Incidental Mutation 'R2447:Gm4952'
| ID |
248911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4952
|
| Ensembl Gene |
ENSMUSG00000071633 |
| Gene Name |
predicted gene 4952 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2447 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12577348-12604980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12595770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 53
(N53K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092931]
[ENSMUST00000181868]
|
| AlphaFold |
Q5FW57 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092931
AA Change: N53K
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090607
Gene: ENSMUSG00000071633
AA Change: N53K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gly_acyl_tr_N
|
1 |
206 |
2.6e-90 |
PFAM |
|
Pfam:Gly_acyl_tr_C
|
207 |
295 |
2.7e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181868
AA Change: N53K
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137934
Gene: ENSMUSG00000071633
AA Change: N53K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gly_acyl_tr_N
|
1 |
206 |
3.7e-112 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Foxo3 |
T |
C |
10: 42,073,816 (GRCm39) |
I15V |
probably benign |
Het |
| Gm12888 |
A |
T |
4: 121,175,547 (GRCm39) |
D78E |
possibly damaging |
Het |
| Hrg |
A |
T |
16: 22,779,898 (GRCm39) |
|
probably benign |
Het |
| Mta3 |
C |
T |
17: 84,111,973 (GRCm39) |
T567I |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Panx1 |
A |
G |
9: 14,956,185 (GRCm39) |
I50T |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,102,995 (GRCm39) |
F1114L |
probably benign |
Het |
| Phf6 |
C |
G |
X: 52,042,435 (GRCm39) |
Q279E |
probably benign |
Het |
| Phip |
A |
G |
9: 82,797,452 (GRCm39) |
V517A |
probably damaging |
Het |
| Psmb5 |
C |
T |
14: 54,851,927 (GRCm39) |
V86I |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,114,666 (GRCm39) |
|
probably benign |
Het |
| Sfmbt1 |
A |
G |
14: 30,495,850 (GRCm39) |
I44M |
possibly damaging |
Het |
| Tmem89 |
A |
T |
9: 108,743,868 (GRCm39) |
D56V |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tshz3 |
T |
A |
7: 36,468,178 (GRCm39) |
C56S |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,778,284 (GRCm39) |
A1322S |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,833,724 (GRCm39) |
H188Y |
probably damaging |
Het |
|
| Other mutations in Gm4952 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Gm4952
|
APN |
19 |
12,595,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Gm4952
|
APN |
19 |
12,600,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01542:Gm4952
|
APN |
19 |
12,595,771 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01714:Gm4952
|
APN |
19 |
12,602,075 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02339:Gm4952
|
APN |
19 |
12,604,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03068:Gm4952
|
APN |
19 |
12,601,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03100:Gm4952
|
APN |
19 |
12,602,083 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03274:Gm4952
|
APN |
19 |
12,600,960 (GRCm39) |
splice site |
probably benign |
|
|
IGL03295:Gm4952
|
APN |
19 |
12,595,691 (GRCm39) |
missense |
probably benign |
0.39 |
|
PIT4520001:Gm4952
|
UTSW |
19 |
12,602,048 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0604:Gm4952
|
UTSW |
19 |
12,602,036 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1221:Gm4952
|
UTSW |
19 |
12,601,059 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1513:Gm4952
|
UTSW |
19 |
12,602,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1514:Gm4952
|
UTSW |
19 |
12,604,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:Gm4952
|
UTSW |
19 |
12,595,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1928:Gm4952
|
UTSW |
19 |
12,600,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4930:Gm4952
|
UTSW |
19 |
12,604,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5360:Gm4952
|
UTSW |
19 |
12,600,993 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5704:Gm4952
|
UTSW |
19 |
12,604,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Gm4952
|
UTSW |
19 |
12,595,771 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7332:Gm4952
|
UTSW |
19 |
12,604,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7420:Gm4952
|
UTSW |
19 |
12,604,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Gm4952
|
UTSW |
19 |
12,604,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9573:Gm4952
|
UTSW |
19 |
12,604,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTCATGCCCACTAATTTCATAG -3'
(R):5'- GTGAGGCACCATTTAATCCACTTAC -3'
Sequencing Primer
(F):5'- TGCCCACTAATTTCATAGAAATCAAC -3'
(R):5'- CCATTTAGAGTCCATGTGCTAATC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation