Mutagenetix > Incidental Mutations

Incidental Mutation 'R6026:Fancd2'

480037

Institutional Source

Beutler Lab

Gene Symbol

Fancd2

Ensembl Gene

ENSMUSG00000034023

Gene Name

Fanconi anemia, complementation group D2

Synonyms

2410150O07Rik

MMRRC Submission

044198-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6026 (G1)

Quality Score

208.009

Status

Validated

Chromosome

Chromosomal Location

113531682-113597017 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113551770 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 380 (V380A)

Ref Sequence

ENSEMBL: ENSMUSP00000144928 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036340
AA Change: V380A

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: V380A

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

noncoding transcript
Transcript: ENSMUST00000142453

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204827
AA Change: V380A

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: V380A

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

97% (73/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,425,755	D187G	probably benign	Het
4933421I07Rik	A	T	7: 42,446,284	M180K	probably benign	Het
Aatk	T	C	11: 120,012,364	H345R	possibly damaging	Het
Abcc8	T	C	7: 46,167,000	T239A	probably benign	Het
Abcf3	A	G	16: 20,550,570	E234G	probably damaging	Het
Actrt2	T	C	4: 154,666,590	D363G	possibly damaging	Het
Adam1a	A	T	5: 121,519,362	C623S	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Barhl2	T	A	5: 106,455,608	K228N	probably benign	Het
Blvrb	A	G	7: 27,462,690	H153R	probably damaging	Het
Capn9	A	G	8: 124,605,862	D480G	probably damaging	Het
Cct3	T	C	3: 88,311,722	I182T	possibly damaging	Het
Clasp2	A	G	9: 113,911,578	N1208D	probably benign	Het
Col26a1	A	G	5: 136,847,500	C89R	probably damaging	Het
Cops4	T	A	5: 100,542,328		probably benign	Het
Cpox	T	A	16: 58,670,935	W170R	probably damaging	Het
Ddx27	A	G	2: 167,033,640	K656E	probably benign	Het
Eif4e	T	C	3: 138,550,900	I66T	probably damaging	Het
Ercc3	T	C	18: 32,245,921		probably null	Het
Esp38	G	A	17: 39,955,141	C47Y	probably damaging	Het
Fbxw7	T	A	3: 84,952,641		probably null	Het
Fryl	T	G	5: 73,099,997	R736S	probably benign	Het
Gad2	G	A	2: 22,623,736	V62M	probably benign	Het
Gigyf2	A	G	1: 87,440,732	T1045A	probably damaging	Het
Gm13090	T	A	4: 151,090,700	L78*	probably null	Het
Gm19410	G	A	8: 35,812,426	S1815N	probably benign	Het
Gm28051	A	T	12: 102,720,185	L72Q	unknown	Het
Gm44511	T	C	6: 128,820,277	T83A	possibly damaging	Het
Grk2	C	T	19: 4,290,783	V246I	probably damaging	Het
Grm7	C	T	6: 111,501,539	Q62*	probably null	Het
Gsdmc3	T	A	15: 63,866,751	E154V	probably damaging	Het
Gstz1	A	C	12: 87,160,174	Q114P	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hhip	A	T	8: 79,972,440	C666S	probably damaging	Het
Hif1a	A	C	12: 73,932,281	H193P	probably damaging	Het
Hyal2	A	G	9: 107,572,199	T385A	probably benign	Het
Ihh	T	C	1: 74,946,727	T200A	probably benign	Het
Iqgap3	T	A	3: 88,090,171	V218E	probably damaging	Het
Lct	A	G	1: 128,300,018	I1246T	probably benign	Het
Lmo7	T	C	14: 101,880,990	V217A	probably benign	Het
Lrp1	C	T	10: 127,573,403	D1616N	probably damaging	Het
Lrrfip2	A	T	9: 111,214,171	T165S	probably damaging	Het
Morc2b	A	G	17: 33,137,983	Y272H	possibly damaging	Het
Muc16	A	G	9: 18,659,858	M455T	unknown	Het
Ncapg2	A	T	12: 116,443,021	D939V	possibly damaging	Het
Ncbp3	T	C	11: 73,067,722	V236A	probably benign	Het
Obscn	T	A	11: 59,067,090	T3595S	probably damaging	Het
Odf2l	T	C	3: 145,149,036	S545P	possibly damaging	Het
Olfr410	T	A	11: 74,335,088	I48F	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Pdzrn3	A	C	6: 101,362,144	C269G	probably benign	Het
Pear1	T	A	3: 87,756,913	N278Y	probably damaging	Het
Phb	C	T	11: 95,671,419	R41*	probably null	Het
Pikfyve	T	C	1: 65,272,697	V2031A	probably damaging	Het
Plxna2	A	G	1: 194,799,814	I1465V	probably damaging	Het
Ppp6r2	A	G	15: 89,282,910	N776S	probably benign	Het
Prkce	A	T	17: 86,493,230	E358V	probably benign	Het
Prl5a1	A	T	13: 28,151,264	I219F	probably benign	Het
Prss3	T	C	6: 41,377,554		probably null	Het
Ptprc	A	T	1: 138,071,249	M858K	probably damaging	Het
Retreg3	T	C	11: 101,106,400	T85A	probably damaging	Het
Rfc2	T	A	5: 134,595,331	C265S	probably damaging	Het
Smarcd1	G	T	15: 99,705,738	V256L	probably damaging	Het
Stat5a	T	C	11: 100,880,316	F574L	probably damaging	Het
Tcirg1	T	C	19: 3,897,487	H624R	probably benign	Het
Tcstv1	C	A	13: 119,894,451		probably benign	Het
Tenm2	C	T	11: 36,072,729		probably null	Het
Tomm40	A	G	7: 19,710,964	V164A	probably benign	Het
Txnl4a	T	C	18: 80,207,267	V26A	probably damaging	Het
Ugt2a3	A	T	5: 87,336,477	F229L	probably benign	Het
Utp20	T	C	10: 88,768,679	T1785A	probably benign	Het
Vmn1r22	T	A	6: 57,900,405	I196L	probably benign	Het
Zfp652	T	G	11: 95,749,962	C238G	possibly 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
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
R7354:Fancd2	UTSW	6	113595946	missense	unknown
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
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'- CTCTGTTTAAAAGCGGGTTAGC -3'
(R):5'- GGCATGTCTCCACCTGCAC -3'

Sequencing Primer
(F):5'- GGCTATACAGAGAAACCCTGTGTC -3'
(R):5'- GCACCCACTACTTCCCGTAC -3'

Posted On

2017-06-26