Mutagenetix > Incidental Mutation

Incidental Mutation 'R5842:Fstl5'

450481

Institutional Source

Beutler Lab

Gene Symbol

Fstl5

Ensembl Gene

ENSMUSG00000034098

Gene Name

follistatin-like 5

Synonyms

9130207J01Rik

MMRRC Submission

043223-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75981582-76617317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 76229590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 130 (N130K)

Ref Sequence

ENSEMBL: ENSMUSP00000125393 (fasta)

Gene Model

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

AlphaFold

Q8BFR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038364
AA Change: N130K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: N130K

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

noncoding transcript
Transcript: ENSMUST00000159686

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160261
AA Change: N130K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: N130K

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: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	G	A	3: 127,474,618 (GRCm39)	H462Y	probably damaging	Het
Atp12a	T	C	14: 56,615,747 (GRCm39)	I503T	probably damaging	Het
Bmp6	T	A	13: 38,530,543 (GRCm39)	V212D	probably damaging	Het
Col7a1	A	G	9: 108,794,883 (GRCm39)	D1479G	unknown	Het
Eea1	A	G	10: 95,853,986 (GRCm39)	D548G	probably damaging	Het
Eif5a2	T	C	3: 28,848,546 (GRCm39)	V135A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Gatm	T	C	2: 122,434,108 (GRCm39)	I147V	probably benign	Het
Jakmip1	C	T	5: 37,264,612 (GRCm39)	R418C	probably damaging	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Matn2	A	T	15: 34,399,202 (GRCm39)	D363V	probably damaging	Het
Mov10	G	A	3: 104,706,695 (GRCm39)		probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Nbas	T	C	12: 13,319,267 (GRCm39)		probably null	Het
Nlgn1	A	T	3: 26,187,892 (GRCm39)		probably null	Het
Nnt	T	A	13: 119,531,283 (GRCm39)	I155F	probably damaging	Het
Or5p80	A	G	7: 108,229,859 (GRCm39)	Y220C	probably benign	Het
Pacc1	G	T	1: 191,078,986 (GRCm39)	C223F	probably damaging	Het
Parp9	A	G	16: 35,763,778 (GRCm39)	I19V	possibly damaging	Het
Pcdha11	T	A	18: 37,144,337 (GRCm39)	S143T	possibly damaging	Het
Pdzph1	T	G	17: 59,281,407 (GRCm39)	S292R	possibly damaging	Het
Pmvk	T	A	3: 89,374,927 (GRCm39)	V108D	probably damaging	Het
Rc3h2	T	C	2: 37,268,383 (GRCm39)	T916A	possibly damaging	Het
Slc23a1	T	A	18: 35,755,935 (GRCm39)	I393F	probably damaging	Het
Slc4a7	T	A	14: 14,778,866 (GRCm38)	M925K	probably damaging	Het
Spag17	A	G	3: 99,846,566 (GRCm39)	D30G	possibly damaging	Het
Syde2	A	G	3: 145,704,775 (GRCm39)	I576V	probably benign	Het
Tgm2	C	T	2: 157,985,001 (GRCm39)	R35H	probably damaging	Het
Tiam1	A	G	16: 89,652,887 (GRCm39)	V745A	probably benign	Het
Timeless	T	C	10: 128,083,328 (GRCm39)		probably null	Het
Trp53tg5	T	C	2: 164,313,289 (GRCm39)	K129E	possibly damaging	Het
Ttc6	T	C	12: 57,783,802 (GRCm39)	Y1754H	probably damaging	Het
Ube4b	G	T	4: 149,415,887 (GRCm39)	T1069N	probably benign	Het
Ugcg	C	T	4: 59,219,545 (GRCm39)	S294L	possibly damaging	Het
Vgll2	T	C	10: 51,901,388 (GRCm39)	L106P	probably damaging	Het
Vsig10l	T	A	7: 43,118,396 (GRCm39)	V798E	probably benign	Het
Wdr73	A	T	7: 80,541,458 (GRCm39)	H361Q	probably damaging	Het
Xrcc3	A	T	12: 111,770,964 (GRCm39)	F322I	possibly damaging	Het
Ypel1	T	C	16: 16,912,851 (GRCm39)	T26A	possibly damaging	Het

