Incidental Mutation 'R0041:Fancm'
| ID |
15515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fancm
|
| Ensembl Gene |
ENSMUSG00000055884 |
| Gene Name |
Fanconi anemia, complementation group M |
| Synonyms |
D12Ertd364e, C730036B14Rik |
| MMRRC Submission |
038335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R0041 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65122377-65178832 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 65153217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 1224
(C1224*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058889]
[ENSMUST00000221838]
[ENSMUST00000222540]
|
| AlphaFold |
Q8BGE5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058889
AA Change: C1224*
|
| SMART Domains |
Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: C1224*
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
75 |
275 |
5.6e-25 |
SMART |
|
Blast:DEXDc
|
295 |
323 |
9e-6 |
BLAST |
|
low complexity region
|
339 |
348 |
N/A |
INTRINSIC |
|
HELICc
|
475 |
566 |
5.64e-21 |
SMART |
|
Pfam:FANCM-MHF_bd
|
657 |
770 |
8.5e-50 |
PFAM |
|
low complexity region
|
850 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
974 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1120 |
N/A |
INTRINSIC |
|
low complexity region
|
1165 |
1178 |
N/A |
INTRINSIC |
|
PDB:4DAY|C
|
1207 |
1238 |
1e-6 |
PDB |
|
low complexity region
|
1489 |
1506 |
N/A |
INTRINSIC |
|
low complexity region
|
1572 |
1586 |
N/A |
INTRINSIC |
|
low complexity region
|
1669 |
1682 |
N/A |
INTRINSIC |
|
ERCC4
|
1780 |
1863 |
2.07e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222521
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223401
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 77.6%
- 3x: 65.6%
- 10x: 37.8%
- 20x: 19.1%
|
| Validation Efficiency |
90% (47/52) |
| 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 M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female transmission, hypogonadism, premature death, and increased incidence of tumors. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(39) : Targeted(4) Gene trapped(35)
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
| Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
| Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
| Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
| Dlk1 |
G |
C |
12: 109,421,439 (GRCm39) |
G50A |
probably damaging |
Het |
| Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
| Gigyf2 |
A |
C |
1: 87,306,698 (GRCm39) |
R129S |
probably damaging |
Het |
| Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
| Lrrc7 |
G |
A |
3: 157,869,897 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,817,542 (GRCm39) |
S464P |
probably damaging |
Het |
| Myh1 |
A |
C |
11: 67,099,904 (GRCm39) |
N605H |
possibly damaging |
Het |
| Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,914,074 (GRCm39) |
N1265K |
probably benign |
Het |
| Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
| Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
| Slco1a1 |
A |
G |
6: 141,864,185 (GRCm39) |
|
probably benign |
Het |
| Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
| Synb |
T |
C |
14: 69,747,926 (GRCm39) |
T193A |
probably damaging |
Het |
| Syt11 |
A |
G |
3: 88,655,210 (GRCm39) |
Y364H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,810,104 (GRCm39) |
H3229L |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
Het |
| Zfp1001 |
A |
G |
2: 150,165,745 (GRCm39) |
I42V |
possibly damaging |
Het |
|
| Other mutations in Fancm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Fancm
|
APN |
12 |
65,122,510 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL00489:Fancm
|
APN |
12 |
65,152,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00529:Fancm
|
APN |
12 |
65,177,191 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00898:Fancm
|
APN |
12 |
65,152,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01805:Fancm
|
APN |
12 |
65,160,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01986:Fancm
|
APN |
12 |
65,173,429 (GRCm39) |
nonsense |
probably null |
|
|
IGL02026:Fancm
|
APN |
12 |
65,152,508 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02069:Fancm
|
APN |
12 |
65,122,685 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02103:Fancm
|
APN |
12 |
65,142,558 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02133:Fancm
|
APN |
12 |
65,153,249 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02400:Fancm
|
APN |
12 |
65,160,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02478:Fancm
|
APN |
12 |
65,123,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02479:Fancm
|
APN |
12 |
65,153,259 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02563:Fancm
|
APN |
12 |
65,139,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02606:Fancm
|
APN |
12 |
65,122,913 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02731:Fancm
|
APN |
12 |
65,135,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02809:Fancm
|
APN |
12 |
65,168,441 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02953:Fancm
|
APN |
12 |
65,168,740 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03066:Fancm
|
APN |
12 |
65,171,888 (GRCm39) |
nonsense |
probably null |
|
|
IGL03073:Fancm
|
APN |
12 |
65,148,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Fancypants
|
UTSW |
12 |
65,153,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Mylord
|
UTSW |
12 |
65,163,197 (GRCm39) |
nonsense |
probably null |
|
|
R0041_fancm_712
|
UTSW |
12 |
65,153,217 (GRCm39) |
nonsense |
probably null |
|
|
R7172_Fancm_370
|
UTSW |
12 |
65,152,828 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
BB005:Fancm
|
UTSW |
12 |
65,152,898 (GRCm39) |
missense |
unknown |
|
|
BB015:Fancm
|
UTSW |
12 |
65,152,898 (GRCm39) |
missense |
unknown |
|
|
PIT4131001:Fancm
|
UTSW |
12 |
65,152,196 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0041:Fancm
|
UTSW |
12 |
65,153,217 (GRCm39) |
nonsense |
probably null |
|
|
R0125:Fancm
|
UTSW |
12 |
65,168,730 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0201:Fancm
|
UTSW |
12 |
65,148,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Fancm
|
UTSW |
12 |
65,122,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Fancm
|
UTSW |
12 |
65,152,835 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0557:Fancm
|
UTSW |
12 |
65,165,216 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0617:Fancm
|
UTSW |
12 |
65,144,091 (GRCm39) |
nonsense |
probably null |
|
|
R1201:Fancm
|
UTSW |
12 |
65,153,542 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1353:Fancm
|
UTSW |
12 |
65,134,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Fancm
|
UTSW |
12 |
65,165,125 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1468:Fancm
|
UTSW |
12 |
65,146,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Fancm
|
UTSW |
12 |
65,146,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Fancm
|
UTSW |
12 |
65,168,478 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1530:Fancm
|
UTSW |
12 |
65,139,264 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1559:Fancm
|
UTSW |
12 |
65,140,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1632:Fancm
|
UTSW |
12 |
65,177,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Fancm
|
UTSW |
12 |
65,152,430 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1919:Fancm
|
UTSW |
12 |
65,152,294 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1969:Fancm
|
UTSW |
12 |
65,148,466 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1971:Fancm
|
UTSW |
12 |
65,148,466 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2117:Fancm
|
UTSW |
12 |
65,123,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Fancm
|
UTSW |
12 |
65,160,544 (GRCm39) |
splice site |
probably benign |
|
|
R2909:Fancm
|
UTSW |
12 |
65,171,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3155:Fancm
|
UTSW |
12 |
65,163,195 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3405:Fancm
|
UTSW |
12 |
65,122,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4133:Fancm
|
UTSW |
12 |
65,167,304 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4308:Fancm
|
UTSW |
12 |
65,173,305 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4588:Fancm
|
UTSW |
12 |
65,165,215 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4602:Fancm
|
UTSW |
12 |
65,171,718 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4653:Fancm
|
UTSW |
12 |
65,129,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4702:Fancm
|
UTSW |
12 |
65,168,826 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4719:Fancm
|
UTSW |
12 |
65,168,480 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4885:Fancm
|
UTSW |
12 |
65,149,417 (GRCm39) |
nonsense |
probably null |
|
|
R4896:Fancm
|
UTSW |
12 |
65,122,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Fancm
|
UTSW |
12 |
65,141,645 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4921:Fancm
|
UTSW |
12 |
65,123,915 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4922:Fancm
|
UTSW |
12 |
65,153,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4948:Fancm
|
UTSW |
12 |
65,137,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Fancm
|
UTSW |
12 |
65,152,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5577:Fancm
|
UTSW |
12 |
65,177,185 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5631:Fancm
|
UTSW |
12 |
65,160,617 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5741:Fancm
|
UTSW |
12 |
65,148,389 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6137:Fancm
|
UTSW |
12 |
65,177,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Fancm
|
UTSW |
12 |
65,141,669 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6242:Fancm
|
UTSW |
12 |
65,163,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6242:Fancm
|
UTSW |
12 |
65,163,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6281:Fancm
|
UTSW |
12 |
65,135,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6325:Fancm
|
UTSW |
12 |
65,171,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6434:Fancm
|
UTSW |
12 |
65,123,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Fancm
|
UTSW |
12 |
65,144,262 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6542:Fancm
|
UTSW |
12 |
65,144,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Fancm
|
UTSW |
12 |
65,152,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6878:Fancm
|
UTSW |
12 |
65,163,197 (GRCm39) |
nonsense |
probably null |
|
|
R7171:Fancm
|
UTSW |
12 |
65,148,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7172:Fancm
|
UTSW |
12 |
65,152,828 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7498:Fancm
|
UTSW |
12 |
65,146,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7585:Fancm
|
UTSW |
12 |
65,153,021 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7610:Fancm
|
UTSW |
12 |
65,152,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Fancm
|
UTSW |
12 |
65,153,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7740:Fancm
|
UTSW |
12 |
65,173,321 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7867:Fancm
|
UTSW |
12 |
65,165,173 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7867:Fancm
|
UTSW |
12 |
65,163,240 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7882:Fancm
|
UTSW |
12 |
65,173,568 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7928:Fancm
|
UTSW |
12 |
65,152,898 (GRCm39) |
missense |
unknown |
|
|
R8230:Fancm
|
UTSW |
12 |
65,149,424 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8470:Fancm
|
UTSW |
12 |
65,171,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Fancm
|
UTSW |
12 |
65,173,469 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8695:Fancm
|
UTSW |
12 |
65,171,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Fancm
|
UTSW |
12 |
65,167,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8878:Fancm
|
UTSW |
12 |
65,173,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Fancm
|
UTSW |
12 |
65,122,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9223:Fancm
|
UTSW |
12 |
65,149,358 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9280:Fancm
|
UTSW |
12 |
65,153,612 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9487:Fancm
|
UTSW |
12 |
65,153,388 (GRCm39) |
nonsense |
probably null |
|
|
R9562:Fancm
|
UTSW |
12 |
65,168,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Fancm
|
UTSW |
12 |
65,168,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9575:Fancm
|
UTSW |
12 |
65,152,314 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9664:Fancm
|
UTSW |
12 |
65,137,758 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Fancm
|
UTSW |
12 |
65,141,700 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Protein Function and Prediction |
FANCM is a DNA-dependent ATPase that promotes the dissociation of DNA triplexes by binding to Holliday junctions and replication forks (1-3). FANCM forms a nuclear complex with fanconi anemia proteins (2) that ubiquinates FANCD2 and FANCI in response to DNA replication stress to repair DNA (4;5). FANCM is not critical for DNA double-strand break repair by homologous recombination (3). Further studies found that FANCM controls DNA chain elongation in an ATPase-dependent manner (6). Upon recognition of DNA damage, FANCM promotes replication and recovers stalled forks (6). Cells expressing translocase-defective FANCM show altered global replication dynamics that subsequently degenerate into DNA double-strand breaks, leading to ATM activation, CTBP-interacting protein (CTIP)-dependent end resection and homologous recombination repair (7). Blackford et al. propose that FANCM function to maintain chromosomal integrity by promoting the recovery of stalled replication forks and subsequently preventing tumorigenesis (7).
|
| Expression/Localization |
RT-PCR ELISA detected low to moderate FANCM expression in testis and ovary, lower levels in fetal liver and adult brain, skeletal muscle, kidney, and spleen, and little to no expression in fetal brain and adult spinal cord, heart, lung, liver, and pancreas (8).
|
| Background |
Mutations in FANCM are linked to Fanconi anemia, complementation group M [OMIM: # 614087; (2)]. Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair [summary by (10)].
Fancmtm1.1Htr/tm1.1Htr; MGI:4355560
involves: C57BL/6 * FVB
Mice homozygous for a knock-out allele exhibit reduced female transmission, hypogonadism, premature death, and increased incidence of tumors (9).
|
| References |
1. Gari, K., Decaillet, C., Stasiak, A. Z., Stasiak, A., and Constantinou, A. (2008) The Fanconi Anemia Protein FANCM can Promote Branch Migration of Holliday Junctions and Replication Forks. Mol Cell. 29, 141-148.
2. Meetei, A. R., Medhurst, A. L., Ling, C., Xue, Y., Singh, T. R., Bier, P., Steltenpool, J., Stone, S., Dokal, I., Mathew, C. G., Hoatlin, M., Joenje, H., de Winter, J. P., and Wang, W. (2005) A Human Ortholog of Archaeal DNA Repair Protein Hef is Defective in Fanconi Anemia Complementation Group M. Nat Genet. 37, 958-963.
3. Mosedale, G., Niedzwiedz, W., Alpi, A., Perrina, F., Pereira-Leal, J. B., Johnson, M., Langevin, F., Pace, P., and Patel, K. J. (2005) The Vertebrate Hef Ortholog is a Component of the Fanconi Anemia Tumor-Suppressor Pathway. Nat Struct Mol Biol. 12, 763-771.
4. Garcia-Higuera, I., Taniguchi, T., Ganesan, S., Meyn, M. S., Timmers, C., Hejna, J., Grompe, M., and D'Andrea, A. D. (2001) Interaction of the Fanconi Anemia Proteins and BRCA1 in a Common Pathway. Mol Cell. 7, 249-262.
5. Xue, Y., Li, Y., Guo, R., Ling, C., and Wang, W. (2008) FANCM of the Fanconi Anemia Core Complex is Required for both Monoubiquitination and DNA Repair. Hum Mol Genet. 17, 1641-1652.
7. Blackford, A. N., Schwab, R. A., Nieminuszczy, J., Deans, A. J., West, S. C., and Niedzwiedz, W. (2012) The DNA Translocase Activity of FANCM Protects Stalled Replication Forks. Hum Mol Genet. 21, 2005-2016.
8. Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., and Ohara, O. (2000) Prediction of the Coding Sequences of Unidentified Human Genes. XVIII. the Complete Sequences of 100 New cDNA Clones from Brain which Code for Large Proteins in Vitro. DNA Res. 7, 273-281.
9. Bakker, S. T., van de Vrugt, H. J., Rooimans, M. A., Oostra, A. B., Steltenpool, J., Delzenne-Goette, E., van der Wal, A., van der Valk, M., Joenje, H., te Riele, H., and de Winter, J. P. (2009) Fancm-Deficient Mice Reveal Unique Features of Fanconi Anemia Complementation Group M. Hum Mol Genet. 18, 3484-3495. |
| Posted On |
2012-12-21 |
| Science Writer |
Anne Murray |
Incidental Mutation