Incidental Mutation 'R1693:Creb3'
| ID |
191920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creb3
|
| Ensembl Gene |
ENSMUSG00000028466 |
| Gene Name |
cAMP responsive element binding protein 3 |
| Synonyms |
LZIP-1, LZIP, Luman, LZIP-2 |
| MMRRC Submission |
039726-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.803)
|
| Stock # |
R1693 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43562658-43567061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 43566755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 390
(H390Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030187]
[ENSMUST00000030189]
[ENSMUST00000102944]
[ENSMUST00000130443]
[ENSMUST00000167751]
[ENSMUST00000132631]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030187
|
| SMART Domains |
Protein: ENSMUSP00000030187
Gene: ENSMUSG00000028465
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B41
|
2 |
76 |
5e-31 |
BLAST |
|
B41
|
82 |
313 |
4.66e-73 |
SMART |
|
IRS
|
308 |
401 |
7.65e-16 |
SMART |
|
Pfam:Talin_middle
|
491 |
652 |
8.2e-60 |
PFAM |
|
low complexity region
|
671 |
690 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
699 |
760 |
8.94e-6 |
PROSPERO |
|
low complexity region
|
766 |
775 |
N/A |
INTRINSIC |
|
PDB:1ZVZ|B
|
820 |
844 |
2e-7 |
PDB |
|
low complexity region
|
866 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
884 |
895 |
N/A |
INTRINSIC |
|
PDB:2LQG|A
|
913 |
1044 |
2e-44 |
PDB |
|
PDB:2L7N|A
|
1046 |
1207 |
1e-101 |
PDB |
|
Pfam:VBS
|
1234 |
1358 |
9.6e-8 |
PFAM |
|
internal_repeat_2
|
1488 |
1549 |
8.94e-6 |
PROSPERO |
|
internal_repeat_3
|
1623 |
1769 |
4.92e-5 |
PROSPERO |
|
low complexity region
|
1817 |
1828 |
N/A |
INTRINSIC |
|
Pfam:VBS
|
1849 |
1973 |
6.2e-67 |
PFAM |
|
PDB:3DYJ|B
|
1974 |
2293 |
N/A |
PDB |
|
low complexity region
|
2305 |
2327 |
N/A |
INTRINSIC |
|
ILWEQ
|
2336 |
2533 |
2.93e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030189
|
| SMART Domains |
Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBA2_N
|
142 |
446 |
9.4e-106 |
PFAM |
|
Pfam:DUF608
|
512 |
879 |
1.3e-153 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102944
AA Change: H366Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100008
Gene: ENSMUSG00000028466
AA Change: H366Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
147 |
N/A |
INTRINSIC |
|
BRLZ
|
158 |
222 |
2.03e-15 |
SMART |
|
low complexity region
|
240 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126277
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128403
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130443
|
| SMART Domains |
Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBA2_N
|
142 |
180 |
5.6e-13 |
PFAM |
|
Pfam:GBA2_N
|
178 |
227 |
1.5e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167751
AA Change: H390Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129401
Gene: ENSMUSG00000028466
AA Change: H390Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
171 |
N/A |
INTRINSIC |
|
BRLZ
|
182 |
246 |
2.03e-15 |
SMART |
|
low complexity region
|
264 |
277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138623
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159923
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132631
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
96% (69/72) |
| 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 to the cAMP-response element and regulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. This protein also plays a role in leukocyte migration, tumor suppression, and endoplasmic reticulum stress-associated protein degradation. Additional transcript variants have been identified, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]
|
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
A |
G |
11: 53,287,380 (GRCm39) |
D378G |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,124,701 (GRCm39) |
Y981H |
probably damaging |
Het |
| Arfgap2 |
T |
A |
2: 91,100,420 (GRCm39) |
|
probably null |
Het |
| Ccnf |
TGGGGG |
TGGGGGGG |
17: 24,445,514 (GRCm39) |
|
probably null |
Het |
| Cd53 |
T |
C |
3: 106,676,205 (GRCm39) |
N54S |
possibly damaging |
Het |
| Cep152 |
C |
A |
2: 125,408,174 (GRCm39) |
A1390S |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,162,085 (GRCm39) |
Y19H |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,864,307 (GRCm39) |
|
probably null |
Het |
| Chrm5 |
A |
G |
2: 112,309,625 (GRCm39) |
L497P |
probably damaging |
Het |
| Colec12 |
G |
A |
18: 9,866,765 (GRCm39) |
V659M |
unknown |
Het |
| D1Pas1 |
T |
C |
1: 186,700,226 (GRCm39) |
F52L |
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,771,441 (GRCm39) |
F985L |
probably damaging |
Het |
| Dock4 |
C |
T |
12: 40,884,721 (GRCm39) |
P1742S |
probably benign |
Het |
| Ehmt2 |
G |
T |
17: 35,125,386 (GRCm39) |
V534L |
possibly damaging |
Het |
| Epcam |
A |
G |
17: 87,947,324 (GRCm39) |
D26G |
probably benign |
Het |
| F2 |
C |
T |
2: 91,459,524 (GRCm39) |
V420M |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,265,327 (GRCm39) |
D401E |
possibly damaging |
Het |
| Fiz1 |
T |
C |
7: 5,011,727 (GRCm39) |
T264A |
probably benign |
Het |
| Fsbp |
T |
C |
4: 11,583,745 (GRCm39) |
V148A |
probably benign |
Het |
| Furin |
A |
G |
7: 80,042,230 (GRCm39) |
L455P |
probably damaging |
Het |
| Ggt7 |
G |
A |
2: 155,348,395 (GRCm39) |
R10W |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,211,358 (GRCm39) |
E624G |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,923,203 (GRCm39) |
F1202S |
probably damaging |
Het |
| Ikzf1 |
C |
T |
11: 11,657,838 (GRCm39) |
P32S |
probably damaging |
Het |
| Itgal |
G |
A |
7: 126,904,453 (GRCm39) |
V309M |
probably damaging |
Het |
| Kcnk5 |
C |
A |
14: 20,191,964 (GRCm39) |
R399L |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,525,314 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,340,762 (GRCm39) |
V1038M |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,322,698 (GRCm39) |
Y1096H |
probably damaging |
Het |
| Lrrc7 |
C |
G |
3: 157,790,170 (GRCm39) |
S1465T |
possibly damaging |
Het |
| Map3k5 |
A |
G |
10: 19,979,988 (GRCm39) |
N832S |
probably damaging |
Het |
| Mrtfb |
C |
A |
16: 13,216,334 (GRCm39) |
L349I |
possibly damaging |
Het |
| Mrtfb |
T |
A |
16: 13,216,335 (GRCm39) |
L349Q |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,232,310 (GRCm39) |
M495L |
possibly damaging |
Het |
| Myh9 |
A |
C |
15: 77,697,097 (GRCm39) |
Y106D |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,588,896 (GRCm39) |
W452R |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,395,074 (GRCm39) |
S892P |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,187,906 (GRCm39) |
I939V |
probably benign |
Het |
| Oit3 |
A |
G |
10: 59,261,239 (GRCm39) |
F476S |
probably damaging |
Het |
| Or7e174 |
T |
C |
9: 20,012,883 (GRCm39) |
V276A |
probably benign |
Het |
| Panx3 |
A |
T |
9: 37,580,203 (GRCm39) |
M50K |
possibly damaging |
Het |
| Panx3 |
A |
C |
9: 37,580,242 (GRCm39) |
M37R |
possibly damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,886,631 (GRCm39) |
D68E |
probably benign |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prkaca |
T |
A |
8: 84,707,827 (GRCm39) |
D37E |
probably benign |
Het |
| Prkcq |
T |
A |
2: 11,259,010 (GRCm39) |
I310N |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,546,282 (GRCm39) |
Y235H |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,280,141 (GRCm39) |
C1052* |
probably null |
Het |
| Rad52 |
C |
