Mutagenetix > Incidental Mutation

Incidental Mutation 'R4388:Fancd2'

326301

Institutional Source

Beutler Lab

Gene Symbol

Fancd2

Ensembl Gene

ENSMUSG00000034023

Gene Name

Fanconi anemia, complementation group D2

Synonyms

2410150O07Rik

MMRRC Submission

041125-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113508643-113573978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113533329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 549 (I549V)

Ref Sequence

ENSEMBL: ENSMUSP00000144928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036340] [ENSMUST00000204827]

AlphaFold

Q80V62

Predicted Effect

probably damaging
Transcript: ENSMUST00000036340
AA Change: I549V

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

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: I549V

Domain	Start	End	E-Value	Type
Pfam:FancD2	1	1415	N/A	PFAM
low complexity region	1430	1450	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000123738
AA Change: I150V

SMART Domains

Protein: ENSMUSP00000122091
Gene: ENSMUSG00000034023
AA Change: I150V

Domain	Start	End	E-Value	Type
Pfam:FancD2	1	246	5.7e-116	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142453

Predicted Effect

probably damaging
Transcript: ENSMUST00000204827
AA Change: I549V

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

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: I549V

Domain	Start	End	E-Value	Type
Pfam:FancD2	1	1402	N/A	PFAM
low complexity region	1417	1437	N/A	INTRINSIC

Meta Mutation Damage Score

0.0789

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

86% (31/36)

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 D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,464,693 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,729,828 (GRCm39)	T218A	probably damaging	Het
Aldh1l2	T	C	10: 83,349,486 (GRCm39)	D254G	probably damaging	Het
Arpc4	A	G	6: 113,362,458 (GRCm39)	D36G	probably damaging	Het
Cd209b	A	G	8: 3,975,960 (GRCm39)	L67P	probably damaging	Het
Cldn20	G	A	17: 3,583,485 (GRCm39)	M219I	probably benign	Het
Dmxl2	G	A	9: 54,303,551 (GRCm39)	P2308S	probably damaging	Het
Galnt2	T	C	8: 125,022,192 (GRCm39)		probably null	Het
Galnt9	A	G	5: 110,736,257 (GRCm39)	D191G	probably damaging	Het
Hgf	T	A	5: 16,819,941 (GRCm39)	H557Q	probably benign	Het
Ifna12	T	C	4: 88,521,346 (GRCm39)	D67G	probably benign	Het
Igf1r	A	G	7: 67,819,757 (GRCm39)	I356V	probably benign	Het
Itih1	A	G	14: 30,663,512 (GRCm39)	V164A	possibly damaging	Het
Kcnc1	C	A	7: 46,047,126 (GRCm39)	R9S	possibly damaging	Het
Kmt2b	A	C	7: 30,288,015 (GRCm39)		probably benign	Het
Kmt2d	C	T	15: 98,751,507 (GRCm39)		probably benign	Het
Kng1	T	A	16: 22,898,068 (GRCm39)	H489Q	possibly damaging	Het
Larp7-ps	A	T	4: 92,079,351 (GRCm39)	S157T	probably benign	Het
Map4k5	C	A	12: 69,892,583 (GRCm39)	M115I	probably damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Naca	T	C	10: 127,880,661 (GRCm39)	S1898P	probably damaging	Het
Nlrp4e	A	G	7: 23,000,902 (GRCm39)	K66E	probably benign	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Pex26	A	G	6: 121,161,351 (GRCm39)	D43G	probably damaging	Het
Prr14l	A	G	5: 32,986,598 (GRCm39)	S966P	probably damaging	Het
Recql4	A	G	15: 76,590,158 (GRCm39)	S659P	probably benign	Het
Serpina3n	C	A	12: 104,377,616 (GRCm39)	Q290K	probably benign	Het
Sft2d1	A	G	17: 8,539,469 (GRCm39)	K91E	possibly damaging	Het
Slc25a16	T	C	10: 62,764,105 (GRCm39)	V54A	probably benign	Het
Svep1	A	G	4: 58,069,249 (GRCm39)	Y2846H	possibly damaging	Het
Ttll2	T	A	17: 7,618,599 (GRCm39)	R443*	probably null	Het
Uty	A	G	Y: 1,151,956 (GRCm39)	S795P	possibly damaging	Het
Xrcc5	T	A	1: 72,369,189 (GRCm39)	S348T	possibly damaging	Het

Other mutations in Fancd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Fancd2	APN	6	113,541,357 (GRCm39)	critical splice donor site	probably null
IGL00475:Fancd2	APN	6	113,545,571 (GRCm39)	missense	probably benign	0.01
IGL01319:Fancd2	APN	6	113,561,860 (GRCm39)	missense	probably damaging	0.98
IGL01339:Fancd2	APN	6	113,530,713 (GRCm39)	missense	probably benign	0.00
IGL01373:Fancd2	APN	6	113,530,713 (GRCm39)	missense	probably benign	0.00
IGL01393:Fancd2	APN	6	113,554,321 (GRCm39)	splice site	probably benign
IGL01630:Fancd2	APN	6	113,540,085 (GRCm39)	missense	probably damaging	1.00
IGL01769:Fancd2	APN	6	113,522,072 (GRCm39)	missense	possibly damaging	0.90
IGL01882:Fancd2	APN	6	113,523,601 (GRCm39)	missense	probably benign	0.05
IGL02029:Fancd2	APN	6	113,547,936 (GRCm39)	missense	probably benign	0.44
IGL02224:Fancd2	APN	6	113,545,281 (GRCm39)	critical splice donor site	probably null
IGL02271:Fancd2	APN	6	113,512,720 (GRCm39)	splice site	probably benign
IGL02352:Fancd2	APN	6	113,540,073 (GRCm39)	missense	probably damaging	1.00
IGL02359:Fancd2	APN	6	113,540,073 (GRCm39)	missense	probably damaging	1.00
IGL02427:Fancd2	APN	6	113,526,313 (GRCm39)	splice site	probably null
IGL02512:Fancd2	APN	6	113,547,904 (GRCm39)	missense	probably damaging	1.00
IGL02530:Fancd2	APN	6	113,539,422 (GRCm39)	missense	probably damaging	1.00
IGL02801:Fancd2	APN	6	113,570,278 (GRCm39)	missense	probably benign	0.00
IGL03090:Fancd2	APN	6	113,514,558 (GRCm39)	splice site	probably null
IGL03247:Fancd2	APN	6	113,545,169 (GRCm39)	missense	probably benign	0.03
R0278:Fancd2	UTSW	6	113,525,409 (GRCm39)	critical splice donor site	probably null
R0401:Fancd2	UTSW	6	113,525,304 (GRCm39)	missense	possibly damaging	0.46
R0420:Fancd2	UTSW	6	113,513,940 (GRCm39)	missense	probably damaging	0.98
R0496:Fancd2	UTSW	6	113,532,091 (GRCm39)	splice site	probably benign
R0762:Fancd2	UTSW	6	113,551,619 (GRCm39)	missense	probably benign	0.20
R0827:Fancd2	UTSW	6	113,563,210 (GRCm39)	critical splice donor site	probably null
R1225:Fancd2	UTSW	6	113,512,822 (GRCm39)	missense	probably damaging	0.99
R1576:Fancd2	UTSW	6	113,555,366 (GRCm39)	missense	probably damaging	0.98
R2010:Fancd2	UTSW	6	113,570,252 (GRCm39)	missense	probably damaging	0.96
R2079:Fancd2	UTSW	6	113,532,148 (GRCm39)	missense	probably damaging	1.00
R2118:Fancd2	UTSW	6	113,537,035 (GRCm39)	splice site	probably benign
R2141:Fancd2	UTSW	6	113,526,282 (GRCm39)	missense	probably benign	0.00
R2168:Fancd2	UTSW	6	113,568,120 (GRCm39)	missense	possibly damaging	0.92
R2180:Fancd2	UTSW	6	113,551,598 (GRCm39)	missense	probably benign	0.33
R3016:Fancd2	UTSW	6	113,513,687 (GRCm39)	missense	probably benign	0.00
R3153:Fancd2	UTSW	6	113,570,230 (GRCm39)	missense	possibly damaging	0.55
R3154:Fancd2	UTSW	6	113,570,230 (GRCm39)	missense	possibly damaging	0.55
R3783:Fancd2	UTSW	6	113,542,165 (GRCm39)	missense	probably damaging	1.00
R3786:Fancd2	UTSW	6	113,542,165 (GRCm39)	missense	probably damaging	1.00
R3787:Fancd2	UTSW	6	113,542,165 (GRCm39)	missense	probably damaging	1.00
R4379:Fancd2	UTSW	6	113,538,677 (GRCm39)	missense	probably benign	0.00
R4544:Fancd2	UTSW	6	113,549,603 (GRCm39)	critical splice acceptor site	probably null
R4598:Fancd2	UTSW	6	113,562,438 (GRCm39)	missense	probably benign	0.06
R4832:Fancd2	UTSW	6	113,530,683 (GRCm39)	missense	probably benign	0.16
R4841:Fancd2	UTSW	6	113,539,391 (GRCm39)	missense	probably damaging	1.00
R4922:Fancd2	UTSW	6	113,562,434 (GRCm39)	missense	probably benign	0.03
R5375:Fancd2	UTSW	6	113,545,673 (GRCm39)	missense	possibly damaging	0.93
R5579:Fancd2	UTSW	6	113,537,012 (GRCm39)	critical splice acceptor site	probably null
R5782:Fancd2	UTSW	6	113,525,833 (GRCm39)	missense	probably benign	0.00
R5871:Fancd2	UTSW	6	113,533,243 (GRCm39)	missense	probably benign	0.30
R5901:Fancd2	UTSW	6	113,526,326 (GRCm39)	missense	probably damaging	1.00
R5909:Fancd2	UTSW	6	113,538,672 (GRCm39)	missense	probably benign
R6026:Fancd2	UTSW	6	113,528,731 (GRCm39)	missense	possibly damaging	0.46
R6166:Fancd2	UTSW	6	113,532,212 (GRCm39)	missense	possibly damaging	0.67
R6393:Fancd2	UTSW	6	113,555,374 (GRCm39)	missense	probably benign	0.01
R6666:Fancd2	UTSW	6	113,562,470 (GRCm39)	missense	probably damaging	0.96
R6669:Fancd2	UTSW	6	113,570,288 (GRCm39)	missense	probably benign	0.00
R6676:Fancd2	UTSW	6	113,514,626 (GRCm39)	nonsense	probably null
R6762:Fancd2	UTSW	6	113,562,977 (GRCm39)	splice site	probably null
R6911:Fancd2	UTSW	6	113,525,346 (GRCm39)	missense	probably damaging	0.98
R6992:Fancd2	UTSW	6	113,547,979 (GRCm39)	critical splice donor site	probably null
R7091:Fancd2	UTSW	6	113,522,062 (GRCm39)	missense	probably damaging	1.00
R7252:Fancd2	UTSW	6	113,533,246 (GRCm39)	missense	probably damaging	0.98
R7343:Fancd2	UTSW	6	113,513,900 (GRCm39)	missense	probably benign	0.01
R7344:Fancd2	UTSW	6	113,545,670 (GRCm39)	missense	probably benign	0.09
R7354:Fancd2	UTSW	6	113,572,907 (GRCm39)	missense	unknown
R7489:Fancd2	UTSW	6	113,541,265 (GRCm39)	missense	probably benign
R7501:Fancd2	UTSW	6	113,525,364 (GRCm39)	missense	possibly damaging	0.95
R7504:Fancd2	UTSW	6	113,521,999 (GRCm39)	missense	probably damaging	1.00
R7992:Fancd2	UTSW	6	113,542,165 (GRCm39)	missense	probably damaging	1.00
R8027:Fancd2	UTSW	6	113,523,583 (GRCm39)	missense	probably damaging	1.00
R8487:Fancd2	UTSW	6	113,545,187 (GRCm39)	missense	probably damaging	1.00
R8509:Fancd2	UTSW	6	113,549,531 (GRCm39)	missense	probably benign	0.00
R8757:Fancd2	UTSW	6	113,537,054 (GRCm39)	missense	possibly damaging	0.91
R8960:Fancd2	UTSW	6	113,540,129 (GRCm39)	critical splice donor site	probably null
R8978:Fancd2	UTSW	6	113,562,507 (GRCm39)	splice site	probably benign
R9110:Fancd2	UTSW	6	113,512,762 (GRCm39)	missense	possibly damaging	0.94
R9116:Fancd2	UTSW	6	113,532,180 (GRCm39)	missense	probably benign	0.00
R9490:Fancd2	UTSW	6	113,555,416 (GRCm39)	missense	probably damaging	0.98
R9667:Fancd2	UTSW	6	113,530,717 (GRCm39)	nonsense	probably null
Z1088:Fancd2	UTSW	6	113,558,383 (GRCm39)	missense	probably benign	0.00
Z1177:Fancd2	UTSW	6	113,521,986 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGGTAATTGAAGTAGCTGGG -3'
(R):5'- GCACTCAGCATCATGTTACCG -3'

Sequencing Primer
(F):5'- TACATTTGCCAAGGATCCGG -3'
(R):5'- ACCGATATTTTGAGTTTGAGACAGG -3'

Posted On

2015-07-06