Incidental Mutation 'IGL01991:Creb1'
| ID |
182857 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Creb1
|
| Ensembl Gene |
ENSMUSG00000025958 |
| Gene Name |
cAMP responsive element binding protein 1 |
| Synonyms |
Creb, Creb-1, 2310001E10Rik, 3526402H21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
IGL01991
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
64571963-64643707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64598913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 97
(F97L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049932]
[ENSMUST00000087366]
[ENSMUST00000171164]
[ENSMUST00000185594]
[ENSMUST00000187811]
[ENSMUST00000190348]
[ENSMUST00000190876]
|
| AlphaFold |
Q01147 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049932
AA Change: F97L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059973
Gene: ENSMUSG00000025958
AA Change: F97L
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
16 |
89 |
5.16e-5 |
PROSPERO |
|
Pfam:pKID
|
113 |
153 |
7.7e-24 |
PFAM |
|
low complexity region
|
162 |
174 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
184 |
260 |
5.16e-5 |
PROSPERO |
|
BRLZ
|
281 |
339 |
1.25e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087366
|
| SMART Domains |
Protein: ENSMUSP00000084624
Gene: ENSMUSG00000025958
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
16 |
90 |
1.46e-5 |
PROSPERO |
|
Pfam:pKID
|
99 |
141 |
5.3e-24 |
PFAM |
|
low complexity region
|
148 |
160 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
170 |
247 |
1.46e-5 |
PROSPERO |
|
BRLZ
|
267 |
325 |
1.25e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171164
|
| SMART Domains |
Protein: ENSMUSP00000132860
Gene: ENSMUSG00000025958
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:pKID
|
59 |
101 |
9e-24 |
PFAM |
|
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
|
BRLZ
|
227 |
285 |
1.25e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185594
|
| SMART Domains |
Protein: ENSMUSP00000139995
Gene: ENSMUSG00000025958
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
16 |
90 |
1.46e-5 |
PROSPERO |
|
Pfam:pKID
|
99 |
141 |
5.3e-24 |
PFAM |
|
low complexity region
|
148 |
160 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
170 |
247 |
1.46e-5 |
PROSPERO |
|
BRLZ
|
267 |
325 |
1.25e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187035
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187811
|
| SMART Domains |
Protein: ENSMUSP00000140649
Gene: ENSMUSG00000025958
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:pKID
|
99 |
141 |
3.8e-21 |
PFAM |
|
low complexity region
|
148 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190348
AA Change: F97L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140112
Gene: ENSMUSG00000025958
AA Change: F97L
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
16 |
89 |
5.16e-5 |
PROSPERO |
|
Pfam:pKID
|
113 |
155 |
1.2e-23 |
PFAM |
|
low complexity region
|
162 |
174 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
184 |
260 |
5.16e-5 |
PROSPERO |
|
BRLZ
|
281 |
339 |
1.25e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188855
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190876
|
| 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 transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for alleles lacking some or all isotypes exhibit a range of defects involving circadian rhythms, axonal growth, sensory neuron survival, long-term memory, fear conditioning, body size, respiration, and neonatal viability. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(85) : Targeted, knock-out(2) Targeted, other(7) Gene trapped(76)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
A |
T |
6: 146,854,608 (GRCm39) |
F145I |
probably benign |
Het |
| Acot7 |
A |
G |
4: 152,307,536 (GRCm39) |
K152E |
possibly damaging |
Het |
| Adamts13 |
G |
T |
2: 26,880,610 (GRCm39) |
G731V |
probably damaging |
Het |
| Als2cl |
C |
T |
9: 110,721,985 (GRCm39) |
R584C |
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,914,836 (GRCm39) |
S679T |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,649,219 (GRCm39) |
V403I |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,899,133 (GRCm39) |
T14A |
possibly damaging |
Het |
| Crispld1 |
T |
A |
1: 17,823,241 (GRCm39) |
H407Q |
probably benign |
Het |
| Crtac1 |
A |
T |
19: 42,402,560 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Cyp2c29 |
T |
C |
19: 39,318,759 (GRCm39) |
I452T |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,982,322 (GRCm39) |
D95E |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,090,600 (GRCm39) |
P1002L |
probably damaging |
Het |
| Gm6878 |
G |
A |
14: 67,543,678 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,682 (GRCm39) |
Y1048C |
probably damaging |
Het |
| Iqcc |
T |
A |
4: 129,511,582 (GRCm39) |
E105V |
probably benign |
Het |
| Lhx8 |
A |
G |
3: 154,030,191 (GRCm39) |
L116P |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,664,149 (GRCm39) |
D1962G |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,566,077 (GRCm39) |
M2215L |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,146,835 (GRCm39) |
L136Q |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,912,172 (GRCm39) |
N1896D |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,645,838 (GRCm39) |
E674G |
probably damaging |
Het |
| Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
| Or8j3 |
T |
C |
2: 86,028,877 (GRCm39) |
N73S |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,299,807 (GRCm39) |
|
probably null |
Het |
| Pramel41 |
A |
T |
5: 94,593,705 (GRCm39) |
Q10L |
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,204,848 (GRCm39) |
T209A |
probably benign |
Het |
| Prom2 |
C |
A |
2: 127,371,142 (GRCm39) |
C785F |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,418,350 (GRCm39) |
Q139R |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,443,695 (GRCm39) |
C93S |
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Scn11a |
A |
G |
9: 119,648,970 (GRCm39) |
I31T |
probably damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,240,525 (GRCm39) |
D164V |
possibly damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,830 (GRCm39) |
I208V |
probably benign |
Het |
| Traf4 |
T |
C |
11: 78,050,872 (GRCm39) |
D428G |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,871,360 (GRCm39) |
I586V |
possibly damaging |
Het |
| Unc80 |
T |
A |
1: 66,508,668 (GRCm39) |
C46* |
probably null |
Het |
| Vmn2r89 |
A |
G |
14: 51,689,676 (GRCm39) |
N60D |
probably benign |
Het |
| Wscd1 |
A |
T |
11: 71,678,549 (GRCm39) |
K391* |
probably null |
Het |
| Wwc2 |
A |
T |
8: 48,322,901 (GRCm39) |
L400* |
probably null |
Het |
|
| Other mutations in Creb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01299:Creb1
|
APN |
1 |
64,609,284 (GRCm39) |
splice site |
probably benign |
|
|
IGL03137:Creb1
|
APN |
1 |
64,615,374 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03408:Creb1
|
APN |
1 |
64,615,491 (GRCm39) |
splice site |
probably null |
|
|
1mM(1):Creb1
|
UTSW |
1 |
64,613,330 (GRCm39) |
nonsense |
probably null |
|
|
R0028:Creb1
|
UTSW |
1 |
64,609,307 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0069:Creb1
|
UTSW |
1 |
64,615,367 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0069:Creb1
|
UTSW |
1 |
64,615,367 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0506:Creb1
|
UTSW |
1 |
64,609,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Creb1
|
UTSW |
1 |
64,590,109 (GRCm39) |
nonsense |
probably null |
|
|
R1835:Creb1
|
UTSW |
1 |
64,590,109 (GRCm39) |
nonsense |
probably null |
|
|
R1836:Creb1
|
UTSW |
1 |
64,590,109 (GRCm39) |
nonsense |
probably null |
|
|
R7254:Creb1
|
UTSW |
1 |
64,615,436 (GRCm39) |
nonsense |
probably null |
|
|
R7716:Creb1
|
UTSW |
1 |
64,605,420 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7934:Creb1
|
UTSW |
1 |
64,609,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8275:Creb1
|
UTSW |
1 |
64,597,687 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9005:Creb1
|
UTSW |
1 |
64,605,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9431:Creb1
|
UTSW |
1 |
64,615,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9758:Creb1
|
UTSW |
1 |
64,598,909 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation