Mutagenetix > Incidental Mutations

Incidental Mutation 'R7558:Fstl5'

584877

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: 0.093) question?

Stock #

R7558 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76074270-76710019 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76429785 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 217 (T217I)

Ref Sequence

ENSEMBL: ENSMUSP00000038506 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038364
AA Change: T217I

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: T217I

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: T217I

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: T217I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	G	T	11: 23,516,285		probably null	Het
2410089E03Rik	C	T	15: 8,225,367	R13C	unknown	Het
Adgrg6	A	T	10: 14,431,607	M817K	probably damaging	Het
Adh6b	T	A	3: 138,352,536	D53E	probably benign	Het
Ap3d1	A	G	10: 80,722,921	V283A	possibly damaging	Het
Arhgap21	A	G	2: 20,855,610	Y1329H	probably damaging	Het
B3gnt9	T	C	8: 105,254,672	Y28C	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318		probably benign	Het
Chrd	T	A	16: 20,738,554	V641E	probably damaging	Het
Clvs2	A	T	10: 33,543,464	I198N	probably damaging	Het
Dbndd2	T	C	2: 164,490,216	S120P	probably benign	Het
Dsg2	G	A	18: 20,594,234	V613I	probably benign	Het
Dsp	A	G	13: 38,168,766	M207V	probably benign	Het
Fignl2	T	C	15: 101,054,383	E6G	probably damaging	Het
Fmod	A	G	1: 134,040,993	Y257C	probably benign	Het
Foxk2	T	C	11: 121,288,058	S239P	probably benign	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm45140	G	A	6: 87,821,529	S34F		Het
H2-Q6	A	G	17: 35,425,619	E128G	probably benign	Het
Hmmr	A	G	11: 40,733,329	F11L	probably damaging	Het
Igfbpl1	G	T	4: 45,813,497	N239K	probably damaging	Het
Itpr2	G	T	6: 146,390,865	D443E	probably damaging	Het
Kcnt2	A	T	1: 140,523,190	I736F	probably damaging	Het
Kctd11	A	T	11: 69,879,590	H207Q	probably benign	Het
Kif16b	A	T	2: 142,758,826	D462E	probably damaging	Het
Kif5a	G	A	10: 127,248,079	T81I	probably damaging	Het
Lemd2	C	A	17: 27,204,163	A86S	probably benign	Het
Lrp1b	T	C	2: 41,341,936	D1174G		Het
Lrrc8b	G	T	5: 105,481,711	W641L	probably damaging	Het
Malt1	T	C	18: 65,462,834	C438R	probably damaging	Het
March8	T	C	6: 116,403,565	F126L	possibly damaging	Het
Nalcn	C	A	14: 123,486,385		probably null	Het
Nyap2	A	T	1: 81,269,373	T679S	probably benign	Het
Olfr1469	T	A	19: 13,410,991	C141S	probably damaging	Het
Olfr503	C	G	7: 108,544,721	Y65*	probably null	Het
Otog	C	A	7: 46,303,160	P419Q	probably damaging	Het
Pabpc4	T	G	4: 123,294,620	S341A	possibly damaging	Het
Pikfyve	T	A	1: 65,272,623	H2006Q	probably benign	Het
Ppp2r5e	A	T	12: 75,464,992	V319D	probably damaging	Het
Ptk2b	T	C	14: 66,154,179	S969G	possibly damaging	Het
Rasal2	G	A	1: 157,175,836	R436C	probably damaging	Het
Rpap1	A	T	2: 119,771,254	F742I	probably benign	Het
Ryr2	G	A	13: 11,799,825	T687M	probably damaging	Het
Sec16a	A	T	2: 26,439,734	F7L		Het
Slc14a2	A	G	18: 78,192,119	I143T	probably benign	Het
Slc22a26	T	A	19: 7,785,286	M430L	possibly damaging	Het
Smarcc1	C	A	9: 110,147,116	T157K	probably damaging	Het
Tmem87a	A	G	2: 120,374,510	I375T	probably benign	Het
Tmprss15	T	C	16: 79,003,414	I609V	possibly damaging	Het
Tnk2	C	A	16: 32,680,085	Q739K	probably benign	Het
Trio	T	A	15: 27,831,394	I1340F	possibly damaging	Het
Trpm6	T	C	19: 18,778,665	F91L	probably damaging	Het
Vax1	T	C	19: 59,169,984	T16A	unknown	Het
Vps13d	T	G	4: 145,154,580	H1481P		Het
Zbtb7a	A	G	10: 81,148,435	*570W	probably null	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
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
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
Z1176:Fstl5	UTSW	3	76707982	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCTGGCTTTTCTGTGCAG -3'
(R):5'- GCTTGTACTTAGGATAAAGCCTGC -3'

Sequencing Primer
(F):5'- CAGGTGTCTCCCCAGTGTAAATAAAG -3'
(R):5'- GCCTGCAAGCCATATTGTATAAAGC -3'

Posted On

2019-10-17