Mutagenetix > Incidental Mutation

Incidental Mutation 'R0601:Fanca'

55411

Institutional Source

Beutler Lab

Gene Symbol

Fanca

Ensembl Gene

ENSMUSG00000032815

Gene Name

Fanconi anemia, complementation group A

Synonyms

MMRRC Submission

038790-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

R0601 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

123995039-124045315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124035252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 231 (M231K)

Ref Sequence

ENSEMBL: ENSMUSP00000113125 (fasta)

Gene Model

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

AlphaFold

Q9JL70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035495
AA Change: M231K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815
AA Change: M231K

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 damaging
Transcript: ENSMUST00000118395
AA Change: M231K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113125
Gene: ENSMUSG00000032815
AA Change: M231K

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

possibly damaging
Transcript: ENSMUST00000127904
AA Change: M133K

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116614
Gene: ENSMUSG00000032815
AA Change: M133K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212953

Meta Mutation Damage Score

0.2853

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.2%

Validation Efficiency

98% (119/122)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	G	14: 35,532,146 (GRCm39)	D143A	probably damaging	Het
Abca9	C	T	11: 110,007,884 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,223,309 (GRCm39)		probably benign	Het
Ablim3	T	A	18: 61,982,441 (GRCm39)	D168V	probably benign	Het
Acsl3	C	T	1: 78,673,896 (GRCm39)	S352F	probably damaging	Het
Adgrl4	A	T	3: 151,204,066 (GRCm39)		probably benign	Het
Arhgap29	A	G	3: 121,784,759 (GRCm39)	K229E	probably damaging	Het
Atad3a	A	T	4: 155,831,864 (GRCm39)	V470D	probably damaging	Het
Atp8b1	A	G	18: 64,704,724 (GRCm39)		probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Bpifa5	A	G	2: 154,006,175 (GRCm39)	N121S	possibly damaging	Het
Bpifb4	G	A	2: 153,789,203 (GRCm39)		probably benign	Het
Bptf	T	A	11: 106,952,518 (GRCm39)	T2112S	probably benign	Het
Btnl4	T	C	17: 34,688,285 (GRCm39)	K498E	probably benign	Het
Calhm2	A	G	19: 47,129,469 (GRCm39)		probably null	Het
Capn3	A	T	2: 120,333,077 (GRCm39)		probably null	Het
Caps2	T	C	10: 112,031,695 (GRCm39)	F265L	possibly damaging	Het
Casp3	G	T	8: 47,089,262 (GRCm39)	C170F	probably benign	Het
Ccdc39	T	C	3: 33,873,988 (GRCm39)	R615G	probably damaging	Het
Cd177	A	G	7: 24,451,738 (GRCm39)	I426T	probably benign	Het
Cfap53	G	A	18: 74,433,221 (GRCm39)	R102H	possibly damaging	Het
Cfhr3	G	A	1: 139,521,623 (GRCm39)		noncoding transcript	Het
Col7a1	T	C	9: 108,809,652 (GRCm39)		probably benign	Het
Cplx3	T	C	9: 57,513,357 (GRCm39)	E24G	possibly damaging	Het
Dhx30	A	G	9: 109,915,782 (GRCm39)		probably null	Het
Dnah8	T	A	17: 30,927,332 (GRCm39)	N1329K	probably benign	Het
Dnajc11	C	G	4: 152,054,393 (GRCm39)	R200G	probably damaging	Het
Dok3	A	T	13: 55,672,076 (GRCm39)	F201I	probably benign	Het
Dpf2	A	T	19: 5,952,240 (GRCm39)	H303Q	probably damaging	Het
Dtnb	A	G	12: 3,785,039 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,219,555 (GRCm39)	D129G	possibly damaging	Het
Elk3	T	C	10: 93,101,343 (GRCm39)	E136G	probably damaging	Het
Ephb1	T	C	9: 102,072,329 (GRCm39)	D150G	probably damaging	Het
Erbb3	A	G	10: 128,412,881 (GRCm39)	S570P	probably benign	Het
F2	A	T	2: 91,463,656 (GRCm39)		probably null	Het
Fbxo34	T	C	14: 47,767,714 (GRCm39)	V358A	probably benign	Het
Foxp1	C	T	6: 98,907,083 (GRCm39)	E666K	probably damaging	Het
Fto	A	G	8: 92,128,430 (GRCm39)		probably null	Het
Gbp2	C	T	3: 142,336,519 (GRCm39)	R290C	possibly damaging	Het
Gm57859	T	A	11: 113,578,712 (GRCm39)	S36T	probably benign	Het
Grik2	T	G	10: 49,298,693 (GRCm39)	S343R	probably damaging	Het
Heatr5b	A	T	17: 79,075,974 (GRCm39)	M1448K	probably benign	Het
Hmgn3	A	T	9: 83,028,482 (GRCm39)		probably null	Het
Htt	T	C	5: 35,003,347 (GRCm39)	V1274A	probably benign	Het
Kcnh8	A	G	17: 53,201,033 (GRCm39)	D489G	probably damaging	Het
Kcnip3	A	T	2: 127,300,317 (GRCm39)		probably benign	Het
Kdm5a	A	G	6: 120,379,632 (GRCm39)	T647A	possibly damaging	Het
Krt72	T	C	15: 101,694,491 (GRCm39)	R135G	probably damaging	Het
Larp7	T	A	3: 127,337,858 (GRCm39)	K400N	probably damaging	Het
Lifr	T	C	15: 7,198,753 (GRCm39)		probably null	Het
Lima1	G	A	15: 99,678,353 (GRCm39)	P696L	probably damaging	Het
Lrrc8e	T	G	8: 4,285,239 (GRCm39)		probably null	Het
Map1a	A	G	2: 121,129,083 (GRCm39)	R116G	probably damaging	Het
Map3k13	A	G	16: 21,723,999 (GRCm39)	E327G	possibly damaging	Het
Med13	A	G	11: 86,236,788 (GRCm39)	V123A	possibly damaging	Het
Megf8	A	C	7: 25,027,965 (GRCm39)	H205P	probably benign	Het
Met	G	A	6: 17,555,631 (GRCm39)		probably null	Het
Mfsd14b	A	C	13: 65,234,964 (GRCm39)	V71G	possibly damaging	Het
Mpl	T	A	4: 118,300,733 (GRCm39)	T599S	probably benign	Het
Myh15	A	T	16: 48,881,944 (GRCm39)	D62V	probably damaging	Het
Myo5a	A	G	9: 75,081,297 (GRCm39)	T961A	probably benign	Het
Myrfl	A	G	10: 116,612,665 (GRCm39)	Y895H	probably damaging	Het
Nap1l1	T	C	10: 111,326,224 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 26,952,803 (GRCm39)	Y111N	probably benign	Het
Nlrc3	A	G	16: 3,766,113 (GRCm39)		probably benign	Het
Nsun2	G	T	13: 69,781,361 (GRCm39)	V657L	probably benign	Het
Or10g1b	C	A	14: 52,627,283 (GRCm39)	G316*	probably null	Het
Or4a74	T	A	2: 89,439,564 (GRCm39)	N294I	probably benign	Het
Or4b13	T	C	2: 90,083,278 (GRCm39)	D18G	probably benign	Het
Or52d1	A	T	7: 103,756,349 (GRCm39)	I288F	possibly damaging	Het
Or52e19	T	C	7: 102,959,371 (GRCm39)	S148P	probably damaging	Het
Or5k3	G	A	16: 58,970,117 (GRCm39)	M301I	probably benign	Het
Or5m13b	A	T	2: 85,753,722 (GRCm39)	I37F	probably benign	Het
Or6c68	T	A	10: 129,157,885 (GRCm39)	M131K	possibly damaging	Het
