Mutagenetix > Incidental Mutation

Incidental Mutation 'R7083:Fibp'

549714

Institutional Source

Beutler Lab

Gene Symbol

Fibp

Ensembl Gene

ENSMUSG00000024911

Gene Name

fibroblast growth factor (acidic) intracellular binding protein

Synonyms

2010004G08Rik, 3010027N18Rik, 2010005N21Rik

MMRRC Submission

045177-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R7083 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5510643-5515079 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5513659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 232 (D232G)

Ref Sequence

ENSEMBL: ENSMUSP00000025847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025844] [ENSMUST00000025847] [ENSMUST00000225141]

AlphaFold

Q9JI19

Predicted Effect

probably benign
Transcript: ENSMUST00000025844

SMART Domains

Protein: ENSMUSP00000025844
Gene: ENSMUSG00000024910

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Inhibitor_I29	40	97	2.21e-12	SMART
Pept_C1	126	357	1.58e-79	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000025847
AA Change: D232G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025847
Gene: ENSMUSG00000024911
AA Change: D232G

Domain	Start	End	E-Value	Type
Pfam:FIBP	3	363	7.6e-171	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000225141
AA Change: D225G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	T	12: 81,607,015 (GRCm39)	M249K	possibly damaging	Het
Arhgef38	T	A	3: 132,838,197 (GRCm39)	Q613L	unknown	Het
Arpp21	A	G	9: 112,012,612 (GRCm39)	V70A	probably benign	Het
AW551984	T	C	9: 39,508,943 (GRCm39)	N327S	probably damaging	Het
Bnc1	T	C	7: 81,623,058 (GRCm39)	K723R	probably damaging	Het
Btbd7	A	G	12: 102,754,594 (GRCm39)	L724P	probably damaging	Het
Btnl10	G	T	11: 58,809,963 (GRCm39)	V35F	probably damaging	Het
Cd22	T	A	7: 30,567,473 (GRCm39)	T704S	probably damaging	Het
Cd4	T	G	6: 124,847,535 (GRCm39)	S210R	probably benign	Het
Cped1	A	G	6: 22,123,579 (GRCm39)	Q444R	probably benign	Het
Dusp26	A	G	8: 31,581,747 (GRCm39)		probably benign	Het
Dync1i1	C	T	6: 5,969,429 (GRCm39)	A418V	probably damaging	Het
Frem2	T	A	3: 53,444,914 (GRCm39)	T2406S	probably damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr39	T	A	1: 125,605,155 (GRCm39)	W28R	probably damaging	Het
Greb1	A	G	12: 16,773,315 (GRCm39)	V253A	probably benign	Het
Hexim1	T	G	11: 103,007,992 (GRCm39)	L82W	possibly damaging	Het
Hmga1	G	T	17: 27,779,945 (GRCm39)	R49L	possibly damaging	Het
Irag2	A	T	6: 145,115,509 (GRCm39)	N349I	probably damaging	Het
Itch	A	T	2: 155,052,364 (GRCm39)	N655Y	probably damaging	Het
Izumo2	A	G	7: 44,359,757 (GRCm39)	E129G	probably damaging	Het
Klk1b24	G	A	7: 43,841,225 (GRCm39)	C186Y	probably damaging	Het
Lnx1	G	A	5: 74,788,846 (GRCm39)	S31F	possibly damaging	Het
Lrrc37a	T	C	11: 103,394,166 (GRCm39)	I420V	probably benign	Het
Ltk	A	C	2: 119,582,555 (GRCm39)	C776G	probably damaging	Het
Mast4	A	C	13: 102,874,223 (GRCm39)	L1715R	probably damaging	Het
Med28	T	C	5: 45,680,878 (GRCm39)		probably null	Het
Naf1	GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 67,313,138 (GRCm39)		probably benign	Het
Nckap1l	C	A	15: 103,390,551 (GRCm39)	T774K	probably damaging	Het
Nfkbiz	T	C	16: 55,638,663 (GRCm39)	K266E	possibly damaging	Het
Ntrk3	T	A	7: 77,900,587 (GRCm39)	D584V	probably damaging	Het
Or1o1	T	C	17: 37,717,063 (GRCm39)	V208A	probably benign	Het
Or2h15	T	A	17: 38,441,601 (GRCm39)	T161S	probably benign	Het
Or4c126	A	G	2: 89,824,201 (GRCm39)	I155V	probably benign	Het
Or4n4b	G	A	14: 50,536,736 (GRCm39)	T10I	possibly damaging	Het
Or5h25	T	C	16: 58,930,400 (GRCm39)	D191G	probably damaging	Het
Picalm	T	A	7: 89,825,976 (GRCm39)	I376K	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prps1l3	A	T	12: 57,286,034 (GRCm39)	I275L	probably benign	Het
Psg26	G	A	7: 18,213,934 (GRCm39)	R243*	probably null	Het
Ranbp2	A	G	10: 58,315,052 (GRCm39)	H1924R	probably damaging	Het
Rasef	T	C	4: 73,709,221 (GRCm39)	D4G	probably benign	Het
Rttn	T	C	18: 89,108,722 (GRCm39)	L1642P	probably damaging	Het
Shroom3	T	C	5: 93,112,384 (GRCm39)	L1915P	probably damaging	Het
Slc26a10	A	G	10: 127,013,037 (GRCm39)	V319A	probably damaging	Het
Slc4a10	A	G	2: 62,064,839 (GRCm39)	N231S	probably benign	Het
Sox18	T	C	2: 181,312,165 (GRCm39)	Q322R	possibly damaging	Het
Sting1	T	C	18: 35,867,703 (GRCm39)	H331R	probably damaging	Het
Syde1	G	T	10: 78,422,903 (GRCm39)	P490T	probably benign	Het
Syne2	A	G	12: 75,990,662 (GRCm39)	I1881M	probably damaging	Het
Taf1c	T	C	8: 120,327,407 (GRCm39)	D387G	probably damaging	Het
Tenm4	T	A	7: 96,544,556 (GRCm39)	Y2228N	probably damaging	Het
Tubgcp5	C	T	7: 55,450,443 (GRCm39)	Q185*	probably null	Het
Vmn2r44	T	A	7: 8,381,369 (GRCm39)	I175F	probably benign	Het
Zdhhc7	C	A	8: 120,812,166 (GRCm39)	C152F	probably damaging	Het
Zfp52	T	A	17: 21,780,392 (GRCm39)	M80K	possibly damaging	Het
Zfp612	T	C	8: 110,815,768 (GRCm39)	I325T	probably damaging	Het
Zmiz1	T	G	14: 25,652,372 (GRCm39)	F597V	probably damaging	Het

