Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Fancd2'

372900

Institutional Source

Beutler Lab

Gene Symbol

Fancd2

Ensembl Gene

ENSMUSG00000034023

Gene Name

Fanconi anemia, complementation group D2

Synonyms

2410150O07Rik

MMRRC Submission

042448-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113531682-113597017 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113553722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 439 (T439A)

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: T439A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: T439A

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: T40A

SMART Domains

Protein: ENSMUSP00000122091
Gene: ENSMUSG00000034023
AA Change: T40A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142453

Predicted Effect

probably benign
Transcript: ENSMUST00000204827
AA Change: T439A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: T439A

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,870,264	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,135,209	M198K	probably damaging	Het
4931406P16Rik	T	C	7: 34,238,908		probably benign	Het
4933402J07Rik	A	G	8: 87,567,973	K84R	probably null	Het
9930021J03Rik	G	T	19: 29,717,216	L1626I	possibly damaging	Het
A530099J19Rik	T	A	13: 19,729,670		noncoding transcript	Het
Aamdc	T	C	7: 97,550,566		probably null	Het
Abcc9	A	G	6: 142,671,556	V594A	probably damaging	Het
Adamts13	G	A	2: 26,989,402	D656N	probably benign	Het
Adcy10	G	T	1: 165,506,644	C122F	probably damaging	Het
Adi1	A	G	12: 28,675,253	M1V	probably null	Het
Ahnak	G	A	19: 9,012,460		probably benign	Het
Akt1	G	T	12: 112,657,087	P313Q	probably damaging	Het
Ano3	A	T	2: 110,667,722	M758K	probably damaging	Het
Baz2a	T	A	10: 128,123,130	N1168K	probably benign	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
Bcap29	A	G	12: 31,624,203	I131T	probably benign	Het
Btnl6	T	C	17: 34,513,992	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,500,567	I73T	probably benign	Het
Cdh2	A	G	18: 16,627,697	S538P	probably benign	Het
Cfap54	T	A	10: 92,967,528	M1551L	probably benign	Het
Chd2	G	A	7: 73,502,125	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,183,019	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,484,998	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,496,178	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,835,545		probably null	Het
Dab2	A	G	15: 6,336,599		probably null	Het
Dnah17	T	A	11: 118,026,780	I4158F	probably damaging	Het
Dnm2	G	A	9: 21,474,679		probably null	Het
Dpp7	A	T	2: 25,352,386		probably benign	Het
Epha6	T	A	16: 59,960,413	I642F	probably damaging	Het
Erbb4	T	C	1: 68,330,238	S415G	probably benign	Het
Fat1	G	A	8: 45,013,065	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,090,248	A884T	probably benign	Het
Fsip2	A	G	2: 82,990,171	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,991,852		probably benign	Het
Gm11544	C	T	11: 94,845,706		noncoding transcript	Het
Gnat2	A	C	3: 108,100,648	K304Q	probably benign	Het
Gramd4	C	T	15: 86,134,856	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,539,295	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,260,222	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,284,327	T315I	probably damaging	Het
Haus5	A	T	7: 30,657,027	F524I	probably damaging	Het
Herc1	A	G	9: 66,495,971	S4391G	probably benign	Het
Herc2	T	A	7: 56,098,417	L511*	probably null	Het
Htt	T	A	5: 34,824,840	C923S	probably benign	Het
Idua	T	C	5: 108,669,381	S7P	probably benign	Het
Ighv16-1	A	T	12: 114,068,846	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,271,201	K98R	probably benign	Het
Kif15	G	A	9: 123,002,126		probably null	Het
Leng9	C	A	7: 4,149,030	G216W	probably damaging	Het
Lrpprc	A	G	17: 84,707,156	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,715,389	E20D	possibly damaging	Het
Maob	T	C	X: 16,716,423	T400A	probably benign	Het
Map3k4	C	T	17: 12,271,780	E255K	probably damaging	Het
Megf9	G	A	4: 70,534,428	T132M	probably damaging	Het
Mob4	T	C	1: 55,145,252		probably benign	Het
Mttp	G	A	3: 138,116,050	A252V	probably benign	Het
Mxi1	A	G	19: 53,370,314	D226G	probably damaging	Het
Myh14	A	G	7: 44,625,142	S1249P	probably benign	Het
Mylk	G	A	16: 34,922,367	G1083D	probably benign	Het
Mylk4	T	G	13: 32,721,977	I408L	probably benign	Het
Nbas	A	G	12: 13,483,739	S1792G	probably benign	Het
Nelfb	A	G	2: 25,209,969	V212A	probably damaging	Het
Nisch	T	C	14: 31,177,630		probably benign	Het
Nqo1	C	G	8: 107,388,845	D267H	probably benign	Het
Olfr1037	C	A	2: 86,084,846	L310F	probably benign	Het
Pcid2	T	A	8: 13,085,425	I195F	probably damaging	Het
Pcnx2	A	T	8: 125,752,188	M2107K	probably damaging	Het
Pgd	A	T	4: 149,156,591		probably benign	Het
Prim2	T	C	1: 33,464,064	M430V	probably benign	Het
Prkaa1	A	G	15: 5,160,620	T40A	probably damaging	Het
Ptges	T	C	2: 30,903,220		probably benign	Het
Ptprn	T	C	1: 75,258,265	E226G	probably benign	Het
Rab14	A	G	2: 35,189,966	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,857,067		probably benign	Het
Rgs11	C	T	17: 26,207,568	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,376,349		probably null	Het
Rprd2	A	T	3: 95,774,171	V452E	probably damaging	Het
Scube3	C	A	17: 28,166,015	H646Q	probably damaging	Het
Selp	A	T	1: 164,126,340	I70F	probably damaging	Het
Sept2	A	G	1: 93,499,127	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,814,083	S170N	probably benign	Het
Skint4	A	T	4: 112,143,766	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,680,380	I41T	possibly damaging	Het
Snai2	T	C	16: 14,707,017	F129S	probably damaging	Het
Top3b	C	T	16: 16,890,662	R629*	probably null	Het
Trim17	T	A	11: 58,971,444	V434E	probably damaging	Het
Ttn	G	A	2: 76,784,983	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,001,847	I1391N	probably damaging	Het
Usp8	A	T	2: 126,755,038	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,835,038	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,113,989	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,216,110	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,605,540	I237T	probably damaging	Het
Zan	T	A	5: 137,393,161	D4687V	unknown	Het
Zfp273	T	C	13: 67,825,365	V204A	probably benign	Het
Zfp956	T	G	6: 47,952,053		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
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'- TGTGTGTCCACGCGATGATG -3'
(R):5'- CTGAGTTTTCCAAGCTATTAGCCAAAG -3'

Sequencing Primer
(F):5'- ATGTGAGGTCCGACAACTTG -3'
(R):5'- AGCCAAAGTTATTTCCCCTTCAATG -3'

Posted On

2016-03-01