaging 1.00
Posted On2014-05-07