Mutagenetix > Incidental Mutation

Incidental Mutation 'R5386:Faap100'

425263

Institutional Source

Beutler Lab

Gene Symbol

Faap100

Ensembl Gene

ENSMUSG00000025384

Gene Name

Fanconi anemia core complex associated protein 100

Synonyms

2310003H01Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.378) question?

Stock #

R5386 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120260388-120269572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120268458 bp (GRCm39)

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]

AlphaFold

A2ACJ2

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 134 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	G	8: 87,244,118 (GRCm39)	K1012Q	possibly damaging	Het
Afmid	G	A	11: 117,718,968 (GRCm39)	G33R	probably benign	Het
Agbl3	G	T	6: 34,776,131 (GRCm39)	W207C	probably damaging	Het
Ajuba	T	C	14: 54,807,855 (GRCm39)	Y459C	probably damaging	Het
Ak2	T	C	4: 128,901,965 (GRCm39)	S213P	probably benign	Het
Alk	T	A	17: 72,182,007 (GRCm39)	N1339Y	probably damaging	Het
Angpt1	T	C	15: 42,301,761 (GRCm39)	S416G	probably damaging	Het
Ank2	C	T	3: 126,775,582 (GRCm39)	V854M	probably benign	Het
Ankrd61	G	T	5: 143,828,482 (GRCm39)	N122K	possibly damaging	Het
Armc9	T	A	1: 86,126,011 (GRCm39)	L34Q	probably null	Het
Aspg	T	A	12: 112,089,466 (GRCm39)	V418E	probably benign	Het
Baz1b	C	T	5: 135,266,913 (GRCm39)	R1241C	probably damaging	Het
Bclaf1	T	C	10: 20,201,338 (GRCm39)	V201A	possibly damaging	Het
C1ql3	A	T	2: 13,009,169 (GRCm39)	D225E	probably damaging	Het
Capn9	A	G	8: 125,332,279 (GRCm39)	T417A	possibly damaging	Het
Card14	C	T	11: 119,208,115 (GRCm39)	R62C	probably damaging	Het
Cc2d2a	A	G	5: 43,887,383 (GRCm39)	N1271S	probably benign	Het
Ccpg1	G	A	9: 72,920,326 (GRCm39)	S647N	probably benign	Het
Cdv3	T	C	9: 103,232,429 (GRCm39)	K133R	possibly damaging	Het
Cep128	A	C	12: 90,966,345 (GRCm39)	S1087R	probably benign	Het
Cep70	T	A	9: 99,163,128 (GRCm39)	L325Q	probably damaging	Het
Chit1	T	G	1: 134,077,192 (GRCm39)	F332V	probably damaging	Het
Chodl	C	A	16: 78,743,585 (GRCm39)	T219K	probably damaging	Het
Cntn4	T	C	6: 106,158,765 (GRCm39)	L10P	possibly damaging	Het
Copg1	G	T	6: 87,867,189 (GRCm39)	M87I	possibly damaging	Het
Cplane1	G	A	15: 8,223,897 (GRCm39)	G887R	probably damaging	Het
Cyp3a59	A	G	5: 146,022,578 (GRCm39)	Y28C	probably benign	Het
Dchs1	A	C	7: 105,407,236 (GRCm39)	V2119G	probably damaging	Het
Dedd	T	C	1: 171,165,951 (GRCm39)	L23P	probably damaging	Het
Dmxl2	A	G	9: 54,286,041 (GRCm39)	S2715P	probably benign	Het
Dnah9	T	C	11: 65,920,182 (GRCm39)	N2237S	probably damaging	Het
Drosha	A	G	15: 12,842,207 (GRCm39)	I337V	probably benign	Het
Duox2	A	G	2: 122,125,617 (GRCm39)	V330A	probably benign	Het
Dusp11	T	C	6: 85,924,587 (GRCm39)	*322W	probably null	Het
Dusp8	T	A	7: 141,643,730 (GRCm39)	Q61L	possibly damaging	Het
Ears2	G	C	7: 121,643,600 (GRCm39)	T426S	probably benign	Het
Elmo1	T	C	13: 20,784,380 (GRCm39)	Y646H	probably benign	Het
Eps15	T	A	4: 109,178,422 (GRCm39)	I220K	possibly damaging	Het
Fam171a2	C	A	11: 102,328,693 (GRCm39)	V689L	possibly damaging	Het
Fam91a1	G	A	15: 58,320,243 (GRCm39)	S645N	probably benign	Het
Fancg	G	A	4: 43,007,076 (GRCm39)	Q234*	probably null	Het
Garre1	A	G	7: 33,941,813 (GRCm39)	F120L	probably damaging	Het
Gid4	T	A	11: 60,323,268 (GRCm39)		probably null	Het
Gm7361	A	C	5: 26,463,903 (GRCm39)	T53P	probably benign	Het
Golgb1	T	A	16: 36,732,677 (GRCm39)	C641*	probably null	Het
Gon4l	T	A	3: 88,765,803 (GRCm39)	M409K	probably benign	Het
Gpatch8	A	T	11: 102,399,053 (GRCm39)		probably null	Het
Gpr156	T	A	16: 37,768,671 (GRCm39)	V64E	possibly damaging	Het
Grid2	T	A	6: 63,908,089 (GRCm39)	I243K	probably damaging	Het
Gucy2g	G	A	19: 55,203,548 (GRCm39)	A750V	probably damaging	Het
Hdac5	T	C	11: 102,092,967 (GRCm39)	E590G	possibly damaging	Het
Herc3	T	A	6: 58,851,263 (GRCm39)	M504K	probably damaging	Het
Hif1a	A	G	12: 73,990,867 (GRCm39)	E713G	probably benign	Het
Hmx3	A	G	7: 131,146,033 (GRCm39)	D247G	probably damaging	Het
Hoxd11	G	T	2: 74,513,163 (GRCm39)	E143*	probably null	Het
Ifitm3	T	C	7: 140,590,554 (GRCm39)	N2S	probably benign	Het
Il17f	T	C	1: 20,848,181 (GRCm39)	Q99R	probably benign	Het
Itga6	T	A	2: 71,671,494 (GRCm39)	S341R	probably damaging	Het
Itgam	A	G	7: 127,707,152 (GRCm39)	N661S	probably benign	Het
Jag1	A	T	2: 136,937,464 (GRCm39)	H303Q	possibly damaging	Het
Kcnh8	T	A	17: 53,033,023 (GRCm39)	N103K	probably benign	Het
Kdm6b	T	C	11: 69,291,636 (GRCm39)		probably benign	Het
Keg1	A	C	19: 12,691,902 (GRCm39)	N63T	probably damaging	Het
Klf12	T	A	14: 100,137,595 (GRCm39)	H317L	probably damaging	Het
Lrp1	A	T	10: 127,427,983 (GRCm39)	V530E	probably damaging	Het
Mrgpra6	A	G	7: 46,838,629 (GRCm39)	C190R	probably damaging	Het
Myo1a	G	T	10: 127,541,766 (GRCm39)	E102*	probably null	Het
Napa	A	T	7: 15,850,397 (GRCm39)	E265D	probably benign	Het
Ncam1	A	C	9: 49,476,174 (GRCm39)	V305G	probably damaging	Het
Nek8	T	C	11: 78,061,263 (GRCm39)		probably null	Het
Or10ag53	C	T	2: 87,082,827 (GRCm39)	P182L	probably benign	Het
Or11g24	T	A	14: 50,662,846 (GRCm39)	V290E	possibly damaging	Het
Or4a70	G	T	2: 89,324,481 (GRCm39)	Y58*	probably null	Het
Or4f52	T	C	2: 111,061,539 (GRCm39)	T200A	probably benign	Het
Or52a20	T	C	7: 103,366,562 (GRCm39)	F254L	probably benign	Het
Or5ak4	T	C	2: 85,161,979 (GRCm39)	T88A	probably benign	Het
Or5h23	T	A	16: 58,906,253 (GRCm39)	M198L	probably benign	Het
Or8c11	A	T	9: 38,289,281 (GRCm39)	I29F	probably benign	Het
Or8g2b	A	G	9: 39,751,126 (GRCm39)	Y132C	possibly damaging	Het
Pabpc4	A	G	4: 123,188,790 (GRCm39)	Q417R	probably benign	Het
Panx3	A	T	9: 37,580,320 (GRCm39)	M11K	probably damaging	Het
Pcbp1	C	T	6: 86,502,471 (GRCm39)	E143K	probably damaging	Het
Pdcd7	G	A	9: 65,265,974 (GRCm39)	W477*	probably null	Het
Pi4k2a	G	A	19: 42,078,954 (GRCm39)	S5N	probably damaging	Het
Plag1	T	A	4: 3,904,075 (GRCm39)	Q372L	probably benign	Het
Plce1	C	A	19: 38,748,535 (GRCm39)	N1755K	probably damaging	Het
Pld4	G	T	12: 112,730,422 (GRCm39)	E102*	probably null	Het
Pnlip	A	G	19: 58,668,039 (GRCm39)	N345S	probably benign	Het
Ppm1e	A	T	11: 87,249,377 (GRCm39)	L118Q	possibly damaging	Het
Prkra	T	G	2: 76,469,622 (GRCm39)	T146P	probably damaging	Het
Prpf8	A	G	11: 75,386,625 (GRCm39)	D1038G	probably damaging	Het
Prss51	T	A	14: 64,334,543 (GRCm39)	V108E	probably damaging	Het
Prxl2b	T	A	4: 154,983,462 (GRCm39)	M1L	probably benign	Het
Ptch1	A	G	13: 63,692,857 (GRCm39)	Y181H	probably damaging	Het
Reln	A	G	5: 22,244,527 (GRCm39)	V817A	probably benign	Het
Rictor	C	A	15: 6,818,985 (GRCm39)	Q1403K	probably benign	Het
Rims1	T	A	1: 22,482,469 (GRCm39)	I882F	probably damaging	Het
Rnf19a	A	G	15: 36,242,185 (GRCm39)	V618A	probably benign	Het
Ryr1	A	T	7: 28,816,841 (GRCm39)	I65N	probably damaging	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Serpine2	A	T	1: 79,799,004 (GRCm39)	Y83*	probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Sgip1	T	C	4: 102,772,256 (GRCm39)	V215A	probably benign	Het
Sgsm3	T	C	15: 80,892,200 (GRCm39)	V256A	probably benign	Het
Shroom4	T	A	X: 6,497,523 (GRCm39)	C894*	probably null	Het
Slc14a2	T	A	18: 78,229,055 (GRCm39)	D306V	possibly damaging	Het
Slc28a2b	C	A	2: 122,353,259 (GRCm39)	L480I	probably benign	Het
Slc4a10	A	T	2: 62,120,402 (GRCm39)	E843V	probably damaging	Het
Smyd4	T	A	11: 75,280,982 (GRCm39)	C152S	probably damaging	Het
Snx10	T	C	6: 51,552,952 (GRCm39)	Y32H	probably damaging	Het
Sorl1	T	C	9: 41,968,580 (GRCm39)	T558A	possibly damaging	Het
Spata31d1b	G	A	13: 59,866,866 (GRCm39)	C1338Y	possibly damaging	Het
Sppl2c	T	A	11: 104,078,127 (GRCm39)	I309K	possibly damaging	Het
Stard9	A	G	2: 120,531,111 (GRCm39)	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Tecpr2	T	C	12: 110,881,887 (GRCm39)	V152A	probably damaging	Het
Tedc1	T	C	12: 113,120,302 (GRCm39)	V47A	probably benign	Het
Tep1	A	T	14: 51,105,774 (GRCm39)	L82Q	probably damaging	Het
Tgm4	A	G	9: 122,885,559 (GRCm39)	Y367C	probably damaging	Het
Tle1	C	T	4: 72,060,081 (GRCm39)	V258M	probably damaging	Het
Tm9sf1	C	T	14: 55,880,301 (GRCm39)	G32D	possibly damaging	Het
Tmco2	A	G	4: 120,963,181 (GRCm39)	L106P	probably damaging	Het
Tmem131	A	T	1: 36,911,639 (GRCm39)	C103S	possibly damaging	Het
Tmprss7	T	A	16: 45,489,891 (GRCm39)	I444F	possibly damaging	Het
Trank1	T	C	9: 111,191,470 (GRCm39)	V493A	probably benign	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Trmt6	C	A	2: 132,650,703 (GRCm39)	A302S	probably benign	Het
Ttc17	A	T	2: 94,133,985 (GRCm39)	W1067R	probably damaging	Het
Tulp4	T	A	17: 6,286,568 (GRCm39)	V1532D	probably damaging	Het
Ubqlnl	T	G	7: 103,798,424 (GRCm39)	I358L	probably benign	Het
Ulk3	T	A	9: 57,498,023 (GRCm39)	I108N	possibly damaging	Het
Vps13b	A	T	15: 35,640,674 (GRCm39)		probably null	Het
Vwa3a	A	G	7: 120,389,365 (GRCm39)	K68E	possibly damaging	Het
Zfp746	G	T	6: 48,041,110 (GRCm39)	H538N	possibly 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
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
R6285:Faap100	UTSW	11	120,267,558 (GRCm39)	missense	probably damaging	1.00
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'- GTGGCATCGACTCCAAAGAG -3'
(R):5'- TGGCTGATCCTGTGTCAAGC -3'

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

Posted On

2016-08-04