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

044481-MU

Accession Numbers

Essential gene?

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

Stock #

R6327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75981582-76617317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76615108 bp (GRCm39)

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: 128,535,655 (GRCm39)		probably null	Het
Birc6	C	A	17: 74,969,774 (GRCm39)	H383Q	probably damaging	Het
C2	C	A	17: 35,083,079 (GRCm39)	A431S	probably benign	Het
C3ar1	C	T	6: 122,827,105 (GRCm39)	V371M	probably damaging	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Ckap2l	A	G	2: 129,127,414 (GRCm39)	S255P	probably damaging	Het
Clca3a1	T	A	3: 144,436,558 (GRCm39)	I842F	probably benign	Het
Cmc2	G	T	8: 117,620,896 (GRCm39)	H28Q	probably damaging	Het
Col11a2	C	T	17: 34,262,291 (GRCm39)	P176L	probably benign	Het
Csmd3	T	C	15: 47,744,783 (GRCm39)	D1404G	probably damaging	Het
Dld	G	A	12: 31,382,190 (GRCm39)	P506S	probably benign	Het
Dsg3	T	C	18: 20,672,927 (GRCm39)	M866T	probably benign	Het
Ehd1	T	C	19: 6,348,375 (GRCm39)	I451T	possibly damaging	Het
Fosb	T	C	7: 19,041,152 (GRCm39)	T114A	probably benign	Het
Foxd4	T	A	19: 24,878,198 (GRCm39)	M1L	possibly damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Hdlbp	A	G	1: 93,357,186 (GRCm39)	S299P	possibly damaging	Het
Mast4	G	A	13: 102,897,890 (GRCm39)	R650C	probably damaging	Het
Micu3	A	G	8: 40,819,238 (GRCm39)	T306A	probably benign	Het
Mylk2	A	G	2: 152,755,613 (GRCm39)	Q259R	possibly damaging	Het
Nfkbiz	T	C	16: 55,642,325 (GRCm39)	N31S	probably damaging	Het
Nisch	A	T	14: 30,893,444 (GRCm39)		probably benign	Het
Nudt17	T	C	3: 96,615,080 (GRCm39)		probably benign	Het
Oprm1	A	C	10: 6,780,063 (GRCm39)	I242L	probably damaging	Het
Or13a26	T	C	7: 140,284,616 (GRCm39)	W151R	probably damaging	Het
Or14c39	T	C	7: 86,343,760 (GRCm39)	V32A	probably benign	Het
Or2y1d	A	C	11: 49,321,828 (GRCm39)	H175P	probably damaging	Het
Otud6b	A	G	4: 14,826,496 (GRCm39)		probably benign	Het
Pamr1	A	T	2: 102,472,519 (GRCm39)	D606V	probably damaging	Het
Pcf11	T	C	7: 92,308,817 (GRCm39)		probably benign	Het
Pom121l2	T	C	13: 22,166,502 (GRCm39)	S258P	probably damaging	Het
Rcsd1	T	A	1: 165,483,403 (GRCm39)	D196V	possibly damaging	Het
Sbf2	C	T	7: 110,040,759 (GRCm39)	R356Q	probably damaging	Het
Serpinf1	A	G	11: 75,304,731 (GRCm39)		probably null	Het
Slc22a30	T	G	19: 8,313,086 (GRCm39)		probably benign	Het
Strn4	G	T	7: 16,550,384 (GRCm39)	S36I	probably benign	Het
Taar6	A	G	10: 23,861,177 (GRCm39)	L123P	probably damaging	Het
Thbs1	G	T	2: 117,943,137 (GRCm39)	R5L	unknown	Het
Timp3	T	C	10: 86,181,650 (GRCm39)	Y174H	probably benign	Het
Trpm2	C	T	10: 77,768,061 (GRCm39)	V813M	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vcan	A	T	13: 89,852,951 (GRCm39)	S670T	probably damaging	Het
Vmn1r65	A	T	7: 6,011,651 (GRCm39)	N194K	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
R5842:Fstl5	UTSW	3	76,229,590 (GRCm39)	missense	possibly damaging	0.94
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
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'- TACTACTTCATAAGCTGCAAGGCTG -3'
(R):5'- AGGGCCAGTCTTCTGTCTTG -3'

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

Posted On

2018-04-02