A |
6: 119,892,996 (GRCm39) |
P180Q |
probably damaging |
Het |
| Sdhaf3 |
T |
A |
6: 7,038,964 (GRCm39) |
D95E |
probably benign |
Het |
| Slitrk6 |
A |
G |
14: 110,988,360 (GRCm39) |
I449T |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,630,516 (GRCm39) |
M358K |
possibly damaging |
Het |
| Tada2a |
C |
T |
11: 83,972,895 (GRCm39) |
G178D |
probably damaging |
Het |
| Tap2 |
G |
C |
17: 34,428,186 (GRCm39) |
V287L |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,869,877 (GRCm39) |
F131L |
possibly damaging |
Het |
| Traip |
A |
T |
9: 107,847,229 (GRCm39) |
K356M |
probably damaging |
Het |
| Tspan8 |
T |
A |
10: 115,679,949 (GRCm39) |
|
probably benign |
Het |
| U2surp |
A |
T |
9: 95,393,913 (GRCm39) |
M1K |
probably null |
Het |
| Vars1 |
A |
T |
17: 35,217,172 (GRCm39) |
D427E |
probably benign |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,532 (GRCm39) |
C108Y |
probably damaging |
Het |
| Vmn2r63 |
T |
A |
7: 42,577,743 (GRCm39) |
Q265L |
probably benign |
Het |
| Vps33b |
T |
A |
7: 79,937,641 (GRCm39) |
V463E |
probably damaging |
Het |
| Vrtn |
T |
C |
12: 84,695,429 (GRCm39) |
S60P |
probably benign |
Het |
| Zfp53 |
T |
A |
17: 21,729,884 (GRCm39) |
V639D |
possibly damaging |
Het |
| Zfp964 |
T |
A |
8: 70,116,800 (GRCm39) |
S466T |
possibly damaging |
Het |
|
| Other mutations in Creb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Creb3
|
APN |
4 |
43,565,517 (GRCm39) |
missense |
probably benign |
|
|
IGL02641:Creb3
|
APN |
4 |
43,563,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03101:Creb3
|
APN |
4 |
43,563,081 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03163:Creb3
|
APN |
4 |
43,566,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0014:Creb3
|
UTSW |
4 |
43,563,265 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
PIT4362001:Creb3
|
UTSW |
4 |
43,565,472 (GRCm39) |
nonsense |
probably null |
|
|
R0959:Creb3
|
UTSW |
4 |
43,563,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1506:Creb3
|
UTSW |
4 |
43,566,193 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1624:Creb3
|
UTSW |
4 |
43,566,375 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1794:Creb3
|
UTSW |
4 |
43,563,302 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1956:Creb3
|
UTSW |
4 |
43,563,279 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1991:Creb3
|
UTSW |
4 |
43,565,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2179:Creb3
|
UTSW |
4 |
43,566,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Creb3
|
UTSW |
4 |
43,565,501 (GRCm39) |
nonsense |
probably null |
|
|
R4673:Creb3
|
UTSW |
4 |
43,563,192 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4713:Creb3
|
UTSW |
4 |
43,563,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5613:Creb3
|
UTSW |
4 |
43,566,196 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6195:Creb3
|
UTSW |
4 |
43,566,346 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7673:Creb3
|
UTSW |
4 |
43,563,117 (GRCm39) |
missense |
not run |
|
|
R7829:Creb3
|
UTSW |
4 |
43,566,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7872:Creb3
|
UTSW |
4 |
43,563,332 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8726:Creb3
|
UTSW |
4 |
43,566,747 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9477:Creb3
|
UTSW |
4 |
43,566,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Creb3
|
UTSW |
4 |
43,563,191 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9706:Creb3
|
UTSW |
4 |
43,565,520 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCCGAAGCCATCTGCTCTATC -3'
(R):5'- TCTCCAAATCTATTCACGGGGCAAC -3'
Sequencing Primer
(F):5'- AAGCCATCTGCTCTATCGTCAG -3'
(R):5'- TCTATTCACGGGGCAACAGATAC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation