Mutagenetix > Incidental Mutation

Incidental Mutation 'R5388:Tmem38b'

425396

Institutional Source

Beutler Lab

Gene Symbol

Tmem38b

Ensembl Gene

ENSMUSG00000028420

Gene Name

transmembrane protein 38B

Synonyms

D4Ertd89e, TRIC-B, 1600017F22Rik

MMRRC Submission

042960-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53826045-53862019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53859945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 242 (R242W)

Ref Sequence

ENSEMBL: ENSMUSP00000030127 (fasta)

Gene Model

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

AlphaFold

Q9DAV9

Predicted Effect

probably benign
Transcript: ENSMUST00000030127
AA Change: R242W

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000030127
Gene: ENSMUSG00000028420
AA Change: R242W

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

noncoding transcript
Transcript: ENSMUST00000083953

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (57/58)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,969 (GRCm39)		probably null	Het
Acap2	C	A	16: 30,928,543 (GRCm39)	C475F	probably damaging	Het
Ace	C	A	11: 105,879,284 (GRCm39)	P603Q	possibly damaging	Het
Adamts20	C	G	15: 94,243,659 (GRCm39)	V657L	possibly damaging	Het
Antxr2	A	G	5: 98,125,458 (GRCm39)		probably null	Het
Atp6v1b2	G	A	8: 69,554,089 (GRCm39)	V89I	probably benign	Het
Cacna1e	G	A	1: 154,353,542 (GRCm39)	P676L	probably damaging	Het
Camsap3	A	T	8: 3,654,276 (GRCm39)	I649F	probably damaging	Het
Camta1	G	T	4: 151,159,695 (GRCm39)	S490R	probably damaging	Het
Celsr1	A	G	15: 85,809,719 (GRCm39)	I2221T	probably damaging	Het
Cfd	A	T	10: 79,727,959 (GRCm39)	D164V	probably damaging	Het
Cfdp1	T	C	8: 112,495,384 (GRCm39)	D278G	probably damaging	Het
Cntn6	A	T	6: 104,809,523 (GRCm39)	L519F	probably damaging	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Cybrd1	T	C	2: 70,967,989 (GRCm39)		probably null	Het
Cyp2e1	T	C	7: 140,343,906 (GRCm39)	L48P	probably damaging	Het
Eddm13	T	C	7: 6,269,346 (GRCm39)		probably null	Het
Ep400	G	A	5: 110,849,594 (GRCm39)	T1409I	unknown	Het
Exosc7	A	T	9: 122,947,972 (GRCm39)	D47V	probably damaging	Het
Fgr	T	C	4: 132,722,342 (GRCm39)	F204L	probably damaging	Het
Gm10100	G	A	10: 77,562,560 (GRCm39)	V81M	probably benign	Het
Gm12367	T	C	4: 35,235,690 (GRCm39)		noncoding transcript	Het
Grxcr1	C	A	5: 68,323,538 (GRCm39)	T272K	probably damaging	Het
Kcna5	C	T	6: 126,511,859 (GRCm39)	D90N	probably benign	Het
Kdm5b	T	A	1: 134,536,635 (GRCm39)	Y618*	probably null	Het
Lama5	T	A	2: 179,832,539 (GRCm39)	H1670L	possibly damaging	Het
Mtus2	C	T	5: 148,243,518 (GRCm39)	Q113*	probably null	Het
Ncam1	A	C	9: 49,456,054 (GRCm39)	D521E	probably benign	Het
Nkapl	T	C	13: 21,651,740 (GRCm39)	H291R	possibly damaging	Het
Nlrp1b	T	G	11: 71,062,967 (GRCm39)	N695H	probably damaging	Het
Npc1l1	T	A	11: 6,164,733 (GRCm39)	Q1105H	probably damaging	Het
Paxip1	C	G	5: 27,986,453 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,583,695 (GRCm39)	W136R	probably damaging	Het
Pira1	T	C	7: 3,741,856 (GRCm39)	T175A	possibly damaging	Het
Pkn3	T	A	2: 29,971,086 (GRCm39)	S222T	probably damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppfibp1	T	A	6: 146,898,338 (GRCm39)	I98N	probably damaging	Het
Ppfibp1	T	G	6: 146,917,828 (GRCm39)	S484A	probably damaging	Het
Ppp1r7	T	C	1: 93,280,312 (GRCm39)	F127L	probably damaging	Het
Pramel1	T	C	4: 143,123,954 (GRCm39)	Y210H	probably benign	Het
Rad21l	C	T	2: 151,495,403 (GRCm39)	V427I	probably benign	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Rnf225	A	G	7: 12,661,932 (GRCm39)	D37G	probably damaging	Het
Smpd2	A	G	10: 41,363,967 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,119,561 (GRCm39)	Q4483R	probably damaging	Het
Topaz1	A	T	9: 122,603,158 (GRCm39)	K1035I	possibly damaging	Het
Trhr	T	C	15: 44,060,873 (GRCm39)	I131T	possibly damaging	Het
Usp1	A	G	4: 98,819,294 (GRCm39)	D252G	probably benign	Het
Usp14	C	T	18: 10,018,023 (GRCm39)	E90K	probably damaging	Het
Yme1l1	T	G	2: 23,052,569 (GRCm39)	D74E	probably benign	Het
Ythdc2	T	A	18: 44,990,092 (GRCm39)	L732Q	possibly damaging	Het
Zbbx	G	T	3: 74,990,977 (GRCm39)	A289D	probably damaging	Het
Zfhx3	G	A	8: 109,673,446 (GRCm39)	V1499I	possibly damaging	Het
Zfp622	T	C	15: 25,996,285 (GRCm39)	V184A	possibly damaging	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
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'- CTGACCCATGCCAGACATATAG -3'
(R):5'- GAGAAGTAACTCCTCCTCCTGC -3'

Sequencing Primer
(F):5'- AGCGATCTGAGATTTTTCCCAG -3'
(R):5'- TCCTCCTGCCTCCGACG -3'

Posted On

2016-08-04