Mutagenetix > Incidental Mutation

Incidental Mutation 'R3787:Fancd2'

272307

Institutional Source

Beutler Lab

Gene Symbol

Fancd2

Ensembl Gene

ENSMUSG00000034023

Gene Name

Fanconi anemia, complementation group D2

Synonyms

2410150O07Rik

MMRRC Submission

040754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3787 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113531682-113597017 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 113565204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 770 (S770A)

Ref Sequence

ENSEMBL: ENSMUSP00000144928 (fasta)

Gene Model

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

AlphaFold

Q80V62

Predicted Effect

probably damaging
Transcript: ENSMUST00000036340
AA Change: S770A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: S770A

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

noncoding transcript
Transcript: ENSMUST00000204537

Predicted Effect

probably damaging
Transcript: ENSMUST00000204827
AA Change: S770A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: S770A

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

0.0802

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	T	5: 139,455,442	P35Q	probably damaging	Het
Aoc1	T	C	6: 48,905,655	L177P	probably damaging	Het
Aprt	T	C	8: 122,575,529	D65G	probably benign	Het
Auh	C	A	13: 52,929,457	R62L	possibly damaging	Het
Bmp4	C	T	14: 46,385,714		probably null	Het
Bptf	C	A	11: 107,073,827	D1514Y	probably damaging	Het
Carmil3	T	C	14: 55,496,976	F418S	probably damaging	Het
Ccdc112	C	T	18: 46,299,298	R72H	probably benign	Het
Ccdc138	T	C	10: 58,538,270	Y371H	probably damaging	Het
Chsy3	T	C	18: 59,408,998	Y403H	probably damaging	Het
Cul4a	T	C	8: 13,133,668	V352A	probably damaging	Het
D5Ertd577e	T	A	5: 95,482,897	L211Q	probably damaging	Het
Dennd3	T	C	15: 73,547,577	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,865,122	S763N	probably damaging	Het
Dmxl2	T	C	9: 54,369,878	D2893G	probably damaging	Het
Dnah8	A	G	17: 30,755,041	D2800G	probably damaging	Het
Dnaja2	C	T	8: 85,540,386	G281R	probably damaging	Het
Exo1	A	G	1: 175,899,469	T449A	probably benign	Het
Fmo1	A	T	1: 162,830,014	S519R	possibly damaging	Het
Fryl	T	C	5: 73,101,476	Y655C	probably benign	Het
Gpt2	G	T	8: 85,525,573	V506L	probably benign	Het
Heatr1	G	T	13: 12,434,460	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,647,686	L461P	probably damaging	Het
Magi2	C	T	5: 20,465,909	T580M	probably damaging	Het
Mcm9	A	G	10: 53,615,980	V415A	possibly damaging	Het
Mki67	A	T	7: 135,700,283	N1007K	possibly damaging	Het
Mpped1	A	T	15: 83,796,583		probably benign	Het
Mtpap	T	C	18: 4,380,670	V116A	probably damaging	Het
Myo15	A	T	11: 60,477,572	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,454,595	N148I	probably damaging	Het
Nfs1	A	G	2: 156,128,583	I270T	possibly damaging	Het
Nr1i3	A	G	1: 171,214,425	D26G	probably damaging	Het
Nsa2	G	T	13: 97,135,534	Q60K	possibly damaging	Het
Olfr61	G	A	7: 140,637,835	V45I	probably benign	Het
Olfr951	T	C	9: 39,394,382	V197A	probably benign	Het
Pde4dip	G	T	3: 97,715,552	P1447Q	possibly damaging	Het
Plxna2	A	G	1: 194,643,934	T59A	probably benign	Het
Pmepa1	G	A	2: 173,228,133	R210W	probably damaging	Het
Ppp1r12c	G	A	7: 4,486,584	A193V	probably damaging	Het
Prdm15	G	T	16: 97,797,745	H904Q	probably benign	Het
Rala	T	A	13: 17,882,446	E185V	probably benign	Het
Reep1	T	A	6: 71,795,215	D162E	probably damaging	Het
Rev3l	T	A	10: 39,846,210	L2528Q	probably damaging	Het
Rfc1	A	T	5: 65,296,014	S264T	probably benign	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Sipa1l2	C	T	8: 125,423,205	A1602T	probably benign	Het
Sipa1l2	C	A	8: 125,450,383	C1164F	possibly damaging	Het
Slc4a1ap	T	A	5: 31,528,139	L254I	possibly damaging	Het
Slc5a3	A	G	16: 92,077,928	N291S	possibly damaging	Het
Stab2	T	A	10: 86,969,277	D279V	possibly damaging	Het
Synrg	T	C	11: 84,001,920	F613S	probably damaging	Het
Tekt1	A	G	11: 72,344,894	I376T	probably damaging	Het
Thbs4	T	C	13: 92,773,164	N375S	probably benign	Het
Tro	G	A	X: 150,655,052	T203I	possibly damaging	Het
Txnl4b	C	T	8: 109,572,777	A123V	probably damaging	Het
Vmn1r63	T	A	7: 5,802,752	M294L	probably benign	Het
Vmn2r58	C	T	7: 41,864,074	D382N	probably benign	Het
Wap	G	A	11: 6,638,550	Q25*	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
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'- CACCAAAGTGGAAGGCGTTTTG -3'
(R):5'- GACAGCAGCAGGTACCAATG -3'

Sequencing Primer
(F):5'- TTGAAATAAAACAAAGCTTGACTCTC -3'
(R):5'- ATCTCTGCTTCGGCCAGAGAAG -3'

Posted On

2015-03-25