Mutagenetix > Incidental Mutation

Incidental Mutation 'R5590:Fanca'

437449

Institutional Source

Beutler Lab

Gene Symbol

Fanca

Ensembl Gene

ENSMUSG00000032815

Gene Name

Fanconi anemia, complementation group A

Synonyms

MMRRC Submission

043143-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

R5590 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123995039-124045315 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 124030702 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

unknown
Transcript: ENSMUST00000118395
AA Change: D460G

SMART Domains

Protein: ENSMUSP00000113125
Gene: ENSMUSG00000032815
AA Change: D460G

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: ENSMUST00000155488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212953

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (108/108)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	T	G	4: 124,504,280 (GRCm39)	M91L	unknown	Het
A2m	C	T	6: 121,653,891 (GRCm39)	T1408M	probably damaging	Het
Abca16	C	T	7: 120,143,995 (GRCm39)	T1671M	probably damaging	Het
Adamts8	A	T	9: 30,862,632 (GRCm39)	N279I	probably damaging	Het
Adgre1	T	A	17: 57,752,034 (GRCm39)	I594N	probably damaging	Het
Aldh4a1	T	A	4: 139,369,415 (GRCm39)	V322E	probably damaging	Het
Atp12a	A	T	14: 56,610,837 (GRCm39)	Y327F	probably benign	Het
C4b	T	C	17: 34,959,309 (GRCm39)	T422A	probably damaging	Het
Cacna1c	A	T	6: 118,664,143 (GRCm39)	S668T	probably damaging	Het
Cchcr1	A	T	17: 35,837,577 (GRCm39)	E426D	probably damaging	Het
Ccr3	G	A	9: 123,828,830 (GRCm39)	G55D	probably damaging	Het
Cdipt	T	A	7: 126,578,704 (GRCm39)		probably null	Het
Cep19	A	G	16: 31,922,716 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,626 (GRCm39)	M56L	probably benign	Het
Cyp3a11	C	A	5: 145,802,787 (GRCm39)	M235I	probably benign	Het
Dnajc21	A	T	15: 10,462,363 (GRCm39)	D87E	possibly damaging	Het
Ell	A	C	8: 70,992,357 (GRCm39)	M1L	possibly damaging	Het
Esyt3	T	C	9: 99,240,466 (GRCm39)		probably benign	Het
Ets1	T	C	9: 32,640,094 (GRCm39)		probably benign	Het
Fam222b	T	A	11: 78,045,858 (GRCm39)	M473K	probably benign	Het
Fbrsl1	G	T	5: 110,529,484 (GRCm39)	A67D	probably damaging	Het
Fchsd1	G	A	18: 38,094,380 (GRCm39)	P622L	probably damaging	Het
Gal3st2c	T	G	1: 93,936,023 (GRCm39)		probably null	Het
Gins2	T	G	8: 121,308,486 (GRCm39)	H166P	possibly damaging	Het
Gm10118	A	T	10: 63,762,845 (GRCm39)		probably benign	Het
Gm9979	A	T	13: 40,859,289 (GRCm39)		noncoding transcript	Het
Hspbap1	A	G	16: 35,622,033 (GRCm39)	Y126C	probably damaging	Het
Hspd1	A	T	1: 55,123,928 (GRCm39)	I64N	probably damaging	Het
Igkv3-4	A	T	6: 70,649,267 (GRCm39)	S89C	probably damaging	Het
Il10ra	T	A	9: 45,176,924 (GRCm39)	K134*	probably null	Het
Il12rb1	G	A	8: 71,266,411 (GRCm39)	C252Y	possibly damaging	Het
Il24	A	T	1: 130,810,253 (GRCm39)	V201E	possibly damaging	Het
Inpp1	A	G	1: 52,833,820 (GRCm39)	I92T	probably damaging	Het
Kcnh5	T	C	12: 75,023,463 (GRCm39)	D535G	probably benign	Het
Kcnq4	T	A	4: 120,573,082 (GRCm39)	I240F	probably damaging	Het
Kctd17	G	A	15: 78,321,502 (GRCm39)		probably benign	Het
Leo1	T	A	9: 75,364,423 (GRCm39)	I521N	possibly damaging	Het
Mdga1	A	G	17: 30,058,841 (GRCm39)	L722P	probably damaging	Het
Met	G	T	6: 17,548,781 (GRCm39)	V942L	probably benign	Het
Mfn1	A	T	3: 32,617,996 (GRCm39)	T110S	probably benign	Het
Mrps15	T	C	4: 125,942,488 (GRCm39)	I79T	probably benign	Het
Mycbp2	A	C	14: 103,360,791 (GRCm39)	M4497R	probably damaging	Het
Mylk	T	A	16: 34,699,722 (GRCm39)	S362T	probably benign	Het
Mypn	A	G	10: 62,955,827 (GRCm39)	F1209L	probably benign	Het
Nab2	T	C	10: 127,500,526 (GRCm39)	S189G	probably damaging	Het
Naxe	A	C	3: 87,963,840 (GRCm39)		probably null	Het
Ncf1	A	G	5: 134,252,355 (GRCm39)	V232A	probably damaging	Het
