Incidental Mutation 'R8112:Cecr2'
ID |
630923 |
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 |
067541-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8112 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
120643330-120748151 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120739175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1301
(S1301P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100993]
[ENSMUST00000112686]
|
AlphaFold |
E9Q2Z1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100993
AA Change: S1301P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000098556 Gene: ENSMUSG00000071226 AA Change: S1301P
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: S1273P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000108306 Gene: ENSMUSG00000071226 AA Change: S1273P
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: 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: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 95.0%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,264,624 (GRCm39) |
V3002A |
probably benign |
Het |
Aifm3 |
T |
C |
16: 17,320,804 (GRCm39) |
V422A |
probably damaging |
Het |
Alx3 |
G |
T |
3: 107,512,300 (GRCm39) |
E313* |
probably null |
Het |
Arfgef3 |
A |
G |
10: 18,528,379 (GRCm39) |
V336A |
possibly damaging |
Het |
Art5 |
A |
T |
7: 101,747,218 (GRCm39) |
V187E |
probably benign |
Het |
Atxn1 |
A |
G |
13: 45,721,433 (GRCm39) |
V154A |
probably benign |
Het |
B3galt1 |
A |
G |
2: 67,948,702 (GRCm39) |
D139G |
probably damaging |
Het |
Cbx5 |
A |
G |
15: 103,108,171 (GRCm39) |
V158A |
probably benign |
Het |
Cdca7l |
T |
C |
12: 117,840,779 (GRCm39) |
|
probably null |
Het |
Chmp3 |
T |
A |
6: 71,538,012 (GRCm39) |
S80T |
probably benign |
Het |
Cyp2g1 |
T |
A |
7: 26,518,886 (GRCm39) |
D427E |
probably benign |
Het |
Depdc5 |
G |
A |
5: 33,126,050 (GRCm39) |
V1199I |
possibly damaging |
Het |
Efcab3 |
T |
C |
11: 104,841,026 (GRCm39) |
V3643A |
unknown |
Het |
Ehmt1 |
G |
T |
2: 24,753,396 (GRCm39) |
L335M |
probably damaging |
Het |
Elfn2 |
A |
G |
15: 78,557,635 (GRCm39) |
V304A |
probably damaging |
Het |
Emc1 |
C |
T |
4: 139,094,498 (GRCm39) |
R684W |
probably benign |
Het |
Eme2 |
A |
T |
17: 25,113,809 (GRCm39) |
V72E |
probably damaging |
Het |
Gen1 |
T |
A |
12: 11,304,374 (GRCm39) |
K230* |
probably null |
Het |
Gfap |
T |
A |
11: 102,787,928 (GRCm39) |
I6F |
probably benign |
Het |
Grid2 |
T |
C |
6: 63,885,891 (GRCm39) |
S96P |
probably damaging |
Het |
H2-M2 |
A |
G |
17: 37,794,383 (GRCm39) |
L13P |
unknown |
Het |
Hps4 |
T |
G |
5: 112,517,977 (GRCm39) |
C323W |
probably benign |
Het |
Ing3 |
A |
G |
6: 21,952,181 (GRCm39) |
K52E |
probably damaging |
Het |
Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
Krt4 |
T |
A |
15: 101,828,724 (GRCm39) |
N380I |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,441,715 (GRCm39) |
C174S |
probably damaging |
Het |
Lrrc8e |
T |
C |
8: 4,285,575 (GRCm39) |
I600T |
probably benign |
Het |
Malt1 |
T |
C |
18: 65,582,680 (GRCm39) |
|
probably null |
Het |
Mindy1 |
T |
C |
3: 95,202,122 (GRCm39) |
L333P |
probably damaging |
Het |
Mrgprb1 |
A |
G |
7: 48,097,682 (GRCm39) |
S77P |
probably damaging |
Het |
Mtus2 |
G |
T |
5: 148,013,713 (GRCm39) |
E169* |
probably null |
Het |
Muc5b |
A |
G |
7: 141,415,765 (GRCm39) |
T2904A |
possibly damaging |
Het |
Noxa1 |
C |
T |
2: 24,982,553 (GRCm39) |
|
probably null |
Het |
Ogfod3 |
G |
A |
11: 121,095,376 (GRCm39) |
R5W |
probably damaging |
Het |
Or4f59 |
T |
A |
2: 111,872,982 (GRCm39) |
I132F |
probably damaging |
Het |
Or7g35 |
T |
A |
9: 19,496,020 (GRCm39) |
F62L |
probably benign |
Het |
Or9i16 |
A |
G |
19: 13,864,753 (GRCm39) |
S274P |
probably damaging |
Het |
Pgm3 |
C |
A |
9: 86,446,828 (GRCm39) |
R230L |
probably benign |
Het |
Plpbp |
A |
G |
8: 27,536,069 (GRCm39) |
I121V |
unknown |
Het |
Prl8a9 |
T |
C |
13: 27,743,355 (GRCm39) |
D150G |
probably benign |
Het |
Psapl1 |
A |
G |
5: 36,362,919 (GRCm39) |
N504D |
probably benign |
Het |
Ptchd4 |
A |
C |
17: 42,814,066 (GRCm39) |
N656H |
probably benign |
Het |
Ptprs |
A |
T |
17: 56,741,532 (GRCm39) |
Y577* |
probably null |
Het |
Rasgef1c |
A |
G |
11: 49,858,228 (GRCm39) |
Y263C |
probably damaging |
Het |
Rinl |
A |
G |
7: 28,490,014 (GRCm39) |
|
probably null |
Het |
Scd4 |
T |
C |
19: 44,325,945 (GRCm39) |
F100L |
probably benign |
Het |
Scgb2b20 |
T |
G |
7: 33,063,969 (GRCm39) |
R100S |
probably benign |
Het |
Scn8a |
C |
T |
15: 100,927,718 (GRCm39) |
A1399V |
probably benign |
Het |
Slc22a7 |
A |
G |
17: 46,747,756 (GRCm39) |
V267A |
probably benign |
Het |
Slc7a11 |
T |
C |
3: 50,372,440 (GRCm39) |
E263G |
possibly damaging |
Het |
Slmap |
A |
G |
14: 26,143,703 (GRCm39) |
L728P |
probably damaging |
Het |
Smarcb1 |
A |
T |
10: 75,745,986 (GRCm39) |
|
probably null |
Het |
Sspn |
T |
C |
6: 145,901,361 (GRCm39) |
V80A |
possibly damaging |
Het |
Tasor2 |
A |
T |
13: 3,619,516 (GRCm39) |
D2238E |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,195,399 (GRCm39) |
T581A |
probably benign |
Het |
Themis |
A |
G |
10: 28,673,502 (GRCm39) |
*596W |
probably null |
Het |
Thoc2l |
T |
C |
5: 104,669,501 (GRCm39) |
F1341S |
probably benign |
Het |
Trac |
T |
C |
14: 54,460,557 (GRCm39) |
|
probably benign |
Het |
Trim37 |
T |
C |
11: 87,109,093 (GRCm39) |
F940S |
possibly damaging |
Het |
Trpa1 |
T |
C |
1: 14,974,490 (GRCm39) |
T231A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,580,529 (GRCm39) |
I23455V |
probably benign |
Het |
Wap |
G |
T |
11: 6,586,724 (GRCm39) |
T125K |
probably benign |
Het |
Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
Zfp85 |
T |
C |
13: 67,896,893 (GRCm39) |
D393G |
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 |
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 |
|
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 |
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'- CCTTAACTTCTCCAACTCAAATGG -3'
(R):5'- AGCCTGAAAGTGACCTAGGC -3'
Sequencing Primer
(F):5'- CCAACTCAAATGGATGTAGTGACTGC -3'
(R):5'- TCTTCCTGACAGCAGTAGAGG -3'
|
Posted On |
2020-06-30 |