Mutagenetix > Incidental Mutation

Incidental Mutation 'R7354:Fancd2'

570799

Institutional Source

Beutler Lab

Gene Symbol

Fancd2

Ensembl Gene

ENSMUSG00000034023

Gene Name

Fanconi anemia, complementation group D2

Synonyms

2410150O07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113531682-113597017 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113595946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1447 (D1447G)

Ref Sequence

ENSEMBL: ENSMUSP00000045667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035870] [ENSMUST00000036340] [ENSMUST00000125139] [ENSMUST00000204827]

AlphaFold

Q80V62

PDB Structure

Structure of the FANCI-FANCD2 complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000035870

SMART Domains

Protein: ENSMUSP00000035316
Gene: ENSMUSG00000033963

Domain	Start	End	E-Value	Type
Pfam:DUF4563	3	178	1.4e-99	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000036340
AA Change: D1447G

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: D1447G

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: ENSMUST00000125139

SMART Domains

Protein: ENSMUSP00000121804
Gene: ENSMUSG00000033963

Domain	Start	End	E-Value	Type
Pfam:DUF4563	1	178	5.2e-109	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000204827
AA Change: D1434G

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: D1434G

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

0.0624

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (82/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	T	13: 59,741,834	L724*	probably null	Het
5430419D17Rik	G	A	7: 131,256,729	C1042Y	possibly damaging	Het
5430419D17Rik	G	T	7: 131,272,033	C1696F	unknown	Het
Ago3	T	A	4: 126,417,306	Q38L	possibly damaging	Het
Apon	T	A	10: 128,254,738	I95N	probably benign	Het
Arid1a	G	T	4: 133,693,947	P464Q	unknown	Het
Arid4b	A	G	13: 14,164,870	D503G	probably benign	Het
Asxl2	T	C	12: 3,455,637		probably benign	Het
Atp2a1	A	T	7: 126,448,856	V594D	probably damaging	Het
Begain	A	G	12: 109,033,289	F519L	possibly damaging	Het
Bora	A	G	14: 99,047,358	T15A	probably damaging	Het
Btbd7	A	T	12: 102,838,205	M192K	probably benign	Het
Ccdc125	T	G	13: 100,677,874		probably null	Het
Cfap74	G	T	4: 155,465,347	V146L	unknown	Het
Crisp1	G	A	17: 40,319,180		probably benign	Het
Ctbp1	A	T	5: 33,250,388	H292Q	possibly damaging	Het
Defb5	T	A	8: 19,250,734	M34K	probably benign	Het
Dnajc27	A	G	12: 4,096,249	I93V	probably benign	Het
Dqx1	T	A	6: 83,060,976	Y448*	probably null	Het
Dynap	A	T	18: 70,241,300	C52S	possibly damaging	Het
Ehd4	C	A	2: 120,102,132	R271L	probably damaging	Het
Ercc2	T	G	7: 19,393,654	I619S	possibly damaging	Het
Etf1	A	G	18: 34,905,987	I409T	probably damaging	Het
Fam117a	A	G	11: 95,380,703	D367G	probably damaging	Het
Fbxw9	T	C	8: 85,062,196	S192P	probably damaging	Het
Frzb	A	T	2: 80,446,809	L11Q	probably damaging	Het
Gm14496	T	C	2: 182,000,686	S717P	probably damaging	Het
Gm3250	A	G	10: 77,782,533		probably benign	Het
Gm4353	C	T	7: 116,083,911	R145Q	probably benign	Het
Gm765	T	A	6: 98,238,281	D127V	probably damaging	Het
Gpr12	A	T	5: 146,583,962	V50D	probably damaging	Het
Hes1	T	C	16: 30,065,928		probably null	Het
Hmcn1	A	T	1: 150,806,445	C451*	probably null	Het
Iars	T	C	13: 49,704,320	V347A	probably benign	Het
Igfn1	A	G	1: 135,976,032	S323P	possibly damaging	Het
Itga6	G	A	2: 71,820,230	A207T	probably damaging	Het
Lgi4	T	A	7: 31,060,622	L81H	probably damaging	Het
Lrp1	T	C	10: 127,571,408	E1888G	probably damaging	Het
Man2a1	C	T	17: 64,752,544	T1142M	probably damaging	Het
Mgam	A	T	6: 40,744,798	Y350F	probably damaging	Het
Miga1	T	C	3: 152,290,500	D351G	probably damaging	Het
Mro	A	G	18: 73,873,314	T111A	probably benign	Het
Mtrr	A	T	13: 68,566,207	V471E	probably damaging	Het
Myh3	C	A	11: 67,096,882	L1394I	probably damaging	Het
Myocd	A	G	11: 65,187,493	V492A	probably benign	Het
Nbeal2	A	G	9: 110,629,179	F2115S	probably damaging	Het
Nlrp1b	A	T	11: 71,181,550	M489K	possibly damaging	Het
Olfr1228	T	C	2: 89,248,687		probably null	Het
Olfr128	A	G	17: 37,924,393	I276V	probably benign	Het
Olfr1294	C	T	2: 111,537,564	A242T	possibly damaging	Het
Olfr376	A	T	11: 73,375,375	I212F	probably benign	Het
Olfr536	A	C	7: 140,504,186	I91R	probably damaging	Het
Orc2	A	G	1: 58,469,747	S462P	possibly damaging	Het
Pcdh9	T	C	14: 93,888,270	T155A	probably benign	Het
Pcdhb16	G	A	18: 37,478,124	V46I	possibly damaging	Het
Pcdhb22	A	G	18: 37,520,258	D336G	probably damaging	Het
Pde4dip	T	A	3: 97,719,330	R1297S	probably damaging	Het
Plin4	A	G	17: 56,104,427	M868T	probably benign	Het
Plxnb2	A	G	15: 89,165,725	M531T	possibly damaging	Het
Poc5	T	C	13: 96,394,525	V77A	probably benign	Het
Recql5	G	A	11: 115,928,201	R180C	probably damaging	Het
Rho	C	A	6: 115,935,503	Y268*	probably null	Het
Riok1	A	T	13: 38,047,312	H182L	probably benign	Het
Rnf207	T	C	4: 152,314,091	D273G	probably damaging	Het
Serpinb11	A	G	1: 107,377,533	Y213C	probably benign	Het
Slc16a10	T	C	10: 40,076,955	Y181C	probably damaging	Het
Slc22a15	G	A	3: 101,864,581	H401Y	probably benign	Het
Slc5a5	C	A	8: 70,889,603	R268L	probably damaging	Het
Slc9a8	T	C	2: 167,474,131	F576S	possibly damaging	Het
Slx4	T	C	16: 3,987,099	E617G	probably benign	Het
Top1	T	C	2: 160,704,958	I386T	probably damaging	Het
Tor1aip1	G	T	1: 156,036,113	D41E	probably damaging	Het
Tsc22d4	G	A	5: 137,768,109	R479Q	probably benign	Het
Unc79	C	T	12: 103,142,702	T2191I	possibly damaging	Het
Vmn2r109	A	T	17: 20,540,781	D771E	probably damaging	Het
Vmn2r82	A	C	10: 79,356,630	M14L	probably benign	Het
Zc3h7a	C	T	16: 11,148,514	S583N	probably damaging	Het
Zfp518b	G	A	5: 38,682,779		probably benign	Het
Zswim4	A	G	8: 84,228,849	W314R	probably damaging	Het

