Mutagenetix > Incidental Mutation

Incidental Mutation 'R2264:Fstl1'

318112

Institutional Source

Beutler Lab

Gene Symbol

Fstl1

Ensembl Gene

ENSMUSG00000022816

Gene Name

follistatin-like 1

Synonyms

TSC-36

MMRRC Submission

040264-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.767) question?

Stock #

R2264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37597417-37656878 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 37597653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114763]

AlphaFold

Q62356

Predicted Effect

probably benign
Transcript: ENSMUST00000114763

SMART Domains

Protein: ENSMUSP00000110411
Gene: ENSMUSG00000022816

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
FOLN	28	51	6.8e-7	SMART
KAZAL	51	96	4.48e-16	SMART
low complexity region	99	110	N/A	INTRINSIC
EFh	146	173	5.43e1	SMART
EFh	195	223	5.08e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152579

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

94% (65/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, soft and enlarged trachea, cyanosis, primary atelectasis, lung epithelial cell hyperplasia, over-expanded bronchiole, impaired pneumocyte differentiation and maturation, and decreased surfactant production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,100 (GRCm39)	S1042P	probably damaging	Het
Armc1	C	T	3: 19,189,033 (GRCm39)	V211I	probably damaging	Het
B4galnt3	T	C	6: 120,180,771 (GRCm39)	*986W	probably null	Het
BC024139	T	A	15: 76,010,117 (GRCm39)	D105V	probably damaging	Het
BC049715	C	T	6: 136,817,434 (GRCm39)	Q225*	probably null	Het
Cadps2	T	C	6: 23,323,339 (GRCm39)	H1043R	probably benign	Het
Ccdc42	T	C	11: 68,478,477 (GRCm39)	V33A	probably benign	Het
Cldn1	A	G	16: 26,177,949 (GRCm39)	Y159H	probably damaging	Het
Cog6	A	T	3: 52,900,332 (GRCm39)	C476*	probably null	Het
Col14a1	T	G	15: 55,330,086 (GRCm39)		probably null	Het
Crisp1	C	T	17: 40,623,965 (GRCm39)	M1I	probably null	Het
Dip2b	T	A	15: 100,101,097 (GRCm39)	S1297T	probably benign	Het
Dlgap4	A	G	2: 156,543,383 (GRCm39)	E262G	probably benign	Het
Dnai7	A	G	6: 145,154,155 (GRCm39)		probably benign	Het
Dpp4	A	C	2: 62,208,583 (GRCm39)	V187G	possibly damaging	Het
F5	A	G	1: 164,021,971 (GRCm39)	D1482G	probably benign	Het
Fads6	T	A	11: 115,177,061 (GRCm39)	T132S	probably damaging	Het
Fat4	A	G	3: 38,944,571 (GRCm39)	I1155V	probably benign	Het
Fermt1	C	T	2: 132,757,110 (GRCm39)		probably null	Het
Get3	G	A	8: 85,751,887 (GRCm39)		probably benign	Het
Gm5089	T	C	14: 122,673,514 (GRCm39)	Y69C	unknown	Het
Gm9871	T	C	6: 101,773,201 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,779,831 (GRCm39)	S375P	probably damaging	Het
Gtf2h4	A	G	17: 35,979,556 (GRCm39)		probably benign	Het
Gtsf1	T	A	15: 103,328,391 (GRCm39)	N148I	possibly damaging	Het
Hexa	T	C	9: 59,462,660 (GRCm39)	S129P	probably damaging	Het
Iigp1	A	T	18: 60,523,738 (GRCm39)	E285D	probably benign	Het
Il23r	T	A	6: 67,403,651 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,419,581 (GRCm39)	K463R	probably benign	Het
Kcnd1	A	G	X: 7,690,323 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,756,407 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Lrp2	T	C	2: 69,312,710 (GRCm39)	D2526G	possibly damaging	Het
Map4	G	T	9: 109,910,525 (GRCm39)	G851C	probably damaging	Het
Mtmr11	A	T	3: 96,076,413 (GRCm39)	E456V	possibly damaging	Het
Muc13	G	A	16: 33,628,409 (GRCm39)		probably null	Het
Myo18a	C	A	11: 77,710,798 (GRCm39)		probably benign	Het
Nphp4	T	A	4: 152,587,465 (GRCm39)		probably benign	Het
Nrg3	T	C	14: 38,103,659 (GRCm39)	E445G	probably damaging	Het
Ntrk1	A	G	3: 87,686,941 (GRCm39)		probably null	Het
Or8b1	G	T	9: 38,399,351 (GRCm39)	V9L	possibly damaging	Het
Parp6	T	C	9: 59,531,288 (GRCm39)	S57P	probably damaging	Het
Pcdhb12	A	G	18: 37,569,858 (GRCm39)	N335D	probably damaging	Het
Pdzph1	T	C	17: 59,195,162 (GRCm39)		probably null	Het
Pea15a	C	T	1: 172,026,704 (GRCm39)	R79H	probably benign	Het
Pik3ca	A	C	3: 32,492,076 (GRCm39)	I225L	possibly damaging	Het
Pim3	T	A	15: 88,748,793 (GRCm39)	I270N	probably damaging	Het
Pkd1l1	T	A	11: 8,829,112 (GRCm39)	R1043S	probably damaging	Het
Plekhg6	A	G	6: 125,354,431 (GRCm39)	S70P	probably benign	Het
Ptpn13	T	A	5: 103,637,527 (GRCm39)	D138E	possibly damaging	Het
Rap1gap	T	C	4: 137,455,034 (GRCm39)	L354P	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sf3a1	T	A	11: 4,127,443 (GRCm39)	S590T	probably benign	Het
Slc14a2	T	C	18: 78,206,304 (GRCm39)		probably benign	Het
Slfn3	T	G	11: 83,103,798 (GRCm39)	I223S	probably benign	Het
Smarca1	C	T	X: 46,964,160 (GRCm39)	V331I	probably benign	Het
Soat1	A	G	1: 156,265,267 (GRCm39)		probably benign	Het
Tinagl1	A	G	4: 130,061,226 (GRCm39)	V308A	probably benign	Het
Tomm22	T	A	15: 79,555,488 (GRCm39)	Y78N	probably damaging	Het
Ttll1	T	C	15: 83,380,609 (GRCm39)	Y252C	probably damaging	Het
Ttn	C	T	2: 76,623,474 (GRCm39)	V15368I	probably benign	Het
Ubr4	T	C	4: 139,147,684 (GRCm39)		probably benign	Het
Wbp2	T	C	11: 115,970,424 (GRCm39)		probably null	Het
Xkr7	A	T	2: 152,896,177 (GRCm39)	I344F	probably damaging	Het
Zfp947	A	T	17: 22,364,919 (GRCm39)	C252S	probably benign	Het

Other mutations in Fstl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Fstl1	APN	16	37,647,175 (GRCm39)	missense	probably damaging	1.00
PIT4377001:Fstl1	UTSW	16	37,636,167 (GRCm39)	missense	probably benign	0.45
R0413:Fstl1	UTSW	16	37,641,516 (GRCm39)	critical splice acceptor site	probably null
R1325:Fstl1	UTSW	16	37,649,083 (GRCm39)	missense	probably damaging	0.99
R1816:Fstl1	UTSW	16	37,647,086 (GRCm39)	critical splice acceptor site	probably null
R3809:Fstl1	UTSW	16	37,647,113 (GRCm39)	missense	probably damaging	1.00
R4080:Fstl1	UTSW	16	37,642,965 (GRCm39)	missense	probably benign	0.05
R5351:Fstl1	UTSW	16	37,649,542 (GRCm39)	missense	probably damaging	0.98
R5601:Fstl1	UTSW	16	37,647,161 (GRCm39)	missense	probably benign	0.35
R6039:Fstl1	UTSW	16	37,641,538 (GRCm39)	missense	probably benign	0.18
R6039:Fstl1	UTSW	16	37,641,538 (GRCm39)	missense	probably benign	0.18
R6849:Fstl1	UTSW	16	37,641,521 (GRCm39)	missense	probably benign	0.10
R6983:Fstl1	UTSW	16	37,651,980 (GRCm39)	missense	probably benign	0.08
R7243:Fstl1	UTSW	16	37,647,088 (GRCm39)	missense	probably benign
R9170:Fstl1	UTSW	16	37,647,140 (GRCm39)	missense	probably damaging	0.99
R9752:Fstl1	UTSW	16	37,649,534 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTCGGAGCCTGGTGATAAG -3'
(R):5'- ATCCCACTCCATCGTAAGGC -3'

Sequencing Primer
(F):5'- TGGTGATAAGCGACGCTC -3'
(R):5'- TCCATCGTAAGGCTGGGG -3'

Posted On

2015-06-10