Incidental Mutation 'R7187:Cecr2'
| ID |
559357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cecr2
|
| Ensembl Gene |
ENSMUSG00000071226 |
| Gene Name |
CECR2, histone acetyl-lysine reader |
| Synonyms |
cat eye syndrome chromosome region, candidate 2, Gtl4, 2610101O16Rik, 2810409N01Rik |
| MMRRC Submission |
045377-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7187 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
120643330-120748151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120733647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 545
(S545T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
[ENSMUST00000129803]
|
| AlphaFold |
E9Q2Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100993
AA Change: S545T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: S545T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
|
Pfam:WHIM3
|
244 |
284 |
5.2e-11 |
PFAM |
|
coiled coil region
|
322 |
382 |
N/A |
INTRINSIC |
|
BROMO
|
416 |
520 |
5.09e-32 |
SMART |
|
low complexity region
|
536 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
855 |
N/A |
INTRINSIC |
|
low complexity region
|
890 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
1173 |
1187 |
N/A |
INTRINSIC |
|
low complexity region
|
1202 |
1223 |
N/A |
INTRINSIC |
|
low complexity region
|
1355 |
1366 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112686
AA Change: S545T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: S545T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
|
coiled coil region
|
322 |
382 |
N/A |
INTRINSIC |
|
BROMO
|
416 |
520 |
5.09e-32 |
SMART |
|
low complexity region
|
536 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
768 |
N/A |
INTRINSIC |
|
low complexity region
|
811 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
862 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
1145 |
1159 |
N/A |
INTRINSIC |
|
low complexity region
|
1174 |
1195 |
N/A |
INTRINSIC |
|
low complexity region
|
1327 |
1338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129803
|
| SMART Domains |
Protein: ENSMUSP00000118542
Gene: ENSMUSG00000071226
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
90 |
150 |
N/A |
INTRINSIC |
|
Pfam:Bromodomain
|
191 |
234 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143563
|
| SMART Domains |
Protein: ENSMUSP00000116993
Gene: ENSMUSG00000071226
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutant mice display varied penetrance of exencephaly depending on genetic background. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,327,733 (GRCm39) |
Y716C |
probably damaging |
Het |
| Abcc1 |
A |
G |
16: 14,284,861 (GRCm39) |
I1237V |
probably benign |
Het |
| Adam34 |
C |
T |
8: 44,105,565 (GRCm39) |
A27T |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,257,478 (GRCm39) |
S415G |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,711,532 (GRCm39) |
Y390H |
probably benign |
Het |
| Arap2 |
A |
C |
5: 62,826,396 (GRCm39) |
M1056R |
probably damaging |
Het |
| Brf1 |
T |
C |
12: 112,923,945 (GRCm39) |
Y676C |
unknown |
Het |
| Cachd1 |
T |
A |
4: 100,833,552 (GRCm39) |
H776Q |
possibly damaging |
Het |
| Cacng7 |
T |
C |
7: 3,385,183 (GRCm39) |
V28A |
probably damaging |
Het |
| Camk2g |
A |
T |
14: 20,792,780 (GRCm39) |
D359E |
probably benign |
Het |
| Cd209b |
T |
C |
8: 3,976,638 (GRCm39) |
D16G |
probably benign |
Het |
| Ceacam5 |
A |
G |
7: 17,493,410 (GRCm39) |
E811G |
possibly damaging |
Het |
| Cep55 |
T |
C |
19: 38,048,806 (GRCm39) |
|
probably null |
Het |
| Ctif |
C |
A |
18: 75,770,290 (GRCm39) |
V32L |
probably damaging |
Het |
| Cwc27 |
G |
A |
13: 104,797,900 (GRCm39) |
A353V |
probably benign |
Het |
| Dclk3 |
T |
A |
9: 111,314,064 (GRCm39) |
S713R |
probably damaging |
Het |
| Dlec1 |
C |
T |
9: 118,941,214 (GRCm39) |
H255Y |
probably benign |
Het |
| Dlgap1 |
A |
G |
17: 70,823,093 (GRCm39) |
H26R |
possibly damaging |
Het |
| Dydc1 |
C |
T |
14: 40,800,051 (GRCm39) |
T19I |
possibly damaging |
Het |
| Efcab12 |
G |
A |
6: 115,800,474 (GRCm39) |
P183L |
not run |
Het |
| Eif1ad19 |
T |
C |
12: 87,740,708 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
C |
A |
4: 117,446,343 (GRCm39) |
Q219K |
probably benign |
Het |
| Fam135a |
A |
G |
1: 24,083,295 (GRCm39) |
L310P |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,965,272 (GRCm39) |
S502T |
possibly damaging |
Het |
