Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00401:Fancd2'

6340

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 #

IGL00401

Quality Score

Status

Chromosome

Chromosomal Location

113508643-113573978 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 113541357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144928 (fasta)

Gene Model

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

AlphaFold

Q80V62

Predicted Effect

probably null
Transcript: ENSMUST00000036340

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023

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: ENSMUST00000123738

SMART Domains

Protein: ENSMUSP00000122091
Gene: ENSMUSG00000034023

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129462

SMART Domains

Protein: ENSMUSP00000145220
Gene: ENSMUSG00000034023

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204537

Predicted Effect

probably null
Transcript: ENSMUST00000204827

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	T	A	17: 72,202,743 (GRCm39)	D1164V	probably damaging	Het
Baiap3	T	G	17: 25,463,302 (GRCm39)	L964F	probably damaging	Het
Cacna2d2	T	A	9: 107,392,072 (GRCm39)	V471E	probably damaging	Het
Carmil3	C	T	14: 55,735,755 (GRCm39)	T569M	probably damaging	Het
Dapk2	G	T	9: 66,176,060 (GRCm39)		probably benign	Het
Eps15l1	A	T	8: 73,138,682 (GRCm39)	Y291*	probably null	Het
Fmnl2	T	G	2: 53,004,929 (GRCm39)	D674E	probably damaging	Het
Foxq1	A	T	13: 31,743,260 (GRCm39)	I121F	probably damaging	Het
Galnt13	C	T	2: 54,406,547 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,389,782 (GRCm39)		probably benign	Het
Gm10220	A	T	5: 26,323,609 (GRCm39)	F146Y	possibly damaging	Het
Gm7353	A	G	7: 3,160,630 (GRCm39)		noncoding transcript	Het
Hspa9	G	A	18: 35,071,633 (GRCm39)		probably benign	Het
Kptn	A	G	7: 15,854,050 (GRCm39)	D56G	possibly damaging	Het
Krtap4-13	A	T	11: 99,700,543 (GRCm39)	C39S	unknown	Het
Lgsn	A	G	1: 31,242,647 (GRCm39)	K243R	possibly damaging	Het
Lyz2	C	T	10: 117,118,090 (GRCm39)	V20I	probably benign	Het
Mettl3	T	A	14: 52,534,424 (GRCm39)		probably benign	Het
Myh6	T	A	14: 55,190,874 (GRCm39)	M934L	probably benign	Het
Nmnat2	A	G	1: 152,969,863 (GRCm39)		probably null	Het
Pias2	T	A	18: 77,220,907 (GRCm39)	C381S	probably damaging	Het
Psme4	T	C	11: 30,771,079 (GRCm39)		probably benign	Het
Smc4	T	A	3: 68,937,712 (GRCm39)	D887E	probably damaging	Het
Sorcs2	C	A	5: 36,194,745 (GRCm39)		probably null	Het
Tet2	T	C	3: 133,172,643 (GRCm39)	E1873G	possibly damaging	Het
Txlng	T	A	X: 161,565,305 (GRCm39)	K341*	probably null	Het
Ugt2b37	T	A	5: 87,390,340 (GRCm39)	T369S	possibly damaging	Het
Usp46	C	A	5: 74,163,832 (GRCm39)	V302F	probably damaging	Het
Zfp292	A	G	4: 34,808,683 (GRCm39)	C1454R	probably benign	Het

Other mutations in Fancd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20