Incidental Mutation 'R6679:Creb5'
| ID |
527386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creb5
|
| Ensembl Gene |
ENSMUSG00000053007 |
| Gene Name |
cAMP responsive element binding protein 5 |
| Synonyms |
D430026C09Rik, Crebpa, 9430076C15Rik |
| MMRRC Submission |
044798-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6679 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
53264255-53677361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 53662454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 250
(M250I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047450]
[ENSMUST00000203487]
[ENSMUST00000203528]
[ENSMUST00000205120]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047450
AA Change: M394I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000038532
Gene: ENSMUSG00000053007
AA Change: M394I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
211 |
N/A |
INTRINSIC |
|
BRLZ
|
222 |
286 |
1.91e-20 |
SMART |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203487
AA Change: M401I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000144851
Gene: ENSMUSG00000053007
AA Change: M401I
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
16 |
40 |
7.9e-5 |
SMART |
|
low complexity region
|
268 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
BRLZ
|
373 |
437 |
8e-23 |
SMART |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
495 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203528
AA Change: M394I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000144979
Gene: ENSMUSG00000053007
AA Change: M394I
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
9 |
33 |
7.9e-5 |
SMART |
|
low complexity region
|
261 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
BRLZ
|
366 |
430 |
8e-23 |
SMART |
|
low complexity region
|
448 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
488 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205120
AA Change: M250I
PolyPhen 2
Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144719
Gene: ENSMUSG00000053007
AA Change: M250I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
211 |
N/A |
INTRINSIC |
|
BRLZ
|
222 |
286 |
1.91e-20 |
SMART |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
344 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0737 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
91% (40/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,750 (GRCm39) |
V299E |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,170,377 (GRCm39) |
I767V |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,739,410 (GRCm39) |
T748I |
probably damaging |
Het |
| Aoc3 |
T |
A |
11: 101,222,279 (GRCm39) |
L129M |
probably damaging |
Het |
| Arhgef7 |
T |
A |
8: 11,874,667 (GRCm39) |
M540K |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,974,009 (GRCm39) |
K2435M |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,946,368 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dock10 |
A |
G |
1: 80,544,514 (GRCm39) |
I557T |
probably benign |
Het |
| Efcab2 |
G |
A |
1: 178,264,969 (GRCm39) |
A12T |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,344,474 (GRCm39) |
N245D |
probably benign |
Het |
| Erich3 |
T |
A |
3: 154,468,066 (GRCm39) |
D839E |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,620,075 (GRCm39) |
T270A |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,200,131 (GRCm39) |
L981Q |
probably damaging |
Het |
| Fgfrl1 |
G |
A |
5: 108,852,838 (GRCm39) |
W89* |
probably null |
Het |
| Fgfrl1 |
G |
T |
5: 108,852,839 (GRCm39) |
W89C |
probably damaging |
Het |
| Gm10770 |
G |
A |
2: 150,021,569 (GRCm39) |
P11S |
probably damaging |
Het |
| Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,077,986 (GRCm39) |
V190A |
possibly damaging |
Het |
| Htr1a |
A |
G |
13: 105,581,936 (GRCm39) |
N392S |
probably damaging |
Het |
| Ift43 |
A |
G |
12: 86,185,592 (GRCm39) |
M59V |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,699,014 (GRCm39) |
T482A |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,875,140 (GRCm39) |
|
probably null |
Het |
| Or5h26 |
A |
G |
16: 58,988,209 (GRCm39) |
I99T |
probably benign |
Het |
| Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
| Plec |
A |
G |
15: 76,058,015 (GRCm39) |
F3996S |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,237,417 (GRCm39) |
Y961N |
probably damaging |
Het |
| Rag1 |
G |
A |
2: 101,474,629 (GRCm39) |
P171L |
probably damaging |
Het |
| Rbm24 |
A |
T |
13: 46,572,468 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rxfp3 |
T |
C |
15: 11,035,956 (GRCm39) |
Y472C |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,615,949 (GRCm39) |
I638F |
probably damaging |
Het |
| Sh3glb2 |
G |
A |
2: 30,240,631 (GRCm39) |
R145W |
probably damaging |
Het |
| Ston2 |
G |
T |
12: 91,614,870 (GRCm39) |
P513T |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 178,022,721 (GRCm39) |
M470T |
probably damaging |
Het |
| Syt10 |
C |
A |
15: 89,698,574 (GRCm39) |
D257Y |
probably damaging |
Het |
| Tcfl5 |
G |
T |
2: 180,277,055 (GRCm39) |
L447I |
probably damaging |
Het |
| Tlr11 |
T |
C |
14: 50,600,311 (GRCm39) |
W766R |
probably benign |
Het |
| Usp33 |
T |
A |
3: 152,074,124 (GRCm39) |
D19E |
possibly damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,868 (GRCm39) |
Y253* |
probably null |
Het |
| Wdr55 |
G |
A |
18: 36,896,177 (GRCm39) |
G289D |
probably damaging |
Het |
| Zfp523 |
C |
T |
17: 28,421,194 (GRCm39) |
T235M |
probably damaging |
Het |
|
| Other mutations in Creb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02114:Creb5
|
APN |
6 |
53,581,443 (GRCm39) |
splice site |
probably benign |
|
|
IGL02475:Creb5
|
APN |
6 |
53,670,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02663:Creb5
|
APN |
6 |
53,657,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0054:Creb5
|
UTSW |
6 |
53,424,642 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0452:Creb5
|
UTSW |
6 |
53,581,527 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4580:Creb5
|
UTSW |
6 |
53,581,519 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4809:Creb5
|
UTSW |
6 |
53,587,411 (GRCm39) |
missense |
probably null |
0.71 |
|
R4957:Creb5
|
UTSW |
6 |
53,670,907 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5375:Creb5
|
UTSW |
6 |
53,658,002 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6552:Creb5
|
UTSW |
6 |
53,662,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6616:Creb5
|
UTSW |
6 |
53,662,295 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6745:Creb5
|
UTSW |
6 |
53,581,517 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7428:Creb5
|
UTSW |
6 |
53,658,143 (GRCm39) |
missense |
unknown |
|
|
R7581:Creb5
|
UTSW |
6 |
53,658,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8301:Creb5
|
UTSW |
6 |
53,658,018 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9574:Creb5
|
UTSW |
6 |
53,658,039 (GRCm39) |
missense |
unknown |
|
|
X0065:Creb5
|
UTSW |
6 |
53,662,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTTCACCAGCTACACAACAG -3'
(R):5'- CATCCCTCATCTCTAGTGGGAG -3'
Sequencing Primer
(F):5'- GCTACACAACAGATGCAGC -3'
(R):5'- GGTACCGAACTACTTAATGATGCTGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation