Mutagenetix > Incidental Mutation

Incidental Mutation 'R6415:Sftpb'

517858

Institutional Source

Beutler Lab

Gene Symbol

Sftpb

Ensembl Gene

ENSMUSG00000056370

Gene Name

surfactant associated protein B

Synonyms

SF-B, Sftp-3, Sftp3, SP-B

MMRRC Submission

044557-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.629) question?

Stock #

R6415 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

72281594-72291354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72281633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 9 (W9G)

Ref Sequence

ENSEMBL: ENSMUSP00000138695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070437] [ENSMUST00000182014] [ENSMUST00000183018] [ENSMUST00000183278]

AlphaFold

P50405

Predicted Effect

probably damaging
Transcript: ENSMUST00000070437
AA Change: W9G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000066805
Gene: ENSMUSG00000056370
AA Change: W9G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SAPA	27	60	1.27e-16	SMART
SapB	66	142	4.21e-21	SMART
low complexity region	159	182	N/A	INTRINSIC
SapB	197	267	7.13e-10	SMART
SapB	292	361	2.5e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182014
AA Change: W9G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138204
Gene: ENSMUSG00000056370
AA Change: W9G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SAPA	27	60	1.27e-16	SMART
SapB	66	142	4.21e-21	SMART
low complexity region	159	182	N/A	INTRINSIC
PDB:1DFW\|A	192	216	1e-7	PDB
Blast:SapB	197	234	3e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182765

SMART Domains

Protein: ENSMUSP00000138298
Gene: ENSMUSG00000056370

Domain	Start	End	E-Value	Type
low complexity region	5	28	N/A	INTRINSIC
Blast:SapB	43	91	1e-20	BLAST
PDB:2JOU\|A	45	92	1e-7	PDB
SapB	116	185	2.5e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000183018
AA Change: W9G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138695
Gene: ENSMUSG00000056370
AA Change: W9G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SAPA	27	60	1.27e-16	SMART
SapB	66	142	4.21e-21	SMART
low complexity region	159	182	N/A	INTRINSIC
Blast:SapB	197	245	3e-19	BLAST
PDB:2JOU\|A	199	246	3e-7	PDB
SapB	270	339	2.5e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183278
AA Change: W9G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138485
Gene: ENSMUSG00000056370
AA Change: W9G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SAPA	27	60	1.27e-16	SMART
SapB	66	142	4.21e-21	SMART
low complexity region	159	182	N/A	INTRINSIC
PDB:1DFW\|A	192	216	1e-7	PDB
Blast:SapB	197	234	3e-15	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
PHENOTYPE: Inactivation of this gene results in respiratory failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,881,296 (GRCm39)	T482M	probably benign	Het
Adam9	A	G	8: 25,468,498 (GRCm39)	Y513H	probably damaging	Het
Adamts20	C	T	15: 94,222,540 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,588,759 (GRCm39)	D326G	probably damaging	Het
Cacna1g	A	G	11: 94,354,243 (GRCm39)	I224T	probably damaging	Het
Ccdc18	A	G	5: 108,309,612 (GRCm39)	I402M	probably benign	Het
Cckar	A	T	5: 53,860,398 (GRCm39)	C73S	probably damaging	Het
Cdk13	C	T	13: 17,913,739 (GRCm39)	R880H	probably damaging	Het
Col1a1	A	G	11: 94,830,986 (GRCm39)	N218D	unknown	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp2c69	A	G	19: 39,831,365 (GRCm39)	F483L	probably benign	Het
Ddx60	A	G	8: 62,436,939 (GRCm39)	D963G	probably benign	Het
Dhx8	G	T	11: 101,628,513 (GRCm39)	A142S	unknown	Het
Dock7	C	T	4: 98,880,685 (GRCm39)	R926Q	probably damaging	Het
Dscaml1	C	T	9: 45,594,975 (GRCm39)	Q693*	probably null	Het
Dysf	G	A	6: 84,117,024 (GRCm39)	C1234Y	probably damaging	Het
Ercc1	G	A	7: 19,089,102 (GRCm39)		probably null	Het
Fam91a1	T	C	15: 58,314,766 (GRCm39)	L549P	probably damaging	Het
Fxyd2	T	A	9: 45,314,592 (GRCm39)	Y5N	possibly damaging	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Gpr182	T	A	10: 127,586,375 (GRCm39)	D192V	possibly damaging	Het
Gps1	T	C	11: 120,678,548 (GRCm39)	V286A	possibly damaging	Het
Grk1	A	G	8: 13,463,127 (GRCm39)	Y383C	probably damaging	Het
H2bc15	T	C	13: 21,938,656 (GRCm39)	Y122H	probably benign	Het
Hic1	G	A	11: 75,057,143 (GRCm39)	P582L	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Khdc4	T	C	3: 88,607,279 (GRCm39)	F328L	probably benign	Het
Lactb	T	C	9: 66,877,927 (GRCm39)	K301E	possibly damaging	Het
Lrp3	A	T	7: 34,903,593 (GRCm39)	V251E	probably benign	Het
Mapt	G	A	11: 104,189,824 (GRCm39)	G265S	probably benign	Het
Obscn	A	T	11: 58,925,956 (GRCm39)	D6245E	probably damaging	Het
Or10al2	G	T	17: 37,983,448 (GRCm39)	C178F	possibly damaging	Het
Or1j12	A	G	2: 36,342,617 (GRCm39)	S7G	probably damaging	Het
Or4b1c	T	A	2: 90,126,381 (GRCm39)	I275F	probably damaging	Het
Or4c10b	T	C	2: 89,711,206 (GRCm39)	L12P	probably damaging	Het
Or6c207	T	C	10: 129,104,890 (GRCm39)	T101A	probably benign	Het
Or7e165	T	A	9: 19,695,044 (GRCm39)	I205N	probably damaging	Het
Or7g19	T	C	9: 18,856,415 (GRCm39)	L157P	probably damaging	Het
Oxsm	A	T	14: 16,241,904 (GRCm38)	H288Q	probably benign	Het
Pcdh9	C	T	14: 93,253,278 (GRCm39)	M1128I	possibly damaging	Het
Pcdha8	T	C	18: 37,127,614 (GRCm39)	Y699H	probably damaging	Het
Pgk2	A	T	17: 40,518,459 (GRCm39)	I323N	probably benign	Het
Plin4	A	G	17: 56,410,264 (GRCm39)	V1216A	probably damaging	Het
Ppargc1a	T	C	5: 51,620,176 (GRCm39)		probably benign	Het
Prelp	A	T	1: 133,840,516 (GRCm39)	I322N	probably benign	Het
Prelp	A	T	1: 133,842,395 (GRCm39)	I250N	probably damaging	Het
Prss27	T	A	17: 24,261,882 (GRCm39)	C63*	probably null	Het
Rab38	G	A	7: 88,079,748 (GRCm39)	A47T	possibly damaging	Het
Rprd2	G	A	3: 95,681,531 (GRCm39)	A436V	probably benign	Het
Sacs	A	T	14: 61,442,808 (GRCm39)	N1618I	probably damaging	Het
Scp2	T	G	4: 107,962,337 (GRCm39)	S63R	probably benign	Het
Slco1a4	A	T	6: 141,780,415 (GRCm39)	L125*	probably null	Het
Sptlc1	T	C	13: 53,505,728 (GRCm39)		probably null	Het
Sub1	T	A	15: 11,986,560 (GRCm39)	M96L	probably benign	Het
Tanc1	T	C	2: 59,667,458 (GRCm39)	V1233A	probably benign	Het
Tmem140	A	T	6: 34,849,658 (GRCm39)	D58V	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,083,811 (GRCm39)	Y91H	probably benign	Het
Trap1	C	T	16: 3,861,856 (GRCm39)	R636H	possibly damaging	Het
Ttc14	A	G	3: 33,857,724 (GRCm39)	H275R	possibly damaging	Het
Tut7	T	A	13: 59,964,110 (GRCm39)		probably null	Het
Vps35l	T	C	7: 118,391,869 (GRCm39)	W494R	probably damaging	Het
Ypel1	A	G	16: 16,921,438 (GRCm39)		probably null	Het
Zbtb44	T	A	9: 30,975,510 (GRCm39)	I380N	possibly damaging	Het
Zswim5	T	C	4: 116,838,063 (GRCm39)	F798L	possibly damaging	Het

Other mutations in Sftpb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Sftpb	APN	6	72,286,845 (GRCm39)	missense	probably benign	0.03
IGL02013:Sftpb	APN	6	72,282,655 (GRCm39)	missense	probably benign	0.08
R1741:Sftpb	UTSW	6	72,282,797 (GRCm39)	missense	probably benign	0.03
R2159:Sftpb	UTSW	6	72,286,770 (GRCm39)	missense	probably damaging	1.00
R5108:Sftpb	UTSW	6	72,281,640 (GRCm39)	missense	probably damaging	1.00
R5315:Sftpb	UTSW	6	72,283,876 (GRCm39)	missense	probably benign	0.31
R5506:Sftpb	UTSW	6	72,281,651 (GRCm39)	missense	possibly damaging	0.46
R6622:Sftpb	UTSW	6	72,282,639 (GRCm39)	missense	possibly damaging	0.95
R7130:Sftpb	UTSW	6	72,282,808 (GRCm39)	missense	possibly damaging	0.89
R7342:Sftpb	UTSW	6	72,286,858 (GRCm39)	missense	probably benign	0.01
R7527:Sftpb	UTSW	6	72,282,048 (GRCm39)	missense	possibly damaging	0.69
R7644:Sftpb	UTSW	6	72,286,818 (GRCm39)	missense	probably benign	0.27
R9291:Sftpb	UTSW	6	72,286,880 (GRCm39)	nonsense	probably null
R9365:Sftpb	UTSW	6	72,284,189 (GRCm39)	nonsense	probably null
R9432:Sftpb	UTSW	6	72,283,843 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAAGGACTAGGAACCGACATC -3'
(R):5'- TTGCAAAGGAGTGGCCATTG -3'

Sequencing Primer
(F):5'- GACATCGGCCAGCACACG -3'
(R):5'- ACTAACTGTGACCTTGGATGAGGC -3'

Posted On

2018-05-24