Incidental Mutation 'R4167:Kat14'
| ID |
320614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kat14
|
| Ensembl Gene |
ENSMUSG00000027425 |
| Gene Name |
lysine acetyltransferase 14 |
| Synonyms |
Csrp2bp, 2510008M08Rik, ATAC2, D2Ertd473e, D2Wsu131e |
| MMRRC Submission |
041008-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
144210952-144249595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144236030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 254
(E254G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028911]
[ENSMUST00000147747]
|
| AlphaFold |
Q8CID0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028911
AA Change: E465G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: E465G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
334 |
N/A |
INTRINSIC |
|
Pfam:Acetyltransf_10
|
640 |
748 |
7e-12 |
PFAM |
|
Pfam:Acetyltransf_7
|
670 |
750 |
5.8e-12 |
PFAM |
|
Pfam:Acetyltransf_1
|
675 |
749 |
7.3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143318
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147747
AA Change: E254G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425
AA Change: E254G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
123 |
N/A |
INTRINSIC |
|
Pfam:Acetyltransf_10
|
428 |
537 |
6.3e-12 |
PFAM |
|
Pfam:Acetyltransf_7
|
458 |
539 |
5.7e-12 |
PFAM |
|
Pfam:Acetyltransf_1
|
464 |
538 |
3.1e-12 |
PFAM |
|
Pfam:FR47
|
479 |
544 |
2.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156410
|
| Meta Mutation Damage Score |
0.4038 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
94% (31/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, decreased size, increased apoptosis, and disrupted cell cycling. Mice heterozygous for one targeted allele exhibit corneal opacity. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(54) : Targeted, other(1) Gene trapped(53) |
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
| Dcp2 |
T |
A |
18: 44,529,034 (GRCm39) |
Y50N |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fam78b |
T |
C |
1: 166,829,301 (GRCm39) |
V51A |
possibly damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
G |
T |
9: 106,034,961 (GRCm39) |
A35E |
probably benign |
Het |
| Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
| Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp12 |
T |
C |
15: 39,748,409 (GRCm39) |
T70A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mindy4 |
G |
A |
6: 55,201,331 (GRCm39) |
G339S |
possibly damaging |
Het |
| Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,252,415 (GRCm39) |
V275I |
probably benign |
Het |
| Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,922,782 (GRCm39) |
Q349L |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5v1b |
T |
C |
17: 37,840,897 (GRCm39) |
S10P |
possibly damaging |
Het |
| Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
| Plcd3 |
A |
T |
11: 102,969,290 (GRCm39) |
C226S |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
| Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
|
| Other mutations in Kat14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Kat14
|
APN |
2 |
144,236,175 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01361:Kat14
|
APN |
2 |
144,248,540 (GRCm39) |
splice site |
probably null |
|
|
IGL01958:Kat14
|
APN |
2 |
144,236,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02499:Kat14
|
APN |
2 |
144,235,751 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02625:Kat14
|
APN |
2 |
144,244,365 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02814:Kat14
|
APN |
2 |
144,244,383 (GRCm39) |
missense |
probably benign |
|
|
IGL02883:Kat14
|
APN |
2 |
144,235,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03114:Kat14
|
APN |
2 |
144,217,885 (GRCm39) |
critical splice donor site |
probably null |
|
|
A5278:Kat14
|
UTSW |
2 |
144,235,227 (GRCm39) |
nonsense |
probably null |
|
|
R1446:Kat14
|
UTSW |
2 |
144,215,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:Kat14
|
UTSW |
2 |
144,215,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1589:Kat14
|
UTSW |
2 |
144,236,020 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2071:Kat14
|
UTSW |
2 |
144,231,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3911:Kat14
|
UTSW |
2 |
144,245,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3951:Kat14
|
UTSW |
2 |
144,249,249 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4624:Kat14
|
UTSW |
2 |
144,246,140 (GRCm39) |
intron |
probably benign |
|
|
R4628:Kat14
|
UTSW |
2 |
144,246,140 (GRCm39) |
intron |
probably benign |
|
|
R4629:Kat14
|
UTSW |
2 |
144,246,140 (GRCm39) |
intron |
probably benign |
|
|
R4944:Kat14
|
UTSW |
2 |
144,217,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5401:Kat14
|
UTSW |
2 |
144,231,180 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5429:Kat14
|
UTSW |
2 |
144,235,243 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7165:Kat14
|
UTSW |
2 |
144,235,918 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7453:Kat14
|
UTSW |
2 |
144,222,654 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7738:Kat14
|
UTSW |
2 |
144,236,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Kat14
|
UTSW |
2 |
144,215,742 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9260:Kat14
|
UTSW |
2 |
144,235,441 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9450:Kat14
|
UTSW |
2 |
144,242,739 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9457:Kat14
|
UTSW |
2 |
144,215,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9480:Kat14
|
UTSW |
2 |
144,215,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Kat14
|
UTSW |
2 |
144,235,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Kat14
|
UTSW |
2 |
144,215,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAAGAAGGTCCGAGCTCC -3'
(R):5'- GGAAGCTCCTCCATCTTTGG -3'
Sequencing Primer
(F):5'- CGAGCTCCGGAACAGATAAAACAG -3'
(R):5'- TGGCTCCATAAATCCCATCG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation