Incidental Mutation 'R5683:Chaf1b'
| ID |
443203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chaf1b
|
| Ensembl Gene |
ENSMUSG00000022945 |
| Gene Name |
chromatin assembly factor 1, subunit B |
| Synonyms |
MPHOSPH7, CAF1, CAF1A, CAF1P60, CAF-IP60, CAF-1 subunit B, CAF-I 60 kDa subunit, 2600017H24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R5683 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
93680801-93703003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93684030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 94
(K94E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023666]
[ENSMUST00000117099]
[ENSMUST00000120586]
[ENSMUST00000142316]
|
| AlphaFold |
Q9D0N7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023666
AA Change: K94E
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023666
Gene: ENSMUSG00000022945
AA Change: K94E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
3 |
45 |
4.95e0 |
SMART |
|
WD40
|
55 |
94 |
4.44e-6 |
SMART |
|
WD40
|
118 |
157 |
3.78e-9 |
SMART |
|
WD40
|
160 |
199 |
5.86e-6 |
SMART |
|
Blast:WD40
|
219 |
258 |
5e-10 |
BLAST |
|
WD40
|
274 |
338 |
2.84e2 |
SMART |
|
WD40
|
344 |
381 |
5.13e0 |
SMART |
|
Pfam:CAF-1_p60_C
|
388 |
564 |
2e-75 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117099
AA Change: K94E
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113684
Gene: ENSMUSG00000022945
AA Change: K94E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
3 |
45 |
4.95e0 |
SMART |
|
WD40
|
55 |
94 |
4.44e-6 |
SMART |
|
WD40
|
118 |
157 |
3.78e-9 |
SMART |
|
WD40
|
160 |
199 |
5.86e-6 |
SMART |
|
Blast:WD40
|
219 |
258 |
5e-10 |
BLAST |
|
WD40
|
274 |
338 |
2.84e2 |
SMART |
|
WD40
|
344 |
381 |
5.13e0 |
SMART |
|
Pfam:CAF-1_p60_C
|
388 |
561 |
6.3e-69 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120586
AA Change: K94E
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113420
Gene: ENSMUSG00000022945
AA Change: K94E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
3 |
45 |
4.95e0 |
SMART |
|
WD40
|
55 |
94 |
4.44e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124313
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142316
|
| SMART Domains |
Protein: ENSMUSP00000121034
Gene: ENSMUSG00000022945
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD40
|
8 |
45 |
3.5e-4 |
PFAM |
|
Blast:WD40
|
55 |
79 |
2e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232065
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
C |
11: 72,093,266 (GRCm39) |
M22R |
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,961,482 (GRCm39) |
E397G |
probably damaging |
Het |
| Actrt3 |
A |
T |
3: 30,652,427 (GRCm39) |
D222E |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,750,018 (GRCm39) |
S790T |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,566,369 (GRCm39) |
D1113E |
probably benign |
Het |
| Arl2 |
C |
A |
19: 6,184,794 (GRCm39) |
R153L |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
| Ccdc138 |
C |
A |
10: 58,376,641 (GRCm39) |
Q425K |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,263,179 (GRCm39) |
K143N |
probably benign |
Het |
| Cd200r4 |
T |
A |
16: 44,653,311 (GRCm39) |
I73K |
probably benign |
Het |
| Cmtm2a |
T |
C |
8: 105,019,676 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Fnbp4 |
C |
A |
2: 90,583,206 (GRCm39) |
N277K |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Itsn1 |
T |
C |
16: 91,702,268 (GRCm39) |
Y37H |
probably benign |
Het |
| Kdm8 |
A |
G |
7: 125,054,345 (GRCm39) |
Y16C |
possibly damaging |
Het |
| Kif1b |
A |
T |
4: 149,306,718 (GRCm39) |
Y881N |
probably damaging |
Het |
| Lhcgr |
C |
T |
17: 89,079,447 (GRCm39) |
V80I |
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 103,009,236 (GRCm39) |
L1082F |
probably damaging |
Het |
| Met |
A |
G |
6: 17,571,743 (GRCm39) |
Y1354C |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,536,007 (GRCm39) |
L2859P |
possibly damaging |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,052,697 (GRCm39) |
I872T |
probably damaging |
Het |
| Npnt |
A |
T |
3: 132,612,601 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
G |
A |
13: 55,393,961 (GRCm39) |
V521I |
probably benign |
Het |
| Or2n1e |
