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 |