Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02029:Fancd2'

184313

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fancd2

Ensembl Gene

ENSMUSG00000034023

Gene Name

Fanconi anemia, complementation group D2

Synonyms

2410150O07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02029

Quality Score

Status

Chromosome

Chromosomal Location

113508643-113573978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113547936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 938 (L938F)

Ref Sequence

ENSEMBL: ENSMUSP00000144928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036340] [ENSMUST00000129462] [ENSMUST00000204827]

AlphaFold

Q80V62

Predicted Effect

probably benign
Transcript: ENSMUST00000036340
AA Change: L938F

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: L938F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129462
AA Change: L50F

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145220
Gene: ENSMUSG00000034023
AA Change: L50F

Domain	Start	End	E-Value	Type
Pfam:FancD2	1	80	4.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204827
AA Change: L938F

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: L938F

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

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 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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	C	10: 126,916,152 (GRCm39)	V221A	unknown	Het
Akr1c13	T	A	13: 4,255,361 (GRCm39)	Y317*	probably null	Het
Bicd2	T	A	13: 49,522,975 (GRCm39)	I30N	probably damaging	Het
Cadm2	G	T	16: 66,544,182 (GRCm39)	N291K	probably damaging	Het
Ccdc61	C	T	7: 18,637,423 (GRCm39)	C68Y	probably damaging	Het
Ccnl2	A	G	4: 155,906,319 (GRCm39)	S351G	probably benign	Het
Cdcp1	A	G	9: 123,012,899 (GRCm39)		probably benign	Het
Clhc1	T	C	11: 29,510,798 (GRCm39)	S256P	probably benign	Het
Fam83h	T	C	15: 75,878,287 (GRCm39)	E37G	probably damaging	Het
Fbn2	G	T	18: 58,342,675 (GRCm39)	A68E	probably benign	Het
Fcrl1	T	A	3: 87,283,794 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,290,338 (GRCm39)	T892A	probably benign	Het
Gramd1a	C	T	7: 30,832,249 (GRCm39)	R596H	possibly damaging	Het
Limk1	A	T	5: 134,686,808 (GRCm39)	Y518*	probably null	Het
Map1a	A	G	2: 121,133,779 (GRCm39)	T1294A	possibly damaging	Het
Marchf3	G	A	18: 56,940,753 (GRCm39)	P126S	probably benign	Het
Ntn5	A	G	7: 45,336,015 (GRCm39)	I149V	probably benign	Het
Nup43	T	C	10: 7,543,347 (GRCm39)	F8L	possibly damaging	Het
Or5b122	A	T	19: 13,563,468 (GRCm39)	M267L	probably benign	Het
Or5be3	A	G	2: 86,864,245 (GRCm39)	F107L	probably benign	Het
P2rx6	C	T	16: 17,385,959 (GRCm39)	S236F	probably benign	Het
Peg10	G	T	6: 4,754,473 (GRCm39)		probably benign	Het
Runx2	T	A	17: 44,969,574 (GRCm39)	R238*	probably null	Het
Serpinb9d	A	T	13: 33,380,512 (GRCm39)	I133L	possibly damaging	Het
Snph	A	G	2: 151,435,527 (GRCm39)	V434A	probably damaging	Het
Trp53rkb	C	A	2: 166,637,314 (GRCm39)	P90Q	probably damaging	Het
Ttn	C	A	2: 76,580,148 (GRCm39)	E21836*	probably null	Het
Tut7	A	G	13: 59,932,702 (GRCm39)		probably benign	Het
Ube3c	T	A	5: 29,824,326 (GRCm39)	F507I	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,403 (GRCm39)	S70P	probably benign	Het
Zfp354b	C	T	11: 50,814,664 (GRCm39)	C87Y	probably benign	Het
Zfp462	G	T	4: 55,079,395 (GRCm39)		probably benign	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
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
R4388:Fancd2	UTSW	6	113,533,329 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2014-05-07