Mutagenetix > Incidental Mutations

Incidental Mutation 'R0034:Faap100'

64597

Institutional Source

Beutler Lab

Gene Symbol

Faap100

Ensembl Gene

ENSMUSG00000025384

Gene Name

Fanconi anemia core complex associated protein 100

Synonyms

2310003H01Rik

MMRRC Submission

038328-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0034 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

120369055-120378764 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120372147 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 795 (M795K)

Ref Sequence

ENSEMBL: ENSMUSP00000026448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026445] [ENSMUST00000026448]

Predicted Effect

probably benign
Transcript: ENSMUST00000026445

SMART Domains

Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380

Domain	Start	End	E-Value	Type
Pfam:Fascin	20	133	4.9e-34	PFAM
Pfam:Fascin	141	254	1.2e-26	PFAM
Pfam:Fascin	266	376	8.9e-35	PFAM
Pfam:Fascin	389	492	4.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026448
AA Change: M795K

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
AA Change: M795K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154826

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (64/65)

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
2700081O15Rik	C	A	19: 7,420,359	H90Q	probably damaging	Het
4930402H24Rik	T	C	2: 130,736,572	H664R	probably damaging	Het
9430038I01Rik	C	T	7: 137,387,592	R60Q	probably benign	Het
Angpt4	C	T	2: 151,929,391	T209I	probably benign	Het
Ap3b1	T	C	13: 94,479,885		probably benign	Het
Aplp1	A	C	7: 30,444,442	V56G	probably damaging	Het
Asns	G	A	6: 7,676,299	P419L	probably damaging	Het
Atxn7	A	T	14: 14,100,846	H844L	probably damaging	Het
Cd14	A	G	18: 36,726,235	Y56H	probably benign	Het
Cd300lb	C	T	11: 114,928,399	V135I	probably damaging	Het
Cep152	C	T	2: 125,583,893	A851T	probably benign	Het
Cfap74	C	T	4: 155,460,887		probably benign	Het
Col28a1	T	A	6: 8,175,708	I47L	probably benign	Het
Eef1d	T	C	15: 75,902,959	T200A	probably benign	Het
Gabpb1	C	T	2: 126,658,534	R15Q	possibly damaging	Het
Gata4	C	A	14: 63,201,484	M381I	probably benign	Het
Gm5114	A	G	7: 39,408,858	S446P	possibly damaging	Het
Gm7271	A	G	5: 76,516,530	I155M	probably damaging	Het
Gnb1	T	A	4: 155,551,689	N155K	probably benign	Het
Haspin	G	A	11: 73,138,218	T15M	probably damaging	Het
Heatr5a	A	G	12: 51,925,172	L745P	probably damaging	Het
Kcng3	T	A	17: 83,588,383		probably benign	Het
Kif15	A	T	9: 122,999,285	N887I	possibly damaging	Het
Kif26a	T	C	12: 112,168,963		probably benign	Het
Kif9	G	A	9: 110,519,611	C738Y	probably benign	Het
Kifc2	G	T	15: 76,667,100	C613F	probably benign	Het
Klf12	A	G	14: 99,987,429		probably null	Het
Lrp1	A	T	10: 127,545,651	I3826N	probably benign	Het
Map2k4	A	G	11: 65,719,611		probably benign	Het
Myo7b	A	G	18: 31,960,860	S2006P	probably damaging	Het
Olfr631	T	C	7: 103,929,501	V226A	probably benign	Het
Pax4	T	C	6: 28,442,449	T285A	probably benign	Het
Pcdhb5	A	G	18: 37,322,084	N506D	probably damaging	Het
Pkhd1l1	G	A	15: 44,504,009	G768S	probably benign	Het
Plb1	G	T	5: 32,273,113	G138V	probably benign	Het
Poln	A	C	5: 34,115,418	V398G	possibly damaging	Het
Poteg	A	G	8: 27,462,077		probably benign	Het
Rapgef1	C	A	2: 29,724,768		probably benign	Het
Rbm43	A	T	2: 51,925,710	D166E	probably benign	Het
Rhobtb2	T	C	14: 69,788,688	T602A	probably benign	Het
Samd3	G	A	10: 26,271,500		probably benign	Het
Sbno2	A	C	10: 80,058,340		probably benign	Het
Sec1	A	G	7: 45,679,335	V96A	probably benign	Het
Senp7	A	C	16: 56,153,570	S385R	possibly damaging	Het
Sgk3	T	C	1: 9,885,677	V301A	probably damaging	Het
Sgpl1	A	T	10: 61,102,613	M467K	probably damaging	Het
Slc22a26	A	G	19: 7,802,253	I66T	probably benign	Het
Stra6	G	A	9: 58,151,469		probably null	Het
Tfrc	T	A	16: 32,615,396		probably null	Het
Tmem30b	T	C	12: 73,546,005	Y112C	probably damaging	Het
Trap1	A	T	16: 4,069,030		probably benign	Het
Trpc1	A	G	9: 95,749,761	S43P	probably damaging	Het
Tsku	T	C	7: 98,352,663	T154A	possibly damaging	Het
Uroc1	T	C	6: 90,345,310	V272A	probably damaging	Het
Vmn1r69	T	A	7: 10,580,811		probably benign	Het
Vmn2r1	T	A	3: 64,090,014	W364R	probably damaging	Het
Wnk2	G	T	13: 49,068,080	T377K	possibly damaging	Het
Zscan20	T	C	4: 128,585,662	N1012S	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
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
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'- TTTCACAGGGGCTGACAGGACATC -3'
(R):5'- GCCTGTAGTTAGCACAGGAAGGAC -3'

Sequencing Primer
(F):5'- ACATCTGGAGGGGCATCTTG -3'
(R):5'- CTTCCTGTCATGGAGCCAAGTATAG -3'

Posted On

2013-08-06