Mutagenetix > Incidental Mutation

Incidental Mutation 'R8272:Tmem38b'

637768

Institutional Source

Beutler Lab

Gene Symbol

Tmem38b

Ensembl Gene

ENSMUSG00000028420

Gene Name

transmembrane protein 38B

Synonyms

D4Ertd89e, TRIC-B, 1600017F22Rik

MMRRC Submission

067695-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8272 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53826045-53862019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53854332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 188 (L188Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030127] [ENSMUST00000144167]

AlphaFold

Q9DAV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030127
AA Change: L188Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030127
Gene: ENSMUSG00000028420
AA Change: L188Q

Domain	Start	End	E-Value	Type
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

silent
Transcript: ENSMUST00000144167

SMART Domains

Protein: ENSMUSP00000120304
Gene: ENSMUSG00000028420

Domain	Start	End	E-Value	Type
Pfam:TRIC	9	164	3.1e-77	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	G	A	2: 103,856,499 (GRCm39)	R21C	unknown	Het
4933407L21Rik	G	T	1: 85,859,118 (GRCm39)	E90*	probably null	Het
Abca15	A	G	7: 120,006,665 (GRCm39)	Y1643C	probably damaging	Het
Adtrp	G	T	13: 41,969,630 (GRCm39)	A123D	probably damaging	Het
Asmt	A	T	X: 169,106,460 (GRCm39)	D20V	possibly damaging	Het
Bid	T	C	6: 120,877,176 (GRCm39)	E55G	probably damaging	Het
Brd3	A	G	2: 27,351,725 (GRCm39)	V176A	probably benign	Het
Btnl2	G	T	17: 34,575,275 (GRCm39)		probably null	Het
Card11	A	G	5: 140,875,794 (GRCm39)	S562P	probably damaging	Het
Carmil1	T	G	13: 24,220,562 (GRCm39)	H1054P	probably benign	Het
Casp8	T	G	1: 58,872,901 (GRCm39)	M259R	probably damaging	Het
Ccin	G	A	4: 43,984,064 (GRCm39)	R157H	probably damaging	Het
Cfap45	G	A	1: 172,355,406 (GRCm39)	R18Q	possibly damaging	Het
Chuk	A	G	19: 44,092,175 (GRCm39)	I41T	possibly damaging	Het
Col28a1	G	A	6: 8,154,175 (GRCm39)	P333L	possibly damaging	Het
Cspg4b	A	T	13: 113,504,889 (GRCm39)	D1979V		Het
Ctnna3	T	G	10: 64,838,377 (GRCm39)	V818G	probably damaging	Het
Cyp4f18	G	T	8: 72,742,935 (GRCm39)	L456M	probably benign	Het
Ddx50	A	G	10: 62,457,256 (GRCm39)	V598A	probably benign	Het
Dhrs7b	C	A	11: 60,742,580 (GRCm39)	Q91K	probably benign	Het
Dnah11	T	A	12: 118,074,752 (GRCm39)	T1367S	probably benign	Het
Fam98b	T	A	2: 117,093,335 (GRCm39)	C183S	probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fbxw15	A	C	9: 109,388,828 (GRCm39)	S194A	probably benign	Het
Flrt3	G	T	2: 140,502,617 (GRCm39)	P337Q	probably damaging	Het
Gm12695	A	G	4: 96,612,183 (GRCm39)	Y527H	possibly damaging	Het
Gramd1b	T	C	9: 40,215,820 (GRCm39)	T677A	probably benign	Het
Grm8	A	T	6: 27,363,281 (GRCm39)	S745T	probably damaging	Het
Kctd8	T	C	5: 69,267,803 (GRCm39)	K436E	probably benign	Het
Klf5	G	T	14: 99,539,540 (GRCm39)	A318S	possibly damaging	Het
L3mbtl3	C	T	10: 26,179,566 (GRCm39)	V505M	unknown	Het
Letm2	A	G	8: 26,076,672 (GRCm39)	L310P	probably damaging	Het
Lrrc4	T	C	6: 28,662,192 (GRCm39)	H174R	unknown	Het
Myh11	T	C	16: 14,036,718 (GRCm39)	S995G		Het
Myh7b	A	T	2: 155,474,824 (GRCm39)	E1787D	probably damaging	Het
Myoc	T	C	1: 162,466,995 (GRCm39)	S55P	probably benign	Het
Naaladl2	T	C	3: 24,112,366 (GRCm39)	Q572R	probably damaging	Het
Nanog	T	A	6: 122,688,736 (GRCm39)	S131T	probably benign	Het
Nifk	A	G	1: 118,260,134 (GRCm39)	K230E	probably benign	Het
Nlrp10	A	G	7: 108,525,103 (GRCm39)	S126P	probably benign	Het
Npc1l1	T	A	11: 6,179,327 (GRCm39)	K28*	probably null	Het
Or13m2-ps1	A	G	6: 42,778,038 (GRCm39)	D121G	probably damaging	Het
Or5b102	G	A	19: 13,040,795 (GRCm39)	V7M	possibly damaging	Het
Pcdhac2	T	A	18: 37,279,242 (GRCm39)	C741S	probably benign	Het
Pcx	A	T	19: 4,651,758 (GRCm39)	N45I	probably damaging	Het
Peak1	A	G	9: 56,166,182 (GRCm39)	V582A	probably damaging	Het
Plcxd3	G	T	15: 4,546,218 (GRCm39)	R74L	probably damaging	Het
Ptpn21	G	A	12: 98,654,789 (GRCm39)	A726V	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rimbp3	T	C	16: 17,026,969 (GRCm39)	V131A	possibly damaging	Het
Rrp1b	A	G	17: 32,276,163 (GRCm39)	K570R	probably benign	Het
Serpinb1a	A	T	13: 33,029,720 (GRCm39)	F167L	probably damaging	Het
Slc12a1	T	C	2: 125,070,736 (GRCm39)	L1076S	probably damaging	Het
Sspo	A	T	6: 48,425,453 (GRCm39)	T25S	probably benign	Het
Syvn1	G	A	19: 6,097,971 (GRCm39)	R3H	probably damaging	Het
Tead2	A	G	7: 44,878,166 (GRCm39)	E280G	probably benign	Het
Tmem263	T	A	10: 84,950,431 (GRCm39)	V74E	possibly damaging	Het
Tmod4	C	T	3: 95,033,171 (GRCm39)	T55I	probably damaging	Het
Tmprss12	A	T	15: 100,180,146 (GRCm39)	E62V	probably benign	Het
Trim27	G	A	13: 21,364,780 (GRCm39)	C39Y	probably benign	Het
Vmn2r110	A	G	17: 20,816,490 (GRCm39)	L11S	probably damaging	Het
Vmn2r125	A	G	4: 156,702,373 (GRCm39)	Y53C	probably damaging	Het
Vmn2r65	A	T	7: 84,596,817 (GRCm39)	F79L	probably benign	Het
Vps13a	A	G	19: 16,727,209 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,345,142 (GRCm39)	T1174A	probably benign	Het
Zfhx4	T	G	3: 5,308,927 (GRCm39)	S718A	probably damaging	Het
Zfp78	A	G	7: 6,376,213 (GRCm39)	T41A	probably benign	Het

Other mutations in Tmem38b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9256:Tmem38b	UTSW	4	53,848,924 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTCTAGTACTTTATGCTGTGAGAAAAG -3'
(R):5'- AGGAAATCCTGATGCACTGAG -3'

Sequencing Primer
(F):5'- GGTGTTTACAGAGCACTC -3'
(R):5'- GCAAACTCTCCCAGAACCATCTTTTC -3'

Posted On

2020-07-28