Mutagenetix > Incidental Mutations

Incidental Mutation 'R5541:Faap100'

435981

Institutional Source

Beutler Lab

Gene Symbol

Faap100

Ensembl Gene

ENSMUSG00000025384

Gene Name

Fanconi anemia core complex associated protein 100

Synonyms

2310003H01Rik

MMRRC Submission

043099-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

R5541 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

120369055-120378764 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120377632 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 105 (E105V)

Ref Sequence

ENSEMBL: ENSMUSP00000026448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026448] [ENSMUST00000044271] [ENSMUST00000103017]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026448
AA Change: E105V

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
AA Change: E105V

Domain	Start	End	E-Value	Type
Pfam:FANCAA	447	879	1.4e-196	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044271

SMART Domains

Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703

Domain	Start	End	E-Value	Type
Pfam:UN_NPL4	1	80	1.1e-36	PFAM
Pfam:zf-NPL4	105	245	2.1e-64	PFAM
Pfam:NPL4	248	557	4.8e-129	PFAM
ZnF_RBZ	582	606	8.4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103017

SMART Domains

Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703

Domain	Start	End	E-Value	Type
Pfam:UN_NPL4	1	80	7e-38	PFAM
Pfam:zf-NPL4	104	246	1.1e-61	PFAM
Pfam:NPL4	248	455	1.8e-87	PFAM
Pfam:NPL4	451	525	3e-15	PFAM
ZnF_RBZ	550	574	8.4e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154826

Meta Mutation Damage Score

0.0886

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,969	H34R	probably benign	Het
1700113H08Rik	A	G	10: 87,225,946	K86R	probably benign	Het
Abca13	T	C	11: 9,291,545	V1136A	probably benign	Het
Als2cr12	A	G	1: 58,658,429	M384T	probably benign	Het
Arfgap2	G	A	2: 91,275,769	R530H	probably benign	Het
Arhgap30	T	C	1: 171,404,139		probably null	Het
Asb7	T	C	7: 66,679,269	R8G	probably benign	Het
Bod1l	T	C	5: 41,791,933	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,948,554	E227G	probably damaging	Het
Cercam	A	G	2: 29,875,629	D261G	probably benign	Het
Chd9	A	T	8: 91,051,504	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,502,839	S126R	probably damaging	Het
Defa17	T	A	8: 21,656,549	C64S	probably damaging	Het
Depdc5	A	T	5: 32,864,629		probably benign	Het
Dhx29	A	G	13: 112,940,374	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,192,988	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,145,336	Y416C	probably damaging	Het
Fbxw15	T	G	9: 109,565,430	I106L	probably benign	Het
Gm10610	A	G	7: 83,549,406		noncoding transcript	Het
Gpr22	A	G	12: 31,709,349	F258S	probably damaging	Het
Grip1	A	T	10: 120,072,718	I618F	probably damaging	Het
H2afy2	T	C	10: 61,747,717	I215V	probably benign	Het
Hspg2	C	T	4: 137,520,551	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,542,825	Q2365K	probably benign	Het
Intu	A	G	3: 40,692,587		probably null	Het
Kdm1b	T	C	13: 47,079,196	M714T	probably damaging	Het
Kif21a	A	G	15: 90,968,113	M924T	probably damaging	Het
Klb	A	T	5: 65,379,234	M636L	probably benign	Het
Klrb1a	G	A	6: 128,609,736	H219Y	probably benign	Het
March10	C	T	11: 105,390,131	D443N	probably damaging	Het
Nos1	A	G	5: 117,905,394	E578G	probably damaging	Het
Olfr1502	T	C	19: 13,861,964	I57T	probably benign	Het
Olfr887	T	C	9: 38,085,123	C96R	probably damaging	Het
Pard3b	A	G	1: 61,639,343	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,447,416	V441E	probably damaging	Het
Pde6g	A	T	11: 120,448,172	I64N	probably damaging	Het
Pdia4	C	T	6: 47,796,637	V593M	probably damaging	Het
Pnn	T	G	12: 59,071,930	V433G	possibly damaging	Het
Rbak	G	A	5: 143,173,990	S436F	probably damaging	Het
Rpl11	A	G	4: 136,052,732		probably benign	Het
Ryr1	G	T	7: 29,086,185	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,324,633	T661S	probably benign	Het
Smg1	T	A	7: 118,157,163		probably benign	Het
St8sia2	T	C	7: 73,966,900	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,398,213		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,557,970		noncoding transcript	Het
Taf1d	T	A	9: 15,308,850	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,214,026	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,669,523	T198I	probably benign	Het
Ube2q2	T	A	9: 55,191,879	V168E	possibly damaging	Het
Ucma	A	G	2: 4,981,330	R105G	probably benign	Het
Vmn2r97	C	T	17: 18,928,355	Q171*	probably null	Het
Wapl	T	C	14: 34,730,662		probably null	Het
Zfand4	T	A	6: 116,314,295	C397S	possibly damaging	Het
Zfhx3	A	G	8: 108,948,951	N2211S	probably damaging	Het
Zfp143	G	T	7: 110,070,480	G39C	probably benign	Het
Zfp568	T	A	7: 30,022,876	D414E	possibly damaging	Het
Zfp574	C	T	7: 25,081,950	A799V	probably damaging	Het

Other mutations in Faap100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Faap100	APN	11	120372132	missense	probably damaging	1.00
IGL02954:Faap100	APN	11	120372131	missense	probably damaging	1.00
IGL02799:Faap100	UTSW	11	120370735	missense	probably damaging	1.00
R0034:Faap100	UTSW	11	120372147	missense	probably benign	0.34
R0207:Faap100	UTSW	11	120374365	missense	probably damaging	1.00
R0432:Faap100	UTSW	11	120373876	splice site	probably benign
R0570:Faap100	UTSW	11	120374288	missense	possibly damaging	0.87
R0748:Faap100	UTSW	11	120372171	missense	probably damaging	0.97
R0782:Faap100	UTSW	11	120376704	critical splice donor site	probably null
R1218:Faap100	UTSW	11	120378340	missense	probably benign	0.06
R1612:Faap100	UTSW	11	120377088	missense	probably damaging	1.00
R1720:Faap100	UTSW	11	120374581	missense	probably damaging	1.00
R1758:Faap100	UTSW	11	120377233	missense	probably damaging	0.99
R2881:Faap100	UTSW	11	120374359	missense	probably damaging	1.00
R2893:Faap100	UTSW	11	120374625	missense	probably damaging	1.00
R3969:Faap100	UTSW	11	120378705	start codon destroyed	probably null	1.00
R4824:Faap100	UTSW	11	120375586	splice site	probably null
R4911:Faap100	UTSW	11	120372113	missense	probably benign	0.37
R5152:Faap100	UTSW	11	120377632	missense	possibly damaging	0.71
R5155:Faap100	UTSW	11	120377632	missense	possibly damaging	0.71
R5327:Faap100	UTSW	11	120377632	missense	possibly damaging	0.71
R5328:Faap100	UTSW	11	120377632	missense	possibly damaging	0.71
R5386:Faap100	UTSW	11	120377632	missense	possibly damaging	0.71
R5480:Faap100	UTSW	11	120377113	missense	probably damaging	1.00
R5629:Faap100	UTSW	11	120377011	missense	probably damaging	1.00
R5911:Faap100	UTSW	11	120377132	missense	possibly damaging	0.94
R6285:Faap100	UTSW	11	120376732	missense	probably damaging	1.00
R6350:Faap100	UTSW	11	120374580	missense	probably damaging	1.00
R6525:Faap100	UTSW	11	120378764	splice site	probably null
R7046:Faap100	UTSW	11	120377374	missense	possibly damaging	0.94
R7539:Faap100	UTSW	11	120377638	missense	possibly damaging	0.73
R7781:Faap100	UTSW	11	120374263	missense	probably benign	0.00
R8345:Faap100	UTSW	11	120377030	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- GTAGACCAAAGAGAGCCTCCTC -3'
(R):5'- TGGCTGATCCTGTGTCAAGC -3'

Sequencing Primer
(F):5'- GGTGCAAGTGGACAACTCC -3'
(R):5'- ATCCTGTGTCAAGCGTGTG -3'

Posted On

2016-10-24