Nell1	A	G	7: 49,929,359 (GRCm39)	Y422C	probably damaging	Het
Nmnat2	G	T	1: 152,969,807 (GRCm39)	G176V	probably damaging	Het
Npr1	A	G	3: 90,362,149 (GRCm39)	S999P	probably damaging	Het
Nuak1	T	C	10: 84,211,119 (GRCm39)	D323G	probably benign	Het
Or4d10b	A	G	19: 12,036,642 (GRCm39)	V158A	probably benign	Het
Or5h23	A	G	16: 58,906,360 (GRCm39)	F162S	probably benign	Het
Or8b3b	T	A	9: 38,584,261 (GRCm39)	T160S	probably damaging	Het
Osbpl8	T	C	10: 111,108,029 (GRCm39)	S342P	probably damaging	Het
Pag1	A	T	3: 9,764,482 (GRCm39)	Y224N	probably damaging	Het
Pald1	T	A	10: 61,179,489 (GRCm39)	H460L	probably damaging	Het
Per2	G	A	1: 91,355,578 (GRCm39)	Q727*	probably null	Het
Pex19	T	C	1: 171,960,779 (GRCm39)	V134A	probably benign	Het
Phlpp1	A	T	1: 106,320,657 (GRCm39)	I1551F	possibly damaging	Het
Ppef2	A	T	5: 92,386,998 (GRCm39)	V313D	probably damaging	Het
Prorp	T	C	12: 55,351,257 (GRCm39)	S189P	possibly damaging	Het
Pzp	A	C	6: 128,500,759 (GRCm39)	F153C	probably damaging	Het
Rasl11a	A	G	5: 146,782,052 (GRCm39)	H9R	probably benign	Het
Rfx3	A	T	19: 27,779,780 (GRCm39)		probably null	Het
Rmnd5b	A	T	11: 51,518,789 (GRCm39)	I68N	probably damaging	Het
Senp5	T	A	16: 31,808,331 (GRCm39)	S281C	probably damaging	Het
Sh3rf1	G	A	8: 61,814,766 (GRCm39)	E442K	probably benign	Het
Slc12a3	G	A	8: 95,072,416 (GRCm39)	V645M	probably damaging	Het
Slc22a16	T	C	10: 40,457,337 (GRCm39)	F193L	possibly damaging	Het
Slc35f1	A	T	10: 52,984,274 (GRCm39)	T345S	possibly damaging	Het
Slc9a1	G	A	4: 133,148,874 (GRCm39)	R704H	probably damaging	Het
Spta1	A	T	1: 174,003,336 (GRCm39)	Y89F	possibly damaging	Het
Sspo	A	G	6: 48,451,425 (GRCm39)	E2741G	probably damaging	Het
Strn4	G	A	7: 16,567,799 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,132 (GRCm39)	T1859A	probably damaging	Het
Tbc1d14	A	T	5: 36,682,389 (GRCm39)	Y3N	probably damaging	Het
Tdrd9	C	A	12: 112,018,414 (GRCm39)	R1278S	probably benign	Het
Tenm4	C	A	7: 96,446,608 (GRCm39)	A826E	possibly damaging	Het
Tenm4	G	T	7: 96,446,607 (GRCm39)	A826S	possibly damaging	Het
Tet2	C	T	3: 133,182,241 (GRCm39)		probably null	Het
Tfec	A	G	6: 16,834,199 (GRCm39)	L236P	probably benign	Het
Tjap1	A	G	17: 46,569,797 (GRCm39)	S388P	probably damaging	Het
Tle1	T	C	4: 72,043,208 (GRCm39)	T554A	possibly damaging	Het
Tmem17	G	A	11: 22,467,450 (GRCm39)	V83I	probably benign	Het
Tnrc6b	C	T	15: 80,760,703 (GRCm39)	H137Y	probably damaging	Het
Tomm5	T	C	4: 45,106,679 (GRCm39)		probably benign	Het
Top3b	T	A	16: 16,709,441 (GRCm39)		probably benign	Het
Tph1	T	C	7: 46,303,216 (GRCm39)	H254R	probably damaging	Het
Tpte	T	C	8: 22,841,468 (GRCm39)	Y487H	probably damaging	Het
Trappc13	T	A	13: 104,284,749 (GRCm39)	D241V	probably damaging	Het
Trrap	A	G	5: 144,719,075 (GRCm39)	I193V	probably benign	Het
Tspear	A	T	10: 77,706,199 (GRCm39)	H323L	probably benign	Het
Ttc39a	A	T	4: 109,290,184 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubg1	A	G	11: 101,014,858 (GRCm39)	D200G	probably damaging	Het
Ugdh	C	A	5: 65,580,217 (GRCm39)		probably benign	Het
Uso1	A	G	5: 92,328,467 (GRCm39)	N355D	probably benign	Het
Vamp4	T	C	1: 162,420,248 (GRCm39)		probably null	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vps52	A	G	17: 34,180,195 (GRCm39)	T300A	probably benign	Het
Wt1	A	T	2: 104,957,629 (GRCm39)	H163L	probably damaging	Het
Xirp2	T	C	2: 67,344,379 (GRCm39)	S2207P	probably benign	Het
Xpo6	A	T	7: 125,706,250 (GRCm39)	I30N	probably damaging	Het
Zfp386	T	A	12: 116,023,347 (GRCm39)	I320K	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
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
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'- CAGCTGACCAAGGATTTCCC -3'
(R):5'- CATGCATGTTTCCAGAAGCTG -3'

Sequencing Primer
(F):5'- CTGCAGACTTCACCTTAGGAG -3'
(R):5'- AGAAGCTGTCTACTATGCTCTG -3'

Posted On

2016-10-26