Mutagenetix > Incidental Mutation

Incidental Mutation 'R6849:Fstl1'

534941

Institutional Source

Beutler Lab

Gene Symbol

Fstl1

Ensembl Gene

ENSMUSG00000022816

Gene Name

follistatin-like 1

Synonyms

TSC-36

MMRRC Submission

044953-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R6849 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37597417-37656878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37641521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 99 (K99R)

Ref Sequence

ENSEMBL: ENSMUSP00000110411 (fasta)

Gene Model

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

AlphaFold

Q62356

Predicted Effect

probably benign
Transcript: ENSMUST00000114763
AA Change: K99R

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110411
Gene: ENSMUSG00000022816
AA Change: K99R

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

Meta Mutation Damage Score

0.0848

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	G	T	8: 125,366,261 (GRCm39)	Q161K	probably damaging	Het
4930578I06Rik	A	T	14: 64,223,687 (GRCm39)	W30R	probably damaging	Het
4930578I06Rik	G	T	14: 64,223,688 (GRCm39)	N29K	probably benign	Het
Aldh6a1	A	G	12: 84,490,561 (GRCm39)	V18A	probably benign	Het
Apoa5	A	G	9: 46,181,298 (GRCm39)	K125E	probably benign	Het
Atosa	A	C	9: 74,916,594 (GRCm39)	N398H	probably damaging	Het
Bphl	T	A	13: 34,234,252 (GRCm39)		probably null	Het
C2cd3	T	A	7: 100,056,134 (GRCm39)	V514E	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Cep192	A	G	18: 67,945,506 (GRCm39)	D202G	probably benign	Het
Chd5	A	T	4: 152,462,995 (GRCm39)	N1420Y	probably damaging	Het
Cnot10	A	T	9: 114,461,004 (GRCm39)	D55E	probably benign	Het
Cntn1	T	A	15: 92,203,127 (GRCm39)	I803N	probably damaging	Het
Col7a1	G	T	9: 108,804,121 (GRCm39)	V2217L	unknown	Het
Cpne9	T	G	6: 113,279,079 (GRCm39)	V491G	probably damaging	Het
Cracd	C	A	5: 77,004,857 (GRCm39)	A406E	unknown	Het
Cracd	C	T	5: 77,005,004 (GRCm39)	A455V	unknown	Het
Csnk2a1	C	A	2: 152,092,484 (GRCm39)	H18Q	probably benign	Het
D130040H23Rik	T	A	8: 69,755,303 (GRCm39)	Y253*	probably null	Het
Dnah14	A	T	1: 181,636,510 (GRCm39)	M4321L	probably benign	Het
Dnah5	A	G	15: 28,278,770 (GRCm39)	T1122A	probably benign	Het
Eif4g1	A	G	16: 20,499,495 (GRCm39)	I515V	probably benign	Het
Fbn1	T	C	2: 125,163,611 (GRCm39)	K2082E	possibly damaging	Het
Gar1	T	C	3: 129,623,038 (GRCm39)	N117S	probably damaging	Het
Gm3238	A	T	10: 77,606,744 (GRCm39)		probably benign	Het
Gm32742	C	T	9: 51,050,014 (GRCm39)	M1528I	probably benign	Het
H2-T3	T	C	17: 36,500,697 (GRCm39)	I49V	probably benign	Het
Hyou1	A	G	9: 44,298,561 (GRCm39)	I581V	probably damaging	Het
Itk	T	C	11: 46,222,762 (GRCm39)	N563S	probably damaging	Het
Lingo1	A	G	9: 56,526,900 (GRCm39)	L563P	probably damaging	Het
Lipc	A	G	9: 70,726,129 (GRCm39)		probably null	Het
Map4k3	A	C	17: 80,937,842 (GRCm39)		probably null	Het
Mctp2	C	T	7: 71,861,466 (GRCm39)	C393Y	probably damaging	Het
Mei1	T	A	15: 81,964,146 (GRCm39)	L229M	possibly damaging	Het
Or13g1	T	C	7: 85,956,248 (GRCm39)	I24M	possibly damaging	Het
Or9i2	G	T	19: 13,816,203 (GRCm39)	C111*	probably null	Het
Pcnx2	A	G	8: 126,587,949 (GRCm39)	V833A	probably damaging	Het
Pde8b	T	C	13: 95,184,307 (GRCm39)	N388D	possibly damaging	Het
Pi4ka	G	A	16: 17,121,285 (GRCm39)	A1197V	possibly damaging	Het
Psd	A	G	19: 46,306,185 (GRCm39)	Y36H	probably damaging	Het
Scn8a	T	A	15: 100,853,468 (GRCm39)		probably null	Het
Shisa6	A	G	11: 66,416,327 (GRCm39)	V155A	probably benign	Het
Slc45a3	T	A	1: 131,905,702 (GRCm39)	C242S	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tmc3	T	A	7: 83,235,565 (GRCm39)	I54K	probably damaging	Het
Tmprss11g	T	A	5: 86,644,491 (GRCm39)	I118F	probably benign	Het
Ttn	T	A	2: 76,744,687 (GRCm39)	D5454V	possibly damaging	Het
Ube2f	A	G	1: 91,181,935 (GRCm39)		probably null	Het
Ubr7	T	C	12: 102,724,342 (GRCm39)	S19P	probably damaging	Het
Vav3	T	C	3: 109,428,782 (GRCm39)	V371A	probably damaging	Het
Vmn2r28	A	G	7: 5,483,806 (GRCm39)	V798A	probably damaging	Het
Vmn2r95	T	G	17: 18,664,181 (GRCm39)	C467G	probably damaging	Het
Vmn2r95	G	T	17: 18,664,182 (GRCm39)	C467F	probably damaging	Het
Vps13b	A	G	15: 35,905,455 (GRCm39)	D3325G	probably damaging	Het
Wnk2	T	C	13: 49,220,834 (GRCm39)	T1158A	probably damaging	Het
Zfp616	T	A	11: 73,976,276 (GRCm39)	N848K	possibly damaging	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
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'- TGTCCACAGGCAGACATCCTTAG -3'
(R):5'- TGACCCACAGATGACCTTGG -3'

Sequencing Primer
(F):5'- ACAGGACCTGAGTTCAGTTTCCAG -3'
(R):5'- TGACCTTGGCAGCTCAATAG -3'

Posted On

2018-09-12