Incidental Mutation 'IGL02383:Tmem38b'
ID 291455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem38b
Ensembl Gene ENSMUSG00000028420
Gene Name transmembrane protein 38B
Synonyms D4Ertd89e, TRIC-B, 1600017F22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02383
Quality Score
Status
Chromosome 4
Chromosomal Location 53826045-53862019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53854345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 192 (M192I)
Ref Sequence ENSEMBL: ENSMUSP00000030127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030127] [ENSMUST00000144167]
AlphaFold Q9DAV9
Predicted Effect probably benign
Transcript: ENSMUST00000030127
AA Change: M192I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030127
Gene: ENSMUSG00000028420
AA Change: M192I

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 probably benign
Transcript: ENSMUST00000144167
SMART Domains Protein: ENSMUSP00000120304
Gene: ENSMUSG00000028420

DomainStartEndE-ValueType
Pfam:TRIC 9 164 3.1e-77 PFAM
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T C 6: 133,269,205 (GRCm39) probably benign Het
Adap2 C A 11: 80,051,015 (GRCm39) A115D probably damaging Het
Ankrd1 A G 19: 36,097,165 (GRCm39) V6A probably benign Het
Apobr T A 7: 126,185,779 (GRCm39) V430E probably benign Het
Arhgap28 A G 17: 68,203,084 (GRCm39) V123A probably benign Het
Atp2b2 A G 6: 113,790,903 (GRCm39) V167A probably damaging Het
B3galnt2 A T 13: 14,171,618 (GRCm39) *505C probably null Het
Bcat2 T A 7: 45,237,431 (GRCm39) L305Q probably damaging Het
Coa8 T A 12: 111,690,847 (GRCm39) probably benign Het
Col9a1 T C 1: 24,224,339 (GRCm39) S174P unknown Het
Ddx41 A T 13: 55,680,170 (GRCm39) D418E probably benign Het
Defa40 A G 8: 21,740,377 (GRCm39) D61G probably damaging Het
Exoc6 T C 19: 37,566,922 (GRCm39) F240L probably benign Het
Fbln7 G A 2: 128,737,477 (GRCm39) V431I probably benign Het
Gfral T A 9: 76,104,374 (GRCm39) N213Y probably damaging Het
Golgb1 A G 16: 36,706,562 (GRCm39) D22G probably benign Het
H2-M1 G A 17: 36,981,141 (GRCm39) T298I unknown Het
Haus3 A T 5: 34,323,580 (GRCm39) Y343* probably null Het
Hid1 T C 11: 115,243,446 (GRCm39) E534G probably damaging Het
Il4ra T C 7: 125,170,676 (GRCm39) V196A probably benign Het
Itm2b C A 14: 73,600,536 (GRCm39) E255* probably null Het
Kidins220 A T 12: 25,047,332 (GRCm39) probably benign Het
Klhl22 T A 16: 17,594,762 (GRCm39) F297Y possibly damaging Het
Krt9 T C 11: 100,082,041 (GRCm39) E253G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Map3k6 T A 4: 132,973,932 (GRCm39) probably null Het
Med29 C A 7: 28,086,448 (GRCm39) R120L possibly damaging Het
Napa C T 7: 15,846,503 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,961,624 (GRCm39) Y351N probably benign Het
Nphs1 C T 7: 30,181,060 (GRCm39) probably benign Het
Or5b94 A G 19: 12,651,899 (GRCm39) D110G probably benign Het
Prss16 T C 13: 22,193,697 (GRCm39) I33V probably benign Het
Ripk1 A G 13: 34,199,227 (GRCm39) Y193C probably damaging Het
Rph3a C T 5: 121,102,002 (GRCm39) R78H probably damaging Het
Rrp9 T A 9: 106,362,471 (GRCm39) I452N probably damaging Het
Ryr2 A T 13: 11,737,607 (GRCm39) probably benign Het
Sec23a A G 12: 59,048,813 (GRCm39) L103P probably damaging Het
Slc17a9 A C 2: 180,377,674 (GRCm39) D190A probably benign Het
Slc44a4 G A 17: 35,146,686 (GRCm39) V422I probably benign Het
Smc5 C T 19: 23,191,996 (GRCm39) probably benign Het
Tax1bp1 C T 6: 52,730,351 (GRCm39) S611F probably benign Het
Unc45a G T 7: 79,989,410 (GRCm39) C34* probably null Het
Usp46 T A 5: 74,190,014 (GRCm39) M6L probably benign Het
Uspl1 G A 5: 149,150,212 (GRCm39) V471M probably damaging Het
Vmn1r35 T A 6: 66,655,875 (GRCm39) Q265L probably damaging Het
Vmn1r35 G T 6: 66,655,876 (GRCm39) Q265K probably damaging Het
Vmn1r50 A G 6: 90,084,461 (GRCm39) I69V possibly damaging Het
Vps33b A G 7: 79,935,082 (GRCm39) probably null Het
Xntrpc A C 7: 101,742,802 (GRCm39) D604A probably damaging Het
Yeats4 T A 10: 117,051,716 (GRCm39) R180S probably benign Het
Other mutations in Tmem38b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Tmem38b APN 4 53,849,024 (GRCm39) missense probably damaging 1.00
IGL01948:Tmem38b APN 4 53,850,530 (GRCm39) missense probably damaging 0.97
IGL02619:Tmem38b APN 4 53,848,871 (GRCm39) missense probably damaging 1.00
R0266:Tmem38b UTSW 4 53,840,765 (GRCm39) missense probably damaging 1.00
R0849:Tmem38b UTSW 4 53,840,765 (GRCm39) missense probably damaging 1.00
R1658:Tmem38b UTSW 4 53,840,713 (GRCm39) missense probably benign
R3845:Tmem38b UTSW 4 53,859,905 (GRCm39) missense probably benign 0.10
R3930:Tmem38b UTSW 4 53,854,398 (GRCm39) missense probably damaging 1.00
R4012:Tmem38b UTSW 4 53,854,409 (GRCm39) missense probably benign 0.01
R4233:Tmem38b UTSW 4 53,840,710 (GRCm39) missense probably damaging 1.00
R4235:Tmem38b UTSW 4 53,840,710 (GRCm39) missense probably damaging 1.00
R5388:Tmem38b UTSW 4 53,859,945 (GRCm39) missense probably benign 0.04
R5708:Tmem38b UTSW 4 53,849,051 (GRCm39) critical splice donor site probably null
R6083:Tmem38b UTSW 4 53,840,765 (GRCm39) missense probably damaging 1.00
R8272:Tmem38b UTSW 4 53,854,332 (GRCm39) missense probably damaging 0.99
R9256:Tmem38b UTSW 4 53,848,924 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16