Other mutations in Fibp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02246:Fibp	APN	19	5,513,264 (GRCm39)	missense	probably damaging	1.00
R0539:Fibp	UTSW	19	5,513,216 (GRCm39)	missense	probably damaging	1.00
R1350:Fibp	UTSW	19	5,511,419 (GRCm39)	missense	probably damaging	1.00
R1708:Fibp	UTSW	19	5,513,822 (GRCm39)	missense	probably null	1.00
R4021:Fibp	UTSW	19	5,510,762 (GRCm39)	splice site	probably null
R5556:Fibp	UTSW	19	5,514,227 (GRCm39)	missense	possibly damaging	0.74
R5915:Fibp	UTSW	19	5,513,644 (GRCm39)	missense	possibly damaging	0.92
R5932:Fibp	UTSW	19	5,514,453 (GRCm39)	missense	probably benign	0.01
R7131:Fibp	UTSW	19	5,511,519 (GRCm39)	missense	probably damaging	0.97
R7762:Fibp	UTSW	19	5,514,202 (GRCm39)	missense	probably benign	0.12
R8465:Fibp	UTSW	19	5,513,215 (GRCm39)	missense	probably damaging	1.00
R8758:Fibp	UTSW	19	5,514,970 (GRCm39)	missense	possibly damaging	0.73
R8894:Fibp	UTSW	19	5,513,309 (GRCm39)	missense	probably benign	0.24
R9623:Fibp	UTSW	19	5,513,850 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- ACCACCTCTACGGATAGTCC -3'
(R):5'- GAGAAGACACCCAGCTTTCC -3'

Sequencing Primer
(F):5'- ACCTCTACGGATAGTCCCCTGG -3'
(R):5'- ACCCAGCTTTCCCCGGAG -3'

Posted On

2019-05-15