Incidental Mutation 'R0945:Chaf1a'
| ID |
82080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chaf1a
|
| Ensembl Gene |
ENSMUSG00000002835 |
| Gene Name |
chromatin assembly factor 1, subunit A |
| Synonyms |
CAF-1, p150 |
| MMRRC Submission |
039084-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0945 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56347416-56375026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56374441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 876
(D876G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002914]
[ENSMUST00000019722]
[ENSMUST00000139371]
|
| 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: D876G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835
AA Change: D876G
| 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 |
probably benign
Transcript: ENSMUST00000139371
|
| SMART Domains |
Protein: ENSMUSP00000120423
Gene: ENSMUSG00000019578
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
8 |
N/A |
INTRINSIC |
|
Pfam:PUB
|
113 |
154 |
6.8e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153947
|
| Meta Mutation Damage Score |
0.3643 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.1%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
A |
G |
16: 35,110,481 (GRCm39) |
M883V |
probably benign |
Het |
| Allc |
A |
G |
12: 28,609,962 (GRCm39) |
S212P |
probably benign |
Het |
| Anxa10 |
A |
G |
8: 62,513,279 (GRCm39) |
|
probably benign |
Het |
| Apoa2 |
A |
G |
1: 171,053,268 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
T |
C |
2: 166,668,889 (GRCm39) |
|
probably benign |
Het |
| Arhgap30 |
G |
T |
1: 171,230,854 (GRCm39) |
V204L |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,596,223 (GRCm39) |
V852E |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,481,269 (GRCm39) |
Y339N |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,630 (GRCm39) |
K197E |
possibly damaging |
Het |
| Cnr2 |
A |
T |
4: 135,644,632 (GRCm39) |
M237L |
probably benign |
Het |
| Dnm2 |
C |
A |
9: 21,416,956 (GRCm39) |
Q830K |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,310,500 (GRCm39) |
L1615P |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,515,497 (GRCm39) |
D129G |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,276,799 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,723,803 (GRCm39) |
Y1854C |
probably benign |
Het |
| Il15ra |
T |
A |
2: 11,723,138 (GRCm39) |
V54E |
probably damaging |
Het |
| Il4i1 |
G |
A |
7: 44,489,128 (GRCm39) |
V306M |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,837,921 (GRCm39) |
D211G |
probably benign |
Het |
| Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
| Myrfl |
C |
T |
10: 116,639,299 (GRCm39) |
|
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,869,333 (GRCm39) |
I203V |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or14j9 |
G |
A |
17: 37,874,278 (GRCm39) |
T308I |
probably benign |
Het |
| Or4a15 |
T |
C |
2: 89,193,599 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or52u1 |
T |
A |
7: 104,237,879 (GRCm39) |
N289K |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,675,296 (GRCm39) |
L345P |
probably damaging |
Het |
| Pex3 |
C |
A |
10: 13,418,420 (GRCm39) |
A79S |
probably benign |
Het |
| Pla2r1 |
A |
C |
2: 60,288,754 (GRCm39) |
L626R |
possibly damaging |
Het |
| Plcb3 |
A |
G |
19: 6,932,246 (GRCm39) |
S1107P |
probably damaging |
Het |
| Ppcdc |
C |
T |
9: 57,327,441 (GRCm39) |
|
probably null |
Het |
| Rbak |
A |
T |
5: 143,159,334 (GRCm39) |
F573Y |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,436,052 (GRCm39) |
|
probably null |
Het |
| Rpl13 |
C |
T |
8: 123,831,913 (GRCm39) |
A203V |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,913,668 (GRCm39) |
H1020R |
possibly damaging |
Het |
| Slf1 |
A |
G |
13: 77,251,590 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,757,333 (GRCm39) |
L905S |
possibly damaging |
Het |
| Tmem59 |
T |
A |
4: 107,044,922 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uri1 |
A |
T |
7: 37,669,103 (GRCm39) |
D127E |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,269,476 (GRCm39) |
E489G |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
| Zfp941 |
C |
T |
7: 140,391,577 (GRCm39) |
R594H |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 725,983 (GRCm39) |
D594G |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTTGCAGCAATAGGTCCCAGTG -3'
(R):5'- ATCTCCCTCAGCAGCTCTACAAGG -3'
Sequencing Primer
(F):5'- CCAGTGTAGACAGTTTCACCAGG -3'
(R):5'- CAGCAGCTCTACAAGGCTGAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation