Incidental Mutation 'R6807:Cecr2'
| ID |
533592 |
| 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 |
044920-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6807 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
120643330-120748151 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 120711503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
[ENSMUST00000129803]
|
| AlphaFold |
E9Q2Z1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000100993
|
| SMART Domains |
Protein: ENSMUSP00000098556
Gene: ENSMUSG00000071226
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108306
Gene: ENSMUSG00000071226
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.9%
|
| Validation Efficiency |
100% (72/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,282,356 (GRCm39) |
T2158A |
probably benign |
Het |
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Apol7a |
T |
C |
15: 77,277,520 (GRCm39) |
|
probably null |
Het |
| Bicdl1 |
C |
T |
5: 115,810,202 (GRCm39) |
|
probably null |
Het |
| Bop1 |
T |
A |
15: 76,339,183 (GRCm39) |
Q362L |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,949,930 (GRCm39) |
D1418G |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,214,650 (GRCm39) |
V1455A |
possibly damaging |
Het |
| Cer1 |
T |
C |
4: 82,801,052 (GRCm39) |
S204G |
probably benign |
Het |
| Cers3 |
G |
C |
7: 66,413,968 (GRCm39) |
W15C |
probably damaging |
Het |
| Csn1s2a |
A |
T |
5: 87,929,731 (GRCm39) |
H110L |
probably benign |
Het |
| Dnah10 |
T |
G |
5: 124,867,064 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,041,718 (GRCm39) |
N3315S |
probably benign |
Het |
| Dynlrb2 |
T |
C |
8: 117,234,299 (GRCm39) |
M21T |
probably benign |
Het |
| Emilin1 |
T |
A |
5: 31,072,871 (GRCm39) |
F103I |
probably benign |
Het |
| Esrra |
T |
A |
19: 6,889,142 (GRCm39) |
M416L |
probably benign |
Het |
| Etaa1 |
C |
A |
11: 17,902,680 (GRCm39) |
V86L |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,314,211 (GRCm39) |
S324P |
probably damaging |
Het |
| Fam90a1a |
T |
C |
8: 22,453,368 (GRCm39) |
V241A |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,036,589 (GRCm39) |
Q3414K |
probably benign |
Het |
| Gpr162 |
C |
T |
6: 124,838,164 (GRCm39) |
R162H |
probably damaging |
Het |
| Gpr21 |
T |
A |
2: 37,407,974 (GRCm39) |
Y173* |
probably null |
Het |
| Gprc6a |
G |
A |
10: 51,502,841 (GRCm39) |
Q341* |
probably null |
Het |
| Herc2 |
T |
A |
7: 55,814,670 (GRCm39) |
S2674R |
probably damaging |
Het |
| Hnrnpdl |
A |
T |
5: 100,186,995 (GRCm39) |
H9Q |
probably null |
Het |
| Hps1 |
A |
G |
19: 42,759,217 (GRCm39) |
V125A |
possibly damaging |
Het |
| Iba57 |
G |
T |
11: 59,049,440 (GRCm39) |
P243H |
probably damaging |
Het |
| Incenp |
G |
T |
19: 9,855,120 (GRCm39) |
A597E |
unknown |
Het |
| Kat6a |
T |
A |
8: 23,430,384 (GRCm39) |
M1913K |
unknown |
Het |
| Klb |
G |
A |
5: 65,536,877 (GRCm39) |
V736M |
probably damaging |
Het |
| Krt33a |
T |
A |
11: 99,903,209 (GRCm39) |
T278S |
possibly damaging |
Het |
| Krt73 |
T |
G |
15: 101,704,842 (GRCm39) |
E348A |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,674,577 (GRCm39) |
D134E |
probably benign |
Het |
| Limd2 |
T |
C |
11: 106,049,771 (GRCm39) |
T73A |
probably benign |
Het |
| Lrpprc |
A |
G |
17: 85,056,531 (GRCm39) |
S787P |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,268,208 (GRCm39) |
M6735T |
probably damaging |
Het |
| Mapkbp1 |
C |
A |
2: 119,851,640 (GRCm39) |
Q861K |
probably damaging |
Het |
| Mc4r |
T |
A |
18: 66,992,927 (GRCm39) |
N62I |
probably damaging |
Het |
| Metap1d |
G |
A |
2: 71,341,858 (GRCm39) |
V151I |
probably damaging |
Het |
| Nek2 |
T |
C |
1: 191,554,729 (GRCm39) |
V147A |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,108,530 (GRCm39) |
W324R |
probably damaging |
Het |
| Nol4l |
G |
T |
2: 153,325,746 (GRCm39) |
S113* |
probably null |
Het |
| Oc90 |
T |
A |
15: 65,761,463 (GRCm39) |
D185V |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,172 (GRCm39) |
F60S |
probably damaging |
Het |
| Or2v1 |
G |
A |
11: 49,025,805 (GRCm39) |
R262K |
probably damaging |
Het |
| Or4a71 |
G |
A |
2: 89,357,932 (GRCm39) |
T274M |
probably damaging |
Het |
| Or5m13 |
A |
T |
2: 85,748,382 (GRCm39) |
T38S |
possibly damaging |
Het |
| Or5p51 |
T |
A |
7: 107,444,797 (GRCm39) |
T48S |
possibly damaging |
Het |
| Or8g50 |
A |
T |
9: 39,648,914 (GRCm39) |
K268* |
probably null |
Het |
| Pcdha8 |
A |
G |
18: 37,127,401 (GRCm39) |
T628A |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,549,986 (GRCm39) |
|
probably null |
Het |
| Pdgfrb |
T |
C |
18: 61,211,721 (GRCm39) |
|
probably null |
Het |
| Pgm3 |
A |
T |
9: 86,438,555 (GRCm39) |
|
probably null |
Het |
| Pin1rt1 |
T |
A |
2: 104,545,063 (GRCm39) |
Y23F |
probably benign |
Het |
| Poli |
T |
A |
18: 70,663,222 (GRCm39) |
|
probably null |
Het |
| Pom121 |
C |
A |
5: 135,409,978 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5c |
A |
G |
12: 110,535,456 (GRCm39) |
D407G |
possibly damaging |
Het |
| Pramel28 |
A |
G |
4: 143,691,581 (GRCm39) |
S381P |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,180,515 (GRCm39) |
D116G |
probably null |
Het |
| Serpina3b |
A |
T |
12: 104,099,251 (GRCm39) |
E255D |
probably benign |
Het |
| Sft2d1rt |
T |
C |
11: 45,942,859 (GRCm39) |
Q88R |
probably damaging |
Het |
| Slc46a1 |
A |
G |
11: 78,357,790 (GRCm39) |
H281R |
probably damaging |
Het |
| Spata6 |
T |
C |
4: 111,642,012 (GRCm39) |
I294T |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,664,631 (GRCm39) |
|
probably null |
Het |
| Stag1 |
C |
T |
9: 100,826,903 (GRCm39) |
R957C |
probably damaging |
Het |
| Stk35 |
G |
A |
2: 129,643,573 (GRCm39) |
E186K |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,544,478 (GRCm39) |
V2165I |
probably damaging |
Het |
| Tmem53 |
T |
C |
4: 117,125,528 (GRCm39) |
S207P |
probably benign |
Het |
| Ugt2a3 |
A |
G |
5: 87,484,617 (GRCm39) |
F136L |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,957,577 (GRCm39) |
K795E |
probably damaging |
Het |
| Zbtb11 |
C |
A |
16: 55,810,865 (GRCm39) |
T341K |
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 |
|
|
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 |
|
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'- ACACCATTTGTTGCTAGGAAGGTG -3'
(R):5'- GAGGGGAAACTAAGGTACCTTC -3'
Sequencing Primer
(F):5'- CCATTTGTTGCTAGGAAGGTGTTAGG -3'
(R):5'- AGGTACCTTCTAGTATGAGAGAGTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation