Incidental Mutation 'IGL01318:Chaf1a'
| ID |
73955 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chaf1a
|
| Ensembl Gene |
ENSMUSG00000002835 |
| Gene Name |
chromatin assembly factor 1, subunit A |
| Synonyms |
CAF-1, p150 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01318
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56347416-56375026 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 56366336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002914]
|
| AlphaFold |
Q9QWF0 |
| PDB Structure |
HP1 chromo shadow domain in complex with PXVXL motif of CAF-1 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002914
|
| SMART Domains |
Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1-p150_N
|
1 |
210 |
3.8e-59 |
PFAM |
|
low complexity region
|
263 |
286 |
N/A |
INTRINSIC |
|
Pfam:CAF-1_p150
|
299 |
458 |
1e-49 |
PFAM |
|
low complexity region
|
466 |
481 |
N/A |
INTRINSIC |
|
Pfam:CAF1A
|
537 |
611 |
1.1e-25 |
PFAM |
|
Pfam:CAF1-p150_C2
|
644 |
908 |
1.6e-121 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg10b |
T |
C |
15: 90,112,592 (GRCm39) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,608,554 (GRCm39) |
|
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,297,296 (GRCm39) |
D585G |
probably null |
Het |
| Ddhd1 |
A |
G |
14: 45,854,008 (GRCm39) |
S443P |
probably damaging |
Het |
| Dlk2 |
A |
G |
17: 46,613,390 (GRCm39) |
E215G |
probably damaging |
Het |
| Efhd2 |
T |
C |
4: 141,587,176 (GRCm39) |
N202S |
probably benign |
Het |
| Gkap1 |
A |
T |
13: 58,384,853 (GRCm39) |
I308K |
probably damaging |
Het |
| Gm9848 |
T |
A |
13: 113,244,774 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
G |
A |
1: 150,594,991 (GRCm39) |
T1826I |
probably damaging |
Het |
| Htr5a |
T |
C |
5: 28,047,742 (GRCm39) |
V99A |
probably benign |
Het |
| Inha |
T |
G |
1: 75,486,572 (GRCm39) |
F289C |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,945,294 (GRCm39) |
V519A |
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,364,390 (GRCm39) |
|
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,195,747 (GRCm39) |
V292A |
possibly damaging |
Het |
| Magea13 |
T |
A |
X: 57,964,829 (GRCm39) |
I196N |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,647,089 (GRCm39) |
|
probably benign |
Het |
| Mfap2 |
G |
T |
4: 140,742,856 (GRCm39) |
A175S |
possibly damaging |
Het |
| Milr1 |
G |
A |
11: 106,656,071 (GRCm39) |
A114T |
possibly damaging |
Het |
| Mogs |
G |
T |
6: 83,095,558 (GRCm39) |
V792F |
probably damaging |
Het |
| Nt5dc3 |
T |
A |
10: 86,661,089 (GRCm39) |
M418K |
possibly damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,490 (GRCm39) |
L61P |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,832,054 (GRCm39) |
E183G |
probably benign |
Het |
| Or8h8 |
A |
T |
2: 86,753,293 (GRCm39) |
N194K |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,061,190 (GRCm39) |
W756* |
probably null |
Het |
| Pgam5 |
A |
G |
5: 110,413,391 (GRCm39) |
Y235H |
probably damaging |
Het |
| Pgm5 |
G |
T |
19: 24,793,842 (GRCm39) |
A274E |
probably damaging |
Het |
| Prex1 |
C |
A |
2: 166,411,260 (GRCm39) |
|
probably benign |
Het |
| Prps1l1 |
A |
T |
12: 35,035,377 (GRCm39) |
N164I |
probably benign |
Het |
| Ralbp1 |
C |
A |
17: 66,171,277 (GRCm39) |
R232L |
probably damaging |
Het |
| Rnaseh2a |
C |
T |
8: 85,691,752 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,529,200 (GRCm39) |
H1819L |
possibly damaging |
Het |
| Stom |
T |
A |
2: 35,226,889 (GRCm39) |
I15F |
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,625,067 (GRCm39) |
S946A |
possibly damaging |
Het |
| Tph1 |
T |
G |
7: 46,314,662 (GRCm39) |
T22P |
probably damaging |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,904 (GRCm39) |
I212T |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,546,550 (GRCm39) |
I3442T |
probably benign |
Het |
| Vinac1 |
C |
A |
2: 128,880,622 (GRCm39) |
V435L |
probably benign |
Het |
| Vmn2r113 |
A |
G |
17: 23,177,309 (GRCm39) |
I698V |
probably benign |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,774 (GRCm39) |
I240V |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,125,585 (GRCm39) |
T432A |
probably damaging |
Het |
|
| Other mutations in Chaf1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Chaf1a
|
APN |
17 |
56,370,336 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01344:Chaf1a
|
APN |
17 |
56,371,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02740:Chaf1a
|
APN |
17 |
56,374,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Chaf1a
|
APN |
17 |
56,370,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Chaf1a
|
UTSW |
17 |
56,354,384 (GRCm39) |
missense |
unknown |
|
|
R0318:Chaf1a
|
UTSW |
17 |
56,369,227 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0945:Chaf1a
|
UTSW |
17 |
56,374,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Chaf1a
|
UTSW |
17 |
56,371,032 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1520:Chaf1a
|
UTSW |
17 |
56,354,302 (GRCm39) |
missense |
unknown |
|
|
R1641:Chaf1a
|
UTSW |
17 |
56,354,380 (GRCm39) |
missense |
unknown |
|
|
R1669:Chaf1a
|
UTSW |
17 |
56,370,339 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1955:Chaf1a
|
UTSW |
17 |
56,354,540 (GRCm39) |
missense |
unknown |
|
|
R2139:Chaf1a
|
UTSW |
17 |
56,372,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2879:Chaf1a
|
UTSW |
17 |
56,351,114 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4258:Chaf1a
|
UTSW |
17 |
56,363,474 (GRCm39) |
missense |
unknown |
|
|
R4303:Chaf1a
|
UTSW |
17 |
56,351,068 (GRCm39) |
missense |
unknown |
|
|
R4577:Chaf1a
|
UTSW |
17 |
56,372,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5254:Chaf1a
|
UTSW |
17 |
56,369,606 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5260:Chaf1a
|
UTSW |
17 |
56,372,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Chaf1a
|
UTSW |
17 |
56,371,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Chaf1a
|
UTSW |
17 |
56,370,404 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6799:Chaf1a
|
UTSW |
17 |
56,354,059 (GRCm39) |
missense |
unknown |
|
|
R7327:Chaf1a
|
UTSW |
17 |
56,369,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7445:Chaf1a
|
UTSW |
17 |
56,369,170 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7565:Chaf1a
|
UTSW |
17 |
56,371,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7782:Chaf1a
|
UTSW |
17 |
56,369,291 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7864:Chaf1a
|
UTSW |
17 |
56,354,339 (GRCm39) |
missense |
unknown |
|
|
R8313:Chaf1a
|
UTSW |
17 |
56,351,109 (GRCm39) |
missense |
unknown |
|
|
R9035:Chaf1a
|
UTSW |
17 |
56,371,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9477:Chaf1a
|
UTSW |
17 |
56,369,244 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation