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: 0.394) question?

Stock #

R5386 (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 (GRCm38)

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
2410089E03Rik	G	A	15: 8,194,413 (GRCm38)	G887R	probably damaging	Het
4931406P16Rik	A	G	7: 34,242,388 (GRCm38)	F120L	probably damaging	Het
Abcc12	T	G	8: 86,517,489 (GRCm38)	K1012Q	possibly damaging	Het
Afmid	G	A	11: 117,828,142 (GRCm38)	G33R	probably benign	Het
Agbl3	G	T	6: 34,799,196 (GRCm38)	W207C	probably damaging	Het
Ajuba	T	C	14: 54,570,398 (GRCm38)	Y459C	probably damaging	Het
Ak2	T	C	4: 129,008,172 (GRCm38)	S213P	probably benign	Het
Alk	T	A	17: 71,875,012 (GRCm38)	N1339Y	probably damaging	Het
Angpt1	T	C	15: 42,438,365 (GRCm38)	S416G	probably damaging	Het
Ank2	C	T	3: 126,981,933 (GRCm38)	V854M	probably benign	Het
Ankrd61	G	T	5: 143,891,664 (GRCm38)	N122K	possibly damaging	Het
Armc9	T	A	1: 86,198,289 (GRCm38)	L34Q	probably null	Het
Aspg	T	A	12: 112,123,032 (GRCm38)	V418E	probably benign	Het
Baz1b	C	T	5: 135,238,059 (GRCm38)	R1241C	probably damaging	Het
Bclaf1	T	C	10: 20,325,592 (GRCm38)	V201A	possibly damaging	Het
C1ql3	A	T	2: 13,004,358 (GRCm38)	D225E	probably damaging	Het
Capn9	A	G	8: 124,605,540 (GRCm38)	T417A	possibly damaging	Het
Card14	C	T	11: 119,317,289 (GRCm38)	R62C	probably damaging	Het
Cc2d2a	A	G	5: 43,730,041 (GRCm38)	N1271S	probably benign	Het
Ccpg1	G	A	9: 73,013,044 (GRCm38)	S647N	probably benign	Het
Cdv3	T	C	9: 103,355,230 (GRCm38)	K133R	possibly damaging	Het
Cep128	A	C	12: 90,999,571 (GRCm38)	S1087R	probably benign	Het
Cep70	T	A	9: 99,281,075 (GRCm38)	L325Q	probably damaging	Het
Chit1	T	G	1: 134,149,454 (GRCm38)	F332V	probably damaging	Het
Chodl	C	A	16: 78,946,697 (GRCm38)	T219K	probably damaging	Het
Cntn4	T	C	6: 106,181,804 (GRCm38)	L10P	possibly damaging	Het
Copg1	G	T	6: 87,890,207 (GRCm38)	M87I	possibly damaging	Het
Cyp3a59	A	G	5: 146,085,768 (GRCm38)	Y28C	probably benign	Het
Dchs1	A	C	7: 105,758,029 (GRCm38)	V2119G	probably damaging	Het
Dedd	T	C	1: 171,338,383 (GRCm38)	L23P	probably damaging	Het
Dmxl2	A	G	9: 54,378,757 (GRCm38)	S2715P	probably benign	Het
Dnah9	T	C	11: 66,029,356 (GRCm38)	N2237S	probably damaging	Het
Drosha	A	G	15: 12,842,121 (GRCm38)	I337V	probably benign	Het
Duox2	A	G	2: 122,295,136 (GRCm38)	V330A	probably benign	Het
Dusp11	T	C	6: 85,947,605 (GRCm38)	*322W	probably null	Het
Dusp8	T	A	7: 142,089,993 (GRCm38)	Q61L	possibly damaging	Het
Ears2	G	C	7: 122,044,377 (GRCm38)	T426S	probably benign	Het
Elmo1	T	C	13: 20,600,210 (GRCm38)	Y646H	probably benign	Het
Eps15	T	A	4: 109,321,225 (GRCm38)	I220K	possibly damaging	Het
Fam171a2	C	A	11: 102,437,867 (GRCm38)	V689L	possibly damaging	Het
Fam213b	T	A	4: 154,899,005 (GRCm38)	M1L	probably benign	Het
Fam91a1	G	A	15: 58,448,394 (GRCm38)	S645N	probably benign	Het
Fancg	G	A	4: 43,007,076 (GRCm38)	Q234*	probably null	Het
Gid4	T	A	11: 60,432,442 (GRCm38)		probably null	Het
Gm14085	C	A	2: 122,522,778 (GRCm38)	L480I	probably benign	Het
Gm7361	A	C	5: 26,258,905 (GRCm38)	T53P	probably benign	Het
Golgb1	T	A	16: 36,912,315 (GRCm38)	C641*	probably null	Het
Gon4l	T	A	3: 88,858,496 (GRCm38)	M409K	probably benign	Het
Gpatch8	A	T	11: 102,508,227 (GRCm38)		probably null	Het
Gpr156	T	A	16: 37,948,309 (GRCm38)	V64E	possibly damaging	Het
Grid2	T	A	6: 63,931,105 (GRCm38)	I243K	probably damaging	Het
Gucy2g	G	A	19: 55,215,116 (GRCm38)	A750V	probably damaging	Het
Hdac5	T	C	11: 102,202,141 (GRCm38)	E590G	possibly damaging	Het
Herc3	T	A	6: 58,874,278 (GRCm38)	M504K	probably damaging	Het
Hif1a	A	G	12: 73,944,093 (GRCm38)	E713G	probably benign	Het
Hmx3	A	G	7: 131,544,304 (GRCm38)	D247G	probably damaging	Het
Hoxd11	G	T	2: 74,682,819 (GRCm38)	E143*	probably null	Het
Ifitm3	T	C	7: 141,010,641 (GRCm38)	N2S	probably benign	Het
Il17f	T	C	1: 20,777,957 (GRCm38)	Q99R	probably benign	Het
Itga6	T	A	2: 71,841,150 (GRCm38)	S341R	probably damaging	Het
Itgam	A	G	7: 128,107,980 (GRCm38)	N661S	probably benign	Het
Jag1	A	T	2: 137,095,544 (GRCm38)	H303Q	possibly damaging	Het
Kcnh8	T	A	17: 52,725,995 (GRCm38)	N103K	probably benign	Het
Kdm6b	T	C	11: 69,400,810 (GRCm38)		probably benign	Het
Keg1	A	C	19: 12,714,538 (GRCm38)	N63T	probably damaging	Het
Klf12	T	A	14: 99,900,159 (GRCm38)	H317L	probably damaging	Het
Lrp1	A	T	10: 127,592,114 (GRCm38)	V530E	probably damaging	Het
Mrgpra6	A	G	7: 47,188,881 (GRCm38)	C190R	probably damaging	Het
Myo1a	G	T	10: 127,705,897 (GRCm38)	E102*	probably null	Het
Napa	A	T	7: 16,116,472 (GRCm38)	E265D	probably benign	Het
Ncam1	A	C	9: 49,564,874 (GRCm38)	V305G	probably damaging	Het
Nek8	T	C	11: 78,170,437 (GRCm38)		probably null	Het
Olfr1115	C	T	2: 87,252,483 (GRCm38)	P182L	probably benign	Het
Olfr1242	G	T	2: 89,494,137 (GRCm38)	Y58*	probably null	Het
Olfr1275	T	C	2: 111,231,194 (GRCm38)	T200A	probably benign	Het
Olfr191	T	A	16: 59,085,890 (GRCm38)	M198L	probably benign	Het
Olfr243	T	C	7: 103,717,355 (GRCm38)	F254L	probably benign	Het
Olfr251	A	T	9: 38,377,985 (GRCm38)	I29F	probably benign	Het
Olfr739	T	A	14: 50,425,389 (GRCm38)	V290E	possibly damaging	Het
Olfr971	A	G	9: 39,839,830 (GRCm38)	Y132C	possibly damaging	Het
Olfr987	T	C	2: 85,331,635 (GRCm38)	T88A	probably benign	Het
Pabpc4	A	G	4: 123,294,997 (GRCm38)	Q417R	probably benign	Het
Panx3	A	T	9: 37,669,024 (GRCm38)	M11K	probably damaging	Het
Pcbp1	C	T	6: 86,525,489 (GRCm38)	E143K	probably damaging	Het
Pdcd7	G	A	9: 65,358,692 (GRCm38)	W477*	probably null	Het
Pi4k2a	G	A	19: 42,090,515 (GRCm38)	S5N	probably damaging	Het
Plag1	T	A	4: 3,904,075 (GRCm38)	Q372L	probably benign	Het
Plce1	C	A	19: 38,760,091 (GRCm38)	N1755K	probably damaging	Het
Pld4	G	T	12: 112,763,988 (GRCm38)	E102*	probably null	Het
Pnlip	A	G	19: 58,679,607 (GRCm38)	N345S	probably benign	Het
Ppm1e	A	T	11: 87,358,551 (GRCm38)	L118Q	possibly damaging	Het
Prkra	T	G	2: 76,639,278 (GRCm38)	T146P	probably damaging	Het
Prpf8	A	G	11: 75,495,799 (GRCm38)	D1038G	probably damaging	Het
Prss51	T	A	14: 64,097,094 (GRCm38)	V108E	probably damaging	Het
Ptch1	A	G	13: 63,545,043 (GRCm38)	Y181H	probably damaging	Het
Reln	A	G	5: 22,039,529 (GRCm38)	V817A	probably benign	Het
Rictor	C	A	15: 6,789,504 (GRCm38)	Q1403K	probably benign	Het
Rims1	T	A	1: 22,412,245 (GRCm38)	I882F	probably damaging	Het
Rnf19a	A	G	15: 36,242,039 (GRCm38)	V618A	probably benign	Het
Ryr1	A	T	7: 29,117,416 (GRCm38)	I65N	probably damaging	Het
S1pr2	T	C	9: 20,967,594 (GRCm38)	T313A	probably benign	Het
Serpine2	A	T	1: 79,821,287 (GRCm38)	Y83*	probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384 (GRCm38)		probably benign	Het
Sgip1	T	C	4: 102,915,059 (GRCm38)	V215A	probably benign	Het
Sgsm3	T	C	15: 81,007,999 (GRCm38)	V256A	probably benign	Het
Shroom4	T	A	X: 6,585,469 (GRCm38)	C894*	probably null	Het
Slc14a2	T	A	18: 78,185,840 (GRCm38)	D306V	possibly damaging	Het
Slc4a10	A	T	2: 62,290,058 (GRCm38)	E843V	probably damaging	Het
Smyd4	T	A	11: 75,390,156 (GRCm38)	C152S	probably damaging	Het
Snx10	T	C	6: 51,575,972 (GRCm38)	Y32H	probably damaging	Het
Sorl1	T	C	9: 42,057,284 (GRCm38)	T558A	possibly damaging	Het
Spata31d1b	G	A	13: 59,719,052 (GRCm38)	C1338Y	possibly damaging	Het
Sppl2c	T	A	11: 104,187,301 (GRCm38)	I309K	possibly damaging	Het
Stard9	A	G	2: 120,700,630 (GRCm38)	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,815,403 (GRCm38)	D16E	probably benign	Het
Tecpr2	T	C	12: 110,915,453 (GRCm38)	V152A	probably damaging	Het
Tedc1	T	C	12: 113,156,682 (GRCm38)	V47A	probably benign	Het
Tep1	A	T	14: 50,868,317 (GRCm38)	L82Q	probably damaging	Het
Tgm4	A	G	9: 123,056,494 (GRCm38)	Y367C	probably damaging	Het
Tle1	C	T	4: 72,141,844 (GRCm38)	V258M	probably damaging	Het
Tm9sf1	C	T	14: 55,642,844 (GRCm38)	G32D	possibly damaging	Het
Tmco2	A	G	4: 121,105,984 (GRCm38)	L106P	probably damaging	Het
Tmem131	A	T	1: 36,872,558 (GRCm38)	C103S	possibly damaging	Het
Tmprss7	T	A	16: 45,669,528 (GRCm38)	I444F	possibly damaging	Het
Trank1	T	C	9: 111,362,402 (GRCm38)	V493A	probably benign	Het
Trim80	A	T	11: 115,448,017 (GRCm38)	T558S	probably benign	Het
Trmt6	C	A	2: 132,808,783 (GRCm38)	A302S	probably benign	Het
Ttc17	A	T	2: 94,303,640 (GRCm38)	W1067R	probably damaging	Het
Tulp4	T	A	17: 6,236,293 (GRCm38)	V1532D	probably damaging	Het
Ubqlnl	T	G	7: 104,149,217 (GRCm38)	I358L	probably benign	Het
Ulk3	T	A	9: 57,590,740 (GRCm38)	I108N	possibly damaging	Het
Vps13b	A	T	15: 35,640,528 (GRCm38)		probably null	Het
Vwa3a	A	G	7: 120,790,142 (GRCm38)	K68E	possibly damaging	Het
Zfp746	G	T	6: 48,064,176 (GRCm38)	H538N	possibly damaging	Het

Other mutations in Faap100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Faap100	APN	11	120,372,132 (GRCm38)	missense	probably damaging	1.00
IGL02954:Faap100	APN	11	120,372,131 (GRCm38)	missense	probably damaging	1.00
IGL02799:Faap100	UTSW	11	120,370,735 (GRCm38)	missense	probably damaging	1.00
R0034:Faap100	UTSW	11	120,372,147 (GRCm38)	missense	probably benign	0.34
R0207:Faap100	UTSW	11	120,374,365 (GRCm38)	missense	probably damaging	1.00
R0432:Faap100	UTSW	11	120,373,876 (GRCm38)	splice site	probably benign
R0570:Faap100	UTSW	11	120,374,288 (GRCm38)	missense	possibly damaging	0.87
R0748:Faap100	UTSW	11	120,372,171 (GRCm38)	missense	probably damaging	0.97
R0782:Faap100	UTSW	11	120,376,704 (GRCm38)	critical splice donor site	probably null
R1218:Faap100	UTSW	11	120,378,340 (GRCm38)	missense	probably benign	0.06
R1612:Faap100	UTSW	11	120,377,088 (GRCm38)	missense	probably damaging	1.00
R1720:Faap100	UTSW	11	120,374,581 (GRCm38)	missense	probably damaging	1.00
R1758:Faap100	UTSW	11	120,377,233 (GRCm38)	missense	probably damaging	0.99
R2881:Faap100	UTSW	11	120,374,359 (GRCm38)	missense	probably damaging	1.00
R2893:Faap100	UTSW	11	120,374,625 (GRCm38)	missense	probably damaging	1.00
R3969:Faap100	UTSW	11	120,378,705 (GRCm38)	start codon destroyed	probably null	1.00
R4824:Faap100	UTSW	11	120,375,586 (GRCm38)	splice site	probably null
R4911:Faap100	UTSW	11	120,372,113 (GRCm38)	missense	probably benign	0.37
R5152:Faap100	UTSW	11	120,377,632 (GRCm38)	missense	possibly damaging	0.71
R5155:Faap100	UTSW	11	120,377,632 (GRCm38)	missense	possibly damaging	0.71
R5327:Faap100	UTSW	11	120,377,632 (GRCm38)	missense	possibly damaging	0.71
R5328:Faap100	UTSW	11	120,377,632 (GRCm38)	missense	possibly damaging	0.71
R5480:Faap100	UTSW	11	120,377,113 (GRCm38)	missense	probably damaging	1.00
R5541:Faap100	UTSW	11	120,377,632 (GRCm38)	missense	possibly damaging	0.71
R5629:Faap100	UTSW	11	120,377,011 (GRCm38)	missense	probably damaging	1.00
R5911:Faap100	UTSW	11	120,377,132 (GRCm38)	missense	possibly damaging	0.94
R6285:Faap100	UTSW	11	120,376,732 (GRCm38)	missense	probably damaging	1.00
R6350:Faap100	UTSW	11	120,374,580 (GRCm38)	missense	probably damaging	1.00
R6525:Faap100	UTSW	11	120,378,764 (GRCm38)	splice site	probably null
R7046:Faap100	UTSW	11	120,377,374 (GRCm38)	missense	possibly damaging	0.94
R7539:Faap100	UTSW	11	120,377,638 (GRCm38)	missense	possibly damaging	0.73
R7781:Faap100	UTSW	11	120,374,263 (GRCm38)	missense	probably benign	0.00
R8345:Faap100	UTSW	11	120,377,030 (GRCm38)	missense	possibly damaging	0.58
R8679:Faap100	UTSW	11	120,372,177 (GRCm38)	missense	probably damaging	1.00
R8715:Faap100	UTSW	11	120,374,473 (GRCm38)	missense	probably benign	0.13
R8942:Faap100	UTSW	11	120,377,030 (GRCm38)	missense	possibly damaging	0.58
R8956:Faap100	UTSW	11	120,377,359 (GRCm38)	missense	probably damaging	1.00
R9313:Faap100	UTSW	11	120,376,862 (GRCm38)	missense	probably damaging	1.00
R9590:Faap100	UTSW	11	120,378,719 (GRCm38)	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