Incidental Mutation 'R5147:Cgref1'
ID |
395146 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cgref1
|
Ensembl Gene |
ENSMUSG00000029161 |
Gene Name |
cell growth regulator with EF hand domain 1 |
Synonyms |
CGR11, 1110004G24Rik |
MMRRC Submission |
042731-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5147 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31090487-31102771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 31091049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 255
(G255E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031051]
[ENSMUST00000031053]
[ENSMUST00000201571]
[ENSMUST00000201621]
[ENSMUST00000202752]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031051
AA Change: G255E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000031051 Gene: ENSMUSG00000029161 AA Change: G255E
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
SCOP:d2pvba_
|
113 |
188 |
1e-4 |
SMART |
Blast:EFh
|
120 |
148 |
1e-9 |
BLAST |
Blast:EFh
|
164 |
189 |
4e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000031053
|
SMART Domains |
Protein: ENSMUSP00000031053 Gene: ENSMUSG00000029162
Domain | Start | End | E-Value | Type |
Pfam:PfkB
|
3 |
293 |
5.7e-36 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200978
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201571
|
SMART Domains |
Protein: ENSMUSP00000144226 Gene: ENSMUSG00000029162
Domain | Start | End | E-Value | Type |
Pfam:PfkB
|
3 |
70 |
2.4e-5 |
PFAM |
Pfam:PfkB
|
65 |
249 |
4.5e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201621
|
SMART Domains |
Protein: ENSMUSP00000144050 Gene: ENSMUSG00000029162
Domain | Start | End | E-Value | Type |
Pfam:PfkB
|
3 |
294 |
1.5e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202627
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202752
|
SMART Domains |
Protein: ENSMUSP00000143850 Gene: ENSMUSG00000029162
Domain | Start | End | E-Value | Type |
Pfam:PfkB
|
3 |
243 |
5.8e-18 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,851,149 (GRCm39) |
Y2121H |
probably benign |
Het |
Adgrf2 |
A |
G |
17: 43,021,574 (GRCm39) |
Y417H |
probably damaging |
Het |
Ap5z1 |
A |
C |
5: 142,452,265 (GRCm39) |
D66A |
probably benign |
Het |
Cachd1 |
T |
A |
4: 100,821,688 (GRCm39) |
Y422N |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,773,700 (GRCm39) |
G114D |
probably benign |
Het |
Cyp2a22 |
A |
C |
7: 26,635,750 (GRCm39) |
L271R |
probably damaging |
Het |
Dcp2 |
G |
T |
18: 44,550,662 (GRCm39) |
E379* |
probably null |
Het |
Fhl3 |
T |
A |
4: 124,601,724 (GRCm39) |
D277E |
probably benign |
Het |
Gm19684 |
C |
T |
17: 36,439,411 (GRCm39) |
V190M |
probably damaging |
Het |
Hpse |
T |
C |
5: 100,867,375 (GRCm39) |
D29G |
probably benign |
Het |
Il31 |
T |
C |
5: 123,620,121 (GRCm39) |
|
probably benign |
Het |
Ilk |
T |
C |
7: 105,391,774 (GRCm39) |
C422R |
possibly damaging |
Het |
Itga1 |
T |
G |
13: 115,121,678 (GRCm39) |
D777A |
possibly damaging |
Het |
Kank3 |
A |
G |
17: 34,041,176 (GRCm39) |
D556G |
probably damaging |
Het |
Lrit3 |
A |
G |
3: 129,597,574 (GRCm39) |
S36P |
possibly damaging |
Het |
Magi1 |
C |
T |
6: 93,724,248 (GRCm39) |
E256K |
probably damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Mymk |
C |
T |
2: 26,952,299 (GRCm39) |
M148I |
probably benign |
Het |
Nlrp12 |
T |
A |
7: 3,290,003 (GRCm39) |
I170F |
possibly damaging |
Het |
Odad3 |
T |
C |
9: 21,906,158 (GRCm39) |
E260G |
probably benign |
Het |
Or5al7 |
A |
T |
2: 85,992,378 (GRCm39) |
I305K |
possibly damaging |
Het |
Or5an11 |
T |
A |
19: 12,246,268 (GRCm39) |
S225T |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,799,003 (GRCm39) |
T1803I |
possibly damaging |
Het |
Ppp2r2b |
C |
T |
18: 42,778,942 (GRCm39) |
V398I |
probably benign |
Het |
Ppp2r5e |
T |
A |
12: 75,516,544 (GRCm39) |
R214S |
probably damaging |
Het |
Prss16 |
T |
C |
13: 22,190,264 (GRCm39) |
D298G |
possibly damaging |
Het |
Qprt |
G |
A |
7: 126,707,622 (GRCm39) |
R189W |
probably damaging |
Het |
Rara |
C |
T |
11: 98,841,550 (GRCm39) |
S36F |
probably benign |
Het |
Rasal2 |
A |
G |
1: 157,003,264 (GRCm39) |
V465A |
probably damaging |
Het |
Slc22a1 |
C |
T |
17: 12,869,838 (GRCm39) |
G508R |
probably damaging |
Het |
Slco2a1 |
C |
A |
9: 102,927,468 (GRCm39) |
F120L |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,062,340 (GRCm39) |
L864* |
probably null |
Het |
Tssk4 |
A |
G |
14: 55,888,430 (GRCm39) |
I100V |
possibly damaging |
Het |
Vgll4 |
A |
G |
6: 114,867,576 (GRCm39) |
|
probably null |
Het |
Vmn1r65 |
T |
G |
7: 6,011,818 (GRCm39) |
I139L |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,456,824 (GRCm39) |
P757S |
probably benign |
Het |
Ythdc2 |
G |
A |
18: 44,977,359 (GRCm39) |
G385E |
probably damaging |
Het |
|
Other mutations in Cgref1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02541:Cgref1
|
APN |
5 |
31,091,502 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02572:Cgref1
|
APN |
5 |
31,090,911 (GRCm39) |
missense |
probably benign |
|
IGL03036:Cgref1
|
APN |
5 |
31,090,937 (GRCm39) |
missense |
probably damaging |
0.96 |
FR4304:Cgref1
|
UTSW |
5 |
31,091,124 (GRCm39) |
unclassified |
probably benign |
|
FR4449:Cgref1
|
UTSW |
5 |
31,091,122 (GRCm39) |
nonsense |
probably null |
|
FR4449:Cgref1
|
UTSW |
5 |
31,091,120 (GRCm39) |
unclassified |
probably benign |
|
R1340:Cgref1
|
UTSW |
5 |
31,102,690 (GRCm39) |
splice site |
probably benign |
|
R1463:Cgref1
|
UTSW |
5 |
31,093,338 (GRCm39) |
unclassified |
probably benign |
|
R1551:Cgref1
|
UTSW |
5 |
31,090,929 (GRCm39) |
missense |
probably benign |
0.03 |
R2059:Cgref1
|
UTSW |
5 |
31,090,989 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6059:Cgref1
|
UTSW |
5 |
31,102,728 (GRCm39) |
missense |
probably damaging |
0.99 |
R7501:Cgref1
|
UTSW |
5 |
31,102,800 (GRCm39) |
missense |
probably damaging |
0.99 |
R7542:Cgref1
|
UTSW |
5 |
31,090,937 (GRCm39) |
missense |
probably damaging |
0.96 |
R8137:Cgref1
|
UTSW |
5 |
31,091,749 (GRCm39) |
missense |
possibly damaging |
0.93 |
RF064:Cgref1
|
UTSW |
5 |
31,091,118 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAGCCTCAGCCTCATTTGG -3'
(R):5'- TGCAGAGCTCATCAACTTCC -3'
Sequencing Primer
(F):5'- CCTCAGCCTCATTTGGAGTGTTTAG -3'
(R):5'- GAGCTCATCAACTTCCCAGAAG -3'
|
Posted On |
2016-06-21 |