Other mutations in Fstl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01632:Fstl5	APN	3	76,615,135 (GRCm39)	missense	probably benign	0.30
IGL01658:Fstl5	APN	3	76,389,562 (GRCm39)	missense	possibly damaging	0.70
IGL01917:Fstl5	APN	3	76,615,153 (GRCm39)	missense	probably damaging	1.00
IGL02073:Fstl5	APN	3	76,566,959 (GRCm39)	splice site	probably benign
IGL02329:Fstl5	APN	3	76,496,302 (GRCm39)	missense	probably damaging	1.00
IGL02651:Fstl5	APN	3	76,500,841 (GRCm39)	missense	probably damaging	1.00
IGL02967:Fstl5	APN	3	76,229,498 (GRCm39)	missense	probably damaging	1.00
IGL03004:Fstl5	APN	3	76,555,738 (GRCm39)	splice site	probably benign
IGL03107:Fstl5	APN	3	76,443,618 (GRCm39)	missense	probably damaging	1.00
IGL03113:Fstl5	APN	3	76,337,099 (GRCm39)	nonsense	probably null
P0038:Fstl5	UTSW	3	76,052,369 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Fstl5	UTSW	3	76,567,006 (GRCm39)	missense	probably damaging	0.99
R0015:Fstl5	UTSW	3	76,229,498 (GRCm39)	missense	probably damaging	1.00
R0015:Fstl5	UTSW	3	76,229,498 (GRCm39)	missense	probably damaging	1.00
R0032:Fstl5	UTSW	3	76,555,742 (GRCm39)	splice site	probably benign
R0032:Fstl5	UTSW	3	76,555,742 (GRCm39)	splice site	probably benign
R0078:Fstl5	UTSW	3	76,566,952 (GRCm39)	splice site	probably benign
R0137:Fstl5	UTSW	3	76,614,786 (GRCm39)	missense	probably damaging	1.00
R0183:Fstl5	UTSW	3	76,229,579 (GRCm39)	missense	possibly damaging	0.86
R0330:Fstl5	UTSW	3	76,615,060 (GRCm39)	missense	possibly damaging	0.80
R0427:Fstl5	UTSW	3	76,615,034 (GRCm39)	nonsense	probably null
R0687:Fstl5	UTSW	3	76,615,119 (GRCm39)	missense	possibly damaging	0.62
R1642:Fstl5	UTSW	3	76,317,929 (GRCm39)	missense	possibly damaging	0.80
R1765:Fstl5	UTSW	3	76,500,783 (GRCm39)	missense	possibly damaging	0.90
R1900:Fstl5	UTSW	3	76,615,467 (GRCm39)	missense	probably damaging	1.00
R1996:Fstl5	UTSW	3	76,615,141 (GRCm39)	missense	probably benign	0.19
R2157:Fstl5	UTSW	3	76,615,372 (GRCm39)	missense	possibly damaging	0.46
R2228:Fstl5	UTSW	3	76,389,659 (GRCm39)	missense	probably damaging	1.00
R2851:Fstl5	UTSW	3	76,337,045 (GRCm39)	splice site	probably benign
R4021:Fstl5	UTSW	3	76,536,282 (GRCm39)	missense	probably benign	0.00
R4086:Fstl5	UTSW	3	76,555,593 (GRCm39)	missense	probably damaging	1.00
R4777:Fstl5	UTSW	3	76,500,807 (GRCm39)	missense	probably damaging	1.00
R4829:Fstl5	UTSW	3	76,229,489 (GRCm39)	missense	probably damaging	1.00
R4934:Fstl5	UTSW	3	76,496,272 (GRCm39)	missense	probably damaging	1.00
R4955:Fstl5	UTSW	3	76,131,183 (GRCm39)	critical splice donor site	probably null
R4977:Fstl5	UTSW	3	76,317,801 (GRCm39)	nonsense	probably null
R5166:Fstl5	UTSW	3	76,536,267 (GRCm39)	missense	possibly damaging	0.86
R5232:Fstl5	UTSW	3	76,052,284 (GRCm39)	missense	possibly damaging	0.89
R5313:Fstl5	UTSW	3	76,500,812 (GRCm39)	missense	possibly damaging	0.90
R5584:Fstl5	UTSW	3	76,229,574 (GRCm39)	missense	probably damaging	1.00
R5647:Fstl5	UTSW	3	76,496,399 (GRCm39)	missense	probably damaging	1.00
R5978:Fstl5	UTSW	3	76,052,392 (GRCm39)	missense	probably damaging	1.00
R6007:Fstl5	UTSW	3	76,317,899 (GRCm39)	missense	probably damaging	1.00
R6064:Fstl5	UTSW	3	76,229,605 (GRCm39)	missense	probably benign	0.13
R6327:Fstl5	UTSW	3	76,615,108 (GRCm39)	missense	probably benign	0.31
R6386:Fstl5	UTSW	3	76,229,373 (GRCm39)	missense	probably benign	0.13
R6523:Fstl5	UTSW	3	76,443,641 (GRCm39)	missense	probably benign	0.00
R6852:Fstl5	UTSW	3	76,615,162 (GRCm39)	missense	probably damaging	1.00
R6861:Fstl5	UTSW	3	76,229,523 (GRCm39)	missense	probably damaging	1.00
R6866:Fstl5	UTSW	3	76,229,532 (GRCm39)	missense	probably damaging	0.99
R7100:Fstl5	UTSW	3	76,443,600 (GRCm39)	missense	probably benign	0.11
R7341:Fstl5	UTSW	3	76,389,704 (GRCm39)	splice site	probably null
R7495:Fstl5	UTSW	3	76,615,099 (GRCm39)	missense	possibly damaging	0.85
R7558:Fstl5	UTSW	3	76,337,092 (GRCm39)	missense	possibly damaging	0.95
R7731:Fstl5	UTSW	3	76,569,069 (GRCm39)	missense	probably damaging	1.00
R7787:Fstl5	UTSW	3	76,337,131 (GRCm39)	missense	probably damaging	1.00
R7852:Fstl5	UTSW	3	76,615,275 (GRCm39)	missense	probably benign	0.00
R7874:Fstl5	UTSW	3	76,569,093 (GRCm39)	missense	probably benign	0.10
R7881:Fstl5	UTSW	3	76,443,605 (GRCm39)	missense	probably damaging	1.00
R7986:Fstl5	UTSW	3	76,337,097 (GRCm39)	missense	probably damaging	0.98
R8039:Fstl5	UTSW	3	76,555,725 (GRCm39)	missense	possibly damaging	0.69
R8050:Fstl5	UTSW	3	76,614,810 (GRCm39)	missense	probably benign	0.00
R8844:Fstl5	UTSW	3	76,337,154 (GRCm39)	missense	possibly damaging	0.71
R8929:Fstl5	UTSW	3	76,615,138 (GRCm39)	missense	probably damaging	0.98
R9012:Fstl5	UTSW	3	76,567,027 (GRCm39)	missense	probably damaging	1.00
R9069:Fstl5	UTSW	3	76,615,416 (GRCm39)	missense	probably damaging	0.99
R9221:Fstl5	UTSW	3	76,569,114 (GRCm39)	missense	probably damaging	0.98
R9373:Fstl5	UTSW	3	76,555,669 (GRCm39)	nonsense	probably null
R9427:Fstl5	UTSW	3	76,229,583 (GRCm39)	missense
R9490:Fstl5	UTSW	3	76,615,060 (GRCm39)	missense	possibly damaging	0.80
R9603:Fstl5	UTSW	3	76,496,260 (GRCm39)	missense	probably damaging	1.00
Z1176:Fstl5	UTSW	3	76,615,289 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAGGCACTGTGTTATCAAC -3'
(R):5'- GGCCAGCTTTAGTCTCATAAATG -3'

Sequencing Primer
(F):5'- TGTGTTATCAACAGAGAGACAAGGC -3'
(R):5'- CCATACACTACTGAATTTTGGGTTTG -3'

Posted On

2016-12-20