Mutagenetix > Incidental Mutation

Incidental Mutation 'R4194:Sfta2'

318505

Institutional Source

Beutler Lab

Gene Symbol

Sfta2

Ensembl Gene

ENSMUSG00000090509

Gene Name

surfactant associated 2

Synonyms

EG433102

MMRRC Submission

041025-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35960600-35961461 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 35939057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164502] [ENSMUST00000174521]

AlphaFold

E9PXB6

Predicted Effect

probably benign
Transcript: ENSMUST00000164502

SMART Domains

Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	26	39	N/A	INTRINSIC
low complexity region	42	59	N/A	INTRINSIC
low complexity region	76	144	N/A	INTRINSIC
low complexity region	149	578	N/A	INTRINSIC
low complexity region	580	653	N/A	INTRINSIC
low complexity region	655	1179	N/A	INTRINSIC
low complexity region	1183	1373	N/A	INTRINSIC
low complexity region	1383	1436	N/A	INTRINSIC
low complexity region	1438	1479	N/A	INTRINSIC
Pfam:Epiglycanin_C	1518	1605	3.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173759

Predicted Effect

probably null
Transcript: ENSMUST00000174521

SMART Domains

Protein: ENSMUSP00000134221
Gene: ENSMUSG00000090509

Domain	Start	End	E-Value	Type
Pfam:SFTA2	80	117	9.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174534

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 85,972,245 (GRCm39)		probably benign	Het
Adgrv1	C	A	13: 81,647,115 (GRCm39)	V3142F	probably damaging	Het
Alms1	C	T	6: 85,654,972 (GRCm39)	Q3173*	probably null	Het
Ankrd26	A	G	6: 118,500,639 (GRCm39)	F944S	probably benign	Het
Arhgap11a	G	T	2: 113,672,339 (GRCm39)	H210N	probably benign	Het
Brca1	T	C	11: 101,416,113 (GRCm39)	N674D	probably benign	Het
Bud13	T	A	9: 46,209,793 (GRCm39)	V634E	probably damaging	Het
Capn13	C	T	17: 73,646,479 (GRCm39)	M311I	possibly damaging	Het
Cdyl2	T	C	8: 117,305,903 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,720,501 (GRCm39)		probably null	Het
Col6a5	C	G	9: 105,823,113 (GRCm39)	E81D	unknown	Het
Ctbs	C	A	3: 146,156,368 (GRCm39)	H38N	probably benign	Het
Ctnnd1	T	C	2: 84,434,045 (GRCm39)	D897G	possibly damaging	Het
Cyp2d41-ps	T	C	15: 82,666,154 (GRCm39)		noncoding transcript	Het
Dnttip2	G	A	3: 122,074,410 (GRCm39)	E616K	probably damaging	Het
Epb41l5	A	T	1: 119,535,823 (GRCm39)	S348R	probably damaging	Het
Fam185a	A	G	5: 21,630,452 (GRCm39)	H96R	probably benign	Het
Fbxo11	T	C	17: 88,316,536 (GRCm39)	D279G	possibly damaging	Het
Gm3952	C	A	8: 129,486,346 (GRCm39)	G1578V	probably damaging	Het
Grb7	T	A	11: 98,345,881 (GRCm39)		probably benign	Het
Grik1	A	G	16: 87,743,616 (GRCm39)	V537A	probably benign	Het
H2-Eb2	T	A	17: 34,552,300 (GRCm39)	N48K	probably benign	Het
Kank3	A	G	17: 34,041,237 (GRCm39)		probably benign	Het
Kifap3	T	C	1: 163,743,394 (GRCm39)	S792P	probably benign	Het
Klhl35	A	T	7: 99,123,058 (GRCm39)		probably null	Het
Lpxn	T	C	19: 12,810,599 (GRCm39)	F348L	probably damaging	Het
Mef2d	A	G	3: 88,065,610 (GRCm39)	Y114C	possibly damaging	Het
Mfap3	T	A	11: 57,420,529 (GRCm39)	L170H	probably damaging	Het
Mical1	C	G	10: 41,357,624 (GRCm39)	F410L	possibly damaging	Het
Mppe1	G	A	18: 67,361,139 (GRCm39)	S206F	probably benign	Het
Myo9b	C	T	8: 71,812,268 (GRCm39)	A2013V	possibly damaging	Het
Phactr3	T	C	2: 177,924,902 (GRCm39)	V243A	possibly damaging	Het
Ppp4r4	T	C	12: 103,524,704 (GRCm39)	L92P	probably damaging	Het
Prss59	A	T	6: 40,898,005 (GRCm39)	V226E	probably damaging	Het
Rap1gds1	C	T	3: 138,664,851 (GRCm39)	D236N	probably damaging	Het
Rnf8	T	C	17: 29,850,642 (GRCm39)		probably benign	Het
Rpl31-ps17	C	T	12: 54,748,434 (GRCm39)		noncoding transcript	Het
Sipa1l2	T	A	8: 126,218,411 (GRCm39)	T309S	probably benign	Het
Sos1	T	C	17: 80,706,013 (GRCm39)	D1186G	probably benign	Het
Sptb	C	A	12: 76,659,784 (GRCm39)	V1039F	probably benign	Het
Sycp3	T	C	10: 88,299,237 (GRCm39)	V68A	probably benign	Het
Tas1r3	T	C	4: 155,947,442 (GRCm39)	E81G	probably damaging	Het
Ttc3	G	A	16: 94,223,136 (GRCm39)	R253H	probably damaging	Het
Ugt1a7c	A	G	1: 88,023,449 (GRCm39)	T203A	possibly damaging	Het
Vtcn1	A	T	3: 100,795,525 (GRCm39)	E164V	probably damaging	Het
Zan	T	C	5: 137,461,817 (GRCm39)	T1121A	unknown	Het
Zfp473	T	C	7: 44,381,676 (GRCm39)	I885V	probably benign	Het
Zfp990	A	T	4: 145,263,547 (GRCm39)		probably null	Het

Other mutations in Sfta2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Sfta2	APN	17	35,961,336 (GRCm39)	missense	possibly damaging	0.93
R1077:Sfta2	UTSW	17	35,961,019 (GRCm39)	intron	probably benign
R4578:Sfta2	UTSW	17	35,960,775 (GRCm39)	intron	probably benign
R4841:Sfta2	UTSW	17	35,960,773 (GRCm39)	intron	probably benign
R4842:Sfta2	UTSW	17	35,960,773 (GRCm39)	intron	probably benign
R5989:Sfta2	UTSW	17	35,960,672 (GRCm39)	intron	probably benign
R7409:Sfta2	UTSW	17	35,925,410 (GRCm39)	missense	unknown
R8140:Sfta2	UTSW	17	35,912,666 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTTCTCTCCAGACCGAGAAAGC -3'
(R):5'- AACCAGTGGCATCTGTCATCC -3'

Sequencing Primer
(F):5'- CGAGAAAGCCCCAATCATGAAG -3'
(R):5'- GGCATCTGTCATCCTGGCATG -3'

Posted On

2015-06-10