Incidental Mutation 'IGL00490:Crebrf'
| ID |
9888 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crebrf
|
| Ensembl Gene |
ENSMUSG00000048249 |
| Gene Name |
CREB3 regulatory factor |
| Synonyms |
A930001N09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.498)
|
| Stock # |
IGL00490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26934624-26995609 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26962067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 388
(D388G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062519]
[ENSMUST00000142539]
[ENSMUST00000144221]
[ENSMUST00000151681]
|
| AlphaFold |
Q8CDG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062519
AA Change: D396G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000059102
Gene: ENSMUSG00000048249
AA Change: D396G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
317 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
407 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
520 |
584 |
3e-35 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132972
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142539
AA Change: D388G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114274
Gene: ENSMUSG00000048249
AA Change: D388G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
309 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
399 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
512 |
576 |
3e-35 |
BLAST |
|
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144221
|
| SMART Domains |
Protein: ENSMUSP00000120212
Gene: ENSMUSG00000048249
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
317 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151681
|
| SMART Domains |
Protein: ENSMUSP00000119186
Gene: ENSMUSG00000048249
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRLZ
|
100 |
137 |
2e-18 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired social recognition, increased vertical and horizontal activity, abnormal maternal nurturing, decreased prolactin and corticosterone serum levels, and abnormal mammary gland growth during lactation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
A |
G |
4: 129,905,665 (GRCm39) |
E837G |
possibly damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,171,172 (GRCm39) |
M291T |
probably benign |
Het |
| Coq8b |
C |
A |
7: 26,956,902 (GRCm39) |
H518Q |
probably benign |
Het |
| Cyp2d10 |
A |
T |
15: 82,287,515 (GRCm39) |
S244T |
possibly damaging |
Het |
| Ddr2 |
A |
T |
1: 169,832,763 (GRCm39) |
L99H |
probably damaging |
Het |
| Dennd1a |
G |
T |
2: 37,691,164 (GRCm39) |
D251E |
probably damaging |
Het |
| Fam210a |
G |
T |
18: 68,401,983 (GRCm39) |
T210N |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,364,572 (GRCm39) |
Q951K |
probably damaging |
Het |
| Gramd1b |
T |
A |
9: 40,221,337 (GRCm39) |
I280F |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,731,526 (GRCm39) |
K335N |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,518,770 (GRCm39) |
T993S |
possibly damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,747,413 (GRCm39) |
L484P |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,877,423 (GRCm39) |
V358E |
unknown |
Het |
| Mzt1 |
A |
G |
14: 99,278,106 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
C |
A |
19: 6,523,623 (GRCm39) |
H514Q |
possibly damaging |
Het |
| Nup214 |
G |
A |
2: 31,923,991 (GRCm39) |
E2K |
probably damaging |
Het |
| Pcdhb4 |
G |
T |
18: 37,442,969 (GRCm39) |
G760W |
possibly damaging |
Het |
| Ptger2 |
T |
C |
14: 45,239,198 (GRCm39) |
|
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,669,458 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,740,621 (GRCm39) |
D46E |
probably damaging |
Het |
| Tbc1d32 |
G |
A |
10: 56,031,861 (GRCm39) |
P689L |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 51,070,930 (GRCm39) |
W2123L |
probably damaging |
Het |
| Thg1l |
T |
C |
11: 45,845,048 (GRCm39) |
E8G |
probably benign |
Het |
| Tmem236 |
A |
G |
2: 14,224,189 (GRCm39) |
Y326C |
probably damaging |
Het |
| Trip4 |
C |
T |
9: 65,740,692 (GRCm39) |
G573R |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,762,035 (GRCm39) |
T2320I |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,816 (GRCm39) |
N435S |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,921,858 (GRCm39) |
N77D |
probably damaging |
Het |
| Uvrag |
A |
T |
7: 98,628,948 (GRCm39) |
I373N |
probably damaging |
Het |
|
| Other mutations in Crebrf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03106:Crebrf
|
APN |
17 |
26,990,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Crebrf
|
UTSW |
17 |
26,982,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Crebrf
|
UTSW |
17 |
26,982,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Crebrf
|
UTSW |
17 |
26,958,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0448:Crebrf
|
UTSW |
17 |
26,962,076 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1268:Crebrf
|
UTSW |
17 |
26,958,570 (GRCm39) |
frame shift |
probably null |
|
|
R1857:Crebrf
|
UTSW |
17 |
26,961,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1858:Crebrf
|
UTSW |
17 |
26,961,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1937:Crebrf
|
UTSW |
17 |
26,961,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Crebrf
|
UTSW |
17 |
26,961,857 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2006:Crebrf
|
UTSW |
17 |
26,961,857 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2031:Crebrf
|
UTSW |
17 |
26,961,895 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2323:Crebrf
|
UTSW |
17 |
26,982,581 (GRCm39) |
unclassified |
probably benign |
|
|
R2352:Crebrf
|
UTSW |
17 |
26,961,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Crebrf
|
UTSW |
17 |
26,961,938 (GRCm39) |
missense |
probably benign |
|
|
R4511:Crebrf
|
UTSW |
17 |
26,961,938 (GRCm39) |
missense |
probably benign |
|
|
R4585:Crebrf
|
UTSW |
17 |
26,981,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Crebrf
|
UTSW |
17 |
26,962,035 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4896:Crebrf
|
UTSW |
17 |
26,961,394 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5227:Crebrf
|
UTSW |
17 |
26,978,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5377:Crebrf
|
UTSW |
17 |
26,978,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5443:Crebrf
|
UTSW |
17 |
26,961,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5540:Crebrf
|
UTSW |
17 |
26,961,071 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6017:Crebrf
|
UTSW |
17 |
26,976,823 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6132:Crebrf
|
UTSW |
17 |
26,982,377 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7464:Crebrf
|
UTSW |
17 |
26,982,461 (GRCm39) |
missense |
unknown |
|
|
R7956:Crebrf
|
UTSW |
17 |
26,961,631 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8378:Crebrf
|
UTSW |
17 |
26,981,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Crebrf
|
UTSW |
17 |
26,961,520 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8916:Crebrf
|
UTSW |
17 |
26,958,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9355:Crebrf
|
UTSW |
17 |
26,962,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9687:Crebrf
|
UTSW |
17 |
26,982,601 (GRCm39) |
makesense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation