Mutagenetix > Incidental Mutation

Incidental Mutation 'R6327:Fstl5'

510461

Institutional Source

Beutler Lab

Gene Symbol

Fstl5

Ensembl Gene

ENSMUSG00000034098

Gene Name

follistatin-like 5

Synonyms

9130207J01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R6327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76074270-76710019 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76707801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 723 (I723N)

Ref Sequence

ENSEMBL: ENSMUSP00000125393 (fasta)

Gene Model

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

AlphaFold

Q8BFR2

Predicted Effect

probably benign
Transcript: ENSMUST00000038364
AA Change: I723N

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: I723N

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: I723N

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: I723N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,558,692		probably null	Het
Birc6	C	A	17: 74,662,779	H383Q	probably damaging	Het
C2	C	A	17: 34,864,103	A431S	probably benign	Het
C3ar1	C	T	6: 122,850,146	V371M	probably damaging	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Ckap2l	A	G	2: 129,285,494	S255P	probably damaging	Het
Clca3a1	T	A	3: 144,730,797	I842F	probably benign	Het
Cmc2	G	T	8: 116,894,157	H28Q	probably damaging	Het
Col11a2	C	T	17: 34,043,317	P176L	probably benign	Het
Csmd3	T	C	15: 47,881,387	D1404G	probably damaging	Het
Dld	G	A	12: 31,332,191	P506S	probably benign	Het
Dsg3	T	C	18: 20,539,870	M866T	probably benign	Het
Ehd1	T	C	19: 6,298,345	I451T	possibly damaging	Het
Fosb	T	C	7: 19,307,227	T114A	probably benign	Het
Foxd4	T	A	19: 24,900,834	M1L	possibly damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Hdlbp	A	G	1: 93,429,464	S299P	possibly damaging	Het
Mast4	G	A	13: 102,761,382	R650C	probably damaging	Het
Micu3	A	G	8: 40,366,197	T306A	probably benign	Het
Mylk2	A	G	2: 152,913,693	Q259R	possibly damaging	Het
Nfkbiz	T	C	16: 55,821,962	N31S	probably damaging	Het
Nisch	A	T	14: 31,171,487		probably benign	Het
Nudt17	T	C	3: 96,707,764		probably benign	Het
Olfr1389	A	C	11: 49,431,001	H175P	probably damaging	Het
Olfr292	T	C	7: 86,694,552	V32A	probably benign	Het
Olfr541	T	C	7: 140,704,703	W151R	probably damaging	Het
Oprm1	A	C	10: 6,830,063	I242L	probably damaging	Het
Otud6b	A	G	4: 14,826,496		probably benign	Het
Pamr1	A	T	2: 102,642,174	D606V	probably damaging	Het
Pcf11	T	C	7: 92,659,609		probably benign	Het
Pom121l2	T	C	13: 21,982,332	S258P	probably damaging	Het
Rcsd1	T	A	1: 165,655,834	D196V	possibly damaging	Het
Sbf2	C	T	7: 110,441,552	R356Q	probably damaging	Het
Serpinf1	A	G	11: 75,413,905		probably null	Het
Slc22a30	T	G	19: 8,335,722		probably benign	Het
Strn4	G	T	7: 16,816,459	S36I	probably benign	Het
Taar6	A	G	10: 23,985,279	L123P	probably damaging	Het
Thbs1	G	T	2: 118,112,656	R5L	unknown	Het
Timp3	T	C	10: 86,345,786	Y174H	probably benign	Het
Trpm2	C	T	10: 77,932,227	V813M	probably damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vcan	A	T	13: 89,704,832	S670T	probably damaging	Het
Vmn1r65	A	T	7: 6,008,652	N194K	possibly 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
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
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'- TACTACTTCATAAGCTGCAAGGCTG -3'
(R):5'- AGGGCCAGTCTTCTGTCTTG -3'

Sequencing Primer
(F):5'- TTCATAAGCTGCAAGGCTGACATC -3'
(R):5'- CCAGTCTTCTGTCTTGAGAGG -3'

Posted On

2018-04-02