Mutagenetix > Incidental Mutation

Incidental Mutation 'R7489:Fancd2'

580407

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 #

R7489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113531682-113597017 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113564304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 724 (S724P)

Ref Sequence

ENSEMBL: ENSMUSP00000045667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036340] [ENSMUST00000129462] [ENSMUST00000204827]

AlphaFold

Q80V62

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036340
AA Change: S724P

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

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: S724P

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

probably benign
Transcript: ENSMUST00000129462

SMART Domains

Protein: ENSMUSP00000145220
Gene: ENSMUSG00000034023

Domain	Start	End	E-Value	Type
Pfam:FancD2	1	80	4.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204827
AA Change: S724P

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

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: S724P

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	T	16: 88,627,234	V123D	probably damaging	Het
4930503E14Rik	A	T	14: 44,170,299	N92K	probably damaging	Het
4930519G04Rik	T	C	5: 114,879,625	S166P	unknown	Het
Adgrb3	G	A	1: 25,547,505	T369I	probably damaging	Het
Agbl4	T	C	4: 111,526,658	S237P	probably damaging	Het
Ahi1	T	C	10: 20,963,750	C187R	probably benign	Het
Akap9	C	T	5: 4,004,933	T1626M	probably damaging	Het
Alas1	A	T	9: 106,241,634		probably null	Het
Apbb1	G	T	7: 105,567,480	T301N	probably benign	Het
Arhgap42	A	G	9: 9,006,358	V679A	probably benign	Het
Atp2a2	T	C	5: 122,467,767	D375G	probably benign	Het
Best1	A	G	19: 9,997,046	S45P	possibly damaging	Het
Bpifb4	A	C	2: 153,944,004	T21P	probably damaging	Het
Btbd11	T	A	10: 85,627,215	Y615N	probably damaging	Het
Cdx2	A	T	5: 147,306,672	M104K	probably benign	Het
Ces1d	A	T	8: 93,178,131	L327Q	probably damaging	Het
Ces2e	A	G	8: 104,929,780	H214R	probably benign	Het
Chd5	G	A	4: 152,373,468	G1014D	probably damaging	Het
Cmya5	T	A	13: 93,091,838	K2247N	possibly damaging	Het
Dip2c	T	C	13: 9,533,312	V110A	probably damaging	Het
Fam71b	G	C	11: 46,407,441	G524A		Het
Galnt1	T	A	18: 24,282,157	V485D	probably damaging	Het
Gli2	A	G	1: 118,838,175	S749P	probably benign	Het
H2-M5	A	C	17: 36,989,471	L12V	unknown	Het
Iqcf6	C	A	9: 106,627,457	Q107K	probably benign	Het
Itfg1	C	T	8: 85,767,001	C283Y	probably damaging	Het
Jak3	A	C	8: 71,684,292	K704T	probably damaging	Het
Kl	A	T	5: 150,952,996	T94S	probably damaging	Het
Krt73	A	C	15: 101,793,859	V523G	probably benign	Het
Lap3	T	C	5: 45,500,506	F215L	probably damaging	Het
Lce1c	G	A	3: 92,680,647	C127Y	unknown	Het
Map6	C	T	7: 99,268,061	R14C	probably damaging	Het
Mcm10	T	A	2: 5,001,301	K410M	probably damaging	Het
Med23	T	A	10: 24,904,356	N967K	probably damaging	Het
Mmp8	A	T	9: 7,561,387	T131S	probably benign	Het
Ms4a14	T	C	19: 11,302,031	I1054M	probably benign	Het
Mup14	A	G	4: 61,303,888	M1T	probably null	Het
Myzap	T	A	9: 71,561,038	T110S	probably benign	Het
Nmrk1	A	T	19: 18,642,242	K153M	probably damaging	Het
Nmrk1	G	T	19: 18,642,243	K153N	possibly damaging	Het
Olfr1267-ps1	T	A	2: 90,086,360	M34L	probably benign	Het
Olfr814	A	T	10: 129,874,682	I25N	probably damaging	Het
Pcdh12	T	C	18: 38,281,789	H761R	possibly damaging	Het
Pde4d	C	A	13: 109,116,767	L43I	unknown	Het
Prrc2a	A	T	17: 35,162,354	S46R	unknown	Het
Rab19	A	G	6: 39,388,105	T100A	probably benign	Het
Rad51b	C	T	12: 79,300,585	R8*	probably null	Het
Sclt1	A	T	3: 41,629,597	L642Q	probably damaging	Het
Scyl3	T	C	1: 163,949,176	I392T	possibly damaging	Het
Sipa1l3	A	G	7: 29,366,702	W1076R	probably damaging	Het
Slc12a9	C	A	5: 137,322,820	A478S	probably damaging	Het
Slc5a9	C	A	4: 111,883,916	C511F	probably damaging	Het
Sspo	T	C	6: 48,473,713	L2612P	probably damaging	Het
Synrg	C	T	11: 83,990,825	T329I	probably benign	Het
Tdrd9	A	G	12: 112,067,637	T1338A	probably benign	Het
Tenm4	A	T	7: 96,837,314	D996V	possibly damaging	Het
Ticam2	T	A	18: 46,560,517	I168L	probably damaging	Het
Tom1l1	T	C	11: 90,656,359	I374M	probably benign	Het
Trip10	A	T	17: 57,250,966	K51I	probably damaging	Het
Trpc6	T	A	9: 8,656,544	D735E	probably benign	Het
Trpm8	T	A	1: 88,379,759	N1050K	possibly damaging	Het
Tuba8	A	T	6: 121,226,021	D431V	probably damaging	Het
Ucn2	C	T	9: 108,986,254	T28I	possibly damaging	Het
Vmn1r21	C	T	6: 57,843,892	G189D	probably damaging	Het
Vmn2r8	T	C	5: 108,797,656	N695S	possibly damaging	Het
Xirp2	A	C	2: 67,525,560	N3555T	possibly damaging	Het
Zfp119a	A	T	17: 55,866,158	H228Q	probably damaging	Het
Zfr	T	A	15: 12,152,982	H566Q	probably benign	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
R7354:Fancd2	UTSW	6	113595946	missense	unknown
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'- ATTGCCCATGAGAGTCAGCAC -3'
(R):5'- TTACACGTCCAAGGTGCAGG -3'

Sequencing Primer
(F):5'- GCACACACTACCCTAGACTATTTGTC -3'
(R):5'- AAGGTGCAGGCCTGGTC -3'

Posted On

2019-10-07