Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Fstl4'

208751

Institutional Source

Beutler Lab

Gene Symbol

Fstl4

Ensembl Gene

ENSMUSG00000036264

Gene Name

follistatin-like 4

Synonyms

SPIG1, B230374F23Rik

MMRRC Submission

039889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R1866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52655461-53079365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53077225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 661 (Q661K)

Ref Sequence

ENSEMBL: ENSMUSP00000042007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036796]

AlphaFold

Q5STE3

Predicted Effect

probably benign
Transcript: ENSMUST00000036796
AA Change: Q661K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000042007
Gene: ENSMUSG00000036264
AA Change: Q661K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
KAZAL	87	132	4.7e-13	SMART
Blast:IG_like	215	241	6e-7	BLAST
IGc2	260	327	1.9e-6	SMART
IGc2	352	419	1e-14	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice were born at expected Mendelian ratio and healthy, fertile, apparently normal with normal retinal laminar structure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,870,195 (GRCm39)	E9V	probably benign	Het
Armc8	T	A	9: 99,418,333 (GRCm39)	T32S	probably benign	Het
Atr	T	A	9: 95,752,658 (GRCm39)		probably null	Het
Blm	A	G	7: 80,143,862 (GRCm39)	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,691,171 (GRCm39)	F51L	probably damaging	Het
Cdcp2	A	G	4: 106,964,197 (GRCm39)	N349S	probably damaging	Het
Cfap57	G	A	4: 118,457,124 (GRCm39)	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,928,517 (GRCm39)	L173P	probably damaging	Het
Cpb1	C	G	3: 20,317,920 (GRCm39)	M201I	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Dnah3	A	T	7: 119,528,079 (GRCm39)		probably null	Het
Dnah6	T	A	6: 73,077,071 (GRCm39)	Q2398L	probably benign	Het
Dpep2	A	T	8: 106,716,080 (GRCm39)		probably null	Het
Eif2ak4	C	A	2: 118,303,142 (GRCm39)	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,828,896 (GRCm39)	V496A	probably damaging	Het
Fam174a	A	C	1: 95,241,620 (GRCm39)	S27R	probably benign	Het
Fat2	T	A	11: 55,182,840 (GRCm39)	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,864,797 (GRCm39)	D188E	possibly damaging	Het
Focad	A	G	4: 88,325,402 (GRCm39)	D89G	possibly damaging	Het
Gck	T	C	11: 5,853,253 (GRCm39)	Y289C	probably benign	Het
Gm16181	T	A	17: 35,442,913 (GRCm39)		probably benign	Het
Herc1	G	A	9: 66,358,073 (GRCm39)	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Il12b	T	C	11: 44,299,353 (GRCm39)	W141R	probably damaging	Het
Itga6	T	A	2: 71,664,414 (GRCm39)	S517T	probably benign	Het
Kank1	A	G	19: 25,388,813 (GRCm39)	S801G	probably benign	Het
Klrh1	A	G	6: 129,752,343 (GRCm39)		probably null	Het
Lctl	A	G	9: 64,039,003 (GRCm39)	D205G	probably damaging	Het
Lhx3	A	C	2: 26,093,986 (GRCm39)	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,543,912 (GRCm39)	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,797,877 (GRCm39)	E505D	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map6	A	G	7: 98,965,083 (GRCm39)	S291G	probably damaging	Het
Mapk7	A	G	11: 61,380,239 (GRCm39)	F671L	probably benign	Het
Mau2	A	G	8: 70,484,142 (GRCm39)	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,647,267 (GRCm39)	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,471,741 (GRCm39)		probably null	Het
Mical1	C	A	10: 41,361,466 (GRCm39)	P797Q	probably benign	Het
Mnx1	G	A	5: 29,679,043 (GRCm39)	R347C	unknown	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,330,715 (GRCm39)	C560*	probably null	Het
Npat	T	A	9: 53,474,416 (GRCm39)	L736H	probably damaging	Het
Nup155	T	A	15: 8,145,010 (GRCm39)	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,238,121 (GRCm39)	F45L	probably benign	Het
Obscn	T	C	11: 58,951,741 (GRCm39)	D4370G	probably benign	Het
Or2d3b	A	G	7: 106,514,273 (GRCm39)	I289M	probably damaging	Het
Or4a79	T	C	2: 89,551,550 (GRCm39)	K302E	probably benign	Het
Or4c35	T	C	2: 89,808,671 (GRCm39)	L183S	probably damaging	Het
Or4d10	A	G	19: 12,051,183 (GRCm39)	V271A	probably benign	Het
Or52n4	A	G	7: 104,294,004 (GRCm39)	S190P	probably benign	Het
Or5g23	T	A	2: 85,439,188 (GRCm39)	H22L	probably benign	Het
Or8k3	A	C	2: 86,059,072 (GRCm39)	M81R	probably damaging	Het
Pcx	T	C	19: 4,671,249 (GRCm39)	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,240,412 (GRCm39)	S589R	probably benign	Het
Plcb1	T	C	2: 135,186,093 (GRCm39)	F687L	probably benign	Het
Plk5	G	T	10: 80,196,403 (GRCm39)		probably null	Het
Pnpla2	T	A	7: 141,035,329 (GRCm39)	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,098,292 (GRCm39)	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,365,358 (GRCm39)		probably null	Het
Prom2	T	C	2: 127,378,514 (GRCm39)	D460G	probably damaging	Het
Pros1	A	G	16: 62,748,498 (GRCm39)	H657R	possibly damaging	Het
Prune2	A	G	19: 17,100,856 (GRCm39)	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,716,347 (GRCm39)	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,839,157 (GRCm39)	E858D	probably benign	Het
Rbm48	T	C	5: 3,645,997 (GRCm39)	Y69C	probably damaging	Het
Rgs12	T	A	5: 35,123,018 (GRCm39)	I267N	probably damaging	Het
Rpusd2	G	T	2: 118,865,728 (GRCm39)	A142S	probably benign	Het
Rspo2	A	T	15: 42,939,332 (GRCm39)	W153R	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Serinc5	T	A	13: 92,842,771 (GRCm39)	M407K	probably damaging	Het
Slain2	T	C	5: 73,114,665 (GRCm39)	S299P	probably damaging	Het
Slc17a4	A	G	13: 24,084,528 (GRCm39)	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,627,183 (GRCm39)	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,688,506 (GRCm39)	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,336,902 (GRCm39)	F91L	probably damaging	Het
Spag5	C	A	11: 78,195,281 (GRCm39)	T196K	possibly damaging	Het
Susd2	G	T	10: 75,475,566 (GRCm39)	A326D	probably damaging	Het
Syna	G	T	5: 134,588,769 (GRCm39)	A60D	probably damaging	Het
Tchh	A	T	3: 93,355,067 (GRCm39)	E1502D	unknown	Het
Tecta	T	C	9: 42,303,320 (GRCm39)	H104R	probably damaging	Het
Tmed1	T	C	9: 21,420,387 (GRCm39)	D102G	probably damaging	Het
Trip12	T	C	1: 84,722,781 (GRCm39)	D128G	probably damaging	Het
Uroc1	A	G	6: 90,338,506 (GRCm39)	M656V	probably benign	Het
Usp47	T	A	7: 111,701,077 (GRCm39)	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r19	G	T	6: 123,308,597 (GRCm39)		probably null	Het
Vmn2r86	A	T	10: 130,282,255 (GRCm39)	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,308,441 (GRCm39)	I599N	possibly damaging	Het
Vwf	A	G	6: 125,644,492 (GRCm39)	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,269,977 (GRCm39)	C22S	probably benign	Het
Zc3h7a	A	G	16: 10,965,168 (GRCm39)	I655T	possibly damaging	Het
Zfp764l1	A	G	7: 126,992,503 (GRCm39)	W36R	probably damaging	Het

Other mutations in Fstl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Fstl4	APN	11	53,077,102 (GRCm39)	missense	probably benign	0.01
IGL00885:Fstl4	APN	11	53,039,809 (GRCm39)	missense	possibly damaging	0.90
IGL00915:Fstl4	APN	11	53,067,825 (GRCm39)	missense	probably benign
IGL00933:Fstl4	APN	11	53,077,588 (GRCm39)	missense	possibly damaging	0.80
IGL01022:Fstl4	APN	11	53,077,568 (GRCm39)	missense	probably benign	0.18
IGL01121:Fstl4	APN	11	52,705,464 (GRCm39)	missense	probably benign	0.00
IGL01656:Fstl4	APN	11	52,891,201 (GRCm39)	missense	probably damaging	1.00
IGL01805:Fstl4	APN	11	53,077,184 (GRCm39)	missense	probably damaging	1.00
IGL01997:Fstl4	APN	11	53,053,881 (GRCm39)	nonsense	probably null
IGL02386:Fstl4	APN	11	52,664,698 (GRCm39)	missense	probably benign	0.21
IGL02536:Fstl4	APN	11	53,024,851 (GRCm39)	splice site	probably benign
IGL02807:Fstl4	APN	11	53,077,501 (GRCm39)	missense	probably benign	0.03
IGL03037:Fstl4	APN	11	53,059,050 (GRCm39)	missense	possibly damaging	0.83
R0462:Fstl4	UTSW	11	53,077,229 (GRCm39)	missense	probably benign	0.09
R1190:Fstl4	UTSW	11	52,959,373 (GRCm39)	missense	probably benign
R1300:Fstl4	UTSW	11	52,959,454 (GRCm39)	missense	probably benign
R1626:Fstl4	UTSW	11	52,891,117 (GRCm39)	nonsense	probably null
R1695:Fstl4	UTSW	11	53,056,705 (GRCm39)	splice site	probably null
R1699:Fstl4	UTSW	11	53,059,005 (GRCm39)	missense	possibly damaging	0.81
R1727:Fstl4	UTSW	11	52,959,478 (GRCm39)	missense	probably damaging	1.00
R1752:Fstl4	UTSW	11	53,077,622 (GRCm39)	missense	probably benign	0.09
R4689:Fstl4	UTSW	11	52,959,477 (GRCm39)	nonsense	probably null
R5126:Fstl4	UTSW	11	53,077,388 (GRCm39)	missense	possibly damaging	0.71
R5129:Fstl4	UTSW	11	53,077,266 (GRCm39)	missense	probably damaging	1.00
R5499:Fstl4	UTSW	11	52,959,374 (GRCm39)	missense	probably benign	0.01
R5578:Fstl4	UTSW	11	53,056,608 (GRCm39)	missense	probably damaging	1.00
R5715:Fstl4	UTSW	11	52,891,243 (GRCm39)	missense	possibly damaging	0.53
R6125:Fstl4	UTSW	11	53,077,130 (GRCm39)	missense	probably benign
R6177:Fstl4	UTSW	11	53,059,031 (GRCm39)	missense	probably benign	0.00
R6236:Fstl4	UTSW	11	53,077,162 (GRCm39)	missense	probably benign	0.00
R6311:Fstl4	UTSW	11	53,067,804 (GRCm39)	missense	probably damaging	1.00
R6611:Fstl4	UTSW	11	53,077,552 (GRCm39)	missense	probably benign	0.01
R6886:Fstl4	UTSW	11	53,077,277 (GRCm39)	missense	probably damaging	1.00
R7404:Fstl4	UTSW	11	53,024,898 (GRCm39)	missense	probably benign	0.03
R7423:Fstl4	UTSW	11	52,959,382 (GRCm39)	missense	possibly damaging	0.54
R7586:Fstl4	UTSW	11	52,963,256 (GRCm39)	missense	probably benign	0.00
R7756:Fstl4	UTSW	11	53,059,123 (GRCm39)	missense	possibly damaging	0.69
R7758:Fstl4	UTSW	11	53,059,123 (GRCm39)	missense	possibly damaging	0.69
R7775:Fstl4	UTSW	11	53,067,798 (GRCm39)	nonsense	probably null
R7953:Fstl4	UTSW	11	52,891,050 (GRCm39)	missense	probably benign	0.01
R8026:Fstl4	UTSW	11	52,959,496 (GRCm39)	missense	probably damaging	0.99
R8043:Fstl4	UTSW	11	52,891,050 (GRCm39)	missense	probably benign	0.01
R8375:Fstl4	UTSW	11	53,053,502 (GRCm39)	missense	possibly damaging	0.63
R8866:Fstl4	UTSW	11	52,963,233 (GRCm39)	missense	possibly damaging	0.54
R9103:Fstl4	UTSW	11	52,664,696 (GRCm39)	missense	probably benign	0.21
R9182:Fstl4	UTSW	11	53,024,905 (GRCm39)	missense	probably damaging	0.98
R9297:Fstl4	UTSW	11	53,024,973 (GRCm39)	missense	possibly damaging	0.50
R9390:Fstl4	UTSW	11	52,891,102 (GRCm39)	missense	probably benign
R9396:Fstl4	UTSW	11	52,664,778 (GRCm39)	missense	probably benign
R9447:Fstl4	UTSW	11	53,077,166 (GRCm39)	missense	probably damaging	1.00
R9506:Fstl4	UTSW	11	53,024,950 (GRCm39)	missense	probably benign	0.18
R9518:Fstl4	UTSW	11	53,056,647 (GRCm39)	missense	possibly damaging	0.71
R9523:Fstl4	UTSW	11	53,075,466 (GRCm39)	missense	probably benign	0.04
R9586:Fstl4	UTSW	11	53,077,729 (GRCm39)	missense	probably benign	0.02
R9594:Fstl4	UTSW	11	52,664,694 (GRCm39)	missense	probably benign
X0013:Fstl4	UTSW	11	53,053,446 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACAGATGTCTCACCCCTC -3'
(R):5'- CGTATAGCGTCTGGATTTCCC -3'

Sequencing Primer
(F):5'- GATGTCTCACCCCTCGCAGTG -3'
(R):5'- CCCCGCACTGTGACCTC -3'

Posted On

2014-06-30