Mutagenetix > Incidental Mutations

Incidental Mutation 'R1765:Fstl5'

194262

Institutional Source

Beutler Lab

Gene Symbol

Fstl5

Ensembl Gene

ENSMUSG00000034098

Gene Name

follistatin-like 5

Synonyms

9130207J01Rik

MMRRC Submission

039797-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R1765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76074270-76710019 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76593476 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 404 (R404L)

Ref Sequence

ENSEMBL: ENSMUSP00000125393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038364] [ENSMUST00000160261] [ENSMUST00000162471]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038364
AA Change: R404L

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: R404L

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

possibly damaging
Transcript: ENSMUST00000160261
AA Change: R404L

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: R404L

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: ENSMUST00000162471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191664

Meta Mutation Damage Score

0.1694

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	C	4: 35,197,098	H322Q	probably damaging	Het
4933412E24Rik	G	T	15: 60,015,345	C415*	probably null	Het
A430105I19Rik	G	A	2: 118,760,647	A135V	probably benign	Het
Adamtsl2	A	C	2: 27,102,830	I652L	probably benign	Het
Adgrl4	T	C	3: 151,543,235	I720T	probably damaging	Het
Agrn	A	T	4: 156,176,827	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585		probably null	Het
B3galt2	C	A	1: 143,646,469	N114K	probably benign	Het
Bud23	A	T	5: 135,056,043	M59K	probably benign	Het
C3	C	T	17: 57,224,401		probably null	Het
Cc2d2a	A	T	5: 43,714,531	D903V	probably damaging	Het
Ccdc105	A	T	10: 78,748,668	M340K	probably benign	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Cdan1	A	C	2: 120,720,749	L1097V	probably damaging	Het
Cdc26	T	A	4: 62,394,918	N62I	probably benign	Het
Cdc27	G	T	11: 104,534,781	Q70K	probably damaging	Het
Cenpq	A	T	17: 40,924,287		probably null	Het
Cep295	T	C	9: 15,327,904	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,505,531	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,353,868	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,864,594	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,190,303	Q104*	probably null	Het
Dglucy	T	A	12: 100,850,102		probably null	Het
Dnajc9	A	G	14: 20,388,090	V148A	possibly damaging	Het
Dnmbp	T	A	19: 43,902,140	D396V	possibly damaging	Het
Dock10	T	A	1: 80,605,823	I221F	probably damaging	Het
Dscam	T	C	16: 96,685,379	N1032S	probably benign	Het
Dsg4	A	C	18: 20,456,831	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,249,415	H417R	probably benign	Het
Dysf	G	A	6: 84,190,902		probably null	Het
Elovl1	A	G	4: 118,430,510	M1V	probably null	Het
Eva1c	A	G	16: 90,904,247	S257G	probably benign	Het
Eya2	A	T	2: 165,724,803	D258V	probably damaging	Het
Fam193a	A	G	5: 34,436,497	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Glud1	T	C	14: 34,325,584		probably benign	Het
Gm10770	A	C	2: 150,179,338	H86Q	probably damaging	Het
Gm13757	A	T	2: 88,446,023	F305Y	probably damaging	Het
Gm5724	T	C	6: 141,754,358		probably benign	Het
Gzme	C	T	14: 56,118,414	G147D	probably damaging	Het
Herc3	T	C	6: 58,888,660	V746A	probably damaging	Het
Hmga1	A	G	17: 27,559,618	E17G	probably damaging	Het
Kdelr2	A	T	5: 143,420,812	K206*	probably null	Het
Kng2	A	G	16: 22,988,243		probably null	Het
Lrrc41	G	A	4: 116,089,051	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 131,058,761	M1K	probably null	Het
Me2	A	G	18: 73,791,858	F263L	probably damaging	Het
Mkks	A	G	2: 136,880,367	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772	I255N	probably damaging	Het
Mogs	A	G	6: 83,116,803	D251G	probably benign	Het
Morf4l1	T	A	9: 90,102,348	Y65F	possibly damaging	Het
Neb	T	C	2: 52,204,664	D5169G	probably damaging	Het
Nin	A	G	12: 70,042,891	L1250P	probably damaging	Het
Nomo1	G	T	7: 46,066,293	G721V	possibly damaging	Het
Notch2	T	G	3: 98,121,926	C1002G	probably damaging	Het
Npat	T	C	9: 53,570,222	Y1077H	probably benign	Het
Olfr1284	G	A	2: 111,379,146	V49I	probably benign	Het
Olfr193	A	G	16: 59,109,755	L285P	probably damaging	Het
Olfr376	T	A	11: 73,375,344	N198K	probably damaging	Het
Olfr894	T	C	9: 38,219,252	I143T	probably benign	Het
Otop2	A	T	11: 115,324,678	I142F	probably benign	Het
Pacsin3	A	G	2: 91,263,115	E279G	possibly damaging	Het
Pafah2	A	G	4: 134,413,447	T243A	probably benign	Het
Pcdhgc5	A	G	18: 37,821,860	H729R	probably benign	Het
Plcd1	T	C	9: 119,071,806	D756G	probably damaging	Het
Prune2	A	G	19: 17,125,598	E2707G	probably damaging	Het
Rit2	C	T	18: 31,316,898	G16S	probably damaging	Het
Sec24c	A	G	14: 20,688,854		probably benign	Het
Skint5	G	T	4: 113,577,661	T1037K	unknown	Het
Slc28a2	T	A	2: 122,460,395		probably null	Het
Slc41a2	G	A	10: 83,301,266	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,473,579	I537F	possibly damaging	Het
Smchd1	A	T	17: 71,400,201		probably benign	Het
Smg1	T	C	7: 118,139,715	I3489V	probably benign	Het
Sytl3	T	C	17: 6,699,683	L142P	probably damaging	Het
Tfr2	C	T	5: 137,583,445	T598I	probably damaging	Het
Tmc2	A	G	2: 130,260,225	Q770R	probably benign	Het
Tnc	C	T	4: 64,013,994	V728M	probably damaging	Het
Trim68	A	T	7: 102,680,390	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,559,188	D325G	probably benign	Het
Ube3a	C	T	7: 59,286,114	T582I	probably damaging	Het
Usp13	G	A	3: 32,915,770	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,161,269	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,637,496	M86K	probably damaging	Het
Vsig10	A	G	5: 117,318,815		probably benign	Het
Zbtb41	T	A	1: 139,440,394	C607S	probably benign	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
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
R7100:Fstl5	UTSW	3	76536293	missense	probably benign	0.11
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

Predicted Primers

PCR Primer
(F):5'- TGCAAACACTTGAGAGCCTCTGG -3'
(R):5'- ACTCCTGTACTGCTGCTGATGCTG -3'

Sequencing Primer
(F):5'- CTGGAGCAATTTGGCATATCTC -3'
(R):5'- CATGTTGCAAATGGCAAAGCAC -3'

Posted On

2014-05-23