Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03406:Fap'

421616

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fap

Ensembl Gene

ENSMUSG00000000392

Gene Name

fibroblast activation protein

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

62331280-62404365 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 62372466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000402] [ENSMUST00000102732] [ENSMUST00000174234] [ENSMUST00000174448]

AlphaFold

P97321

Predicted Effect

probably benign
Transcript: ENSMUST00000000402

SMART Domains

Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:DPPIV_N	73	440	2e-110	PFAM
Pfam:Abhydrolase_5	504	719	2.4e-12	PFAM
Pfam:Abhydrolase_6	515	703	2.3e-10	PFAM
Pfam:Peptidase_S9	520	727	9.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102732

SMART Domains

Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DPPIV_N	106	473	1.9e-106	PFAM
Pfam:Abhydrolase_5	537	752	2.9e-12	PFAM
Pfam:Peptidase_S9	553	760	1.5e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172676

Predicted Effect

probably benign
Transcript: ENSMUST00000174234

SMART Domains

Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DPPIV_N	82	448	4.1e-108	PFAM
Pfam:Abhydrolase_5	512	727	6.4e-12	PFAM
Pfam:Abhydrolase_6	523	711	8.9e-10	PFAM
Pfam:Peptidase_S9	528	735	5.9e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174448

SMART Domains

Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DPPIV_N	101	468	2.2e-110	PFAM
Pfam:Abhydrolase_5	532	747	2.5e-12	PFAM
Pfam:Abhydrolase_6	541	731	2.4e-10	PFAM
Pfam:Peptidase_S9	548	755	1e-59	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene belongs to the serine protease family. The encoded protein is an inducible cell-surface bound glycoprotein specifically expressed in tumor-associated fibroblasts and pericytes of epithelial tumors and has protease and gelatinase activity. The protein plays a role in remodeling of the extracellular matrix (ECM) and may affect tumorigenesis and tissue repair. Alternately spliced transcript variants of this gene are described in the literature (PMID 9139873), but the full-length sequence of these variants is not available. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a targeted null mutations exhibit no discernable phenotype; mice are viable and fertile with no change in cancer susceptibility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530016L24Rik	T	A	12: 112,463,317 (GRCm39)		probably null	Het
Adcy7	C	T	8: 89,044,947 (GRCm39)	R228*	probably null	Het
Cdcp1	T	C	9: 123,014,378 (GRCm39)	H132R	probably benign	Het
Cfap107	A	G	4: 144,150,414 (GRCm39)	Y56H	probably damaging	Het
Cyp4a32	T	C	4: 115,459,500 (GRCm39)	I78T	probably benign	Het
Gad1-ps	C	T	10: 99,280,641 (GRCm39)		noncoding transcript	Het
Gli3	T	C	13: 15,823,166 (GRCm39)	I296T	probably damaging	Het
H2-Q2	T	C	17: 35,561,801 (GRCm39)	V97A	probably benign	Het
Hr	T	A	14: 70,800,860 (GRCm39)		probably null	Het
Itgax	C	T	7: 127,748,370 (GRCm39)	T1133I	possibly damaging	Het
L3mbtl2	G	A	15: 81,566,194 (GRCm39)	R339H	probably damaging	Het
Mast4	T	C	13: 102,873,615 (GRCm39)	K1726E	possibly damaging	Het
Nlrc5	T	C	8: 95,203,483 (GRCm39)	Y528H	probably benign	Het
Nmnat3	G	A	9: 98,281,530 (GRCm39)	G44D	probably damaging	Het
Nol8	A	T	13: 49,815,044 (GRCm39)	D366V	probably damaging	Het
Or13a25	C	A	7: 140,247,424 (GRCm39)	L68M	probably damaging	Het
Pde4d	A	T	13: 110,091,125 (GRCm39)		probably benign	Het
Ptpn22	C	A	3: 103,819,332 (GRCm39)	N795K	probably benign	Het
Rabgap1l	A	T	1: 160,549,739 (GRCm39)	V289D	probably damaging	Het
Slc50a1	T	C	3: 89,177,408 (GRCm39)	D40G	possibly damaging	Het
Slco6b1	T	C	1: 96,875,310 (GRCm39)		noncoding transcript	Het
Smarcad1	T	A	6: 65,069,510 (GRCm39)	F530Y	probably damaging	Het
Spag6	A	G	2: 18,747,684 (GRCm39)		probably benign	Het
Supt16	A	T	14: 52,415,598 (GRCm39)	I379N	possibly damaging	Het
Tmem154	A	G	3: 84,591,567 (GRCm39)	N39S	probably benign	Het
Ubash3b	T	A	9: 40,948,775 (GRCm39)	Y180F	probably damaging	Het
Usp48	T	A	4: 137,366,606 (GRCm39)	D921E	possibly damaging	Het
Zdhhc20	T	C	14: 58,076,556 (GRCm39)	T366A	probably benign	Het
Zfp456	A	T	13: 67,514,450 (GRCm39)	C419S	probably damaging	Het
Zfp69	T	C	4: 120,788,281 (GRCm39)	T345A	probably benign	Het