| Fgf8 |
A |
G |
19: 45,730,106 (GRCm39) |
S57P |
probably benign |
Het |
| Gls |
T |
C |
1: 52,259,139 (GRCm39) |
E154G |
probably damaging |
Het |
| Gm28042 |
T |
C |
2: 119,870,176 (GRCm39) |
L705P |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,736,512 (GRCm39) |
Q1961K |
probably benign |
Het |
| Herc3 |
C |
A |
6: 58,833,616 (GRCm39) |
Q168K |
probably benign |
Het |
| Il31ra |
C |
A |
13: 112,682,845 (GRCm39) |
C168F |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,257,072 (GRCm39) |
D860E |
probably benign |
Het |
| Iqcm |
T |
G |
8: 76,480,044 (GRCm39) |
L334R |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,641,204 (GRCm39) |
D1587G |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 109,882,201 (GRCm39) |
V355E |
probably benign |
Het |
| Mapk13 |
T |
A |
17: 28,995,361 (GRCm39) |
I194N |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,013,515 (GRCm39) |
T103A |
probably benign |
Het |
| Naglu |
G |
T |
11: 100,961,158 (GRCm39) |
G70W |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,343,201 (GRCm39) |
M126K |
possibly damaging |
Het |
| Or4c120 |
T |
C |
2: 89,001,714 (GRCm39) |
|
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,585 (GRCm39) |
V165E |
probably benign |
Het |
| Pdia4 |
T |
C |
6: 47,790,193 (GRCm39) |
T16A |
unknown |
Het |
| Pou6f2 |
G |
A |
13: 18,414,298 (GRCm39) |
A159V |
|
Het |
| Ripor1 |
A |
G |
8: 106,344,506 (GRCm39) |
T547A |
probably benign |
Het |
| Rundc3b |
A |
G |
5: 8,542,506 (GRCm39) |
S389P |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spats2 |
T |
C |
15: 99,110,054 (GRCm39) |
S484P |
probably benign |
Het |
| Supv3l1 |
G |
A |
10: 62,271,328 (GRCm39) |
T403I |
probably damaging |
Het |
| Tacstd2 |
G |
A |
6: 67,512,180 (GRCm39) |
R171W |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,471,552 (GRCm39) |
F542L |
probably damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,801,459 (GRCm39) |
N331K |
possibly damaging |
Het |
| Tff2 |
A |
T |
17: 31,361,200 (GRCm39) |
C118S |
probably damaging |
Het |
| Tmprss7 |
G |
A |
16: 45,498,317 (GRCm39) |
T354I |
possibly damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,313,774 (GRCm39) |
F33I |
probably damaging |
Het |
| Tpbpa |
G |
A |
13: 61,088,399 (GRCm39) |
|
probably benign |
Het |
| Ube3a |
G |
T |
7: 58,925,653 (GRCm39) |
V165F |
probably benign |
Het |
| Vmn2r4 |
T |
G |
3: 64,322,681 (GRCm39) |
T13P |
probably benign |
Het |
| Wnt8b |
A |
G |
19: 44,500,121 (GRCm39) |
D236G |
probably benign |
Het |
| Ythdf3 |
C |
A |
3: 16,258,451 (GRCm39) |
D210E |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,753 (GRCm39) |
Y800* |
probably null |
Het |
|
| Other mutations in Cecr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Cecr2
|
APN |
6 |
120,733,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00782:Cecr2
|
APN |
6 |
120,738,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01137:Cecr2
|
APN |
6 |
120,738,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01446:Cecr2
|
APN |
6 |
120,735,560 (GRCm39) |
missense |
probably benign |
|
|
IGL02108:Cecr2
|
APN |
6 |
120,739,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02195:Cecr2
|
APN |
6 |
120,708,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02689:Cecr2
|
APN |
6 |
120,739,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03189:Cecr2
|
APN |
6 |
120,739,391 (GRCm39) |
missense |
probably benign |
0.13 |
|
PIT1430001:Cecr2
|
UTSW |
6 |
120,735,440 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0200:Cecr2
|
UTSW |
6 |
120,738,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0586:Cecr2
|
UTSW |
6 |
120,734,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0715:Cecr2
|
UTSW |
6 |
120,735,159 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0784:Cecr2
|
UTSW |
6 |
120,735,110 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1185:Cecr2
|
UTSW |
6 |
120,735,166 (GRCm39) |
nonsense |
probably null |
|
|
R1185:Cecr2
|
UTSW |
6 |
120,735,166 (GRCm39) |
nonsense |
probably null |
|
|
R1185:Cecr2
|
UTSW |
6 |
120,735,166 (GRCm39) |
nonsense |
probably null |
|
|
R1343:Cecr2
|
UTSW |
6 |
120,731,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1349:Cecr2
|
UTSW |
6 |
120,734,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1386:Cecr2
|
UTSW |
6 |
120,739,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1438:Cecr2
|
UTSW |
6 |
120,738,433 (GRCm39) |
nonsense |
probably null |
|
|
R1602:Cecr2
|
UTSW |
6 |
120,732,548 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1664:Cecr2
|
UTSW |
6 |
120,738,987 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1731:Cecr2
|
UTSW |
6 |
120,735,141 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1817:Cecr2
|
UTSW |
6 |
120,708,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Cecr2
|
UTSW |
6 |
120,708,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1819:Cecr2
|
UTSW |
6 |
120,708,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Cecr2
|
UTSW |
6 |
120,734,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Cecr2
|
UTSW |
6 |
120,738,121 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1911:Cecr2
|
UTSW |
6 |
120,739,526 (GRCm39) |
unclassified |
probably benign |
|
|
R2135:Cecr2
|
UTSW |
6 |
120,697,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:Cecr2
|
UTSW |
6 |
120,733,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2275:Cecr2
|
UTSW |
6 |
120,733,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3713:Cecr2
|
UTSW |
6 |
120,735,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4271:Cecr2
|
UTSW |
6 |
120,739,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4706:Cecr2
|
UTSW |
6 |
120,732,539 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4873:Cecr2
|
UTSW |
6 |
120,727,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4875:Cecr2
|
UTSW |
6 |
120,727,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5137:Cecr2
|
UTSW |
6 |
120,732,478 (GRCm39) |
missense |
probably benign |
|
|
R5153:Cecr2
|
UTSW |
6 |
120,711,521 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5377:Cecr2
|
UTSW |
6 |
120,733,530 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5598:Cecr2
|
UTSW |
6 |
120,708,407 (GRCm39) |
splice site |
probably null |
|
|
R5651:Cecr2
|
UTSW |
6 |
120,732,521 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5680:Cecr2
|
UTSW |
6 |
120,738,387 (GRCm39) |
missense |
probably benign |
|
|
R5813:Cecr2
|
UTSW |
6 |
120,739,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5970:Cecr2
|
UTSW |
6 |
120,697,868 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6255:Cecr2
|
UTSW |
6 |
120,735,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Cecr2
|
UTSW |
6 |
120,738,647 (GRCm39) |
missense |
probably benign |
|
|
R6630:Cecr2
|
UTSW |
6 |
120,739,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Cecr2
|
UTSW |
6 |
120,714,084 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6754:Cecr2
|
UTSW |
6 |
120,734,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6807:Cecr2
|
UTSW |
6 |
120,711,503 (GRCm39) |
splice site |
probably null |
|
|
R7256:Cecr2
|
UTSW |
6 |
120,739,490 (GRCm39) |
missense |
probably benign |
|
|
R7282:Cecr2
|
UTSW |
6 |
120,738,582 (GRCm39) |
missense |
|
|
|
R7548:Cecr2
|
UTSW |
6 |
120,738,675 (GRCm39) |
missense |
|
|
|
R7596:Cecr2
|
UTSW |
6 |
120,739,167 (GRCm39) |
missense |
probably benign |
|
|
R7802:Cecr2
|
UTSW |
6 |
120,720,808 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8112:Cecr2
|
UTSW |
6 |
120,739,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8289:Cecr2
|
UTSW |
6 |
120,735,077 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8294:Cecr2
|
UTSW |
6 |
120,710,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8470:Cecr2
|
UTSW |
6 |
120,733,894 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8697:Cecr2
|
UTSW |
6 |
120,710,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Cecr2
|
UTSW |
6 |
120,715,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9371:Cecr2
|
UTSW |
6 |
120,739,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9416:Cecr2
|
UTSW |
6 |
120,735,538 (GRCm39) |
missense |
|
|
|
R9477:Cecr2
|
UTSW |
6 |
120,720,743 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9588:Cecr2
|
UTSW |
6 |
120,733,770 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0012:Cecr2
|
UTSW |
6 |
120,710,735 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0063:Cecr2
|
UTSW |
6 |
120,739,032 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Cecr2
|
UTSW |
6 |
120,697,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATGTCACAGCCATAAAGCCTTGAG -3'
(R):5'- ATGTGATGTGCCCACCTCTG -3'
Sequencing Primer
(F):5'- GCAGTGTAATATTTTCCAGAAGTAGC -3'
(R):5'- CCTCTGGAGGGAGTTGTATGGAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation