Mutagenetix > Incidental Mutation

Incidental Mutation 'R5108:Sftpb'

393667

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

042696-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.663) question?

Stock #

R5108 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

72281594-72291354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72281640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 11 (L11R)

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: L11R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066805
Gene: ENSMUSG00000056370
AA Change: L11R

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

probably damaging
Transcript: ENSMUST00000182014
AA Change: L11R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138204
Gene: ENSMUSG00000056370
AA Change: L11R

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: L11R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138695
Gene: ENSMUSG00000056370
AA Change: L11R

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

probably damaging
Transcript: ENSMUST00000183278
AA Change: L11R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138485
Gene: ENSMUSG00000056370
AA Change: L11R

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

Meta Mutation Damage Score

0.5360

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (79/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,094,207 (GRCm39)	N94Y	probably damaging	Het
Ak2	A	G	4: 128,896,034 (GRCm39)	T104A	probably damaging	Het
Alox12b	G	T	11: 69,048,208 (GRCm39)	A46S	probably benign	Het
Ank1	G	T	8: 23,622,571 (GRCm39)	V1662F	probably benign	Het
Anxa3	T	C	5: 96,978,273 (GRCm39)	I219T	possibly damaging	Het
Aoc1l3	C	T	6: 48,965,504 (GRCm39)	T504I	probably damaging	Het
Arhgap40	G	A	2: 158,389,599 (GRCm39)	V588M	probably damaging	Het
Arhgef38	T	C	3: 132,843,029 (GRCm39)	T514A	probably benign	Het
Ascl4	C	A	10: 85,764,422 (GRCm39)	A23E	probably benign	Het
Bcl11b	T	C	12: 107,931,985 (GRCm39)	T196A	probably benign	Het
C1ra	A	T	6: 124,499,881 (GRCm39)	Y689F	probably damaging	Het
Ccr3	A	G	9: 123,828,968 (GRCm39)	N101S	probably benign	Het
Cep70	A	T	9: 99,145,865 (GRCm39)		probably null	Het
Ces1b	A	G	8: 93,798,541 (GRCm39)	V215A	probably damaging	Het
Cndp1	A	T	18: 84,650,186 (GRCm39)	I169N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo2	A	G	4: 148,250,486 (GRCm39)	Q275R	probably damaging	Het
Fbxo44	T	C	4: 148,243,020 (GRCm39)	N133S	probably damaging	Het
Fzr1	C	T	10: 81,205,284 (GRCm39)		probably benign	Het
Grn	T	C	11: 102,325,228 (GRCm39)	S213P	probably benign	Het
Ifi203	A	T	1: 173,751,580 (GRCm39)	C414S	probably damaging	Het
Igfn1	C	T	1: 135,910,179 (GRCm39)	R135H	probably benign	Het
Kcnk10	T	C	12: 98,401,560 (GRCm39)	M358V	probably benign	Het
Kcnn2	A	T	18: 45,725,122 (GRCm39)	Y471F	probably damaging	Het
Klhl20	A	T	1: 160,926,820 (GRCm39)	V391E	probably damaging	Het
Krt1c	C	T	15: 101,721,721 (GRCm39)	G440D	possibly damaging	Het
Lpin1	A	T	12: 16,623,716 (GRCm39)	Y223N	probably benign	Het
Luzp2	G	A	7: 54,915,038 (GRCm39)	C321Y	probably damaging	Het
Mcm3ap	T	C	10: 76,338,536 (GRCm39)	V1388A	probably benign	Het
Mdga2	A	T	12: 66,533,515 (GRCm39)	H223Q	probably benign	Het
Mgat4e	G	T	1: 134,468,961 (GRCm39)	P361Q	probably benign	Het
Mylk3	A	T	8: 86,085,721 (GRCm39)	I208N	possibly damaging	Het
Myom2	T	A	8: 15,182,667 (GRCm39)	V1368E	probably damaging	Het
Mypn	C	T	10: 62,972,073 (GRCm39)	D656N	probably damaging	Het
Nat10	C	A	2: 103,562,548 (GRCm39)	R596L	probably damaging	Het
Nek8	T	C	11: 78,063,353 (GRCm39)	D137G	probably damaging	Het
Neurl1a	A	G	19: 47,246,074 (GRCm39)	K552E	probably damaging	Het
Npdc1	C	T	2: 25,298,667 (GRCm39)	H260Y	probably damaging	Het
Nuggc	A	T	14: 65,876,129 (GRCm39)	I581F	probably damaging	Het
Or8d23	T	A	9: 38,842,151 (GRCm39)	I228N	probably damaging	Het
P2rx6	T	C	16: 17,380,037 (GRCm39)	Y54H	probably damaging	Het
Pcmtd2	A	G	2: 181,486,216 (GRCm39)	E112G	probably damaging	Het
Pcnx4	G	A	12: 72,620,855 (GRCm39)	V892I	probably benign	Het
Pdss1	T	A	2: 22,796,895 (GRCm39)	V136E	possibly damaging	Het
Pias3	T	C	3: 96,612,253 (GRCm39)	L561P	possibly damaging	Het
Pomgnt1	G	A	4: 116,013,453 (GRCm39)		probably benign	Het
Scn2a	C	T	2: 65,518,974 (GRCm39)	T400I	probably damaging	Het
Sec24d	T	A	3: 123,099,434 (GRCm39)		probably null	Het
Slc22a19	A	G	19: 7,688,536 (GRCm39)	I8T	probably benign	Het
Slc22a30	A	G	19: 8,363,790 (GRCm39)	S266P	probably damaging	Het
Slc36a2	C	A	11: 55,050,214 (GRCm39)	G465W	probably damaging	Het
Slc4a2	G	A	5: 24,644,331 (GRCm39)	M976I	probably damaging	Het
Smcr8	C	T	11: 60,670,696 (GRCm39)	Q615*	probably null	Het
Sobp	T	C	10: 43,036,815 (GRCm39)	E41G	probably damaging	Het
Spopfm1	C	T	3: 94,173,142 (GRCm39)	S50L	probably damaging	Het
Spz1	A	T	13: 92,711,554 (GRCm39)	C307*	probably null	Het
Sult1d1	C	T	5: 87,711,728 (GRCm39)		probably null	Het
Tas2r110	T	C	6: 132,845,668 (GRCm39)	M233T	probably damaging	Het
Tmc3	C	A	7: 83,269,156 (GRCm39)	S781R	probably damaging	Het
Tmem234	G	T	4: 129,495,730 (GRCm39)		probably benign	Het
Trpm3	A	T	19: 22,882,078 (GRCm39)	Q645L	probably benign	Het
Ttn	C	A	2: 76,565,055 (GRCm39)	V28391F	probably damaging	Het
Txnrd3	G	T	6: 89,650,016 (GRCm39)	A425S	probably benign	Het
Ubr1	C	T	2: 120,793,903 (GRCm39)	G94R	probably benign	Het
Ufl1	A	G	4: 25,269,026 (GRCm39)		probably null	Het
Utp20	T	C	10: 88,604,735 (GRCm39)	D1720G	probably benign	Het
Vmn1r13	T	A	6: 57,186,901 (GRCm39)	M20K	probably benign	Het
Vmn1r61	A	G	7: 5,613,519 (GRCm39)	I265T	probably benign	Het
Zfp120	T	C	2: 149,961,862 (GRCm39)	T29A	probably 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
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
R6415:Sftpb	UTSW	6	72,281,633 (GRCm39)	missense	probably damaging	0.96
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'- TTCATTGCAAAGGAGTGGCC -3'

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

Posted On

2016-06-15