Mutagenetix > Incidental Mutation

Incidental Mutation 'R5629:Faap100'

442005

Institutional Source

Beutler Lab

Gene Symbol

Faap100

Ensembl Gene

ENSMUSG00000025384

Gene Name

Fanconi anemia core complex associated protein 100

Synonyms

2310003H01Rik

MMRRC Submission

043280-MU

Accession Numbers

Essential gene?

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

Stock #

R5629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120260388-120269572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120267837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 312 (A312D)

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: A312D

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

SMART Domains

Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
AA Change: A312D

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,014,507 (GRCm39)	D189N	probably benign	Het
Adamts9	A	T	6: 92,775,114 (GRCm39)	V1052D	probably damaging	Het
Apob	T	C	12: 8,057,847 (GRCm39)	Y2077H	probably damaging	Het
Apol7e	A	T	15: 77,602,276 (GRCm39)	K291N	probably benign	Het
Arsk	A	T	13: 76,242,027 (GRCm39)	I82N	probably damaging	Het
Art1	A	G	7: 101,756,286 (GRCm39)	Q159R	probably benign	Het
Atp2a2	A	G	5: 122,598,159 (GRCm39)	V733A	probably damaging	Het
Btn2a2	A	T	13: 23,666,130 (GRCm39)		probably null	Het
Catsper1	C	T	19: 5,386,165 (GRCm39)	P133S	probably benign	Het
Celsr3	A	G	9: 108,726,266 (GRCm39)	D3165G	probably benign	Het
Cldn19	T	A	4: 119,114,116 (GRCm39)	V86E	probably damaging	Het
Ctnna1	T	A	18: 35,382,802 (GRCm39)	D649E	probably benign	Het
Cttnbp2	A	G	6: 18,405,217 (GRCm39)	I1094T	probably damaging	Het
Ddx24	T	C	12: 103,391,806 (GRCm39)		probably benign	Het
Ern2	T	A	7: 121,769,389 (GRCm39)	H879L	probably damaging	Het
Etv4	T	A	11: 101,662,751 (GRCm39)	H277L	probably damaging	Het
Glipr1l1	G	A	10: 111,914,308 (GRCm39)	C223Y	possibly damaging	Het
Gna14	T	C	19: 16,414,097 (GRCm39)	S14P	possibly damaging	Het
Hapln1	A	G	13: 89,749,634 (GRCm39)	T60A	probably damaging	Het
Hars2	T	A	18: 36,921,719 (GRCm39)	Y273*	probably null	Het
Ighv5-6	A	T	12: 113,589,242 (GRCm39)	Y79*	probably null	Het
Iqgap2	T	A	13: 95,768,682 (GRCm39)	N1406I	probably damaging	Het
Kalrn	T	C	16: 33,860,304 (GRCm39)	T215A	possibly damaging	Het
Krtap13-1	T	A	16: 88,526,047 (GRCm39)	S90R	probably benign	Het
Mettl8	T	C	2: 70,795,913 (GRCm39)	I372V	probably benign	Het
Mfn1	A	T	3: 32,615,659 (GRCm39)	T341S	possibly damaging	Het
Mocos	T	A	18: 24,797,142 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,036 (GRCm39)	S2661P	possibly damaging	Het
Myo15a	C	T	11: 60,370,578 (GRCm39)	P1113S	probably benign	Het
Myo5a	A	T	9: 75,111,127 (GRCm39)	I1540F	possibly damaging	Het
Myoc	T	C	1: 162,476,156 (GRCm39)	Y287H	probably damaging	Het
Napepld	A	G	5: 21,880,901 (GRCm39)	F165L	probably benign	Het
Ndufb10	T	C	17: 24,941,656 (GRCm39)	E102G	probably damaging	Het
Nrros	T	A	16: 31,963,223 (GRCm39)	I265F	probably damaging	Het
Nrxn1	A	T	17: 90,897,460 (GRCm39)	F891I	possibly damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Oas2	G	A	5: 120,876,516 (GRCm39)	Q476*	probably null	Het
Or51f5	A	T	7: 102,423,847 (GRCm39)	I39F	possibly damaging	Het
Pcnx2	C	A	8: 126,624,780 (GRCm39)	W14L	probably damaging	Het
Pip4p1	T	C	14: 51,165,373 (GRCm39)	H278R	probably benign	Het
Piwil2	C	T	14: 70,660,416 (GRCm39)	V70M	probably damaging	Het
Prss23	A	C	7: 89,159,400 (GRCm39)	V223G	probably damaging	Het
Rarres2	A	T	6: 48,547,194 (GRCm39)	L122Q	probably benign	Het
Robo1	T	C	16: 72,780,598 (GRCm39)	V776A	probably benign	Het
Robo3	G	A	9: 37,330,507 (GRCm39)	Q1008*	probably null	Het
Robo4	G	A	9: 37,319,658 (GRCm39)	C636Y	probably damaging	Het
Sacm1l	A	G	9: 123,395,464 (GRCm39)	M196V	probably benign	Het
Septin7	T	A	9: 25,199,589 (GRCm39)	Y163N	probably damaging	Het
Skint6	G	A	4: 112,870,176 (GRCm39)	T594I	possibly damaging	Het
Slc23a1	T	C	18: 35,759,545 (GRCm39)	H13R	probably benign	Het
Slc25a39	A	C	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc8a3	G	A	12: 81,246,405 (GRCm39)	R883C	probably damaging	Het
Spag17	A	T	3: 99,987,435 (GRCm39)	Y1575F	probably benign	Het
Spdye4c	T	A	2: 128,438,705 (GRCm39)	I321N	probably damaging	Het
Stk32b	G	A	5: 37,614,576 (GRCm39)	P311S	probably damaging	Het
Svs3a	T	A	2: 164,132,040 (GRCm39)	S203T	probably benign	Het
Taf3	A	T	2: 9,922,989 (GRCm39)	I45N	probably damaging	Het
Taf7	T	C	18: 37,776,555 (GRCm39)	N4S	probably benign	Het
Tial1	T	A	7: 128,046,421 (GRCm39)	D87V	probably damaging	Het
Tmem120a	T	A	5: 135,770,904 (GRCm39)	E78V	probably benign	Het
Tmem19	A	G	10: 115,183,165 (GRCm39)	F137L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trim30d	T	C	7: 104,137,136 (GRCm39)	K23E	possibly damaging	Het
Ubxn7	C	A	16: 32,151,117 (GRCm39)	H4Q	unknown	Het
Usp40	C	T	1: 87,908,731 (GRCm39)	R590H	probably benign	Het
Vmn1r90	A	G	7: 14,296,011 (GRCm39)	M22T	possibly damaging	Het
Vmn2r1	G	A	3: 64,012,538 (GRCm39)	V800M	possibly damaging	Het
Vps11	A	T	9: 44,267,673 (GRCm39)	I313N	probably damaging	Het
Zhx1	A	G	15: 57,918,207 (GRCm39)	V13A	probably damaging	Het
Zic4	G	A	9: 91,260,805 (GRCm39)	R20H	probably benign	Het
Zp3r	C	T	1: 130,510,616 (GRCm39)	V369M	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
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'- GGTTCCAAGGACTGTCTCTC -3'
(R):5'- CCTGATGGCCAGCTTTGTTG -3'

Sequencing Primer
(F):5'- AAGGACTGTCTCTCCGAGTCAAG -3'
(R):5'- GTCCTGAAGGCCTTGGTTAC -3'

Posted On

2016-11-08