Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Fstl5'

550750

Institutional Source

Beutler Lab

Gene Symbol

Fstl5

Ensembl Gene

ENSMUSG00000034098

Gene Name

follistatin-like 5

Synonyms

9130207J01Rik

MMRRC Submission

045192-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76074270-76710019 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76536293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 315 (H315R)

Ref Sequence

ENSEMBL: ENSMUSP00000038506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038364] [ENSMUST00000160261]

AlphaFold

Q8BFR2

Predicted Effect

probably benign
Transcript: ENSMUST00000038364
AA Change: H315R

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: H315R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
KAZAL	88	133	2.16e-9	SMART
IGc2	261	328	1.11e-5	SMART
IGc2	353	420	3.85e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160261
AA Change: H315R

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: H315R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
KAZAL	88	133	2.16e-9	SMART
IGc2	261	328	1.11e-5	SMART
IGc2	353	420	3.85e-14	SMART

Meta Mutation Damage Score

0.6335

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,552,395	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,270,897	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,537,074		probably null	Het
Amph	T	C	13: 19,149,841	*691Q	probably null	Het
Ankrd55	A	G	13: 112,356,110	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,516,815	V838I	possibly damaging	Het
Arl2	C	A	19: 6,134,744	V160F	probably benign	Het
BC067074	T	A	13: 113,318,967	F516I		Het
Catsperb	T	C	12: 101,446,038	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,625,593	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,596,114	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 132,054,815	A573T	probably benign	Het
Daxx	T	C	17: 33,911,442	S144P	probably damaging	Het
Dpp3	T	C	19: 4,918,041	D303G	probably damaging	Het
Fam126b	T	A	1: 58,534,494	T384S	possibly damaging	Het
Fam181a	T	A	12: 103,315,873	N12K	probably damaging	Het
Flg2	A	T	3: 93,203,711	R1015S	unknown	Het
Fut4	A	G	9: 14,751,393	S202P	probably damaging	Het
Gm5114	T	C	7: 39,408,284	D637G	possibly damaging	Het
Gstcd	G	T	3: 133,084,943	T21K	probably benign	Het
Heca	C	T	10: 17,915,373	V312M	probably benign	Het
Herpud1	A	G	8: 94,390,847	R144G	probably damaging	Het
Hrasls5	T	A	19: 7,639,558	F313I	unknown	Het
Ino80	A	G	2: 119,374,513	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 126,591,733	T365A	probably benign	Het
Klk1	G	A	7: 44,229,424	G214E	probably damaging	Het
Lama3	A	T	18: 12,582,644	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,484,990	I365T	probably damaging	Het
Lrp8	C	A	4: 107,802,450	A13E	possibly damaging	Het
Ly75	A	G	2: 60,306,434	L1483P	probably benign	Het
Mid1	A	G	X: 169,985,077	D407G	probably benign	Het
Mpl	G	T	4: 118,457,410	A21E		Het
Mus81	C	T	19: 5,484,211	G360S	probably damaging	Het
Nmt2	T	A	2: 3,312,913	S250T	probably benign	Het
Nr1d1	C	A	11: 98,771,334	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,050,714	P36S	unknown	Het
Pcnx2	G	A	8: 125,759,114	A1915V	probably benign	Het
Peak1	A	G	9: 56,259,393	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,604,840	N262S	probably benign	Het
Ppp2r5d	A	G	17: 46,685,682	V355A	probably benign	Het
Rasa3	T	C	8: 13,586,897	T395A	probably benign	Het
Rims1	T	A	1: 22,346,473	I432F	probably benign	Het
Rnf123	C	T	9: 108,056,639	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,238,311		probably benign	Het
Shank2	T	A	7: 144,411,164	D836E	possibly damaging	Het
Slc24a5	A	C	2: 125,080,671	S118R	probably damaging	Het
Smg1	G	T	7: 118,184,520	H1048N	unknown	Het
Specc1l	T	G	10: 75,245,495	S242A	probably benign	Het
Tagap1	A	T	17: 6,956,712	L195Q	possibly damaging	Het
Tmem57	T	C	4: 134,806,660	D550G	probably damaging	Het
Trpc3	C	A	3: 36,650,067	E580D	probably benign	Het
Ttn	A	T	2: 76,710,822	V33940E	probably benign	Het
Upp2	G	T	2: 58,791,805	R318L	probably benign	Het
Vezt	T	A	10: 93,996,933	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,866,110	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,581,586	E769*	probably null	Het
Vnn3	T	C	10: 23,865,942	Y382H	probably damaging	Het

Other mutations in Fstl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01632:Fstl5	APN	3	76707828	missense	probably benign	0.30
IGL01658:Fstl5	APN	3	76482255	missense	possibly damaging	0.70
IGL01917:Fstl5	APN	3	76707846	missense	probably damaging	1.00
IGL02073:Fstl5	APN	3	76659652	splice site	probably benign
IGL02329:Fstl5	APN	3	76588995	missense	probably damaging	1.00
IGL02651:Fstl5	APN	3	76593534	missense	probably damaging	1.00
IGL02967:Fstl5	APN	3	76322191	missense	probably damaging	1.00
IGL03004:Fstl5	APN	3	76648431	splice site	probably benign
IGL03107:Fstl5	APN	3	76536311	missense	probably damaging	1.00
IGL03113:Fstl5	APN	3	76429792	nonsense	probably null
P0038:Fstl5	UTSW	3	76145062	missense	probably damaging	1.00
PIT4131001:Fstl5	UTSW	3	76659699	missense	probably damaging	0.99
R0015:Fstl5	UTSW	3	76322191	missense	probably damaging	1.00
R0015:Fstl5	UTSW	3	76322191	missense	probably damaging	1.00
R0032:Fstl5	UTSW	3	76648435	splice site	probably benign
R0032:Fstl5	UTSW	3	76648435	splice site	probably benign
R0078:Fstl5	UTSW	3	76659645	splice site	probably benign
R0137:Fstl5	UTSW	3	76707479	missense	probably damaging	1.00
R0183:Fstl5	UTSW	3	76322272	missense	possibly damaging	0.86
R0330:Fstl5	UTSW	3	76707753	missense	possibly damaging	0.80
R0427:Fstl5	UTSW	3	76707727	nonsense	probably null
R0687:Fstl5	UTSW	3	76707812	missense	possibly damaging	0.62
R1642:Fstl5	UTSW	3	76410622	missense	possibly damaging	0.80
R1765:Fstl5	UTSW	3	76593476	missense	possibly damaging	0.90
R1900:Fstl5	UTSW	3	76708160	missense	probably damaging	1.00
R1996:Fstl5	UTSW	3	76707834	missense	probably benign	0.19
R2157:Fstl5	UTSW	3	76708065	missense	possibly damaging	0.46
R2228:Fstl5	UTSW	3	76482352	missense	probably damaging	1.00
R2851:Fstl5	UTSW	3	76429738	splice site	probably benign
R4021:Fstl5	UTSW	3	76628975	missense	probably benign	0.00
R4086:Fstl5	UTSW	3	76648286	missense	probably damaging	1.00
R4777:Fstl5	UTSW	3	76593500	missense	probably damaging	1.00
R4829:Fstl5	UTSW	3	76322182	missense	probably damaging	1.00
R4934:Fstl5	UTSW	3	76588965	missense	probably damaging	1.00
R4955:Fstl5	UTSW	3	76223876	critical splice donor site	probably null
R4977:Fstl5	UTSW	3	76410494	nonsense	probably null
R5166:Fstl5	UTSW	3	76628960	missense	possibly damaging	0.86
R5232:Fstl5	UTSW	3	76144977	missense	possibly damaging	0.89
R5313:Fstl5	UTSW	3	76593505	missense	possibly damaging	0.90
R5584:Fstl5	UTSW	3	76322267	missense	probably damaging	1.00
R5647:Fstl5	UTSW	3	76589092	missense	probably damaging	1.00
R5842:Fstl5	UTSW	3	76322283	missense	possibly damaging	0.94
R5978:Fstl5	UTSW	3	76145085	missense	probably damaging	1.00
R6007:Fstl5	UTSW	3	76410592	missense	probably damaging	1.00
R6064:Fstl5	UTSW	3	76322298	missense	probably benign	0.13
R6327:Fstl5	UTSW	3	76707801	missense	probably benign	0.31
R6386:Fstl5	UTSW	3	76322066	missense	probably benign	0.13
R6523:Fstl5	UTSW	3	76536334	missense	probably benign	0.00
R6852:Fstl5	UTSW	3	76707855	missense	probably damaging	1.00
R6861:Fstl5	UTSW	3	76322216	missense	probably damaging	1.00
R6866:Fstl5	UTSW	3	76322225	missense	probably damaging	0.99
R7341:Fstl5	UTSW	3	76482397	splice site	probably null
R7495:Fstl5	UTSW	3	76707792	missense	possibly damaging	0.85
R7558:Fstl5	UTSW	3	76429785	missense	possibly damaging	0.95
R7731:Fstl5	UTSW	3	76661762	missense	probably damaging	1.00
R7787:Fstl5	UTSW	3	76429824	missense	probably damaging	1.00
R7852:Fstl5	UTSW	3	76707968	missense	probably benign	0.00
R7874:Fstl5	UTSW	3	76661786	missense	probably benign	0.10
R7881:Fstl5	UTSW	3	76536298	missense	probably damaging	1.00
R7986:Fstl5	UTSW	3	76429790	missense	probably damaging	0.98
R8039:Fstl5	UTSW	3	76648418	missense	possibly damaging	0.69
R8050:Fstl5	UTSW	3	76707503	missense	probably benign	0.00
R8844:Fstl5	UTSW	3	76429847	missense	possibly damaging	0.71
R8929:Fstl5	UTSW	3	76707831	missense	probably damaging	0.98
R9012:Fstl5	UTSW	3	76659720	missense	probably damaging	1.00
R9069:Fstl5	UTSW	3	76708109	missense	probably damaging	0.99
R9221:Fstl5	UTSW	3	76661807	missense	probably damaging	0.98
R9373:Fstl5	UTSW	3	76648362	nonsense	probably null
R9427:Fstl5	UTSW	3	76322276	missense
R9490:Fstl5	UTSW	3	76707753	missense	possibly damaging	0.80
R9603:Fstl5	UTSW	3	76588953	missense	probably damaging	1.00
Z1176:Fstl5	UTSW	3	76707982	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATGGAGTATTTATCAGTGAAAGC -3'
(R):5'- GTGTTAATCAGGTGGGATCTTAAAAG -3'

Sequencing Primer
(F):5'- TGCTCGTGAACATAAGTGA -3'
(R):5'- AGGTACTGTCTAGTCCACTG -3'

Posted On

2019-05-15