Incidental Mutation 'IGL01344:Chaf1a'
| ID |
74995 |
| 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 # |
IGL01344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56347416-56375026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56371104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 663
(V663E)
|
| 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 |
probably damaging
Transcript: ENSMUST00000002914
AA Change: V663E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835
AA Change: V663E
| 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: ENSMUST00000134441
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,923,139 (GRCm39) |
K237R |
possibly damaging |
Het |
| Antxrl |
A |
C |
14: 33,797,554 (GRCm39) |
M510L |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,214,588 (GRCm39) |
D417G |
probably benign |
Het |
| C3 |
T |
G |
17: 57,531,880 (GRCm39) |
N250T |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,575,629 (GRCm39) |
I1073K |
probably benign |
Het |
| Ccin |
A |
T |
4: 43,984,069 (GRCm39) |
N159Y |
probably damaging |
Het |
| Cep76 |
T |
C |
18: 67,756,467 (GRCm39) |
T455A |
possibly damaging |
Het |
| Chit1 |
T |
C |
1: 134,079,052 (GRCm39) |
F454S |
probably damaging |
Het |
| Cimip2a |
A |
T |
2: 25,110,345 (GRCm39) |
I86F |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,642,360 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
G |
T |
2: 172,936,527 (GRCm39) |
A615E |
possibly damaging |
Het |
| Edaradd |
T |
C |
13: 12,493,371 (GRCm39) |
D107G |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,330,688 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,136,169 (GRCm39) |
|
probably null |
Het |
| Fahd2a |
T |
C |
2: 127,283,987 (GRCm39) |
K18E |
probably benign |
Het |
| Fbxl20 |
A |
T |
11: 97,990,926 (GRCm39) |
C147* |
probably null |
Het |
| Gsap |
G |
T |
5: 21,447,881 (GRCm39) |
|
probably null |
Het |
| Gtse1 |
A |
T |
15: 85,746,267 (GRCm39) |
|
probably null |
Het |
| Kcp |
A |
T |
6: 29,498,950 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,742,019 (GRCm39) |
D687G |
probably benign |
Het |
| Mcpt8 |
T |
A |
14: 56,321,402 (GRCm39) |
I21F |
probably damaging |
Het |
| Met |
C |
A |
6: 17,547,031 (GRCm39) |
S888Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,503 (GRCm39) |
T663A |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,427,628 (GRCm39) |
T130A |
probably benign |
Het |
| Otud7b |
T |
A |
3: 96,058,297 (GRCm39) |
|
probably benign |
Het |
| Preb |
C |
T |
5: 31,113,388 (GRCm39) |
V349M |
probably damaging |
Het |
| Prmt1 |
G |
T |
7: 44,627,059 (GRCm39) |
|
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,393,737 (GRCm39) |
D1209V |
probably damaging |
Het |
| Rigi |
G |
A |
4: 40,208,883 (GRCm39) |
T698I |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,080,958 (GRCm39) |
N925S |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,147,519 (GRCm39) |
M414K |
possibly damaging |
Het |
| Skor1 |
A |
T |
9: 63,049,560 (GRCm39) |
S787R |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,940,856 (GRCm39) |
I288N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,790,059 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
C |
T |
1: 44,022,422 (GRCm39) |
T940I |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,972,739 (GRCm39) |
I278N |
probably damaging |
Het |
| Umodl1 |
G |
A |
17: 31,215,238 (GRCm39) |
V1021I |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,236,582 (GRCm39) |
S1059P |
possibly 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 |
|
IGL01318:Chaf1a
|
APN |
17 |
56,366,336 (GRCm39) |
splice site |
probably benign |
|
|
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