Mutagenetix > Incidental Mutation

Incidental Mutation 'R4080:Fstl1'

500484

Institutional Source

Beutler Lab

Gene Symbol

Fstl1

Ensembl Gene

ENSMUSG00000022816

Gene Name

follistatin-like 1

Synonyms

TSC-36

MMRRC Submission

040856-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37597417-37656878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37642965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 110 (V110I)

Ref Sequence

ENSEMBL: ENSMUSP00000110411 (fasta)

Gene Model

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

AlphaFold

Q62356

Predicted Effect

probably benign
Transcript: ENSMUST00000114763
AA Change: V110I

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110411
Gene: ENSMUSG00000022816
AA Change: V110I

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: ENSMUST00000123077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135668

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Adam7	T	C	14: 68,757,988 (GRCm39)	T245A	probably benign	Het
Adgrf3	G	A	5: 30,402,367 (GRCm39)	Q554*	probably null	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Arhgef1	G	T	7: 24,625,271 (GRCm39)	D850Y	probably damaging	Het
Aspm	C	A	1: 139,398,493 (GRCm39)	Q1024K	probably damaging	Het
C7	T	C	15: 5,019,946 (GRCm39)	S734G	probably benign	Het
Ccdc158	A	T	5: 92,771,255 (GRCm39)	S987T	probably benign	Het
Chrna2	C	A	14: 66,380,873 (GRCm39)	Y47*	probably null	Het
Chrna2	G	T	14: 66,380,866 (GRCm39)	G45V	probably benign	Het
Clec2g	C	A	6: 128,958,287 (GRCm39)	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,029,304 (GRCm39)	S253G	probably benign	Het
Cttn	T	A	7: 144,011,461 (GRCm39)	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,790,973 (GRCm39)	V286A	probably benign	Het
Dcbld2	T	A	16: 58,285,736 (GRCm39)	S632T	probably damaging	Het
Dscam	A	T	16: 96,484,972 (GRCm39)	N1118K	probably benign	Het
Eif2a	C	T	3: 58,447,050 (GRCm39)	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382 (GRCm39)	C1068S	probably benign	Het
Gpat2	T	C	2: 127,275,542 (GRCm39)	I465T	probably damaging	Het
Gpr137	C	T	19: 6,917,791 (GRCm39)		probably benign	Het
Hgsnat	A	G	8: 26,436,371 (GRCm39)	I561T	probably benign	Het
Ift74	T	A	4: 94,541,149 (GRCm39)		probably null	Het
Ilf3	A	G	9: 21,314,430 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc41	C	A	4: 115,937,743 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,923 (GRCm39)	R700L	possibly damaging	Het
Myo16	A	G	8: 10,612,240 (GRCm39)	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,873,559 (GRCm39)	M1488V	probably benign	Het
Naip6	A	T	13: 100,435,815 (GRCm39)	Y903N	probably damaging	Het
Nek6	A	G	2: 38,440,649 (GRCm39)	H19R	probably damaging	Het
Nktr	A	C	9: 121,570,192 (GRCm39)	T127P	probably damaging	Het
Noc4l	A	T	5: 110,797,738 (GRCm39)	D335E	probably benign	Het
Nsd1	A	G	13: 55,449,622 (GRCm39)	D1993G	probably damaging	Het
Or1ad1	G	A	11: 50,875,683 (GRCm39)	D52N	probably damaging	Het
Or5h22	A	T	16: 58,894,619 (GRCm39)	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,908,583 (GRCm39)	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,832 (GRCm39)	D127V	probably damaging	Het
Phrf1	T	C	7: 140,839,633 (GRCm39)		probably benign	Het
Phtf2	T	A	5: 21,018,294 (GRCm39)	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,624,755 (GRCm39)	R1200L	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Prss12	A	G	3: 123,279,134 (GRCm39)	N404D	probably benign	Het
Ptch2	C	G	4: 116,968,403 (GRCm39)	A926G	probably damaging	Het
Ptpra	T	C	2: 30,333,317 (GRCm39)	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293 (GRCm39)	I853T	possibly damaging	Het
Reep6	G	A	10: 80,165,996 (GRCm39)		probably benign	Het
Rex2	T	A	4: 147,143,154 (GRCm39)	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,222 (GRCm39)	E55K	probably damaging	Het
Rtl6	T	C	15: 84,441,202 (GRCm39)	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,354,859 (GRCm39)	P491Q	probably damaging	Het
Scfd1	A	G	12: 51,478,302 (GRCm39)	S505G	probably benign	Het
Scube1	T	G	15: 83,492,948 (GRCm39)	Q904P	probably damaging	Het
Sis	T	C	3: 72,828,517 (GRCm39)	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,648,329 (GRCm39)	E200G	probably damaging	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sybu	T	C	15: 44,582,339 (GRCm39)	K95R	probably damaging	Het
Trappc9	T	A	15: 72,813,796 (GRCm39)	D488V	probably damaging	Het
Txk	G	A	5: 72,858,006 (GRCm39)	P381S	probably damaging	Het
Ubr2	A	T	17: 47,299,648 (GRCm39)	M198K	probably benign	Het
Unc5a	A	T	13: 55,152,294 (GRCm39)	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,991,959 (GRCm39)	R231Q	probably damaging	Het
Wfdc1	T	A	8: 120,410,532 (GRCm39)		probably null	Het
Zfp667	T	G	7: 6,308,105 (GRCm39)	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	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
R2264:Fstl1	UTSW	16	37,597,653 (GRCm39)	splice site	probably benign
R3809:Fstl1	UTSW	16	37,647,113 (GRCm39)	missense	probably damaging	1.00
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'- CCTGGGGTAGACACATTTCTG -3'
(R):5'- AAGGAGCCCTGTGTCTTCTG -3'

Sequencing Primer
(F):5'- GTACTCTGGTGCAATAGCCCTG -3'
(R):5'- AGAAGATGGCGCCCTCCTTTC -3'

Posted On

2017-12-01