Incidental Mutation 'IGL01143:Chaf1a'
| ID |
53124 |
| 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 # |
IGL01143
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56347416-56375026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56370336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 600
(D600E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002914]
[ENSMUST00000019722]
|
| AlphaFold |
Q9QWF0 |
| PDB Structure |
HP1 chromo shadow domain in complex with PXVXL motif of CAF-1 [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002914
AA Change: D600E
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835
AA Change: D600E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019722
|
| SMART Domains |
Protein: ENSMUSP00000019722
Gene: ENSMUSG00000019578
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
61 |
N/A |
INTRINSIC |
|
Pfam:PUB
|
168 |
255 |
1.6e-27 |
PFAM |
|
UBX
|
329 |
410 |
1.03e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151943
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
T |
10: 85,490,335 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
A |
G |
3: 151,205,866 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
C |
13: 81,567,470 (GRCm39) |
D5234E |
probably benign |
Het |
| Bmp7 |
G |
T |
2: 172,721,275 (GRCm39) |
H267N |
probably benign |
Het |
| Ccdc113 |
T |
C |
8: 96,260,888 (GRCm39) |
V30A |
probably damaging |
Het |
| Ccdc185 |
A |
T |
1: 182,575,417 (GRCm39) |
L424Q |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,937,445 (GRCm39) |
D58E |
probably damaging |
Het |
| Ces1f |
C |
T |
8: 93,998,458 (GRCm39) |
|
probably null |
Het |
| Cndp2 |
A |
G |
18: 84,695,442 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,976,475 (GRCm39) |
D2727V |
probably damaging |
Het |
| Dync1li2 |
T |
C |
8: 105,156,085 (GRCm39) |
D252G |
probably damaging |
Het |
| Ephx2 |
C |
T |
14: 66,326,971 (GRCm39) |
R408Q |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,488,569 (GRCm39) |
T3427K |
possibly damaging |
Het |
| Gal3st4 |
A |
G |
5: 138,269,664 (GRCm39) |
M1T |
probably null |
Het |
| Gm5828 |
T |
C |
1: 16,840,172 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7694 |
C |
T |
1: 170,130,394 (GRCm39) |
M1I |
probably null |
Het |
| Gpatch1 |
A |
G |
7: 35,000,997 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
G |
T |
16: 87,754,488 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
G |
5: 134,225,394 (GRCm39) |
T161A |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,706,533 (GRCm39) |
I790V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,274,870 (GRCm39) |
V609I |
probably benign |
Het |
| Kcnq4 |
T |
G |
4: 120,555,820 (GRCm39) |
D585A |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,684 (GRCm39) |
Y464C |
probably damaging |
Het |
| Lpar6 |
G |
A |
14: 73,476,077 (GRCm39) |
D13N |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,176,761 (GRCm39) |
Y132H |
probably damaging |
Het |
| Nphp1 |
C |
T |
2: 127,622,056 (GRCm39) |
V24I |
probably benign |
Het |
| Or5b104 |
A |
T |
19: 13,072,476 (GRCm39) |
F179I |
probably damaging |
Het |
| Or5w17 |
T |
C |
2: 87,584,278 (GRCm39) |
N20D |
probably benign |
Het |
| Or8b1c |
G |
T |
9: 38,384,338 (GRCm39) |
M98I |
possibly damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,575,690 (GRCm39) |
W23R |
probably benign |
Het |
| Plekhg3 |
T |
C |
12: 76,611,756 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,808,752 (GRCm39) |
K396R |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,182,159 (GRCm39) |
D736G |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,846,614 (GRCm39) |
D46G |
probably benign |
Het |
| Spata31 |
T |
G |
13: 65,068,630 (GRCm39) |
Y259* |
probably null |
Het |
| Synj1 |
T |
C |
16: 90,748,864 (GRCm39) |
E1064G |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,785,085 (GRCm39) |
T81A |
probably benign |
Het |
| Ttc23l |
A |
G |
15: 10,530,775 (GRCm39) |
I279T |
probably damaging |
Het |
| Ttc39a |
T |
C |
4: 109,300,010 (GRCm39) |
|
probably null |
Het |
| Vmn2r108 |
C |
A |
17: 20,682,727 (GRCm39) |
A826S |
possibly damaging |
Het |
| Zyg11b |
A |
T |
4: 108,102,191 (GRCm39) |
V510E |
possibly damaging |
Het |
|
| Other mutations in Chaf1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Chaf1a
|
APN |
17 |
56,366,336 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-06-21 |
Incidental Mutation