Mutagenetix > Incidental Mutation

Incidental Mutation 'R4782:Fanca'

366613

Institutional Source

Beutler Lab

Gene Symbol

Fanca

Ensembl Gene

ENSMUSG00000032815

Gene Name

Fanconi anemia, complementation group A

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

R4782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123995039-124045315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124014941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 689 (V689A)

Ref Sequence

ENSEMBL: ENSMUSP00000116614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035495] [ENSMUST00000127664] [ENSMUST00000127904]

AlphaFold

Q9JL70

Predicted Effect

probably damaging
Transcript: ENSMUST00000035495
AA Change: V787A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815
AA Change: V787A

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	78	100	N/A	INTRINSIC
Pfam:Fanconi_A_N	167	520	3.7e-146	PFAM
low complexity region	645	660	N/A	INTRINSIC
low complexity region	778	790	N/A	INTRINSIC
low complexity region	1069	1079	N/A	INTRINSIC
low complexity region	1200	1225	N/A	INTRINSIC
Pfam:Fanconi_A	1246	1308	8.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000127904
AA Change: V689A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116614
Gene: ENSMUSG00000032815
AA Change: V689A

Domain	Start	End	E-Value	Type
low complexity region	547	562	N/A	INTRINSIC
low complexity region	680	692	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212953

Meta Mutation Damage Score

0.1889

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,278,096 (GRCm39)	E3092G	probably damaging	Het
Abhd12b	C	G	12: 70,215,838 (GRCm39)	S170C	probably damaging	Het
Abtb2	A	T	2: 103,547,644 (GRCm39)	D1006V	probably benign	Het
Abtb3	A	C	10: 85,490,414 (GRCm39)	I1027L	probably damaging	Het
Adgrl1	A	G	8: 84,662,202 (GRCm39)	H1021R	probably benign	Het
Ago3	A	T	4: 126,241,665 (GRCm39)		probably null	Het
Ahnak	A	G	19: 8,989,863 (GRCm39)		probably benign	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Amotl2	T	G	9: 102,597,322 (GRCm39)		probably null	Het
Ankrd34b	T	A	13: 92,574,813 (GRCm39)	I15N	probably damaging	Het
Ap3d1	C	T	10: 80,557,420 (GRCm39)		probably null	Het
Appl2	A	T	10: 83,436,855 (GRCm39)	D635E	probably damaging	Het
Arid1b	C	T	17: 5,389,496 (GRCm39)	P1681S	probably damaging	Het
Atp10a	T	C	7: 58,440,843 (GRCm39)	M496T	probably benign	Het
Atp2c2	A	G	8: 120,475,891 (GRCm39)	K595E	probably damaging	Het
Atpaf2	T	C	11: 60,295,238 (GRCm39)	H204R	probably damaging	Het
Atr	G	A	9: 95,744,850 (GRCm39)	V56I	probably benign	Het
Bod1l	G	A	5: 41,991,006 (GRCm39)	T183I	probably benign	Het
Ccdc168	T	C	1: 44,098,203 (GRCm39)	D965G	possibly damaging	Het
Ccdc171	A	T	4: 83,599,253 (GRCm39)	E689D	probably damaging	Het
Cdc73	T	A	1: 143,503,613 (GRCm39)	Q346L	probably benign	Het
Cert1	T	C	13: 96,748,773 (GRCm39)	V281A	probably benign	Het
Chd2	A	T	7: 73,134,184 (GRCm39)	M721K	possibly damaging	Het
Col22a1	T	A	15: 71,673,774 (GRCm39)	T981S	unknown	Het
Cpox	G	A	16: 58,492,986 (GRCm39)	A207T	probably damaging	Het
Cym	G	A	3: 107,123,413 (GRCm39)	T160I	possibly damaging	Het
D130043K22Rik	T	C	13: 25,062,023 (GRCm39)	I664T	probably damaging	Het
Ddx4	C	T	13: 112,750,230 (GRCm39)		probably null	Het
Ddx4	A	T	13: 112,787,894 (GRCm39)	V15E	probably benign	Het
Depdc1a	G	A	3: 159,232,273 (GRCm39)	E675K	probably damaging	Het
Dglucy	A	T	12: 100,816,602 (GRCm39)	M415L	probably benign	Het
Dlg4	C	T	11: 69,917,780 (GRCm39)	P21L	probably damaging	Het
Dmxl1	A	T	18: 49,996,059 (GRCm39)	N395I	probably damaging	Het
Dzank1	A	T	2: 144,346,319 (GRCm39)	C249S	probably damaging	Het
Efnb2	A	T	8: 8,673,104 (GRCm39)		probably null	Het
Ercc6l2	T	G	13: 63,982,552 (GRCm39)	I244S	probably damaging	Het
Ewsr1	A	T	11: 5,020,423 (GRCm39)	M584K	unknown	Het
Fam193b	A	G	13: 55,691,284 (GRCm39)	S197P	probably damaging	Het
Fbxo31	A	T	8: 122,279,178 (GRCm39)	Y436*	probably null	Het
Fbxo31	A	G	8: 122,279,180 (GRCm39)	Y436H	probably damaging	Het
Fcna	T	A	2: 25,515,338 (GRCm39)	D215V	probably damaging	Het
Foxj3	A	T	4: 119,478,857 (GRCm39)	S438C	unknown	Het
Gcm2	T	C	13: 41,256,970 (GRCm39)	K260E	possibly damaging	Het
Gcnt4	A	T	13: 97,083,914 (GRCm39)	L403F	possibly damaging	Het
Gdf10	A	G	14: 33,653,870 (GRCm39)	T126A	probably benign	Het
Ggcx	A	G	6: 72,405,875 (GRCm39)	K569E	probably benign	Het
Gm10250	C	T	15: 5,150,578 (GRCm39)		probably benign	Het
Gpnmb	G	T	6: 49,022,417 (GRCm39)		probably null	Het
Ifi44	G	A	3: 151,451,229 (GRCm39)	P241S	probably damaging	Het
Irs1	T	C	1: 82,265,184 (GRCm39)	T1011A	probably benign	Het
Jag2	A	T	12: 112,877,869 (GRCm39)	S595T	probably benign	Het
Kif5a	T	A	10: 127,066,823 (GRCm39)	Q960L	probably benign	Het
Kifc2	A	G	15: 76,548,548 (GRCm39)	E430G	possibly damaging	Het
Lama3	T	A	18: 12,544,627 (GRCm39)	C323*	probably null	Het
Lgsn	T	C	1: 31,242,823 (GRCm39)	Y302H	probably benign	Het
Lmbrd1	G	A	1: 24,784,056 (GRCm39)		probably null	Het
Lrpap1	A	G	5: 35,256,622 (GRCm39)	V120A	probably damaging	Het
Macrod2	T	A	2: 140,261,858 (GRCm39)	D46E	possibly damaging	Het
Mbd4	C	A	6: 115,822,283 (GRCm39)	R63L	possibly damaging	Het
Mfsd10	T	C	5: 34,792,293 (GRCm39)		probably benign	Het
Mib2	G	T	4: 155,744,229 (GRCm39)	S144R	probably benign	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Ndufs1	C	A	1: 63,200,108 (GRCm39)	G268V	probably damaging	Het
Nfs1	A	G	2: 155,976,369 (GRCm39)	V175A	possibly damaging	Het
Ngb	G	A	12: 87,146,999 (GRCm39)	H73Y	probably benign	Het
Npepps	G	A	11: 97,117,652 (GRCm39)	T549I	probably damaging	Het
Nr1h2	A	G	7: 44,199,923 (GRCm39)	V329A	possibly damaging	Het
Nsun6	T	C	2: 15,041,137 (GRCm39)	I151M	possibly damaging	Het
Ofcc1	T	C	13: 40,155,368 (GRCm39)		probably null	Het
Or1e31	C	T	11: 73,689,665 (GRCm39)	C306Y	probably benign	Het
Or2y16	T	A	11: 49,334,696 (GRCm39)	F6Y	probably benign	Het
Or2z8	A	G	8: 72,811,938 (GRCm39)	N138S	probably benign	Het
Or51h1	T	A	7: 102,308,041 (GRCm39)	N4K	possibly damaging	Het
Or5an1c	C	T	19: 12,218,936 (GRCm39)	V30I	probably benign	Het
Or8b46	A	G	9: 38,450,371 (GRCm39)	Y60C	probably damaging	Het
Parp6	A	G	9: 59,542,267 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,245,411 (GRCm39)	R1075S	possibly damaging	Het
Pla2g4f	T	C	2: 120,133,757 (GRCm39)	E548G	probably damaging	Het
Polrmt	G	T	10: 79,575,357 (GRCm39)	H725N	probably benign	Het
Pou2f3	T	C	9: 43,051,153 (GRCm39)	T178A	probably damaging	Het
Prtn3	C	A	10: 79,717,899 (GRCm39)	P169H	probably damaging	Het
Ptprd	A	G	4: 76,009,769 (GRCm39)	I764T	probably benign	Het
Ptprh	A	T	7: 4,572,576 (GRCm39)	H467Q	probably benign	Het
Raph1	A	T	1: 60,528,273 (GRCm39)	I996N	probably damaging	Het
Rasa4	G	A	5: 136,120,083 (GRCm39)	W53*	probably null	Het
Rasgrp1	C	T	2: 117,115,356 (GRCm39)	R744Q	probably benign	Het
Rmnd5a	T	C	6: 71,390,333 (GRCm39)	E141G	probably damaging	Het
Rps12	T	C	10: 23,662,688 (GRCm39)	I51M	possibly damaging	Het
Scn10a	T	G	9: 119,451,976 (GRCm39)	S1316R	possibly damaging	Het
Sdhb	A	G	4: 140,704,777 (GRCm39)	H246R	possibly damaging	Het
Setx	G	A	2: 29,034,058 (GRCm39)	R332Q	probably damaging	Het
Siglec1	A	C	2: 130,917,843 (GRCm39)	S1011R	probably damaging	Het
Sin3b	A	C	8: 73,452,271 (GRCm39)	I126L	probably benign	Het
Slc11a1	T	G	1: 74,423,247 (GRCm39)	L366R	probably damaging	Het
Slc12a1	C	T	2: 125,002,999 (GRCm39)	R177*	probably null	Het
Slc30a1	A	C	1: 191,641,160 (GRCm39)	K269Q	probably benign	Het
Slco1a5	T	C	6: 142,194,533 (GRCm39)	Y370C	possibly damaging	Het
Slf2	T	A	19: 44,923,364 (GRCm39)		probably null	Het
Sltm	A	G	9: 70,496,339 (GRCm39)	H958R	probably damaging	Het
Snrnp40	A	G	4: 130,256,549 (GRCm39)	I91M	probably damaging	Het
Spta1	A	T	1: 174,058,232 (GRCm39)	Q1900L	probably benign	Het
Srgn	C	T	10: 62,333,631 (GRCm39)	E49K	possibly damaging	Het
Ssu2	A	C	6: 112,353,411 (GRCm39)	C238G	probably damaging	Het
Terf2	G	T	8: 107,803,307 (GRCm39)	H425Q	probably benign	Het
Thra	G	A	11: 98,646,990 (GRCm39)	S37N	probably benign	Het
Toporsl	A	G	4: 52,610,845 (GRCm39)	D246G	probably damaging	Het
Ubap2l	G	A	3: 89,928,210 (GRCm39)	T553M	probably damaging	Het
Usp10	A	G	8: 120,667,930 (GRCm39)	Y77C	probably benign	Het
Utrn	T	C	10: 12,625,813 (GRCm39)	T123A	probably damaging	Het
Vmn1r204	T	G	13: 22,740,867 (GRCm39)	F166C	probably benign	Het
Vmn2r14	T	C	5: 109,369,370 (GRCm39)	I68V	probably benign	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Wsb1	A	G	11: 79,131,199 (GRCm39)	M399T	probably benign	Het
Xbp1	C	T	11: 5,471,167 (GRCm39)	T58M	probably damaging	Het
Zbtb46	A	T	2: 181,032,929 (GRCm39)	D577E	probably benign	Het
Zfp366	A	G	13: 99,382,991 (GRCm39)	D718G	probably damaging	Het
Zfp408	A	T	2: 91,475,369 (GRCm39)	V595E	possibly damaging	Het
Zfp493	T	A	13: 67,934,322 (GRCm39)	W60R	probably null	Het
Zfp606	A	T	7: 12,227,932 (GRCm39)	K626N	probably damaging	Het
Zfp820	A	T	17: 22,037,966 (GRCm39)	L454Q	probably benign	Het
Zswim5	A	G	4: 116,830,169 (GRCm39)	I515V	probably benign	Het

