Mutagenetix > Incidental Mutation

Incidental Mutation 'R9752:Fstl1'

732600

Institutional Source

Beutler Lab

Gene Symbol

Fstl1

Ensembl Gene

ENSMUSG00000022816

Gene Name

follistatin-like 1

Synonyms

TSC-36

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.767) question?

Stock #

R9752 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37597417-37656878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37649534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 249 (N249K)

Ref Sequence

ENSEMBL: ENSMUSP00000110411 (fasta)

Gene Model

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

AlphaFold

Q62356

Predicted Effect

probably damaging
Transcript: ENSMUST00000114763
AA Change: N249K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110411
Gene: ENSMUSG00000022816
AA Change: N249K

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	C	T	6: 125,840,499 (GRCm39)	T390I	probably damaging	Het
Cc2d2b	T	C	19: 40,781,271 (GRCm39)	V772A	probably damaging	Het
Cd109	A	G	9: 78,614,834 (GRCm39)	I1294V	probably benign	Het
Cic	A	G	7: 24,971,403 (GRCm39)	E378G	probably damaging	Het
Clhc1	C	T	11: 29,507,778 (GRCm39)	P175L	probably benign	Het
Clip1	T	C	5: 123,760,009 (GRCm39)	E783G	probably damaging	Het
Cnot1	A	G	8: 96,488,019 (GRCm39)	Y546H	probably damaging	Het
Cog7	C	A	7: 121,580,639 (GRCm39)		probably null	Het
Cr2	T	C	1: 194,823,575 (GRCm39)	T1008A	probably benign	Het
Diaph1	T	C	18: 38,036,124 (GRCm39)	T196A	unknown	Het
Entr1	T	C	2: 26,276,990 (GRCm39)	N247D	probably benign	Het
Flg2	A	T	3: 93,108,467 (GRCm39)	D165V	probably damaging	Het
Gatad2a	A	G	8: 70,364,839 (GRCm39)	V515A	probably benign	Het
Gbp2b	A	T	3: 142,313,917 (GRCm39)	D399V	probably benign	Het
Gna14	G	A	19: 16,586,781 (GRCm39)	V319I	probably benign	Het
Grip1	A	G	10: 119,871,256 (GRCm39)	D661G	possibly damaging	Het
Gtf3c4	C	A	2: 28,724,126 (GRCm39)	L535F	probably damaging	Het
Haus8	A	C	8: 71,715,731 (GRCm39)	S36A	probably damaging	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hectd4	C	T	5: 121,472,415 (GRCm39)	A2717V	possibly damaging	Het
Hsf5	C	T	11: 87,513,709 (GRCm39)	T258M	probably benign	Het
Ifi209	A	T	1: 173,472,235 (GRCm39)	I359F	probably damaging	Het
Ighmbp2	A	G	19: 3,324,360 (GRCm39)	V302A	probably benign	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Itgav	T	A	2: 83,600,451 (GRCm39)		probably null	Het
Kcp	A	T	6: 29,497,754 (GRCm39)	D502E	probably damaging	Het
Kif15	T	C	9: 122,824,890 (GRCm39)		probably null	Het
Lipo2	C	G	19: 33,723,221 (GRCm39)	K189N	possibly damaging	Het
Lrch4	T	A	5: 137,636,218 (GRCm39)	S390T	probably benign	Het
Mast2	G	T	4: 116,179,508 (GRCm39)	H389N	probably benign	Het
Med13	A	G	11: 86,174,147 (GRCm39)	Y1784H	possibly damaging	Het
Micu3	A	G	8: 40,833,751 (GRCm39)	K462E	possibly damaging	Het
Mrps10	T	C	17: 47,683,572 (GRCm39)		probably null	Het
Msh6	T	C	17: 88,293,963 (GRCm39)	L906P	probably damaging	Het
Nphp4	A	G	4: 152,621,737 (GRCm39)	E531G	probably benign	Het
Nrp2	A	T	1: 62,851,726 (GRCm39)	Y825F	probably benign	Het
Ntn1	C	T	11: 68,276,712 (GRCm39)	V79M	possibly damaging	Het
Nxnl2	A	G	13: 51,325,507 (GRCm39)	D50G	probably damaging	Het
Or1e16	T	A	11: 73,286,479 (GRCm39)	Y123F	possibly damaging	Het
Or2t26	T	C	11: 49,039,681 (GRCm39)	M199T	probably benign	Het
Or52h9	A	T	7: 104,202,530 (GRCm39)	I135F	possibly damaging	Het
Or52r1c	T	A	7: 102,735,669 (GRCm39)	C310S	probably benign	Het
Or6c219	T	C	10: 129,780,990 (GRCm39)	R314G	probably benign	Het
Or7e176	G	A	9: 20,171,204 (GRCm39)	V23I	probably benign	Het
Ppp1r42	A	G	1: 10,073,674 (GRCm39)		probably benign	Het
Ppp4r3a	A	T	12: 101,008,763 (GRCm39)	N692K	probably benign	Het
Prr11	T	C	11: 86,994,416 (GRCm39)	T77A	possibly damaging	Het
Resf1	T	A	6: 149,228,068 (GRCm39)	N371K	probably benign	Het
Rrn3	A	G	16: 13,631,095 (GRCm39)	I644V	probably benign	Het
Scd4	T	C	19: 44,322,475 (GRCm39)	S23P	probably benign	Het
Slc26a2	T	A	18: 61,335,010 (GRCm39)	S148C	probably benign	Het
Slc7a8	T	C	14: 54,995,931 (GRCm39)	E157G	probably benign	Het
Spi1	A	G	2: 90,943,666 (GRCm39)	H70R	probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tlr4	A	G	4: 66,757,912 (GRCm39)	N235S	probably benign	Het
Trpc6	C	A	9: 8,643,641 (GRCm39)	S475R	probably benign	Het
Usp34	C	T	11: 23,409,182 (GRCm39)	P2674L	probably benign	Het
Usp48	G	A	4: 137,341,137 (GRCm39)	G379D	probably damaging	Het
Vkorc1l1	T	A	5: 130,011,078 (GRCm39)	C97*	probably null	Het
Wfikkn2	T	C	11: 94,129,211 (GRCm39)	E310G	probably benign	Het
Zfp266	T	A	9: 20,411,496 (GRCm39)	N227I	probably benign	Het
Zfp335	C	T	2: 164,749,347 (GRCm39)		probably null	Het
Zfp677	T	A	17: 21,618,511 (GRCm39)	C523S	probably damaging	Het
Zrsr2	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	X: 162,719,750 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- CCATGAGATACAAGGCCGTC -3'
(R):5'- CTGGGGTAATTGTCACACCTG -3'

Sequencing Primer
(F):5'- AGGCCGTCCTTGTCTGAGAAAG -3'
(R):5'- TGACATACCTGAAGCAAGTGC -3'

Posted On

2022-11-14