Other mutations in Fap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Fap	APN	2	62,354,545 (GRCm39)	missense	possibly damaging	0.82
IGL01420:Fap	APN	2	62,334,846 (GRCm39)	splice site	probably benign
IGL01485:Fap	APN	2	62,374,655 (GRCm39)	missense	possibly damaging	0.80
IGL01987:Fap	APN	2	62,359,020 (GRCm39)	missense	probably damaging	1.00
IGL02198:Fap	APN	2	62,385,142 (GRCm39)	missense	probably benign
IGL02355:Fap	APN	2	62,403,842 (GRCm39)	missense	probably benign	0.02
IGL02362:Fap	APN	2	62,403,842 (GRCm39)	missense	probably benign	0.02
IGL03227:Fap	APN	2	62,361,107 (GRCm39)	critical splice acceptor site	probably null
IGL03266:Fap	APN	2	62,367,366 (GRCm39)	missense	probably benign
IGL03369:Fap	APN	2	62,333,699 (GRCm39)	splice site	probably benign
mnemosyne	UTSW	2	62,359,058 (GRCm39)	missense	probably damaging	1.00
R1467_Fap_571	UTSW	2	62,347,964 (GRCm39)	missense	probably benign	0.18
R4812_Fap_496	UTSW	2	62,349,365 (GRCm39)	missense	probably damaging	1.00
R5661_fap_070	UTSW	2	62,367,307 (GRCm39)	intron	probably benign
ANU74:Fap	UTSW	2	62,378,113 (GRCm39)	missense	probably damaging	1.00
R0254:Fap	UTSW	2	62,333,746 (GRCm39)	missense	probably damaging	1.00
R0842:Fap	UTSW	2	62,367,345 (GRCm39)	missense	probably damaging	1.00
R1467:Fap	UTSW	2	62,347,964 (GRCm39)	missense	probably benign	0.18
R1467:Fap	UTSW	2	62,347,964 (GRCm39)	missense	probably benign	0.18
R1591:Fap	UTSW	2	62,384,201 (GRCm39)	missense	probably damaging	0.99
R1671:Fap	UTSW	2	62,384,179 (GRCm39)	missense	possibly damaging	0.46
R1674:Fap	UTSW	2	62,349,349 (GRCm39)	missense	probably benign
R1795:Fap	UTSW	2	62,378,933 (GRCm39)	missense	probably damaging	1.00
R1869:Fap	UTSW	2	62,359,071 (GRCm39)	missense	probably damaging	1.00
R2032:Fap	UTSW	2	62,372,581 (GRCm39)	missense	probably benign	0.43
R2136:Fap	UTSW	2	62,354,551 (GRCm39)	missense	possibly damaging	0.94
R3546:Fap	UTSW	2	62,349,355 (GRCm39)	missense	probably damaging	1.00
R3547:Fap	UTSW	2	62,349,355 (GRCm39)	missense	probably damaging	1.00
R3771:Fap	UTSW	2	62,363,354 (GRCm39)	missense	probably damaging	1.00
R3801:Fap	UTSW	2	62,376,994 (GRCm39)	missense	probably benign	0.04
R3910:Fap	UTSW	2	62,386,448 (GRCm39)	missense	probably damaging	1.00
R4306:Fap	UTSW	2	62,361,051 (GRCm39)	critical splice donor site	probably null
R4323:Fap	UTSW	2	62,333,716 (GRCm39)	missense	probably damaging	0.97
