Incidental Mutation 'R3807:Cebpz'
| ID |
274998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cebpz
|
| Ensembl Gene |
ENSMUSG00000024081 |
| Gene Name |
CCAAT/enhancer binding protein zeta |
| Synonyms |
Cebpa-rs1, CBF2, Cbf |
| MMRRC Submission |
040764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R3807 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
79226435-79244495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79242847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 269
(L269Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024885]
[ENSMUST00000024887]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024885
AA Change: L269Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: L269Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
coiled coil region
|
113 |
143 |
N/A |
INTRINSIC |
|
Pfam:CBF
|
523 |
732 |
5.7e-58 |
PFAM |
|
low complexity region
|
834 |
851 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
904 |
N/A |
INTRINSIC |
|
low complexity region
|
957 |
969 |
N/A |
INTRINSIC |
|
low complexity region
|
1028 |
1042 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024887
|
| SMART Domains |
Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_28
|
95 |
349 |
5.5e-75 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the CEBP family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. Methylation of the promoter of this gene or mutations within the gene may be correlated with occurance of acute myeloid leukemia (AML). [provided by RefSeq, Jun 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
A |
T |
8: 112,717,002 (GRCm39) |
W2R |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,008,034 (GRCm39) |
I563T |
probably damaging |
Het |
| Armcx1 |
T |
C |
X: 133,622,014 (GRCm39) |
V372A |
probably damaging |
Het |
| Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
| Bpifb1 |
C |
A |
2: 154,055,922 (GRCm39) |
N329K |
probably benign |
Het |
| Ccdc113 |
A |
T |
8: 96,269,281 (GRCm39) |
N193I |
probably damaging |
Het |
| Cttn |
C |
T |
7: 143,999,588 (GRCm39) |
V290M |
probably damaging |
Het |
| Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,713,819 (GRCm39) |
M1455K |
possibly damaging |
Het |
| Eme1 |
A |
G |
11: 94,541,418 (GRCm39) |
W135R |
probably damaging |
Het |
| Entpd7 |
T |
G |
19: 43,713,979 (GRCm39) |
|
probably null |
Het |
| Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
| Erich1 |
T |
C |
8: 14,083,695 (GRCm39) |
N125S |
probably benign |
Het |
| Fam149a |
T |
A |
8: 45,834,647 (GRCm39) |
T51S |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,887,603 (GRCm39) |
G531D |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,560,870 (GRCm39) |
D1212E |
probably benign |
Het |
| Garin3 |
G |
A |
11: 46,295,780 (GRCm39) |
A51T |
possibly damaging |
Het |
| Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
| Gm11595 |
C |
T |
11: 99,663,380 (GRCm39) |
R100H |
unknown |
Het |
| Gria1 |
T |
C |
11: 57,201,504 (GRCm39) |
W712R |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,857,557 (GRCm39) |
N4047D |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,116 (GRCm39) |
Y11C |
possibly damaging |
Het |
| Lama2 |
GCCC |
GCC |
10: 27,066,661 (GRCm39) |
|
probably null |
Het |
| Lrrc56 |
A |
G |
7: 140,789,298 (GRCm39) |
T393A |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
| Med14 |
T |
C |
X: 12,553,416 (GRCm39) |
Y463C |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,515,599 (GRCm39) |
D1734V |
probably damaging |
Het |
| Nfe2l3 |
A |
T |
6: 51,434,357 (GRCm39) |
R306* |
probably null |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CCAGCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,069,791 (GRCm39) |
|
probably benign |
Het |
| Npr1 |
A |
T |
3: 90,366,033 (GRCm39) |
V586E |
probably damaging |
Het |
| Or2d2b |
A |
G |
7: 106,705,670 (GRCm39) |
S133P |
probably benign |
Het |
| Or5h24 |
A |
C |
16: 58,919,206 (GRCm39) |
*50G |
probably null |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,367 (GRCm39) |
F559S |
probably damaging |
Het |
| Psmd12 |
T |
G |
11: 107,386,591 (GRCm39) |
D387E |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,806,027 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rgs11 |
A |
T |
17: 26,422,474 (GRCm39) |
I69F |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,719,577 (GRCm39) |
A4277T |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 78,826,537 (GRCm39) |
V1359I |
probably benign |
Het |
| Sis |
A |
T |
3: 72,832,929 (GRCm39) |
V956E |
probably benign |
Het |
| Slc35f3 |
T |
A |
8: 127,115,978 (GRCm39) |
W302R |
probably damaging |
Het |
| Syt16 |
A |
G |
12: 74,276,172 (GRCm39) |
E212G |
possibly damaging |
Het |
| Tdp2 |
C |
A |
13: 25,015,776 (GRCm39) |
S21* |
probably null |
Het |
| Tfrc |
A |
T |
16: 32,435,644 (GRCm39) |
N173I |
possibly damaging |
Het |
| Tmem132b |
A |
T |
5: 125,864,644 (GRCm39) |
I917F |
probably damaging |
Het |
| Vbp1 |
T |
C |
X: 74,566,948 (GRCm39) |
V122A |
probably damaging |
Het |
| Vmn1r225 |
G |
A |
17: 20,723,114 (GRCm39) |
W185* |
probably null |
Het |
| Vmn1r70 |
A |
G |
7: 10,367,715 (GRCm39) |
T68A |
probably benign |
Het |
| Zfp518a |
A |
G |
19: 40,903,241 (GRCm39) |
K1057E |
possibly damaging |
Het |
|
| Other mutations in Cebpz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Cebpz
|
APN |
17 |
79,242,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01558:Cebpz
|
APN |
17 |
79,242,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01724:Cebpz
|
APN |
17 |
79,243,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01938:Cebpz
|
APN |
17 |
79,242,390 (GRCm39) |
nonsense |
probably null |
|
|
IGL02165:Cebpz
|
APN |
17 |
79,229,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Cebpz
|
APN |
17 |
79,230,690 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02455:Cebpz
|
APN |
17 |
79,242,465 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02690:Cebpz
|
APN |
17 |
79,229,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02698:Cebpz
|
APN |
17 |
79,243,003 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02755:Cebpz
|
APN |
17 |
79,238,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02827:Cebpz
|
APN |
17 |
79,236,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Cebpz
|
APN |
17 |
79,229,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
cedar_hill
|
UTSW |
17 |
79,244,339 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0125:Cebpz
|
UTSW |
17 |
79,227,317 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0138:Cebpz
|
UTSW |
17 |
79,238,820 (GRCm39) |
missense |
probably benign |
|
|
R0310:Cebpz
|
UTSW |
17 |
79,233,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0436:Cebpz
|
UTSW |
17 |
79,243,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0589:Cebpz
|
UTSW |
17 |
79,244,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0828:Cebpz
|
UTSW |
17 |
79,233,411 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1355:Cebpz
|
UTSW |
17 |
79,242,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1367:Cebpz
|
UTSW |
17 |
79,230,742 (GRCm39) |
missense |
probably benign |
|
|
R1583:Cebpz
|
UTSW |
17 |
79,242,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1639:Cebpz
|
UTSW |
17 |
79,242,035 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1818:Cebpz
|
UTSW |
17 |
79,242,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Cebpz
|
UTSW |
17 |
79,239,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1908:Cebpz
|
UTSW |
17 |
79,242,336 (GRCm39) |
nonsense |
probably null |
|
|
R1909:Cebpz
|
UTSW |
17 |
79,242,336 (GRCm39) |
nonsense |
probably null |
|
|
R2094:Cebpz
|
UTSW |
17 |
79,242,983 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2314:Cebpz
|
UTSW |
17 |
79,227,976 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2763:Cebpz
|
UTSW |
17 |
79,243,358 (GRCm39) |
missense |
probably benign |
|
|
R2874:Cebpz
|
UTSW |
17 |
79,239,532 (GRCm39) |
splice site |
probably benign |
|
|
R4012:Cebpz
|
UTSW |
17 |
79,231,896 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5344:Cebpz
|
UTSW |
17 |
79,233,542 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5394:Cebpz
|
UTSW |
17 |
79,229,634 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5711:Cebpz
|
UTSW |
17 |
79,242,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Cebpz
|
UTSW |
17 |
79,233,366 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6238:Cebpz
|
UTSW |
17 |
79,244,339 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6257:Cebpz
|
UTSW |
17 |
79,243,261 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6825:Cebpz
|
UTSW |
17 |
79,227,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Cebpz
|
UTSW |
17 |
79,233,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7994:Cebpz
|
UTSW |
17 |
79,242,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8045:Cebpz
|
UTSW |
17 |
79,239,585 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8210:Cebpz
|
UTSW |
17 |
79,230,685 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8694:Cebpz
|
UTSW |
17 |
79,234,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Cebpz
|
UTSW |
17 |
79,229,081 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8774:Cebpz
|
UTSW |
17 |
79,229,073 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8774-TAIL:Cebpz
|
UTSW |
17 |
79,229,073 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9058:Cebpz
|
UTSW |
17 |
79,243,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9514:Cebpz
|
UTSW |
17 |
79,239,684 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCTTGTTGCCACTGGAC -3'
(R):5'- ACAGCGGTGAGTATTCCTTG -3'
Sequencing Primer
(F):5'- GACAACTCTTCCAGTTTGTGG -3'
(R):5'- TGTCGTGTCCAAGTACAAAGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation