Incidental Mutation 'R1185:Cecr2'
| ID |
200853 |
| 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 |
039257-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1185 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
120643330-120748151 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 120735166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 24
(R24*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
[ENSMUST00000129803]
|
| AlphaFold |
E9Q2Z1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000100993
AA Change: R801*
|
| SMART Domains |
Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: R801*
| 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 null
Transcript: ENSMUST00000112686
AA Change: R773*
|
| SMART Domains |
Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: R773*
| 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 |
noncoding transcript
Transcript: ENSMUST00000124634
|
| 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 null
Transcript: ENSMUST00000143563
AA Change: R24*
|
| SMART Domains |
Protein: ENSMUSP00000116993
Gene: ENSMUSG00000071226
AA Change: R24*
| 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 |
|
| Meta Mutation Damage Score |
0.9707 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
96% (45/47) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ac165356.1 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
| Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
| Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
| Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
| Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
| Ift70a1 |
A |
T |
2: 75,810,696 (GRCm39) |
N462K |
probably damaging |
Het |
| Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
| Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
| Muc19 |
A |
G |
15: 91,762,743 (GRCm39) |
|
noncoding transcript |
Het |
| Myo16 |
T |
A |
8: 10,683,624 (GRCm39) |
S1856T |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
| Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
| Rsph10b |
G |
A |
5: 143,903,280 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
| Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,891,781 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
| Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
probably benign |
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 |
|
|
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 |
|
|
R7187:Cecr2
|
UTSW |
6 |
120,733,647 (GRCm39) |
missense |
probably benign |
|
|
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'- TGTATCCACCAGCTCCATTCCAGG -3'
(R):5'- CTGCTGCATGGCAATCATTTCAGG -3'
Sequencing Primer
(F):5'- TGAAAGCTCTGAAATTCCTCCCG -3'
(R):5'- GCAATCATTTCAGGGCTGTC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation