Mutagenetix > Incidental Mutation

Incidental Mutation 'R9490:Fstl5'

716882

Institutional Source

Beutler Lab

Gene Symbol

Fstl5

Ensembl Gene

ENSMUSG00000034098

Gene Name

follistatin-like 5

Synonyms

9130207J01Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9490 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75981582-76617317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76615060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 707 (V707A)

Ref Sequence

ENSEMBL: ENSMUSP00000125393 (fasta)

Gene Model

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

AlphaFold

Q8BFR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038364
AA Change: V707A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
AA Change: V707A

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: V707A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
AA Change: V707A

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: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,834,601 (GRCm39)	D167G	probably benign	Het
Arhgef37	G	T	18: 61,641,907 (GRCm39)	P154Q	probably damaging	Het
Chsy3	A	T	18: 59,312,486 (GRCm39)	S320C	probably damaging	Het
Col1a2	C	A	6: 4,505,901 (GRCm39)	T21K	unknown	Het
Ctcfl	A	T	2: 172,960,548 (GRCm39)	Y12N	probably benign	Het
Cyria	A	G	12: 12,390,727 (GRCm39)	E13G	probably benign	Het
Disp1	A	G	1: 182,871,092 (GRCm39)	Y443H	probably benign	Het
Dock2	T	A	11: 34,589,582 (GRCm39)	T492S	possibly damaging	Het
Edil3	G	A	13: 89,347,591 (GRCm39)	C382Y	probably benign	Het
Fancd2	A	G	6: 113,555,416 (GRCm39)	K1142E	probably damaging	Het
Fibcd1	T	A	2: 31,723,815 (GRCm39)	T275S	possibly damaging	Het
Gm7298	G	A	6: 121,751,083 (GRCm39)	R720H	probably benign	Het
Hivep1	A	T	13: 42,311,518 (GRCm39)	T1253S	probably damaging	Het
Kif15	A	G	9: 122,788,203 (GRCm39)	N14S	probably benign	Het
Ldhc	G	A	7: 46,519,184 (GRCm39)	V136I	probably damaging	Het
Madd	T	C	2: 91,008,501 (GRCm39)	S134G	probably benign	Het
Map3k5	T	C	10: 20,007,797 (GRCm39)	S1209P	probably benign	Het
Mapre2	A	G	18: 23,986,764 (GRCm39)	K101E	possibly damaging	Het
Muc16	T	A	9: 18,568,149 (GRCm39)	R1457*	probably null	Het
Muc5b	T	C	7: 141,425,497 (GRCm39)	V4714A	probably benign	Het
Pcdhgb5	T	C	18: 37,865,240 (GRCm39)	V345A	probably benign	Het
Phkb	T	C	8: 86,628,525 (GRCm39)	F170S	probably damaging	Het
Pip5kl1	C	T	2: 32,466,667 (GRCm39)	P12L	probably benign	Het
Pramel14	T	A	4: 143,719,606 (GRCm39)	N253I	probably benign	Het
Prmt2	G	A	10: 76,053,227 (GRCm39)	P263S	probably damaging	Het
Rab44	C	T	17: 29,354,065 (GRCm39)		probably benign	Het
Rad9a	C	T	19: 4,247,547 (GRCm39)	G200R	probably damaging	Het
Ralgapb	A	G	2: 158,334,350 (GRCm39)	T1354A	probably benign	Het
Rere	A	G	4: 150,516,040 (GRCm39)	D111G	probably benign	Het
Rnase2b	A	T	14: 51,400,284 (GRCm39)	T122S	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc26a2	C	G	18: 61,331,881 (GRCm39)	V517L	probably benign	Het
Spock2	A	G	10: 59,961,641 (GRCm39)	K195R	probably benign	Het
Tgm7	T	A	2: 120,928,867 (GRCm39)	D343V	probably damaging	Het
Tmf1	T	C	6: 97,137,227 (GRCm39)	T910A	probably benign	Het
Ttc3	T	C	16: 94,245,360 (GRCm39)	V1457A	probably benign	Het
Wdfy3	A	G	5: 102,078,716 (GRCm39)	V862A	probably benign	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
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
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'- GGACTCACGATGCATTCCTC -3'
(R):5'- ATCATCTTGACCTTCCCAGAGG -3'

Sequencing Primer
(F):5'- CTATCCTTGGCATACACCCATCTGG -3'
(R):5'- CAAAGAGTACATCTGTTTGTTGGC -3'

Posted On

2022-07-18