Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03280:Fanca'

415575

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fanca

Ensembl Gene

ENSMUSG00000032815

Gene Name

Fanconi anemia, complementation group A

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.678) question?

Stock #

IGL03280

Quality Score

Status

Chromosome

Chromosomal Location

123995039-124045315 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 124043198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035495] [ENSMUST00000118395] [ENSMUST00000127664] [ENSMUST00000127904]

AlphaFold

Q9JL70

Predicted Effect

probably benign
Transcript: ENSMUST00000035495

SMART Domains

Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815

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: ENSMUST00000118395

SMART Domains

Protein: ENSMUSP00000113125
Gene: ENSMUSG00000032815

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	78	100	N/A	INTRINSIC

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 benign
Transcript: ENSMUST00000127904

SMART Domains

Protein: ENSMUSP00000116614
Gene: ENSMUSG00000032815

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: ENSMUST00000150318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155488

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb4	T	C	6: 5,423,416 (GRCm39)	S188P	probably benign	Het
Bbs5	A	G	2: 69,497,315 (GRCm39)		probably benign	Het
Cdh13	G	T	8: 120,040,873 (GRCm39)	G693W	probably damaging	Het
Cdh20	T	A	1: 110,036,498 (GRCm39)	Y559*	probably null	Het
Cemip	G	A	7: 83,636,538 (GRCm39)		probably benign	Het
Crem	A	G	18: 3,273,415 (GRCm39)		probably benign	Het
Crygf	A	G	1: 65,967,329 (GRCm39)	Y151C	probably damaging	Het
Dcp1b	T	C	6: 119,157,019 (GRCm39)		probably benign	Het
Fkbp15	A	C	4: 62,221,504 (GRCm39)		probably benign	Het
Gabrp	C	T	11: 33,502,616 (GRCm39)	R416Q	probably benign	Het
Iho1	T	C	9: 108,282,099 (GRCm39)	S530G	possibly damaging	Het
Impg2	T	A	16: 56,088,631 (GRCm39)	Y1052*	probably null	Het
Isg15	T	C	4: 156,284,319 (GRCm39)	M70V	probably benign	Het
Krit1	T	A	5: 3,861,248 (GRCm39)		probably benign	Het
Lrrn3	T	C	12: 41,504,146 (GRCm39)	D57G	probably damaging	Het
Macrod1	A	G	19: 7,174,937 (GRCm39)	E309G	possibly damaging	Het
Notch1	A	T	2: 26,367,886 (GRCm39)		probably benign	Het
Nptx1	T	C	11: 119,435,555 (GRCm39)	T254A	probably damaging	Het
Or12e9	A	T	2: 87,202,467 (GRCm39)	D197V	probably damaging	Het
Pigm	A	G	1: 172,204,420 (GRCm39)	Y52C	probably damaging	Het
Pramel27	A	T	4: 143,578,489 (GRCm39)	T250S	possibly damaging	Het
Rif1	A	G	2: 52,002,611 (GRCm39)	T2022A	probably benign	Het
Rint1	T	A	5: 24,022,076 (GRCm39)	L646Q	probably damaging	Het
Rpe65	A	T	3: 159,309,978 (GRCm39)	I84F	probably damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Scnn1a	T	C	6: 125,319,744 (GRCm39)		probably benign	Het
Selenop	T	C	15: 3,310,104 (GRCm39)		probably benign	Het
Siglecf	T	G	7: 43,005,354 (GRCm39)	V438G	probably benign	Het
St8sia4	T	A	1: 95,581,499 (GRCm39)		probably benign	Het
Tfeb	T	C	17: 48,096,862 (GRCm39)	F43S	probably benign	Het
Tgm6	A	G	2: 129,980,851 (GRCm39)	Y216C	probably damaging	Het
Try10	T	A	6: 41,331,154 (GRCm39)	V10E	probably benign	Het
Ttn	A	T	2: 76,728,811 (GRCm39)	C1234*	probably null	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Usp24	T	G	4: 106,237,627 (GRCm39)	I1095R	probably damaging	Het
Usp34	C	T	11: 23,304,897 (GRCm39)	H377Y	probably damaging	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
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
R4782:Fanca	UTSW	8	124,014,941 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02