G |
A |
17: 38,586,437 (GRCm39) |
M258I |
possibly damaging |
Het |
| Pak6 |
T |
A |
2: 118,524,393 (GRCm39) |
Y469N |
probably damaging |
Het |
| Parp4 |
C |
T |
14: 56,884,886 (GRCm39) |
R1322* |
probably null |
Het |
| Pax6 |
T |
C |
2: 105,516,252 (GRCm39) |
Y177H |
probably benign |
Het |
| Pcdhb4 |
A |
T |
18: 37,442,042 (GRCm39) |
T451S |
probably benign |
Het |
| Pcdhgb5 |
A |
T |
18: 37,864,907 (GRCm39) |
D234V |
probably damaging |
Het |
| Pramel11 |
A |
G |
4: 143,622,423 (GRCm39) |
S311P |
probably damaging |
Het |
| Ralb |
G |
A |
1: 119,403,686 (GRCm39) |
A147V |
possibly damaging |
Het |
| Rgs11 |
A |
G |
17: 26,424,155 (GRCm39) |
K196E |
probably benign |
Het |
| Rnft1 |
A |
T |
11: 86,382,616 (GRCm39) |
T280S |
probably benign |
Het |
| Slco4c1 |
G |
T |
1: 96,795,559 (GRCm39) |
H166Q |
probably damaging |
Het |
| Sycp3 |
T |
C |
10: 88,308,797 (GRCm39) |
S248P |
probably damaging |
Het |
| Tab2 |
A |
G |
10: 7,794,876 (GRCm39) |
|
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,980,875 (GRCm39) |
M224T |
probably damaging |
Het |
| Topbp1 |
A |
T |
9: 103,190,003 (GRCm39) |
E193V |
possibly damaging |
Het |
| Trim36 |
T |
C |
18: 46,302,359 (GRCm39) |
Y551C |
probably damaging |
Het |
| Ttc17 |
T |
C |
2: 94,192,866 (GRCm39) |
Y628C |
probably damaging |
Het |
| Vmn1r180 |
A |
C |
7: 23,652,635 (GRCm39) |
D266A |
possibly damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,260,981 (GRCm39) |
K481* |
probably null |
Het |
| Zc3hav1 |
A |
G |
6: 38,284,172 (GRCm39) |
V981A |
probably damaging |
Het |
|
| Other mutations in Chaf1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00562:Chaf1b
|
APN |
16 |
93,697,079 (GRCm39) |
unclassified |
probably benign |
|
|
R0090:Chaf1b
|
UTSW |
16 |
93,684,012 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0309:Chaf1b
|
UTSW |
16 |
93,681,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0690:Chaf1b
|
UTSW |
16 |
93,696,905 (GRCm39) |
splice site |
probably benign |
|
|
R1494:Chaf1b
|
UTSW |
16 |
93,684,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Chaf1b
|
UTSW |
16 |
93,698,118 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1595:Chaf1b
|
UTSW |
16 |
93,701,987 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1654:Chaf1b
|
UTSW |
16 |
93,691,791 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2057:Chaf1b
|
UTSW |
16 |
93,691,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Chaf1b
|
UTSW |
16 |
93,688,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2406:Chaf1b
|
UTSW |
16 |
93,697,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2655:Chaf1b
|
UTSW |
16 |
93,688,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4522:Chaf1b
|
UTSW |
16 |
93,698,183 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4605:Chaf1b
|
UTSW |
16 |
93,684,977 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4686:Chaf1b
|
UTSW |
16 |
93,681,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4784:Chaf1b
|
UTSW |
16 |
93,681,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4862:Chaf1b
|
UTSW |
16 |
93,684,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5603:Chaf1b
|
UTSW |
16 |
93,689,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6763:Chaf1b
|
UTSW |
16 |
93,688,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6940:Chaf1b
|
UTSW |
16 |
93,702,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7401:Chaf1b
|
UTSW |
16 |
93,681,268 (GRCm39) |
start gained |
probably benign |
|
|
R7862:Chaf1b
|
UTSW |
16 |
93,684,983 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7980:Chaf1b
|
UTSW |
16 |
93,681,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8083:Chaf1b
|
UTSW |
16 |
93,691,630 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8841:Chaf1b
|
UTSW |
16 |
93,701,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9387:Chaf1b
|
UTSW |
16 |
93,689,629 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9467:Chaf1b
|
UTSW |
16 |
93,681,394 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTGTACAAATTCTTCGTG -3'
(R):5'- GGCTGGAACTTAATCACGGTTC -3'
Sequencing Primer
(F):5'- TCTAGGATCTCGTGTAGCCCAG -3'
(R):5'- GCTCCTCCAGAAAAGTCAGGTTTTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation