Incidental Mutation 'IGL01446:Cecr2'
| ID |
84437 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cecr2
|
| Ensembl Gene |
ENSMUSG00000071226 |
| Gene Name |
CECR2, histone acetyl-lysine reader |
| Synonyms |
cat eye syndrome chromosome region, candidate 2, Gtl4, 2610101O16Rik, 2810409N01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01446
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
120643330-120748151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120735560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 904
(M904K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
[ENSMUST00000129803]
|
| AlphaFold |
E9Q2Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100993
AA Change: M932K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
AA Change: M932K
| 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: M904K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
AA Change: M904K
| 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 |
unknown
Transcript: ENSMUST00000143563
AA Change: M155K
|
| SMART Domains |
Protein: ENSMUSP00000116993
Gene: ENSMUSG00000071226
AA Change: M155K
| 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 |
|
| Validation Efficiency |
|
| 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 |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Acaca |
A |
G |
11: 84,151,457 (GRCm39) |
K785R |
probably damaging |
Het |
| Acsm3 |
G |
A |
7: 119,377,677 (GRCm39) |
V401M |
probably damaging |
Het |
| Aff4 |
G |
T |
11: 53,306,296 (GRCm39) |
R1146L |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,673,683 (GRCm39) |
P3562T |
probably damaging |
Het |
| Arsj |
A |
G |
3: 126,232,463 (GRCm39) |
E403G |
probably benign |
Het |
| Baiap2l1 |
C |
T |
5: 144,212,723 (GRCm39) |
V431I |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,943,300 (GRCm39) |
T775S |
probably benign |
Het |
| Dennd1b |
G |
A |
1: 138,950,848 (GRCm39) |
E30K |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,815 (GRCm39) |
D2008G |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,392,672 (GRCm39) |
V460A |
probably damaging |
Het |
| Ell2 |
G |
T |
13: 75,910,110 (GRCm39) |
L285F |
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,314,529 (GRCm39) |
F218L |
probably benign |
Het |
| Fzd9 |
T |
C |
5: 135,279,420 (GRCm39) |
E155G |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,362,837 (GRCm39) |
W212R |
probably damaging |
Het |
| Gulp1 |
A |
G |
1: 44,783,708 (GRCm39) |
|
probably benign |
Het |
| Hdgfl2 |
C |
T |
17: 56,404,281 (GRCm39) |
R332C |
possibly damaging |
Het |
| Lratd1 |
A |
T |
12: 14,199,929 (GRCm39) |
I266N |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,018,530 (GRCm39) |
|
probably benign |
Het |
| Or4c12 |
A |
G |
2: 89,774,282 (GRCm39) |
F59S |
probably damaging |
Het |
| Or5a3 |
T |
C |
19: 12,400,165 (GRCm39) |
I164T |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,616 (GRCm39) |
T237I |
probably benign |
Het |
| Phf11b |
A |
C |
14: 59,578,740 (GRCm39) |
S9A |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,295,407 (GRCm39) |
S854P |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,174,315 (GRCm39) |
D1963N |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,306,042 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,672,811 (GRCm39) |
S235P |
probably damaging |
Het |
| Sgip1 |
G |
T |
4: 102,786,110 (GRCm39) |
|
probably null |
Het |
| Skint5 |
G |
A |
4: 113,800,019 (GRCm39) |
P36L |
probably damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,502,490 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,174,479 (GRCm39) |
C669* |
probably null |
Het |
| Svil |
A |
T |
18: 5,062,385 (GRCm39) |
T902S |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,088,149 (GRCm39) |
S4989P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,640,283 (GRCm39) |
T13775M |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,165,351 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
C |
T |
7: 45,858,380 (GRCm39) |
R636H |
possibly damaging |
Het |
| Usp17lc |
A |
T |
7: 103,067,651 (GRCm39) |
R315S |
probably benign |
Het |
| Vmn1r236 |
T |
A |
17: 21,506,918 (GRCm39) |
V12D |
probably benign |
Het |
| Wsb2 |
T |
G |
5: 117,509,229 (GRCm39) |
I170S |
probably damaging |
Het |
| Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly damaging |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-11-11 |
Incidental Mutation