Mutagenetix > Incidental Mutation

Incidental Mutation 'R6285:Faap100'

508198

Institutional Source

Beutler Lab

Gene Symbol

Faap100

Ensembl Gene

ENSMUSG00000025384

Gene Name

Fanconi anemia core complex associated protein 100

Synonyms

2310003H01Rik

MMRRC Submission

044455-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.386) question?

Stock #

R6285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120260388-120269572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120267558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 405 (L405Q)

Ref Sequence

ENSEMBL: ENSMUSP00000026448 (fasta)

Gene Model

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

AlphaFold

A2ACJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000026448
AA Change: L405Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
AA Change: L405Q

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: ENSMUST00000148520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154826

Meta Mutation Damage Score

0.4621

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,324 (GRCm39)	M370L	probably benign	Het
Aimp1	A	G	3: 132,373,265 (GRCm39)	M225T	possibly damaging	Het
Atp8a1	T	C	5: 67,824,950 (GRCm39)	I809V	possibly damaging	Het
Bbs10	A	G	10: 111,135,622 (GRCm39)	Y245C	probably damaging	Het
Cabin1	A	T	10: 75,520,157 (GRCm39)	F1572Y	probably damaging	Het
Cd79a	A	G	7: 24,598,772 (GRCm39)	N107S	possibly damaging	Het
Cdc7	G	A	5: 107,130,925 (GRCm39)	A428T	probably benign	Het
Cep290	A	G	10: 100,359,191 (GRCm39)	T974A	probably benign	Het
Cep350	A	T	1: 155,829,120 (GRCm39)	N261K	possibly damaging	Het
Cfap46	T	A	7: 139,241,001 (GRCm39)	D8V	probably damaging	Het
Col6a4	T	C	9: 105,952,185 (GRCm39)	D571G	probably damaging	Het
Cpe	A	C	8: 65,070,645 (GRCm39)	V200G	probably benign	Het
Ctnnd1	C	T	2: 84,444,231 (GRCm39)		probably null	Het
D5Ertd579e	A	C	5: 36,772,921 (GRCm39)	C491W	probably damaging	Het
Dek	A	G	13: 47,252,856 (GRCm39)	I183T	probably damaging	Het
Dennd1a	A	T	2: 37,742,453 (GRCm39)	H437Q	possibly damaging	Het
Dido1	C	T	2: 180,302,940 (GRCm39)	A1655T	probably benign	Het
Eva1b	A	G	4: 126,043,278 (GRCm39)	D106G	probably damaging	Het
Evc2	G	T	5: 37,581,923 (GRCm39)	S1189I	possibly damaging	Het
Fbxw15	T	A	9: 109,386,234 (GRCm39)	M249L	probably benign	Het
Gbp10	A	T	5: 105,366,326 (GRCm39)	L526Q	probably damaging	Het
Gm19402	A	C	10: 77,526,354 (GRCm39)		probably benign	Het
Gm2244	A	G	14: 19,590,865 (GRCm39)	Y141H	probably damaging	Het
Gm4181	A	T	14: 51,870,666 (GRCm39)	N98K	probably damaging	Het
Golga4	C	T	9: 118,387,695 (GRCm39)	R616*	probably null	Het
Gpank1	T	A	17: 35,343,266 (GRCm39)	S226T	probably damaging	Het
Hipk3	T	C	2: 104,301,770 (GRCm39)	M141V	probably damaging	Het
Hoxc11	T	C	15: 102,863,178 (GRCm39)	V73A	probably benign	Het
Igf1r	T	G	7: 67,653,885 (GRCm39)	I141S	possibly damaging	Het
Jak2	T	A	19: 29,273,059 (GRCm39)	F628I	probably benign	Het
Kcp	C	A	6: 29,502,364 (GRCm39)	V227L	probably benign	Het
Knl1	T	G	2: 118,902,422 (GRCm39)	C1374W	probably damaging	Het
Larp6	A	T	9: 60,645,043 (GRCm39)	R394S	probably benign	Het
Lilra5	G	A	7: 4,245,114 (GRCm39)	G253R	probably damaging	Het
Map3k4	A	G	17: 12,482,945 (GRCm39)	S591P	probably damaging	Het
Mdfic2	T	C	6: 98,215,134 (GRCm39)	D163G	probably damaging	Het
Minar2	A	G	18: 59,205,296 (GRCm39)	K28R	probably benign	Het
Mrpl16	T	A	19: 11,750,332 (GRCm39)	I72K	probably damaging	Het
Nol11	C	G	11: 107,071,860 (GRCm39)	R244S	probably benign	Het
Nr2f1	T	C	13: 78,343,782 (GRCm39)	T161A	probably benign	Het
Nrdc	G	T	4: 108,895,203 (GRCm39)	V476F	probably damaging	Het
Or10j7	G	T	1: 173,011,477 (GRCm39)	H175N	probably damaging	Het
Or10z1	A	T	1: 174,078,395 (GRCm39)	S33T	possibly damaging	Het
Or13a22	T	A	7: 140,072,626 (GRCm39)	L25Q	possibly damaging	Het
Or13m2-ps1	A	T	6: 42,777,843 (GRCm39)	H56L	probably benign	Het
P2rx1	A	G	11: 72,898,974 (GRCm39)	I62V	probably benign	Het
Pcdhgc5	A	T	18: 37,953,674 (GRCm39)	Y316F	probably benign	Het
Pecam1	T	C	11: 106,576,065 (GRCm39)	D490G	probably benign	Het
Pfkfb2	A	T	1: 130,635,299 (GRCm39)	Y87*	probably null	Het
Poldip2	A	G	11: 78,408,458 (GRCm39)		probably null	Het
Ppp2r5b	T	A	19: 6,280,566 (GRCm39)	Q304L	probably benign	Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Psg26	A	G	7: 18,216,753 (GRCm39)	F29L	probably benign	Het
Ptk6	A	T	2: 180,838,886 (GRCm39)	L289Q	probably null	Het
Ptprt	A	T	2: 161,743,417 (GRCm39)	I508N	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,808 (GRCm39)	F406S	probably damaging	Het
Rspo3	A	G	10: 29,375,926 (GRCm39)		probably null	Het
Septin8	G	T	11: 53,425,594 (GRCm39)		probably null	Het
Sirt2	A	C	7: 28,487,471 (GRCm39)	T345P	probably benign	Het
Slc6a20b	T	C	9: 123,438,161 (GRCm39)	E205G	possibly damaging	Het
Sqstm1	G	A	11: 50,093,418 (GRCm39)	Q327*	probably null	Het
Susd3	T	A	13: 49,390,997 (GRCm39)	S98C	probably damaging	Het
Tada2b	G	A	5: 36,634,186 (GRCm39)	R56W	probably damaging	Het
Tbc1d2	A	T	4: 46,615,045 (GRCm39)	V546E	possibly damaging	Het
Tbx6	A	G	7: 126,380,740 (GRCm39)	Q21R	possibly damaging	Het
Usp24	T	G	4: 106,231,297 (GRCm39)		probably null	Het
Vinac1	T	G	2: 128,879,719 (GRCm39)	T736P	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,406 (GRCm39)	T727A	probably benign	Het
Wdr48	C	T	9: 119,749,676 (GRCm39)	T531M	probably damaging	Het

Other mutations in Faap100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Faap100	APN	11	120,262,958 (GRCm39)	missense	probably damaging	1.00
IGL02954:Faap100	APN	11	120,262,957 (GRCm39)	missense	probably damaging	1.00
IGL02799:Faap100	UTSW	11	120,261,561 (GRCm39)	missense	probably damaging	1.00
R0034:Faap100	UTSW	11	120,262,973 (GRCm39)	missense	probably benign	0.34
R0207:Faap100	UTSW	11	120,265,191 (GRCm39)	missense	probably damaging	1.00
R0432:Faap100	UTSW	11	120,264,702 (GRCm39)	splice site	probably benign
R0570:Faap100	UTSW	11	120,265,114 (GRCm39)	missense	possibly damaging	0.87
R0748:Faap100	UTSW	11	120,262,997 (GRCm39)	missense	probably damaging	0.97
R0782:Faap100	UTSW	11	120,267,530 (GRCm39)	critical splice donor site	probably null
R1218:Faap100	UTSW	11	120,269,166 (GRCm39)	missense	probably benign	0.06
R1612:Faap100	UTSW	11	120,267,914 (GRCm39)	missense	probably damaging	1.00
R1720:Faap100	UTSW	11	120,265,407 (GRCm39)	missense	probably damaging	1.00
R1758:Faap100	UTSW	11	120,268,059 (GRCm39)	missense	probably damaging	0.99
R2881:Faap100	UTSW	11	120,265,185 (GRCm39)	missense	probably damaging	1.00
R2893:Faap100	UTSW	11	120,265,451 (GRCm39)	missense	probably damaging	1.00
R3969:Faap100	UTSW	11	120,269,531 (GRCm39)	start codon destroyed	probably null	1.00
R4824:Faap100	UTSW	11	120,266,412 (GRCm39)	splice site	probably null
R4911:Faap100	UTSW	11	120,262,939 (GRCm39)	missense	probably benign	0.37
R5152:Faap100	UTSW	11	120,268,458 (GRCm39)	missense	possibly damaging	0.71
R5155:Faap100	UTSW	11	120,268,458 (GRCm39)	missense	possibly damaging	0.71
R5327:Faap100	UTSW	11	120,268,458 (GRCm39)	missense	possibly damaging	0.71
R5328:Faap100	UTSW	11	120,268,458 (GRCm39)	missense	possibly damaging	0.71
R5386:Faap100	UTSW	11	120,268,458 (GRCm39)	missense	possibly damaging	0.71
R5480:Faap100	UTSW	11	120,267,939 (GRCm39)	missense	probably damaging	1.00
R5541:Faap100	UTSW	11	120,268,458 (GRCm39)	missense	possibly damaging	0.71
R5629:Faap100	UTSW	11	120,267,837 (GRCm39)	missense	probably damaging	1.00
R5911:Faap100	UTSW	11	120,267,958 (GRCm39)	missense	possibly damaging	0.94
R6350:Faap100	UTSW	11	120,265,406 (GRCm39)	missense	probably damaging	1.00
R6525:Faap100	UTSW	11	120,269,590 (GRCm39)	splice site	probably null
R7046:Faap100	UTSW	11	120,268,200 (GRCm39)	missense	possibly damaging	0.94
R7539:Faap100	UTSW	11	120,268,464 (GRCm39)	missense	possibly damaging	0.73
R7781:Faap100	UTSW	11	120,265,089 (GRCm39)	missense	probably benign	0.00
R8345:Faap100	UTSW	11	120,267,856 (GRCm39)	missense	possibly damaging	0.58
R8679:Faap100	UTSW	11	120,263,003 (GRCm39)	missense	probably damaging	1.00
R8715:Faap100	UTSW	11	120,265,299 (GRCm39)	missense	probably benign	0.13
R8942:Faap100	UTSW	11	120,267,856 (GRCm39)	missense	possibly damaging	0.58
R8956:Faap100	UTSW	11	120,268,185 (GRCm39)	missense	probably damaging	1.00
R9313:Faap100	UTSW	11	120,267,688 (GRCm39)	missense	probably damaging	1.00
R9590:Faap100	UTSW	11	120,269,545 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGAGTGAGTGAACTTCTGGTC -3'
(R):5'- AGCTGCGTGAGTATTGCCTC -3'

Sequencing Primer
(F):5'- AACTTCTGGTCTGTGATGAGCC -3'
(R):5'- TGAGTATTGCCTCCCAGGG -3'

Posted On

2018-03-15