Mutagenetix > Incidental Mutation

Incidental Mutation 'R5909:Fancd2'

460842

Institutional Source

Beutler Lab

Gene Symbol

Fancd2

Ensembl Gene

ENSMUSG00000034023

Gene Name

Fanconi anemia, complementation group D2

Synonyms

2410150O07Rik

MMRRC Submission

044106-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113531682-113597017 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113561711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 589 (V589E)

Ref Sequence

ENSEMBL: ENSMUSP00000144928 (fasta)

Gene Model

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

AlphaFold

Q80V62

Predicted Effect

probably benign
Transcript: ENSMUST00000036340
AA Change: V589E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: V589E

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

Predicted Effect

unknown
Transcript: ENSMUST00000123738
AA Change: V201E

SMART Domains

Protein: ENSMUSP00000122091
Gene: ENSMUSG00000034023
AA Change: V201E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204537

Predicted Effect

probably benign
Transcript: ENSMUST00000204827
AA Change: V589E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: V589E

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	T	C	9: 30,961,928	S810P	probably benign	Het
Adcy7	A	T	8: 88,325,496	I931F	probably damaging	Het
Alcam	G	T	16: 52,290,993	Q248K	probably benign	Het
Astn1	A	C	1: 158,601,937	R750S	probably damaging	Het
Atp1a2	A	T	1: 172,287,230	N329K	probably damaging	Het
Bcl6	A	G	16: 23,972,806	V266A	probably benign	Het
Bdp1	A	G	13: 100,092,286	V278A	probably benign	Het
Ccdc162	T	C	10: 41,561,115	E493G	probably damaging	Het
Cpvl	T	C	6: 53,932,428	Y241C	probably damaging	Het
Ddx55	T	C	5: 124,566,850	M390T	probably benign	Het
Ero1lb	A	G	13: 12,579,258	E102G	probably benign	Het
Etnk1	A	G	6: 143,197,438	D273G	probably benign	Het
Exoc3	A	G	13: 74,199,524	V109A	probably damaging	Het
F830016B08Rik	T	A	18: 60,300,019	I58N	probably damaging	Het
Fbll1	G	A	11: 35,798,332	R35C	unknown	Het
Fnbp1	A	G	2: 31,048,199		probably null	Het
Glce	G	T	9: 62,060,144	A575D	probably damaging	Het
Gm14548	G	A	7: 3,897,622	T43I	probably damaging	Het
Ift20	T	A	11: 78,540,041	M70K	possibly damaging	Het
Impg2	T	C	16: 56,258,136	V487A	probably damaging	Het
Isx	A	G	8: 74,892,798	D206G	probably benign	Het
Jak3	A	G	8: 71,684,231	I684V	possibly damaging	Het
Kdm5d	G	A	Y: 941,306	S1169N	probably benign	Het
Krt35	A	T	11: 100,095,813	L125Q	probably damaging	Het
Lama4	G	A	10: 39,072,859	A873T	probably benign	Het
Lrch4	T	C	5: 137,633,865	S74P	possibly damaging	Het
Maneal	A	T	4: 124,857,173	Y263*	probably null	Het
Mcat	C	T	15: 83,547,915	A251T	probably benign	Het
Mup3	T	G	4: 62,086,007	T90P	probably benign	Het
Mybpc2	G	A	7: 44,507,091	A812V	probably damaging	Het
Naa15	T	C	3: 51,460,064	F503L	probably damaging	Het
Nudt8	T	C	19: 4,000,727	L25S	possibly damaging	Het
Oas1e	A	T	5: 120,788,907	V245D	probably damaging	Het
Ofcc1	A	G	13: 40,263,578	M109T	possibly damaging	Het
Olfr1179	A	T	2: 88,402,191	F248I	probably damaging	Het
Olfr48	A	G	2: 89,844,391	V194A	possibly damaging	Het
Phkb	G	T	8: 86,021,447		probably null	Het
Pidd1	A	C	7: 141,441,270	L365R	probably damaging	Het
Pkd1l2	G	A	8: 117,024,056	R1739C	probably benign	Het
Pkdrej	A	T	15: 85,818,296	D1146E	possibly damaging	Het
Pkhd1l1	G	T	15: 44,526,763	W1425L	probably damaging	Het
Plxna4	A	G	6: 32,517,246	L145P	probably damaging	Het
Plxnd1	G	T	6: 115,968,688	D941E	probably benign	Het
Prdm13	G	T	4: 21,683,894	Q126K	unknown	Het
Rbm25	T	A	12: 83,681,588	V837E	probably damaging	Het
Rcc2	T	A	4: 140,717,068	Y357N	probably damaging	Het
Siglec1	A	T	2: 131,077,964	N882K	probably damaging	Het
Sox13	A	G	1: 133,383,889	I535T	probably benign	Het
Srrm2	T	C	17: 23,821,317	S2408P	probably benign	Het
Stat3	G	A	11: 100,903,730	T251I	probably benign	Het
Sulf1	A	T	1: 12,858,815	D102V	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tmem145	G	T	7: 25,308,193	L208F	possibly damaging	Het
Trim17	A	T	11: 58,968,680	E240V	probably damaging	Het
Trim43b	A	T	9: 89,085,398	I395K	possibly damaging	Het
Trmt61a	C	A	12: 111,680,858	H130N	probably damaging	Het
Unc5b	A	C	10: 60,772,359	L654R	probably damaging	Het
Vmn1r66	A	T	7: 10,274,342	S255T	probably benign	Het
Ylpm1	C	T	12: 85,040,886	P1148L	probably damaging	Het
Zbtb10	T	C	3: 9,280,049	F677S	probably benign	Het
Zfp493	T	A	13: 67,786,598	C223*	probably null	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
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'- CATAAGGCTGGTAACCTAGTGTG -3'
(R):5'- AGTCACAGACGTAGCTCAGTG -3'

Sequencing Primer
(F):5'- CCTAGTGTGACTGTCTCAGAAAAAG -3'
(R):5'- ACGTAGCTCAGTGGTAGTGCAC -3'

Posted On

2017-02-28