Osbpl3	A	T	6: 50,276,383 (GRCm39)	V795D	probably benign	Het
Osbpl5	T	C	7: 143,263,286 (GRCm39)	D155G	probably damaging	Het
Parm1	G	A	5: 91,742,123 (GRCm39)	V164I	probably benign	Het
Pgd	A	T	4: 149,241,267 (GRCm39)		probably benign	Het
Pkp1	G	A	1: 135,805,920 (GRCm39)	R593W	probably damaging	Het
Polr2l	A	T	7: 141,053,255 (GRCm39)	V53E	probably damaging	Het
Ppp4c	G	T	7: 126,386,460 (GRCm39)	T29K	probably benign	Het
Ppp4r4	T	A	12: 103,566,779 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 76,018,711 (GRCm39)	S688P	probably benign	Het
Rab3b	A	T	4: 108,747,586 (GRCm39)	I28F	probably damaging	Het
Rnase4	T	C	14: 51,342,552 (GRCm39)	L92P	probably benign	Het
Rnpc3	T	C	3: 113,413,755 (GRCm39)	E229G	probably benign	Het
Rtraf	A	T	14: 19,866,274 (GRCm39)	D147E	possibly damaging	Het
Rttn	G	A	18: 89,061,090 (GRCm39)	G1086D	probably benign	Het
Ryr2	A	G	13: 11,720,519 (GRCm39)		probably null	Het
Sft2d2	T	C	1: 165,011,430 (GRCm39)	I126V	probably benign	Het
Skap1	G	T	11: 96,614,236 (GRCm39)		probably benign	Het
Slc14a2	A	T	18: 78,200,394 (GRCm39)	L753*	probably null	Het
Slc25a5	G	A	X: 36,059,408 (GRCm39)	A9T	probably benign	Het
Slc30a5	T	C	13: 100,951,278 (GRCm39)		probably benign	Het
Slc5a4b	A	C	10: 75,899,870 (GRCm39)	I456S	possibly damaging	Het
Slc9a4	A	T	1: 40,642,230 (GRCm39)	S400C	probably damaging	Het
Slx1b	T	A	7: 126,291,812 (GRCm39)	H84L	probably damaging	Het
Sptbn1	T	C	11: 30,100,008 (GRCm39)	Y190C	probably damaging	Het
Stk32b	T	C	5: 37,688,910 (GRCm39)	Q138R	probably damaging	Het
Syt6	C	A	3: 103,528,206 (GRCm39)	D308E	probably damaging	Het
Sytl2	G	A	7: 90,044,374 (GRCm39)	D572N	probably damaging	Het
Taok2	A	T	7: 126,478,605 (GRCm39)	L109Q	probably damaging	Het
Tbl1xr1	T	C	3: 22,233,483 (GRCm39)		probably benign	Het
Tlk1	A	G	2: 70,544,502 (GRCm39)	I711T	probably benign	Het
Trf	A	G	9: 103,100,132 (GRCm39)		probably null	Het
Trpc2	A	G	7: 101,733,572 (GRCm39)	T548A	possibly damaging	Het
Ttbk2	A	T	2: 120,655,777 (GRCm39)	I29N	possibly damaging	Het
Tti1	A	T	2: 157,835,292 (GRCm39)	C989S	probably damaging	Het
Txndc8	A	G	4: 58,000,256 (GRCm39)	Y108H	probably benign	Het
Ugt2b1	A	T	5: 87,065,539 (GRCm39)	V500D	possibly damaging	Het
Vmn1r34	A	G	6: 66,614,648 (GRCm39)	I30T	possibly damaging	Het
Vmn2r115	A	G	17: 23,579,074 (GRCm39)	K849R	probably null	Het
Vmn2r76	T	A	7: 85,875,323 (GRCm39)		probably null	Het
Vps13c	T	A	9: 67,834,754 (GRCm39)	S1694R	probably benign	Het
Wdfy3	G	T	5: 101,984,038 (GRCm39)	P3509T	probably benign	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Wnt8b	T	A	19: 44,482,106 (GRCm39)	W40R	probably benign	Het
Xrra1	A	G	7: 99,560,175 (GRCm39)	I384V	possibly damaging	Het
Zfp11	A	T	5: 129,734,971 (GRCm39)	H163Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTAAACTGCCCACATCAGCTTC -3'
(R):5'- CAGTTGGTCCCTGAGACAGGATTTG -3'

Sequencing Primer
(F):5'- ttcaaatctcagcaaccacac -3'
(R):5'- AGCCAGTGCTTCCTAGTTAAG -3'

Posted On

2013-07-11