Mutagenetix > Incidental Mutations

Incidental Mutation 'R5155:Faap100'

396681

Institutional Source

Beutler Lab

Gene Symbol

Faap100

Ensembl Gene

ENSMUSG00000025384

Gene Name

Fanconi anemia core complex associated protein 100

Synonyms

2310003H01Rik

MMRRC Submission

042737-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,490,703	I323T	probably damaging	Het
Abca13	T	C	11: 9,532,447	V4326A	probably damaging	Het
Actn4	A	G	7: 28,962,017		probably null	Het
Adamts8	A	G	9: 30,954,548	D464G	probably benign	Het
Adssl1	T	C	12: 112,638,208	I366T	probably damaging	Het
Alox12e	T	C	11: 70,316,255	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,778,330	M73K	probably benign	Het
Ap4e1	A	G	2: 127,063,369	T987A	probably benign	Het
Banp	A	C	8: 122,001,020	S318R	probably damaging	Het
Bcas1	T	C	2: 170,418,618	H47R	probably damaging	Het
Brwd1	G	T	16: 96,002,793	S2524*	probably null	Het
Cand2	T	A	6: 115,792,258	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,141,126	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,507,572	Y83F	probably benign	Het
Ccdc155	C	A	7: 45,189,654	E53*	probably null	Het
Ccdc162	A	T	10: 41,553,580		probably null	Het
Ccdc162	A	C	10: 41,579,151	S396A	probably damaging	Het
Ces1e	A	T	8: 93,201,406	*562R	probably null	Het
Clstn2	T	A	9: 97,456,431	M892L	probably benign	Het
Crybg3	T	C	16: 59,524,901	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,652,485	N326S	probably benign	Het
Cux1	G	A	5: 136,565,441		probably benign	Het
Cyb5r4	T	G	9: 87,040,403	M155R	probably benign	Het
D130043K22Rik	A	G	13: 24,872,290	D535G	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,184	T1486A	probably damaging	Het
Dnah2	G	A	11: 69,422,536	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,643,495	N272I	probably benign	Het
Dsg2	A	G	18: 20,598,658	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 138,126,743	N507K	probably benign	Het
Elavl4	T	C	4: 110,292,636	Q3R	probably null	Het
Engase	T	G	11: 118,481,281	I133S	probably benign	Het
Ercc5	T	C	1: 44,180,622	V1018A	probably damaging	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Fam8a1	G	A	13: 46,673,562	A270T	probably benign	Het
Fhdc1	T	G	3: 84,446,150	Q589H	probably benign	Het
Gatm	G	A	2: 122,609,853	T35I	probably benign	Het
Gcgr	T	C	11: 120,537,046	I271T	probably benign	Het
Gm21818	T	C	13: 120,173,553	S124P	probably benign	Het
Gm527	T	A	12: 64,923,607	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,267,384	H139R	possibly damaging	Het
Herc2	G	A	7: 56,227,826	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,035,303	S89T	probably benign	Het
Lrba	A	G	3: 86,351,300	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,728,622		probably null	Het
Map1a	G	A	2: 121,302,386	A990T	probably damaging	Het
Micall2	C	A	5: 139,710,231	L784F	probably damaging	Het
Mmp9	T	C	2: 164,949,066		probably null	Het
Mrps7	T	A	11: 115,604,829	Y64*	probably null	Het
Mslnl	C	T	17: 25,738,968	Q62*	probably null	Het
Nfil3	A	G	13: 52,968,580	L96P	probably damaging	Het
Olfr453	A	G	6: 42,744,814	Y259C	probably damaging	Het
Phf3	T	C	1: 30,824,376	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,958,988		probably null	Het
Prickle4	C	T	17: 47,690,057		probably null	Het
Prr9	T	A	3: 92,123,049	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,160,091		probably null	Het
Prrt3	A	G	6: 113,497,559		probably null	Het
Psme4	A	T	11: 30,876,806	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,713,572	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,203,147	S125P	probably damaging	Het
Rnf8	A	G	17: 29,626,630	Y65C	probably damaging	Het
Rph3a	T	C	5: 120,948,770	T456A	possibly damaging	Het
Scaper	T	A	9: 55,556,086	Q854L	probably null	Het
Sez6l2	T	C	7: 126,962,373	S472P	probably damaging	Het
Spsb3	T	C	17: 24,886,995		probably benign	Het
Srebf2	A	G	15: 82,196,226	D40G	probably damaging	Het
Sspo	A	G	6: 48,460,474	N1389D	probably benign	Het
Taf4b	G	T	18: 14,830,095	A631S	probably benign	Het
Tigd4	G	A	3: 84,594,663	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,316		probably benign	Het
Uso1	T	A	5: 92,167,335		probably null	Het
Vmn2r6	T	G	3: 64,538,514	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,412,121	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,906,965	Q44L	probably benign	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
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
R5541:Faap100	UTSW	11	120377632	missense	possibly damaging	0.71
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'- GAGTAGACCAAAGAGAGCCTCC -3'
(R):5'- TGGCTGATCCTGTGTCAAGC -3'

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

Posted On

2016-06-21