Other mutations in Fancd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Fancd2	APN	6	113564396	critical splice donor site	probably null
IGL00475:Fancd2	APN	6	113568610	missense	probably benign	0.01
IGL01319:Fancd2	APN	6	113584899	missense	probably damaging	0.98
IGL01339:Fancd2	APN	6	113553752	missense	probably benign	0.00
IGL01373:Fancd2	APN	6	113553752	missense	probably benign	0.00
IGL01393:Fancd2	APN	6	113577360	splice site	probably benign
IGL01630:Fancd2	APN	6	113563124	missense	probably damaging	1.00
IGL01769:Fancd2	APN	6	113545111	missense	possibly damaging	0.90
IGL01882:Fancd2	APN	6	113546640	missense	probably benign	0.05
IGL02029:Fancd2	APN	6	113570975	missense	probably benign	0.44
IGL02224:Fancd2	APN	6	113568320	critical splice donor site	probably null
IGL02271:Fancd2	APN	6	113535759	splice site	probably benign
IGL02352:Fancd2	APN	6	113563112	missense	probably damaging	1.00
IGL02359:Fancd2	APN	6	113563112	missense	probably damaging	1.00
IGL02427:Fancd2	APN	6	113549352	splice site	probably null
IGL02512:Fancd2	APN	6	113570943	missense	probably damaging	1.00
IGL02530:Fancd2	APN	6	113562461	missense	probably damaging	1.00
IGL02801:Fancd2	APN	6	113593317	missense	probably benign	0.00
IGL03090:Fancd2	APN	6	113537597	splice site	probably null
IGL03247:Fancd2	APN	6	113568208	missense	probably benign	0.03
R0278:Fancd2	UTSW	6	113548448	critical splice donor site	probably null
R0401:Fancd2	UTSW	6	113548343	missense	possibly damaging	0.46
R0420:Fancd2	UTSW	6	113536979	missense	probably damaging	0.98
R0496:Fancd2	UTSW	6	113555130	splice site	probably benign
R0762:Fancd2	UTSW	6	113574658	missense	probably benign	0.20
R0827:Fancd2	UTSW	6	113586249	critical splice donor site	probably null
R1225:Fancd2	UTSW	6	113535861	missense	probably damaging	0.99
R1576:Fancd2	UTSW	6	113578405	missense	probably damaging	0.98
R2010:Fancd2	UTSW	6	113593291	missense	probably damaging	0.96
R2079:Fancd2	UTSW	6	113555187	missense	probably damaging	1.00
R2118:Fancd2	UTSW	6	113560074	splice site	probably benign
R2141:Fancd2	UTSW	6	113549321	missense	probably benign	0.00
R2168:Fancd2	UTSW	6	113591159	missense	possibly damaging	0.92
R2180:Fancd2	UTSW	6	113574637	missense	probably benign	0.33
R3016:Fancd2	UTSW	6	113536726	missense	probably benign	0.00
R3153:Fancd2	UTSW	6	113593269	missense	possibly damaging	0.55
R3154:Fancd2	UTSW	6	113593269	missense	possibly damaging	0.55
R3783:Fancd2	UTSW	6	113565204	missense	probably damaging	1.00
R3786:Fancd2	UTSW	6	113565204	missense	probably damaging	1.00
R3787:Fancd2	UTSW	6	113565204	missense	probably damaging	1.00
R4379:Fancd2	UTSW	6	113561716	missense	probably benign	0.00
R4388:Fancd2	UTSW	6	113556368	missense	probably damaging	0.99
R4544:Fancd2	UTSW	6	113572642	critical splice acceptor site	probably null
R4598:Fancd2	UTSW	6	113585477	missense	probably benign	0.06
R4832:Fancd2	UTSW	6	113553722	missense	probably benign	0.16
R4841:Fancd2	UTSW	6	113562430	missense	probably damaging	1.00
R4922:Fancd2	UTSW	6	113585473	missense	probably benign	0.03
R5375:Fancd2	UTSW	6	113568712	missense	possibly damaging	0.93
R5579:Fancd2	UTSW	6	113560051	critical splice acceptor site	probably null
R5782:Fancd2	UTSW	6	113548872	missense	probably benign	0.00
R5871:Fancd2	UTSW	6	113556282	missense	probably benign	0.30
R5901:Fancd2	UTSW	6	113549365	missense	probably damaging	1.00
R5909:Fancd2	UTSW	6	113561711	missense	probably benign
R6026:Fancd2	UTSW	6	113551770	missense	possibly damaging	0.46
R6166:Fancd2	UTSW	6	113555251	missense	possibly damaging	0.67
R6393:Fancd2	UTSW	6	113578413	missense	probably benign	0.01
R6666:Fancd2	UTSW	6	113585509	missense	probably damaging	0.96
R6669:Fancd2	UTSW	6	113593327	missense	probably benign	0.00
R6676:Fancd2	UTSW	6	113537665	nonsense	probably null
R6762:Fancd2	UTSW	6	113586016	splice site	probably null
R6911:Fancd2	UTSW	6	113548385	missense	probably damaging	0.98
R6992:Fancd2	UTSW	6	113571018	critical splice donor site	probably null
R7091:Fancd2	UTSW	6	113545101	missense	probably damaging	1.00
R7252:Fancd2	UTSW	6	113556285	missense	probably damaging	0.98
R7343:Fancd2	UTSW	6	113536939	missense	probably benign	0.01
R7344:Fancd2	UTSW	6	113568709	missense	probably benign	0.09
R7489:Fancd2	UTSW	6	113564304	missense	probably benign
R7501:Fancd2	UTSW	6	113548403	missense	possibly damaging	0.95
R7504:Fancd2	UTSW	6	113545038	missense	probably damaging	1.00
R7992:Fancd2	UTSW	6	113565204	missense	probably damaging	1.00
R8027:Fancd2	UTSW	6	113546622	missense	probably damaging	1.00
R8487:Fancd2	UTSW	6	113568226	missense	probably damaging	1.00
R8509:Fancd2	UTSW	6	113572570	missense	probably benign	0.00
R8757:Fancd2	UTSW	6	113560093	missense	possibly damaging	0.91
R8960:Fancd2	UTSW	6	113563168	critical splice donor site	probably null
R8978:Fancd2	UTSW	6	113585546	splice site	probably benign
R9110:Fancd2	UTSW	6	113535801	missense	possibly damaging	0.94
R9116:Fancd2	UTSW	6	113555219	missense	probably benign	0.00
R9490:Fancd2	UTSW	6	113578455	missense	probably damaging	0.98
R9667:Fancd2	UTSW	6	113553756	nonsense	probably null
Z1088:Fancd2	UTSW	6	113581422	missense	probably benign	0.00
Z1177:Fancd2	UTSW	6	113545025	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGCATCTGCTTTAGCTTAGAAC -3'
(R):5'- CAACGATGGATGCTACACTGGAC -3'

Sequencing Primer
(F):5'- AGCACTGGCCTAAAGTAC -3'
(R):5'- ATGGATGCTACACTGGACTCCTG -3'

Posted On

2019-09-13