Mutagenetix > Incidental Mutation

Incidental Mutation 'R6669:Fancd2'

528053

Institutional Source

Beutler Lab

Gene Symbol

Fancd2

Ensembl Gene

ENSMUSG00000034023

Gene Name

Fanconi anemia, complementation group D2

Synonyms

2410150O07Rik

MMRRC Submission

044789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6669 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113508643-113573978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113570288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1413 (T1413I)

Ref Sequence

ENSEMBL: ENSMUSP00000144928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035870] [ENSMUST00000036340] [ENSMUST00000125139] [ENSMUST00000204827]

AlphaFold

Q80V62

Predicted Effect

probably benign
Transcript: ENSMUST00000035870

SMART Domains

Protein: ENSMUSP00000035316
Gene: ENSMUSG00000033963

Domain	Start	End	E-Value	Type
Pfam:DUF4563	3	178	1.4e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036340
AA Change: T1426I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: T1426I

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: ENSMUST00000125139

SMART Domains

Protein: ENSMUSP00000121804
Gene: ENSMUSG00000033963

Domain	Start	End	E-Value	Type
Pfam:DUF4563	1	178	5.2e-109	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204827
AA Change: T1413I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: T1413I

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

0.0694

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.5%

Validation Efficiency

97% (33/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,716,469 (GRCm39)	I1952V	probably benign	Het
Atg2b	T	C	12: 105,637,788 (GRCm39)	E142G	possibly damaging	Het
Bbc3	G	T	7: 16,047,641 (GRCm39)	A122S	possibly damaging	Het
Cenpu	T	C	8: 47,029,319 (GRCm39)	S191P	probably damaging	Het
Clic3	G	T	2: 25,347,779 (GRCm39)	R48L	possibly damaging	Het
Cmya5	T	C	13: 93,229,767 (GRCm39)	K1774E	probably benign	Het
Cnst	T	A	1: 179,432,638 (GRCm39)		probably null	Het
Cyfip1	T	A	7: 55,549,809 (GRCm39)	S657T	probably damaging	Het
Dock10	T	C	1: 80,570,572 (GRCm39)	Y322C	probably damaging	Het
Epn2	C	T	11: 61,410,384 (GRCm39)	V550I	probably benign	Het
Evc2	C	T	5: 37,535,722 (GRCm39)	P466S	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Herc4	T	A	10: 63,121,847 (GRCm39)	W400R	probably benign	Het
Kcna7	T	C	7: 45,058,988 (GRCm39)	V425A	probably damaging	Het
Klhl3	A	T	13: 58,158,966 (GRCm39)	D564E	probably benign	Het
Man2b2	T	C	5: 36,967,702 (GRCm39)	I889V	probably benign	Het
Mcm3ap	A	G	10: 76,343,171 (GRCm39)	I1688V	probably damaging	Het
Mocos	T	A	18: 24,799,467 (GRCm39)	F234I	probably damaging	Het
Muc20	T	C	16: 32,614,307 (GRCm39)	T357A	possibly damaging	Het
Ncoa6	T	G	2: 155,241,613 (GRCm39)		probably null	Het
Nlk	C	A	11: 78,477,892 (GRCm39)	G284*	probably null	Het
Nrxn1	T	A	17: 90,366,991 (GRCm39)	T12S	probably damaging	Het
Nrxn2	A	G	19: 6,531,221 (GRCm39)	Y627C	probably damaging	Het
Ntn1	T	C	11: 68,276,576 (GRCm39)	N124S	probably benign	Het
Pdzd7	T	A	19: 45,025,190 (GRCm39)	Q435L	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Slc30a10	G	A	1: 185,196,625 (GRCm39)	R429Q	probably benign	Het
Tox4	T	C	14: 52,524,213 (GRCm39)	Y116H	probably damaging	Het
Trpv5	G	A	6: 41,634,976 (GRCm39)	A451V	probably damaging	Het
Ube3a	T	C	7: 58,926,605 (GRCm39)	V482A	probably benign	Het
Vcan	A	T	13: 89,852,850 (GRCm39)	D703E	probably benign	Het
Xirp2	C	A	2: 67,343,699 (GRCm39)	A1980E	possibly damaging	Het
Xrcc1	T	C	7: 24,246,762 (GRCm39)	V10A	probably damaging	Het

Other mutations in Fancd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Fancd2	APN	6	113,541,357 (GRCm39)	critical splice donor site	probably null
IGL00475:Fancd2	APN	6	113,545,571 (GRCm39)	missense	probably benign	0.01
IGL01319:Fancd2	APN	6	113,561,860 (GRCm39)	missense	probably damaging	0.98
IGL01339:Fancd2	APN	6	113,530,713 (GRCm39)	missense	probably benign	0.00
IGL01373:Fancd2	APN	6	113,530,713 (GRCm39)	missense	probably benign	0.00
IGL01393:Fancd2	APN	6	113,554,321 (GRCm39)	splice site	probably benign
IGL01630:Fancd2	APN	6	113,540,085 (GRCm39)	missense	probably damaging	1.00
IGL01769:Fancd2	APN	6	113,522,072 (GRCm39)	missense	possibly damaging	0.90
IGL01882:Fancd2	APN	6	113,523,601 (GRCm39)	missense	probably benign	0.05
IGL02029:Fancd2	APN	6	113,547,936 (GRCm39)	missense	probably benign	0.44
IGL02224:Fancd2	APN	6	113,545,281 (GRCm39)	critical splice donor site	probably null
IGL02271:Fancd2	APN	6	113,512,720 (GRCm39)	splice site	probably benign
IGL02352:Fancd2	APN	6	113,540,073 (GRCm39)	missense	probably damaging	1.00
IGL02359:Fancd2	APN	6	113,540,073 (GRCm39)	missense	probably damaging	1.00
IGL02427:Fancd2	APN	6	113,526,313 (GRCm39)	splice site	probably null
IGL02512:Fancd2	APN	6	113,547,904 (GRCm39)	missense	probably damaging	1.00
IGL02530:Fancd2	APN	6	113,539,422 (GRCm39)	missense	probably damaging	1.00
IGL02801:Fancd2	APN	6	113,570,278 (GRCm39)	missense	probably benign	0.00
IGL03090:Fancd2	APN	6	113,514,558 (GRCm39)	splice site	probably null
IGL03247:Fancd2	APN	6	113,545,169 (GRCm39)	missense	probably benign	0.03
R0278:Fancd2	UTSW	6	113,525,409 (GRCm39)	critical splice donor site	probably null
R0401:Fancd2	UTSW	6	113,525,304 (GRCm39)	missense	possibly damaging	0.46
R0420:Fancd2	UTSW	6	113,513,940 (GRCm39)	missense	probably damaging	0.98
R0496:Fancd2	UTSW	6	113,532,091 (GRCm39)	splice site	probably benign
R0762:Fancd2	UTSW	6	113,551,619 (GRCm39)	missense	probably benign	0.20
R0827:Fancd2	UTSW	6	113,563,210 (GRCm39)	critical splice donor site	probably null
R1225:Fancd2	UTSW	6	113,512,822 (GRCm39)	missense	probably damaging	0.99
R1576:Fancd2	UTSW	6	113,555,366 (GRCm39)	missense	probably damaging	0.98
R2010:Fancd2	UTSW	6	113,570,252 (GRCm39)	missense	probably damaging	0.96
R2079:Fancd2	UTSW	6	113,532,148 (GRCm39)	missense	probably damaging	1.00
R2118:Fancd2	UTSW	6	113,537,035 (GRCm39)	splice site	probably benign
R2141:Fancd2	UTSW	6	113,526,282 (GRCm39)	missense	probably benign	0.00
R2168:Fancd2	UTSW	6	113,568,120 (GRCm39)	missense	possibly damaging	0.92
R2180:Fancd2	UTSW	6	113,551,598 (GRCm39)	missense	probably benign	0.33
R3016:Fancd2	UTSW	6	113,513,687 (GRCm39)	missense	probably benign	0.00
R3153:Fancd2	UTSW	6	113,570,230 (GRCm39)	missense	possibly damaging	0.55
R3154:Fancd2	UTSW	6	113,570,230 (GRCm39)	missense	possibly damaging	0.55
R3783:Fancd2	UTSW	6	113,542,165 (GRCm39)	missense	probably damaging	1.00
R3786:Fancd2	UTSW	6	113,542,165 (GRCm39)	missense	probably damaging	1.00
R3787:Fancd2	UTSW	6	113,542,165 (GRCm39)	missense	probably damaging	1.00
R4379:Fancd2	UTSW	6	113,538,677 (GRCm39)	missense	probably benign	0.00
