Mutagenetix > Incidental Mutation

Incidental Mutation 'R3930:Tmem38b'

308413

Institutional Source

Beutler Lab

Gene Symbol

Tmem38b

Ensembl Gene

ENSMUSG00000028420

Gene Name

transmembrane protein 38B

Synonyms

D4Ertd89e, TRIC-B, 1600017F22Rik

MMRRC Submission

040917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53826045-53862019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53854398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 210 (F210S)

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: F210S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030127
Gene: ENSMUSG00000028420
AA Change: F210S

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

probably benign
Transcript: ENSMUST00000144167

SMART Domains

Protein: ENSMUSP00000120304
Gene: ENSMUSG00000028420

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

Meta Mutation Damage Score

0.6309

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	C	T	4: 144,396,698 (GRCm39)	E345K	probably damaging	Het
Bpifb1	A	G	2: 154,057,242 (GRCm39)	N400S	possibly damaging	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Crhr1	T	A	11: 104,044,377 (GRCm39)	S22T	probably benign	Het
Cyp4a10	G	T	4: 115,381,980 (GRCm39)	V221L	probably benign	Het
D1Pas1	G	T	1: 186,700,477 (GRCm39)	W135C	probably damaging	Het
Dcbld2	T	C	16: 58,285,701 (GRCm39)	L620P	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnm3	T	C	1: 161,911,699 (GRCm39)	D66G	probably damaging	Het
Fzd10	G	A	5: 128,679,476 (GRCm39)	V399M	probably damaging	Het
Gm10801	T	A	2: 98,494,361 (GRCm39)	I146N	possibly damaging	Het
Gm525	T	A	11: 88,965,830 (GRCm39)		probably null	Het
Gpr37l1	T	C	1: 135,089,100 (GRCm39)	I322V	probably benign	Het
Grid2ip	T	G	5: 143,371,794 (GRCm39)	S679R	probably damaging	Het
Gyg1	A	T	3: 20,209,189 (GRCm39)	S15T	probably benign	Het
Hace1	G	A	10: 45,587,604 (GRCm39)	C901Y	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hp1bp3	C	T	4: 137,949,018 (GRCm39)	A27V	probably benign	Het
Hsf5	A	G	11: 87,522,508 (GRCm39)	Y367C	probably damaging	Het
Igf2r	T	C	17: 12,924,716 (GRCm39)	I1034V	probably benign	Het
Itpr1	A	G	6: 108,371,802 (GRCm39)	T1159A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc14	T	C	15: 76,597,765 (GRCm39)	V165A	probably benign	Het
Lrrc45	C	T	11: 120,609,503 (GRCm39)	A422V	probably benign	Het
Lrrk2	T	A	15: 91,651,664 (GRCm39)		probably null	Het
Map3k4	T	C	17: 12,454,880 (GRCm39)	H1370R	possibly damaging	Het
Mpo	A	G	11: 87,691,866 (GRCm39)	Y433C	probably damaging	Het
Nfkbil1	G	T	17: 35,439,932 (GRCm39)	Q194K	probably benign	Het
Nin	C	T	12: 70,125,016 (GRCm39)	G102E	probably damaging	Het
Nmt1	T	C	11: 102,943,059 (GRCm39)	V138A	probably benign	Het
Optc	T	A	1: 133,828,920 (GRCm39)	R176*	probably null	Het
Or10aa3	A	T	1: 173,878,076 (GRCm39)	I46F	probably damaging	Het
Or4c110	A	G	2: 88,832,377 (GRCm39)	F85S	probably benign	Het
Or52ae9	A	C	7: 103,389,794 (GRCm39)	Y218D	probably damaging	Het
Or6n2	T	A	1: 173,897,147 (GRCm39)	F94L	probably damaging	Het
Oxct1	T	A	15: 4,066,601 (GRCm39)	N72K	possibly damaging	Het
Plxna2	G	A	1: 194,477,218 (GRCm39)	A1243T	probably benign	Het
Rin1	G	T	19: 5,103,002 (GRCm39)	L430F	probably benign	Het
Ros1	A	T	10: 52,070,944 (GRCm39)	S37T	possibly damaging	Het
Rrp36	G	T	17: 46,983,732 (GRCm39)	Q27K	probably damaging	Het
Sez6	T	C	11: 77,867,708 (GRCm39)	I875T	probably damaging	Het
Sfrp5	T	G	19: 42,190,257 (GRCm39)	Y65S	probably damaging	Het
Slc25a54	T	A	3: 109,023,820 (GRCm39)	L472I	probably benign	Het
Slc35d3	T	C	10: 19,724,605 (GRCm39)	E417G	probably damaging	Het
Sumf2	A	G	5: 129,878,820 (GRCm39)	D52G	probably benign	Het
Sympk	A	G	7: 18,781,447 (GRCm39)	N801S	possibly damaging	Het
Taf7l2	G	T	10: 115,948,540 (GRCm39)	Q329K	possibly damaging	Het
Tcstv2c	G	A	13: 120,616,368 (GRCm39)	C69Y	probably damaging	Het
Tnks	T	A	8: 35,407,966 (GRCm39)	H254L	probably damaging	Het
Trappc10	A	T	10: 78,046,237 (GRCm39)	V451E	probably benign	Het
Trim43a	A	T	9: 88,465,131 (GRCm39)	I153F	probably benign	Het
Tulp1	T	C	17: 28,572,683 (GRCm39)	N213S	probably damaging	Het
Ubr1	T	C	2: 120,746,951 (GRCm39)	D830G	probably benign	Het
Uqcc3	C	T	19: 8,858,069 (GRCm39)		probably null	Het
Vmn2r26	T	A	6: 124,002,938 (GRCm39)	M116K	probably benign	Het
Zscan12	A	G	13: 21,552,800 (GRCm39)	Q208R	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
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'- TAAATTGGTGTTTACAGAGCACTC -3'
(R):5'- CTGCCTATCCTGTCCAACATAAG -3'

Sequencing Primer
(F):5'- AGCACTCTGAGAAGATTGTAGAC -3'
(R):5'- TCTCCTGATGGCAGTGAAAAAC -3'

Posted On

2015-04-17