Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01420:Fap'

80418

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 #

IGL01420

Quality Score

Status

Chromosome

Chromosomal Location

62500943-62574075 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 62504502 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000402] [ENSMUST00000102732] [ENSMUST00000128139] [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

probably benign
Transcript: ENSMUST00000128139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152085

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,140,133	M457K	probably benign	Het
Acap2	A	G	16: 31,101,819		probably benign	Het
Actr6	A	T	10: 89,725,165		probably benign	Het
Adamts3	A	T	5: 89,703,057	M541K	possibly damaging	Het
Adgre4	T	C	17: 55,799,785		probably benign	Het
Anxa6	T	C	11: 54,992,363	Y481C	probably damaging	Het
Apbb1ip	A	T	2: 22,858,280	I371F	possibly damaging	Het
Arhgef10l	T	C	4: 140,570,338	D261G	probably damaging	Het
Bche	T	C	3: 73,702,009	H28R	probably benign	Het
C2cd3	T	C	7: 100,454,858	V2026A	probably benign	Het
Cacna1d	C	T	14: 30,051,638	V1697I	probably benign	Het
Celsr2	T	C	3: 108,393,763	H2738R	probably benign	Het
Celsr3	A	G	9: 108,841,190		probably null	Het
Cep152	A	T	2: 125,563,652	D1653E	possibly damaging	Het
Cfap57	T	A	4: 118,612,940	I248F	probably benign	Het
Clcnka	C	A	4: 141,389,332	R536L	probably benign	Het
Dao	T	A	5: 114,023,820		probably benign	Het
Dnajc10	T	C	2: 80,345,023	S585P	possibly damaging	Het
Dysf	C	T	6: 84,149,759	Q1333*	probably null	Het
Eps8l2	T	A	7: 141,357,663	S397T	probably benign	Het
Fbf1	T	C	11: 116,145,996	T971A	probably benign	Het
Fbxl17	C	T	17: 63,385,052	V22M	probably damaging	Het
Fundc2	T	C	X: 75,390,865		probably benign	Het
Heyl	C	A	4: 123,240,174	Q42K	probably damaging	Het
Hyal4	A	G	6: 24,755,872	K30E	probably benign	Het
Igsf10	T	C	3: 59,319,650	I2201V	probably benign	Het
Il34	T	C	8: 110,742,713	K157E	probably damaging	Het
Kcnj13	T	C	1: 87,389,044	T116A	probably damaging	Het
Lpl	T	C	8: 68,887,433		probably benign	Het
Mcm6	A	G	1: 128,345,875	L406P	probably damaging	Het
Mst1	G	A	9: 108,082,828	R328H	probably damaging	Het
Nadk2	T	C	15: 9,102,984	S308P	probably damaging	Het
Nae1	G	T	8: 104,523,165	Q225K	probably benign	Het
Ncoa6	G	A	2: 155,407,587	P1266S	probably damaging	Het
Neb	A	G	2: 52,157,377	Y6485H	probably damaging	Het
Nin	G	A	12: 70,045,414	A707V	probably benign	Het
Nmur1	T	C	1: 86,387,391	T218A	probably benign	Het
Npr3	T	C	15: 11,858,632	N135D	probably damaging	Het
Nup107	A	T	10: 117,785,021	L142Q	probably damaging	Het
Pdgfc	T	A	3: 81,141,443	S53T	probably benign	Het
Plxdc2	T	A	2: 16,650,139	V232D	probably damaging	Het
Pou2f2	T	C	7: 25,092,952	N493D	possibly damaging	Het
Rtel1	T	C	2: 181,354,401	I750T	probably benign	Het
Sbk1	A	G	7: 126,292,012		probably null	Het
Sec24d	A	G	3: 123,350,009	N603S	probably benign	Het
Slc38a10	T	A	11: 120,106,460	E736V	probably damaging	Het
Smc6	A	G	12: 11,291,658	Y559C	probably benign	Het
Sprr4	A	T	3: 92,500,384	V37E	unknown	Het
Sptbn2	A	G	19: 4,734,125	T632A	probably benign	Het
Trim31	A	G	17: 36,898,411	M20V	probably benign	Het
Trim65	C	A	11: 116,126,509	V376L	probably damaging	Het
Ttn	T	C	2: 76,712,076	D25195G	probably damaging	Het
Tysnd1	A	G	10: 61,702,051	T503A	possibly damaging	Het
Vtn	A	T	11: 78,499,374	I9L	probably benign	Het
Zfp398	A	G	6: 47,865,934	M175V	probably benign	Het

Other mutations in Fap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Fap	APN	2	62524201	missense	possibly damaging	0.82
IGL01485:Fap	APN	2	62544311	missense	possibly damaging	0.80
IGL01987:Fap	APN	2	62528676	missense	probably damaging	1.00
IGL02198:Fap	APN	2	62554798	missense	probably benign
IGL02355:Fap	APN	2	62573498	missense	probably benign	0.02
IGL02362:Fap	APN	2	62573498	missense	probably benign	0.02
IGL03227:Fap	APN	2	62530763	critical splice acceptor site	probably null
IGL03266:Fap	APN	2	62537022	missense	probably benign
IGL03369:Fap	APN	2	62503355	splice site	probably benign
IGL03406:Fap	APN	2	62542122	splice site	probably benign
mnemosyne	UTSW	2	62528714	missense	probably damaging	1.00
R1467_Fap_571	UTSW	2	62517620	missense	probably benign	0.18
R4812_Fap_496	UTSW	2	62519021	missense	probably damaging	1.00
R5661_fap_070	UTSW	2	62536963	intron	probably benign
ANU74:Fap	UTSW	2	62547769	missense	probably damaging	1.00
R0254:Fap	UTSW	2	62503402	missense	probably damaging	1.00
R0842:Fap	UTSW	2	62537001	missense	probably damaging	1.00
R1467:Fap	UTSW	2	62517620	missense	probably benign	0.18
R1467:Fap	UTSW	2	62517620	missense	probably benign	0.18
R1591:Fap	UTSW	2	62553857	missense	probably damaging	0.99
R1671:Fap	UTSW	2	62553835	missense	possibly damaging	0.46
R1674:Fap	UTSW	2	62519005	missense	probably benign
R1795:Fap	UTSW	2	62548589	missense	probably damaging	1.00
R1869:Fap	UTSW	2	62528727	missense	probably damaging	1.00
R2032:Fap	UTSW	2	62542237	missense	probably benign	0.43
R2136:Fap	UTSW	2	62524207	missense	possibly damaging	0.94
R3546:Fap	UTSW	2	62519011	missense	probably damaging	1.00
R3547:Fap	UTSW	2	62519011	missense	probably damaging	1.00
R3771:Fap	UTSW	2	62533010	missense	probably damaging	1.00
R3801:Fap	UTSW	2	62546650	missense	probably benign	0.04
R3910:Fap	UTSW	2	62556104	missense	probably damaging	1.00
R4306:Fap	UTSW	2	62530707	critical splice donor site	probably null
R4323:Fap	UTSW	2	62503372	missense	probably damaging	0.97
R4517:Fap	UTSW	2	62530715	missense	probably benign	0.01
R4793:Fap	UTSW	2	62544369	missense	probably damaging	1.00
R4812:Fap	UTSW	2	62519021	missense	probably damaging	1.00
R4843:Fap	UTSW	2	62544374	missense	probably damaging	1.00
R5281:Fap	UTSW	2	62532961	critical splice donor site	probably null
R5661:Fap	UTSW	2	62536963	intron	probably benign
R5696:Fap	UTSW	2	62502459	missense	probably damaging	1.00
R5750:Fap	UTSW	2	62528714	missense	probably damaging	1.00
R5898:Fap	UTSW	2	62573503	missense	probably benign
R5907:Fap	UTSW	2	62544356	missense	probably damaging	1.00
R5944:Fap	UTSW	2	62542261	missense	probably damaging	1.00
R5991:Fap	UTSW	2	62518521	missense	probably damaging	1.00
R6110:Fap	UTSW	2	62554770	missense	possibly damaging	0.91
R6270:Fap	UTSW	2	62547788	missense	probably damaging	0.98
R6505:Fap	UTSW	2	62546603	nonsense	probably null
R6631:Fap	UTSW	2	62503381	missense	probably damaging	1.00
R6896:Fap	UTSW	2	62504600	nonsense	probably null
R7138:Fap	UTSW	2	62542178	missense	probably benign	0.10
R7806:Fap	UTSW	2	62503414	missense	probably damaging	1.00
R8000:Fap	UTSW	2	62502798	critical splice donor site	probably null
R8115:Fap	UTSW	2	62519041	missense	probably benign	0.07
R8737:Fap	UTSW	2	62512433	missense	probably benign	0.00
R8899:Fap	UTSW	2	62518473	missense	probably damaging	1.00
R8924:Fap	UTSW	2	62547821	missense	probably benign
R8972:Fap	UTSW	2	62548583	missense	probably benign	0.02
R8998:Fap	UTSW	2	62537024	missense	probably benign	0.12
R8999:Fap	UTSW	2	62537024	missense	probably benign	0.12
R9418:Fap	UTSW	2	62554837	nonsense	probably null
R9521:Fap	UTSW	2	62542156	missense	probably benign
R9686:Fap	UTSW	2	62573513	missense	possibly damaging	0.86
X0017:Fap	UTSW	2	62556180	missense	probably benign	0.04
X0026:Fap	UTSW	2	62512390	missense	probably damaging	1.00
Z1176:Fap	UTSW	2	62528774	missense	possibly damaging	0.87
Z1177:Fap	UTSW	2	62502446	missense	probably damaging	1.00

Posted On

2013-11-05