R4388:Fancd2	UTSW	6	113,533,329 (GRCm39)	missense	probably damaging	0.99
R4544:Fancd2	UTSW	6	113,549,603 (GRCm39)	critical splice acceptor site	probably null
R4598:Fancd2	UTSW	6	113,562,438 (GRCm39)	missense	probably benign	0.06
R4832:Fancd2	UTSW	6	113,530,683 (GRCm39)	missense	probably benign	0.16
R4841:Fancd2	UTSW	6	113,539,391 (GRCm39)	missense	probably damaging	1.00
R4922:Fancd2	UTSW	6	113,562,434 (GRCm39)	missense	probably benign	0.03
R5375:Fancd2	UTSW	6	113,545,673 (GRCm39)	missense	possibly damaging	0.93
R5579:Fancd2	UTSW	6	113,537,012 (GRCm39)	critical splice acceptor site	probably null
R5782:Fancd2	UTSW	6	113,525,833 (GRCm39)	missense	probably benign	0.00
R5871:Fancd2	UTSW	6	113,533,243 (GRCm39)	missense	probably benign	0.30
R5901:Fancd2	UTSW	6	113,526,326 (GRCm39)	missense	probably damaging	1.00
R5909:Fancd2	UTSW	6	113,538,672 (GRCm39)	missense	probably benign
R6026:Fancd2	UTSW	6	113,528,731 (GRCm39)	missense	possibly damaging	0.46
R6166:Fancd2	UTSW	6	113,532,212 (GRCm39)	missense	possibly damaging	0.67
R6393:Fancd2	UTSW	6	113,555,374 (GRCm39)	missense	probably benign	0.01
R6666:Fancd2	UTSW	6	113,562,470 (GRCm39)	missense	probably damaging	0.96
R6676:Fancd2	UTSW	6	113,514,626 (GRCm39)	nonsense	probably null
R6762:Fancd2	UTSW	6	113,562,977 (GRCm39)	splice site	probably null
R6911:Fancd2	UTSW	6	113,525,346 (GRCm39)	missense	probably damaging	0.98
R6992:Fancd2	UTSW	6	113,547,979 (GRCm39)	critical splice donor site	probably null
R7091:Fancd2	UTSW	6	113,522,062 (GRCm39)	missense	probably damaging	1.00
R7252:Fancd2	UTSW	6	113,533,246 (GRCm39)	missense	probably damaging	0.98
R7343:Fancd2	UTSW	6	113,513,900 (GRCm39)	missense	probably benign	0.01
R7344:Fancd2	UTSW	6	113,545,670 (GRCm39)	missense	probably benign	0.09
R7354:Fancd2	UTSW	6	113,572,907 (GRCm39)	missense	unknown
R7489:Fancd2	UTSW	6	113,541,265 (GRCm39)	missense	probably benign
R7501:Fancd2	UTSW	6	113,525,364 (GRCm39)	missense	possibly damaging	0.95
R7504:Fancd2	UTSW	6	113,521,999 (GRCm39)	missense	probably damaging	1.00
R7992:Fancd2	UTSW	6	113,542,165 (GRCm39)	missense	probably damaging	1.00
R8027:Fancd2	UTSW	6	113,523,583 (GRCm39)	missense	probably damaging	1.00
R8487:Fancd2	UTSW	6	113,545,187 (GRCm39)	missense	probably damaging	1.00
R8509:Fancd2	UTSW	6	113,549,531 (GRCm39)	missense	probably benign	0.00
R8757:Fancd2	UTSW	6	113,537,054 (GRCm39)	missense	possibly damaging	0.91
R8960:Fancd2	UTSW	6	113,540,129 (GRCm39)	critical splice donor site	probably null
R8978:Fancd2	UTSW	6	113,562,507 (GRCm39)	splice site	probably benign
R9110:Fancd2	UTSW	6	113,512,762 (GRCm39)	missense	possibly damaging	0.94
R9116:Fancd2	UTSW	6	113,532,180 (GRCm39)	missense	probably benign	0.00
R9490:Fancd2	UTSW	6	113,555,416 (GRCm39)	missense	probably damaging	0.98
R9667:Fancd2	UTSW	6	113,530,717 (GRCm39)	nonsense	probably null
Z1088:Fancd2	UTSW	6	113,558,383 (GRCm39)	missense	probably benign	0.00
Z1177:Fancd2	UTSW	6	113,521,986 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTTCCCTGAATGATAGGTCAGAG -3'
(R):5'- ATGGATCCCAAAGCATTCATGTAAG -3'

Sequencing Primer
(F):5'- TGAAGGGCTAGAATATTGCTTCTC -3'
(R):5'- ATCCTGTACTTTCTGCTAAC -3'

Posted On

2018-07-24