Other mutations in Fanca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02348:Fanca	APN	8	124,032,002 (GRCm39)	missense	probably damaging	1.00
IGL02805:Fanca	APN	8	124,016,233 (GRCm39)	missense	probably damaging	0.99
IGL03280:Fanca	APN	8	124,043,198 (GRCm39)	unclassified	probably benign
PIT4402001:Fanca	UTSW	8	124,039,803 (GRCm39)	missense	possibly damaging	0.83
R0114:Fanca	UTSW	8	124,015,230 (GRCm39)	splice site	probably null
R0115:Fanca	UTSW	8	123,995,278 (GRCm39)	missense	probably benign	0.00
R0271:Fanca	UTSW	8	123,999,180 (GRCm39)	unclassified	probably benign
R0330:Fanca	UTSW	8	124,000,911 (GRCm39)	nonsense	probably null
R0345:Fanca	UTSW	8	124,031,552 (GRCm39)	missense	probably damaging	1.00
R0570:Fanca	UTSW	8	124,033,169 (GRCm39)	missense	probably benign	0.01
R0601:Fanca	UTSW	8	124,035,252 (GRCm39)	missense	probably damaging	0.99
R0617:Fanca	UTSW	8	124,014,809 (GRCm39)	missense	probably damaging	0.99
R0639:Fanca	UTSW	8	124,016,098 (GRCm39)	critical splice donor site	probably null
R0943:Fanca	UTSW	8	124,000,925 (GRCm39)	missense	probably damaging	1.00
R1140:Fanca	UTSW	8	124,039,868 (GRCm39)	splice site	probably null
R1364:Fanca	UTSW	8	124,031,020 (GRCm39)	splice site	probably benign
R1366:Fanca	UTSW	8	124,031,020 (GRCm39)	splice site	probably benign
R1367:Fanca	UTSW	8	124,031,020 (GRCm39)	splice site	probably benign
R1368:Fanca	UTSW	8	124,031,020 (GRCm39)	splice site	probably benign
R1969:Fanca	UTSW	8	124,014,803 (GRCm39)	missense	probably benign	0.41
R1992:Fanca	UTSW	8	124,024,551 (GRCm39)	missense	possibly damaging	0.94
R2060:Fanca	UTSW	8	124,001,220 (GRCm39)	missense	probably damaging	1.00
R2174:Fanca	UTSW	8	123,998,009 (GRCm39)	missense	probably benign	0.00
R2261:Fanca	UTSW	8	124,016,098 (GRCm39)	critical splice donor site	probably null
R3957:Fanca	UTSW	8	124,043,102 (GRCm39)	missense	probably benign	0.00
R4062:Fanca	UTSW	8	124,001,911 (GRCm39)	missense	probably benign	0.00
R4153:Fanca	UTSW	8	124,031,617 (GRCm39)	missense	possibly damaging	0.89
R4270:Fanca	UTSW	8	123,995,533 (GRCm39)	missense	probably damaging	1.00
R4424:Fanca	UTSW	8	124,015,532 (GRCm39)	missense	probably benign	0.11
R4581:Fanca	UTSW	8	124,001,077 (GRCm39)	splice site	probably null
R4639:Fanca	UTSW	8	124,044,889 (GRCm39)	missense	probably damaging	0.98
R4664:Fanca	UTSW	8	123,995,711 (GRCm39)	missense	probably damaging	0.99
R4665:Fanca	UTSW	8	123,995,711 (GRCm39)	missense	probably damaging	0.99
R4666:Fanca	UTSW	8	123,995,711 (GRCm39)	missense	probably damaging	0.99
R4686:Fanca	UTSW	8	123,995,673 (GRCm39)	splice site	probably benign
R4775:Fanca	UTSW	8	124,023,045 (GRCm39)	missense	probably damaging	0.99
R4799:Fanca	UTSW	8	124,014,941 (GRCm39)	missense	probably damaging	1.00
R4926:Fanca	UTSW	8	124,030,724 (GRCm39)	missense	probably benign	0.05
R4973:Fanca	UTSW	8	124,035,261 (GRCm39)	missense	probably damaging	0.96
R5039:Fanca	UTSW	8	124,010,785 (GRCm39)	missense	probably benign
R5195:Fanca	UTSW	8	124,030,684 (GRCm39)	intron	probably benign
R5590:Fanca	UTSW	8	124,030,702 (GRCm39)	intron	probably benign
R5848:Fanca	UTSW	8	124,021,792 (GRCm39)	intron	probably benign
R5965:Fanca	UTSW	8	124,043,149 (GRCm39)	missense	possibly damaging	0.46
R6224:Fanca	UTSW	8	124,032,020 (GRCm39)	missense	possibly damaging	0.87
R6385:Fanca	UTSW	8	124,032,606 (GRCm39)	splice site	probably null
R6762:Fanca	UTSW	8	123,998,042 (GRCm39)	missense	probably benign	0.26
R6795:Fanca	UTSW	8	124,045,232 (GRCm39)	missense	probably benign	0.02
R6810:Fanca	UTSW	8	124,013,216 (GRCm39)	missense	probably damaging	0.99
R7153:Fanca	UTSW	8	124,043,164 (GRCm39)	missense	probably damaging	1.00
R7170:Fanca	UTSW	8	123,997,945 (GRCm39)	missense	probably damaging	1.00
R7204:Fanca	UTSW	8	124,013,216 (GRCm39)	missense	probably damaging	0.98
R7366:Fanca	UTSW	8	124,007,952 (GRCm39)	missense	probably benign	0.08
R7599:Fanca	UTSW	8	123,997,999 (GRCm39)	missense	probably benign
R7639:Fanca	UTSW	8	124,018,134 (GRCm39)	critical splice donor site	probably null
R7650:Fanca	UTSW	8	123,995,303 (GRCm39)	splice site	probably null
R8066:Fanca	UTSW	8	124,030,679 (GRCm39)	missense	unknown
R8247:Fanca	UTSW	8	124,010,694 (GRCm39)	unclassified	probably benign
R8312:Fanca	UTSW	8	123,996,549 (GRCm39)	intron	probably benign
R8327:Fanca	UTSW	8	124,039,984 (GRCm39)	nonsense	probably null
R8719:Fanca	UTSW	8	124,014,867 (GRCm39)	missense	probably benign	0.00
R8826:Fanca	UTSW	8	123,995,209 (GRCm39)	missense	probably benign	0.07
R8987:Fanca	UTSW	8	124,024,538 (GRCm39)	missense	probably damaging	1.00
R9017:Fanca	UTSW	8	124,035,307 (GRCm39)	missense	possibly damaging	0.69
R9319:Fanca	UTSW	8	124,018,190 (GRCm39)	missense	probably benign
R9471:Fanca	UTSW	8	124,000,897 (GRCm39)	missense	possibly damaging	0.88
R9542:Fanca	UTSW	8	124,023,078 (GRCm39)	missense	probably damaging	0.98
R9656:Fanca	UTSW	8	124,031,482 (GRCm39)	missense	probably benign	0.02
R9708:Fanca	UTSW	8	124,001,263 (GRCm39)	nonsense	probably null
V7732:Fanca	UTSW	8	124,031,020 (GRCm39)	splice site	probably benign
X0025:Fanca	UTSW	8	124,003,287 (GRCm39)	intron	probably benign
X0062:Fanca	UTSW	8	124,031,591 (GRCm39)	missense	possibly damaging	0.95
Z1177:Fanca	UTSW	8	124,039,368 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTGGGAGACTCAGGAATG -3'
(R):5'- TTGTGGACACGTGCTTCTCC -3'

Sequencing Primer
(F):5'- GACTCAGGAATGGCTTACTTCATGC -3'
(R):5'- ACACGTGCTTCTCCCTGCAG -3'

Posted On

2015-12-29