Mutagenetix > Incidental Mutation

Incidental Mutation 'R0278:Fancd2'

24462

Institutional Source

Beutler Lab

Gene Symbol

Fancd2

Ensembl Gene

ENSMUSG00000034023

Gene Name

Fanconi anemia, complementation group D2

Synonyms

2410150O07Rik

MMRRC Submission

038500-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113531682-113597017 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 113548448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144928 (fasta)

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000142453

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

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,378,215	S3429R	probably damaging	Het
Abca3	A	G	17: 24,381,920	D436G	probably benign	Het
Acacb	C	A	5: 114,233,259	Y1816*	probably null	Het
Acer3	T	C	7: 98,261,597	Y86C	probably damaging	Het
Adgre1	A	G	17: 57,447,872	I657V	probably benign	Het
Akap1	A	G	11: 88,845,194	V214A	probably benign	Het
Ankrd42	T	C	7: 92,631,657	R22G	possibly damaging	Het
Apc2	C	T	10: 80,312,813	P1234S	possibly damaging	Het
Atp13a4	A	G	16: 29,454,834	I441T	probably damaging	Het
Cenpu	G	A	8: 46,578,309	A242T	probably damaging	Het
Col6a6	A	T	9: 105,767,288	V1267E	possibly damaging	Het
Crhr2	T	C	6: 55,117,531	T58A	probably benign	Het
Ddx6	T	G	9: 44,631,425	C385G	probably damaging	Het
Dnah7a	A	T	1: 53,504,146	N2288K	probably benign	Het
Egfl8	A	T	17: 34,614,368		probably null	Het
Elmo2	A	T	2: 165,297,367	I420N	probably damaging	Het
Elovl4	A	G	9: 83,783,195	F113L	probably benign	Het
Fbxl13	A	G	5: 21,523,910	V456A	probably benign	Het
Fgfr2	A	T	7: 130,261,862		probably null	Het
Fkbpl	A	T	17: 34,645,410	R51*	probably null	Het
Fn3krp	G	A	11: 121,421,580	V40M	probably damaging	Het
Fnip1	A	G	11: 54,489,343		probably null	Het
Gm15446	A	T	5: 109,943,415	Q511L	probably benign	Het
Gm7334	A	G	17: 50,699,261	K192E	probably damaging	Het
H2-Q10	A	T	17: 35,473,307	T282S	possibly damaging	Het
Hspa9	A	G	18: 34,940,910	V482A	possibly damaging	Het
Ica1l	A	T	1: 60,013,996	S128T	probably benign	Het
Il7r	A	T	15: 9,516,337	I126K	probably damaging	Het
Kcnj8	T	C	6: 142,570,348	E11G	probably benign	Het
Klkb1	A	C	8: 45,272,409	F498V	probably benign	Het
Lama1	A	G	17: 67,810,183	E2491G	probably null	Het
Lhfpl2	T	C	13: 94,174,435	V71A	probably benign	Het
Lin9	T	C	1: 180,665,923	I198T	probably damaging	Het
Lrrc7	T	A	3: 158,179,795	M431L	possibly damaging	Het
Nmt2	A	G	2: 3,325,387	T519A	probably benign	Het
Olfr1043	A	T	2: 86,162,579	Y123*	probably null	Het
Olfr1247	A	T	2: 89,609,763	L113Q	probably damaging	Het
Olfr1247	G	T	2: 89,609,764	L113M	probably damaging	Het
Olfr1490	C	A	19: 13,654,764	L112I	probably damaging	Het
Olfr1490	T	A	19: 13,654,765	L112H	probably damaging	Het
Olfr412	T	C	11: 74,365,202	F178L	probably damaging	Het
Olfr871	G	T	9: 20,212,886	C179F	probably damaging	Het
Parp4	A	G	14: 56,607,523	R624G	probably damaging	Het
Pex16	C	T	2: 92,381,056	P325S	probably damaging	Het
Pik3ca	T	C	3: 32,439,753	M288T	possibly damaging	Het
Pla2g5	C	T	4: 138,800,656	D100N	probably benign	Het
Prss43	T	A	9: 110,827,362	M39K	probably benign	Het
Psd4	T	C	2: 24,394,438	S105P	probably damaging	Het
Ptprz1	T	A	6: 23,000,817	S969T	probably benign	Het
Rad23b	T	A	4: 55,383,575		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rpl10l	A	G	12: 66,284,356	M1T	probably null	Het
Sec16a	A	G	2: 26,428,316	S1588P	probably damaging	Het
Sh3rf1	A	T	8: 61,374,018	H602L	probably damaging	Het
Sparcl1	A	T	5: 104,088,397	S497T	probably benign	Het
Spata13	A	G	14: 60,692,088	Y365C	probably benign	Het
Trim5	T	C	7: 104,279,675	N20D	probably benign	Het
Vmn1r201	G	T	13: 22,475,024	W136L	probably damaging	Het
Vmn2r112	A	G	17: 22,603,006	I222V	probably benign	Het
Vmn2r56	A	T	7: 12,715,717	V198D	probably damaging	Het
Wapl	A	G	14: 34,692,612	D477G	possibly damaging	Het
Zfp202	C	A	9: 40,208,482	H194N	probably benign	Het
Zfp212	C	T	6: 47,926,519	R13W	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
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
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
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'- TGTTTTCCATTGTGAACTCAGGCCC -3'
(R):5'- AACAGACCGAGCTGTGTTCTCTCC -3'

Sequencing Primer
(F):5'- TGTGAACTCAGGCCCTGAATG -3'
(R):5'- TCTCCCAACAGCTATCTGGAAC -3'

Posted On

2013-04-16