R4517:Fap	UTSW	2	62,361,059 (GRCm39)	missense	probably benign	0.01
R4793:Fap	UTSW	2	62,374,713 (GRCm39)	missense	probably damaging	1.00
R4812:Fap	UTSW	2	62,349,365 (GRCm39)	missense	probably damaging	1.00
R4843:Fap	UTSW	2	62,374,718 (GRCm39)	missense	probably damaging	1.00
R5281:Fap	UTSW	2	62,363,305 (GRCm39)	critical splice donor site	probably null
R5661:Fap	UTSW	2	62,367,307 (GRCm39)	intron	probably benign
R5696:Fap	UTSW	2	62,332,803 (GRCm39)	missense	probably damaging	1.00
R5750:Fap	UTSW	2	62,359,058 (GRCm39)	missense	probably damaging	1.00
R5898:Fap	UTSW	2	62,403,847 (GRCm39)	missense	probably benign
R5907:Fap	UTSW	2	62,374,700 (GRCm39)	missense	probably damaging	1.00
R5944:Fap	UTSW	2	62,372,605 (GRCm39)	missense	probably damaging	1.00
R5991:Fap	UTSW	2	62,348,865 (GRCm39)	missense	probably damaging	1.00
R6110:Fap	UTSW	2	62,385,114 (GRCm39)	missense	possibly damaging	0.91
R6270:Fap	UTSW	2	62,378,132 (GRCm39)	missense	probably damaging	0.98
R6505:Fap	UTSW	2	62,376,947 (GRCm39)	nonsense	probably null
R6631:Fap	UTSW	2	62,333,725 (GRCm39)	missense	probably damaging	1.00
R6896:Fap	UTSW	2	62,334,944 (GRCm39)	nonsense	probably null
R7138:Fap	UTSW	2	62,372,522 (GRCm39)	missense	probably benign	0.10
R7806:Fap	UTSW	2	62,333,758 (GRCm39)	missense	probably damaging	1.00
R8000:Fap	UTSW	2	62,333,142 (GRCm39)	critical splice donor site	probably null
R8115:Fap	UTSW	2	62,349,385 (GRCm39)	missense	probably benign	0.07
R8737:Fap	UTSW	2	62,342,777 (GRCm39)	missense	probably benign	0.00
R8899:Fap	UTSW	2	62,348,817 (GRCm39)	missense	probably damaging	1.00
R8924:Fap	UTSW	2	62,378,165 (GRCm39)	missense	probably benign
R8972:Fap	UTSW	2	62,378,927 (GRCm39)	missense	probably benign	0.02
R8998:Fap	UTSW	2	62,367,368 (GRCm39)	missense	probably benign	0.12
R8999:Fap	UTSW	2	62,367,368 (GRCm39)	missense	probably benign	0.12
R9418:Fap	UTSW	2	62,385,181 (GRCm39)	nonsense	probably null
R9521:Fap	UTSW	2	62,372,500 (GRCm39)	missense	probably benign
R9686:Fap	UTSW	2	62,403,857 (GRCm39)	missense	possibly damaging	0.86
X0017:Fap	UTSW	2	62,386,524 (GRCm39)	missense	probably benign	0.04
X0026:Fap	UTSW	2	62,342,734 (GRCm39)	missense	probably damaging	1.00
Z1176:Fap	UTSW	2	62,359,118 (GRCm39)	missense	possibly damaging	0.87
Z1177:Fap	UTSW	2	62,332,790 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02