Incidental Mutation 'R4379:Fancd2'
| ID |
325242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fancd2
|
| Ensembl Gene |
ENSMUSG00000034023 |
| Gene Name |
Fanconi anemia, complementation group D2 |
| Synonyms |
2410150O07Rik |
| MMRRC Submission |
041677-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113508643-113573978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113538677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 591
(S591P)
|
| 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: S591P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: S591P
| 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
AA Change: S203P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000122091
Gene: ENSMUSG00000034023
AA Change: S203P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FancD2
|
1 |
246 |
5.7e-116 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204537
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204827
AA Change: S591P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: S591P
| 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: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
95% (53/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,915,875 (GRCm39) |
H1252Q |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,184,558 (GRCm39) |
L78P |
probably damaging |
Het |
| Agmat |
G |
T |
4: 141,484,802 (GRCm39) |
A282S |
probably benign |
Het |
| Akap8 |
G |
T |
17: 32,525,534 (GRCm39) |
T515K |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,540,488 (GRCm39) |
|
probably benign |
Het |
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| AW209491 |
T |
C |
13: 14,812,412 (GRCm39) |
*422Q |
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,557,099 (GRCm39) |
F576L |
probably damaging |
Het |
| Cers5 |
A |
G |
15: 99,649,134 (GRCm39) |
F45L |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,267,056 (GRCm39) |
I5011V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
| En1 |
A |
G |
1: 120,531,084 (GRCm39) |
N108S |
possibly damaging |
Het |
| Entrep3 |
A |
T |
3: 89,093,064 (GRCm39) |
D274V |
probably damaging |
Het |
| Glt1d1 |
T |
C |
5: 127,771,346 (GRCm39) |
V279A |
possibly damaging |
Het |
| Gm10051 |
C |
T |
5: 133,504,287 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
G |
T |
2: 21,830,025 (GRCm39) |
G690V |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Grm7 |
T |
A |
6: 111,223,335 (GRCm39) |
N458K |
probably benign |
Het |
| Hibadh |
G |
A |
6: 52,597,027 (GRCm39) |
S139L |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,308,906 (GRCm39) |
S382F |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,568,171 (GRCm39) |
N403D |
probably benign |
Het |
| Igkv4-81 |
A |
G |
6: 68,967,933 (GRCm39) |
L56S |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lmbr1l |
G |
T |
15: 98,807,144 (GRCm39) |
C212* |
probably null |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Lrrc34 |
A |
G |
3: 30,685,524 (GRCm39) |
L275P |
probably damaging |
Het |
| Mgam2-ps |
T |
C |
6: 40,810,793 (GRCm39) |
|
noncoding transcript |
Het |
| Mief1 |
T |
G |
15: 80,132,160 (GRCm39) |
M77R |
possibly damaging |
Het |
| Neurod6 |
T |
C |
6: 55,656,257 (GRCm39) |
T127A |
probably damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,494,738 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,288,554 (GRCm39) |
T653S |
probably benign |
Het |
| Nol7 |
G |
T |
13: 43,555,051 (GRCm39) |
W228L |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,194,948 (GRCm39) |
R468H |
probably damaging |
Het |
| Or5ac15 |
C |
T |
16: 58,940,027 (GRCm39) |
M135I |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,038 (GRCm39) |
L211P |
probably benign |
Het |
| Pbrm1 |
A |
T |
14: 30,789,663 (GRCm39) |
H785L |
probably damaging |
Het |
| Pus7 |
T |
C |
5: 23,953,864 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
G |
T |
2: 104,596,404 (GRCm39) |
|
probably null |
Het |
| Rrm1 |
T |
C |
7: 102,095,800 (GRCm39) |
V51A |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 79,129,896 (GRCm39) |
N112S |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,046,909 (GRCm39) |
H52Y |
probably damaging |
Het |
| Taf1d |
T |
A |
9: 15,223,277 (GRCm39) |
|
probably benign |
Het |
| Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,667,424 (GRCm39) |
Y103C |
probably damaging |
Het |
| Trim28 |
A |
T |
7: 12,763,407 (GRCm39) |
D516V |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,334,499 (GRCm39) |
N1164K |
possibly damaging |
Het |
| Vmn2r115 |
A |
G |
17: 23,564,197 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfp28 |
C |
T |
7: 6,396,441 (GRCm39) |
T292I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,649,858 (GRCm39) |
|
probably null |
Het |
| Zscan4d |
A |
G |
7: 10,898,905 (GRCm39) |
V124A |
probably benign |
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 |
|
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 |
|
R6669:Fancd2
|
UTSW |
6 |
113,570,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ATAAGGCTGGTAACCTAGTGTG -3'
(R):5'- AGTCACAGACGTAGCTCAGTG -3'
Sequencing Primer
(F):5'- CCTAGTGTGACTGTCTCAGAAAAAG -3'
(R):5'- ACGTAGCTCAGTGGTAGTGCAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation