Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01769:Fancd2'

153807

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 #

IGL01769

Quality Score

Status

Chromosome

Chromosomal Location

113508643-113573978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113522072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 222 (H222Q)

Ref Sequence

ENSEMBL: ENSMUSP00000144928 (fasta)

Gene Model

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

AlphaFold

Q80V62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036340
AA Change: H222Q

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: H222Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204827
AA Change: H222Q

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: H222Q

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,959,215 (GRCm39)	M162L	probably benign	Het
Aldh1a1	A	T	19: 20,620,283 (GRCm39)	T487S	probably benign	Het
Bahcc1	T	C	11: 120,171,030 (GRCm39)		probably benign	Het
Cldn10	G	A	14: 119,111,129 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,185,145 (GRCm39)	T657I	probably damaging	Het
Crb1	A	T	1: 139,264,806 (GRCm39)	I204K	probably damaging	Het
Crim1	C	A	17: 78,620,664 (GRCm39)	T368K	probably benign	Het
Csad	C	A	15: 102,088,516 (GRCm39)	V237L	probably benign	Het
Cyp39a1	T	G	17: 44,060,806 (GRCm39)	H451Q	possibly damaging	Het
Dclk2	T	C	3: 86,723,667 (GRCm39)	E376G	possibly damaging	Het
Dnah10	A	T	5: 124,842,008 (GRCm39)	Y1331F	possibly damaging	Het
Dnajc11	A	T	4: 152,063,759 (GRCm39)	I452L	probably damaging	Het
Dpf2	T	C	19: 5,962,810 (GRCm39)		probably benign	Het
Elovl2	A	C	13: 41,340,420 (GRCm39)	V225G	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Flt4	C	T	11: 49,525,998 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,409,834 (GRCm39)	V478A	possibly damaging	Het
H2-Q1	G	A	17: 35,542,505 (GRCm39)	V317M	probably benign	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Igkv3-5	G	A	6: 70,640,336 (GRCm39)		probably benign	Het
Isg20	G	A	7: 78,564,129 (GRCm39)	C12Y	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Nat8f5	G	A	6: 85,794,859 (GRCm39)	R34C	probably benign	Het
Or8d2	T	C	9: 38,759,629 (GRCm39)	V73A	probably benign	Het
Pramel7	A	G	2: 87,319,932 (GRCm39)	S454P	probably benign	Het
Rarb	T	A	14: 16,443,760 (GRCm38)	E176V	probably damaging	Het
Sema4a	T	A	3: 88,357,063 (GRCm39)	I303F	possibly damaging	Het
Slc25a24	G	A	3: 109,056,816 (GRCm39)	E110K	probably damaging	Het
Slc7a13	A	T	4: 19,839,527 (GRCm39)	I377L	probably benign	Het
Smim19	T	C	8: 22,953,393 (GRCm39)		probably null	Het
Tiam2	A	G	17: 3,477,565 (GRCm39)	Y596C	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Ubxn8	G	A	8: 34,119,406 (GRCm39)		probably benign	Het
Vmn2r108	C	A	17: 20,691,280 (GRCm39)	M414I	probably benign	Het
Vmn2r99	A	G	17: 19,600,377 (GRCm39)	N467S	probably damaging	Het
Zfp456	T	A	13: 67,515,272 (GRCm39)	T145S	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
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

2014-02-04