Incidental Mutation 'R1658:Tmem38b'
ID 186515
Institutional Source Beutler Lab
Gene Symbol Tmem38b
Ensembl Gene ENSMUSG00000028420
Gene Name transmembrane protein 38B
Synonyms D4Ertd89e, TRIC-B, 1600017F22Rik
MMRRC Submission 039694-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1658 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 53826045-53862019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53840713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 43 (M43V)
Ref Sequence ENSEMBL: ENSMUSP00000120304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030127] [ENSMUST00000144167]
AlphaFold Q9DAV9
Predicted Effect probably benign
Transcript: ENSMUST00000030127
AA Change: M67V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030127
Gene: ENSMUSG00000028420
AA Change: M67V

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
AA Change: M43V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120304
Gene: ENSMUSG00000028420
AA Change: M43V

DomainStartEndE-ValueType
Pfam:TRIC 9 164 3.1e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151206
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T G 5: 129,255,164 (GRCm39) S604A probably benign Het
Apbb1 G A 7: 105,223,291 (GRCm39) P107S probably damaging Het
Baz2a T A 10: 127,960,252 (GRCm39) M1489K probably benign Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdca2 A G 14: 67,915,148 (GRCm39) S704P possibly damaging Het
Cemip2 T C 19: 21,779,243 (GRCm39) V351A probably damaging Het
Chfr T C 5: 110,301,035 (GRCm39) I312T probably damaging Het
Csmd1 A G 8: 16,131,739 (GRCm39) V1662A possibly damaging Het
Dgkd T A 1: 87,853,990 (GRCm39) L611Q probably damaging Het
Dicer1 A G 12: 104,666,673 (GRCm39) V1376A probably benign Het
Elp2 C T 18: 24,750,470 (GRCm39) T269M probably benign Het
Ephb6 T A 6: 41,591,179 (GRCm39) V112E probably damaging Het
Fbxo11 A T 17: 88,320,086 (GRCm39) Y209N probably benign Het
Frem1 C T 4: 82,920,045 (GRCm39) R437Q probably damaging Het
G6pc2 A T 2: 69,057,413 (GRCm39) K353M probably damaging Het
Gabbr1 A G 17: 37,358,399 (GRCm39) T46A probably damaging Het
Gbp9 T A 5: 105,242,334 (GRCm39) Q135L probably damaging Het
Gstp1 A T 19: 4,087,375 (GRCm39) M20K probably damaging Het
Heatr6 A G 11: 83,649,193 (GRCm39) R183G probably damaging Het
Ints11 A G 4: 155,972,185 (GRCm39) K397E probably damaging Het
Intu A G 3: 40,647,211 (GRCm39) T695A probably benign Het
Kif21b T C 1: 136,099,023 (GRCm39) V1437A probably damaging Het
Klhl24 T A 16: 19,925,842 (GRCm39) Y123* probably null Het
Lipm C T 19: 34,093,847 (GRCm39) L255F probably benign Het
Max A T 12: 76,985,355 (GRCm39) M121K probably benign Het
Mga A T 2: 119,772,170 (GRCm39) I1677L possibly damaging Het
Msantd1 T A 5: 35,078,906 (GRCm39) L147Q probably benign Het
Msantd1 C A 5: 35,078,905 (GRCm39) L147M probably damaging Het
Mylk4 T C 13: 32,896,772 (GRCm39) D363G possibly damaging Het
Naaa T C 5: 92,420,300 (GRCm39) probably null Het
Ninl A G 2: 150,806,079 (GRCm39) Y381H probably damaging Het
Nwd2 A G 5: 63,964,589 (GRCm39) N1391S probably damaging Het
Or6k8-ps1 G A 1: 173,979,789 (GRCm39) A236T probably damaging Het
Or8g18 C T 9: 39,149,255 (GRCm39) C155Y probably benign Het
Phip A G 9: 82,753,551 (GRCm39) V1731A probably benign Het
Plxnb1 T A 9: 108,931,939 (GRCm39) C488* probably null Het
Rgs7 T C 1: 174,907,120 (GRCm39) I374V probably benign Het
Rin2 A T 2: 145,718,376 (GRCm39) M574L probably benign Het
Rps18 A T 17: 34,171,392 (GRCm39) D92E probably benign Het
Scrn1 T A 6: 54,497,791 (GRCm39) I267L probably benign Het
Stard9 T C 2: 120,532,023 (GRCm39) V67A probably benign Het
Syne1 T G 10: 5,317,616 (GRCm39) M493L probably benign Het
Tbc1d2 G A 4: 46,614,207 (GRCm39) R625C probably damaging Het
Tcerg1l A G 7: 137,995,909 (GRCm39) S200P probably damaging Het
Tet3 A T 6: 83,346,039 (GRCm39) V1331E probably benign Het
Ticrr A T 7: 79,345,297 (GRCm39) I1721F possibly damaging Het
Tjp2 T C 19: 24,090,311 (GRCm39) D577G probably damaging Het
Trabd T A 15: 88,970,069 (GRCm39) probably null Het
Trpv5 C A 6: 41,651,216 (GRCm39) D277Y probably damaging Het
Tubb1 A C 2: 174,298,416 (GRCm39) D67A probably damaging Het
Ubxn7 A G 16: 32,200,054 (GRCm39) probably null Het
Ugp2 G A 11: 21,283,774 (GRCm39) P98S probably benign Het
Vmn2r66 G T 7: 84,656,955 (GRCm39) P150Q probably benign Het
Zbtb11 A T 16: 55,794,588 (GRCm39) H55L possibly damaging 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
IGL02383:Tmem38b APN 4 53,854,345 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GGAAAGATCCTGACATCACCGCTG -3'
(R):5'- GGGTTCGTTCATTGCACATGCATTAAC -3'

Sequencing Primer
(F):5'- TGCCTGCATTGGAGAATACC -3'
(R):5'- TGCACATGCATTAACTTAAGGAC -3'
Posted On 2014-05-09