Incidental Mutation 'IGL01068:Tmem38b'
ID 50847
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem38b
Ensembl Gene ENSMUSG00000028420
Gene Name transmembrane protein 38B
Synonyms 1600017F22Rik, TRIC-B, D4Ertd89e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01068
Quality Score
Chromosome 4
Chromosomal Location 53826045-53862019 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 53849024 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 119 (V119G)
Ref Sequence ENSEMBL: ENSMUSP00000120304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030127] [ENSMUST00000144167]
AlphaFold Q9DAV9
Predicted Effect probably damaging
Transcript: ENSMUST00000030127
AA Change: V143G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030127
Gene: ENSMUSG00000028420
AA Change: V143G

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 damaging
Transcript: ENSMUST00000144167
AA Change: V119G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120304
Gene: ENSMUSG00000028420
AA Change: V119G

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,504,175 probably benign Het
Adgra1 A G 7: 139,845,625 E18G probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Atg16l1 C T 1: 87,774,824 S269L probably damaging Het
Atp8a1 A G 5: 67,667,337 V853A probably benign Het
Bicral T C 17: 46,825,391 I298V probably damaging Het
Cad A G 5: 31,061,770 probably benign Het
Chd9 A T 8: 91,042,116 Y2448F probably benign Het
Clstn3 A G 6: 124,462,139 L16S probably damaging Het
Cmtr2 G A 8: 110,222,869 V604M possibly damaging Het
Ctcf A T 8: 105,681,485 probably benign Het
Eif2ak2 A G 17: 78,865,371 I295T probably damaging Het
Foxm1 G A 6: 128,370,967 R284H possibly damaging Het
Gabra2 T C 5: 70,962,072 I362M probably benign Het
Hivep1 C A 13: 42,159,984 P1900Q probably benign Het
Klhl25 G T 7: 75,866,149 E268* probably null Het
Klk1b16 T C 7: 44,140,678 L124P probably damaging Het
Ltf A T 9: 111,035,812 probably null Het
Mpped2 T A 2: 106,864,746 H248Q probably damaging Het
Mrpl1 T A 5: 96,224,036 probably benign Het
Mthfd1l T A 10: 4,028,428 S429R probably damaging Het
Myl2 G A 5: 122,106,704 V146I probably benign Het
Myo10 T A 15: 25,739,309 I527N possibly damaging Het
Ncoa3 T C 2: 166,052,795 S333P probably damaging Het
Olfr1297 T G 2: 111,621,340 T245P probably damaging Het
Olfr350 T G 2: 36,850,270 S75A probably damaging Het
Oxct1 T C 15: 4,053,764 F155S probably damaging Het
P4ha1 T C 10: 59,339,335 V39A probably damaging Het
Padi6 G T 4: 140,730,953 T514N possibly damaging Het
Pgm1 G A 5: 64,107,796 V387I probably damaging Het
Ppt1 G A 4: 122,844,007 C46Y probably damaging Het
Rnf225 T C 7: 12,928,900 probably benign Het
Rpl26 T C 11: 68,902,398 Y42H probably benign Het
Rundc1 A G 11: 101,434,142 N558S probably damaging Het
Sema3e T G 5: 14,233,718 probably null Het
Slc8a1 T C 17: 81,388,942 I888V probably benign Het
Thsd7b T C 1: 129,596,146 C306R probably damaging Het
Tmem209 A C 6: 30,502,086 L197R probably benign Het
Trpc1 T C 9: 95,726,494 D82G probably damaging Het
Zfp292 A G 4: 34,806,763 F2094L probably damaging Het
Zfp638 C T 6: 83,934,994 R453W probably damaging Het
Other mutations in Tmem38b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01948:Tmem38b APN 4 53850530 missense probably damaging 0.97
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
R8272:Tmem38b UTSW 4 53854332 missense probably damaging 0.99
R9256:Tmem38b UTSW 4 53848924 missense probably damaging 0.97
Posted On 2013-06-21