Mutagenetix > Incidental Mutation

Incidental Mutation 'R4922:Fancd2'

434628

Institutional Source

Beutler Lab

Gene Symbol

Fancd2

Ensembl Gene

ENSMUSG00000034023

Gene Name

Fanconi anemia, complementation group D2

Synonyms

2410150O07Rik

MMRRC Submission

042524-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113531682-113597017 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113585473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1258 (V1258A)

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: V1258A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: V1258A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124262

Predicted Effect

probably benign
Transcript: ENSMUST00000204827
AA Change: V1258A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: V1258A

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (76/78)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900011O08Rik	A	G	16: 13,986,819	H10R	possibly damaging	Het
4932438A13Rik	T	A	3: 36,987,165	I2564K	probably damaging	Het
5830473C10Rik	A	G	5: 90,579,711	H396R	possibly damaging	Het
Adgrb2	G	T	4: 130,007,852	C423F	probably damaging	Het
Akap11	A	T	14: 78,512,780	Y722*	probably null	Het
Anxa3	A	T	5: 96,820,429	I114F	probably damaging	Het
Arfgef3	T	A	10: 18,592,186	R1755S	probably damaging	Het
Atf7ip	A	T	6: 136,560,041	T91S	possibly damaging	Het
B020004J07Rik	T	A	4: 101,835,532	M424L	probably benign	Het
Bcl2	C	A	1: 106,712,646	A79S	probably benign	Het
Bmp10	C	T	6: 87,433,575	P117S	probably benign	Het
Bmpr2	A	G	1: 59,867,424	T559A	probably benign	Het
Cd200r1	A	T	16: 44,789,676	Y86F	probably damaging	Het
Cemip	T	A	7: 83,947,100		probably benign	Het
Cfap52	A	G	11: 67,931,722		probably null	Het
Chml	T	C	1: 175,687,146	H60R	possibly damaging	Het
Cic	TCCCCC	TCCCCCCCC	7: 25,291,670		probably benign	Het
Clec12a	A	G	6: 129,359,478	Y201C	probably damaging	Het
Col15a1	T	C	4: 47,258,719	V370A	probably benign	Het
Cpsf3	T	C	12: 21,301,537	I353T	probably damaging	Het
Csf2rb	T	A	15: 78,346,467	V470E	probably benign	Het
Cyp4a10	C	A	4: 115,521,094	Q126K	probably benign	Het
Dennd1b	T	C	1: 139,085,914	S249P	probably damaging	Het
Dnase2a	A	G	8: 84,908,996		probably null	Het
Dpp10	T	C	1: 123,378,153	N490S	probably benign	Het
Enc1	C	T	13: 97,245,735	A251V	probably benign	Het
Fancm	G	A	12: 65,106,892		probably null	Het
Fbxo16	C	T	14: 65,299,208	T177I	probably benign	Het
Gm10471	A	T	5: 26,084,793	I212N	probably damaging	Het
Gm1965	T	C	6: 89,146,543		noncoding transcript	Het
Gm6768	A	G	12: 119,262,517		noncoding transcript	Het
Hal	A	T	10: 93,503,539	M497L	probably damaging	Het
Hectd4	T	C	5: 121,359,315	L3936S	possibly damaging	Het
Hs3st4	G	T	7: 124,397,187	G359W	probably damaging	Het
Il6st	C	T	13: 112,502,865	P608L	probably damaging	Het
Kctd18	A	C	1: 57,965,548		probably benign	Het
Kntc1	T	A	5: 123,802,246	S1636T	probably damaging	Het
Lrrn1	A	T	6: 107,568,350	S370C	probably damaging	Het
Mtcl1	A	C	17: 66,348,479	C968G	probably benign	Het
Mylip	G	A	13: 45,408,762	A347T	probably damaging	Het
Naip2	T	C	13: 100,154,960	S1157G	probably benign	Het
Neu4	T	A	1: 94,022,478	V53E	probably damaging	Het
Nxpe3	T	C	16: 55,860,324	I302V	probably benign	Het
Olfr1229	A	T	2: 89,282,467	L243Q	possibly damaging	Het
Olfr266	A	T	3: 106,822,260	C100S	probably damaging	Het
Otos	T	C	1: 92,644,368	T79A	probably damaging	Het
Pde4a	T	C	9: 21,210,713	I578T	probably damaging	Het
Prex2	C	T	1: 11,169,940	P927S	probably damaging	Het
Prrxl1	A	T	14: 32,608,406	N160I	probably damaging	Het
Prune2	A	T	19: 17,122,752	K1873N	probably benign	Het
Ptk7	C	A	17: 46,576,491		probably null	Het
Reln	T	A	5: 21,995,587		probably null	Het
Rgl2	A	G	17: 33,932,775		probably benign	Het
Rnf145	T	A	11: 44,557,236		probably benign	Het
Ryr2	T	C	13: 11,709,963	E2488G	probably damaging	Het
Sgo2b	A	T	8: 63,926,630	M1056K	possibly damaging	Het
Snapc4	A	G	2: 26,369,233	V635A	probably benign	Het
Snx19	T	A	9: 30,437,467	Y101N	probably benign	Het
Sorl1	C	A	9: 42,014,450		probably null	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Tmem30b	G	A	12: 73,545,714	P209L	probably damaging	Het
Trbv12-2	G	T	6: 41,119,147	C52F	probably damaging	Het
Tsc2	T	A	17: 24,600,369	D1304V	probably benign	Het
Ugt2b36	T	C	5: 87,066,324	Y487C	probably damaging	Het
Vmn1r10	T	A	6: 57,113,826	N134K	probably damaging	Het
Wdr27	C	A	17: 14,920,754		probably null	Het
Wdr66	T	C	5: 123,256,053	V335A	probably benign	Het
Wdr75	T	C	1: 45,816,478	F430L	probably damaging	Het
Zfp629	A	G	7: 127,612,127	I170T	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
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'- AGAGGCTTGTAGCTACGTGG -3'
(R):5'- CCCAAAATGAACAGGGGTCATG -3'

Sequencing Primer
(F):5'- CTACGTGGAAGTAACTGTGTCCC -3'
(R):5'- GGGAGTTAACAGGGCCCG -3'

Posted On

2016-10-13