Incidental Mutation 'R5953:Asns'
ID |
470998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asns
|
Ensembl Gene |
ENSMUSG00000029752 |
Gene Name |
asparagine synthetase |
Synonyms |
|
MMRRC Submission |
043245-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
R5953 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
7675169-7693209 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 7682285 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 220
(E220G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115415
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031766]
[ENSMUST00000115542]
[ENSMUST00000126303]
[ENSMUST00000139596]
[ENSMUST00000148349]
|
AlphaFold |
Q61024 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031766
AA Change: E220G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031766 Gene: ENSMUSG00000029752 AA Change: E220G
Domain | Start | End | E-Value | Type |
Pfam:GATase_6
|
29 |
160 |
4.3e-21 |
PFAM |
Pfam:GATase_7
|
47 |
166 |
9.1e-26 |
PFAM |
Pfam:DUF3700
|
68 |
178 |
5.5e-6 |
PFAM |
Pfam:GATase_2
|
91 |
161 |
3.3e-5 |
PFAM |
Pfam:Asn_synthase
|
234 |
467 |
1.7e-61 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115542
AA Change: E220G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111204 Gene: ENSMUSG00000029752 AA Change: E220G
Domain | Start | End | E-Value | Type |
Pfam:GATase_6
|
29 |
160 |
1.2e-19 |
PFAM |
Pfam:GATase_7
|
47 |
166 |
4.8e-25 |
PFAM |
Pfam:DUF3700
|
64 |
180 |
3.3e-6 |
PFAM |
Pfam:Asn_synthase
|
234 |
390 |
2.4e-46 |
PFAM |
Pfam:Asn_synthase
|
382 |
547 |
1.5e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126303
AA Change: E220G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000115415 Gene: ENSMUSG00000029752 AA Change: E220G
Domain | Start | End | E-Value | Type |
Pfam:GATase_6
|
28 |
160 |
1.3e-24 |
PFAM |
Pfam:GATase_7
|
47 |
166 |
3.1e-29 |
PFAM |
Pfam:DUF3700
|
67 |
180 |
6.3e-10 |
PFAM |
Pfam:GATase_2
|
89 |
161 |
1.4e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133972
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139596
|
SMART Domains |
Protein: ENSMUSP00000120489 Gene: ENSMUSG00000029752
Domain | Start | End | E-Value | Type |
Pfam:GATase_6
|
26 |
157 |
7e-25 |
PFAM |
Pfam:GATase_7
|
47 |
157 |
1e-27 |
PFAM |
Pfam:DUF3700
|
66 |
158 |
5.7e-9 |
PFAM |
Pfam:GATase_2
|
89 |
158 |
1.8e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140097
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148349
|
SMART Domains |
Protein: ENSMUSP00000118003 Gene: ENSMUSG00000029752
Domain | Start | End | E-Value | Type |
Pfam:GATase_6
|
24 |
127 |
1.4e-17 |
PFAM |
Pfam:GATase_7
|
47 |
127 |
2.6e-18 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for a hypomophic allele exhibit structural brain abnormalities, including enlarged ventricles and reduced cortical thickness, and deficits in short- and long-term memory. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
A |
7: 119,960,241 (GRCm39) |
S675T |
probably damaging |
Het |
Acvr2a |
T |
C |
2: 48,780,416 (GRCm39) |
L212P |
probably damaging |
Het |
Adamts14 |
T |
C |
10: 61,043,225 (GRCm39) |
T751A |
probably damaging |
Het |
Adgrf2 |
T |
C |
17: 43,021,229 (GRCm39) |
N532D |
probably damaging |
Het |
Cd209d |
A |
T |
8: 3,927,979 (GRCm39) |
|
probably null |
Het |
Cenpp |
T |
C |
13: 49,806,161 (GRCm39) |
D2G |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Clec4a3 |
G |
T |
6: 122,946,451 (GRCm39) |
V232L |
probably benign |
Het |
Cntln |
C |
T |
4: 84,968,156 (GRCm39) |
H792Y |
possibly damaging |
Het |
Cobl |
T |
A |
11: 12,206,220 (GRCm39) |
T470S |
probably benign |
Het |
Cym |
T |
A |
3: 107,120,783 (GRCm39) |
D274V |
probably damaging |
Het |
Elac2 |
G |
A |
11: 64,890,049 (GRCm39) |
C627Y |
probably benign |
Het |
Emc7 |
T |
A |
2: 112,289,903 (GRCm39) |
I111N |
probably damaging |
Het |
Eya4 |
T |
A |
10: 23,027,871 (GRCm39) |
Y310F |
probably damaging |
Het |
Fam217b |
C |
T |
2: 178,062,153 (GRCm39) |
S39F |
probably damaging |
Het |
Fam234b |
G |
T |
6: 135,202,705 (GRCm39) |
R353L |
possibly damaging |
Het |
Focad |
A |
G |
4: 88,147,572 (GRCm39) |
I404V |
probably benign |
Het |
Il1rl1 |
T |
A |
1: 40,481,833 (GRCm39) |
D180E |
probably benign |
Het |
Il2rb |
A |
T |
15: 78,369,182 (GRCm39) |
C256* |
probably null |
Het |
Intu |
A |
C |
3: 40,633,980 (GRCm39) |
L404F |
probably damaging |
Het |
Jmy |
G |
A |
13: 93,635,624 (GRCm39) |
T64M |
possibly damaging |
Het |
Mpl |
C |
A |
4: 118,311,707 (GRCm39) |
S302I |
possibly damaging |
Het |
Mpl |
T |
A |
4: 118,311,708 (GRCm39) |
S302C |
probably damaging |
Het |
Muc2 |
G |
T |
7: 141,287,951 (GRCm39) |
D241Y |
probably damaging |
Het |
Nlrp3 |
C |
T |
11: 59,437,617 (GRCm39) |
H99Y |
probably benign |
Het |
Or5b118 |
A |
T |
19: 13,448,732 (GRCm39) |
I133F |
possibly damaging |
Het |
Or6c216 |
C |
G |
10: 129,678,483 (GRCm39) |
V143L |
probably benign |
Het |
Pglyrp1 |
A |
T |
7: 18,624,238 (GRCm39) |
I174F |
probably damaging |
Het |
Pi4ka |
A |
T |
16: 17,099,815 (GRCm39) |
I1936N |
|
Het |
Plekhm3 |
C |
T |
1: 64,977,054 (GRCm39) |
E139K |
probably damaging |
Het |
Pomk |
C |
A |
8: 26,473,076 (GRCm39) |
L292F |
probably damaging |
Het |
Ptpru |
A |
G |
4: 131,504,148 (GRCm39) |
I1103T |
probably damaging |
Het |
Pygl |
T |
C |
12: 70,266,401 (GRCm39) |
D38G |
probably damaging |
Het |
Rapsn |
T |
C |
2: 90,872,308 (GRCm39) |
V214A |
probably benign |
Het |
S100a9 |
T |
A |
3: 90,600,234 (GRCm39) |
K54M |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,684,570 (GRCm39) |
Y1964H |
probably damaging |
Het |
Slc17a5 |
T |
C |
9: 78,464,780 (GRCm39) |
N331S |
probably damaging |
Het |
Snx9 |
T |
A |
17: 5,958,677 (GRCm39) |
C252S |
probably damaging |
Het |
Snx9 |
G |
T |
17: 5,958,678 (GRCm39) |
C252F |
probably damaging |
Het |
Trem1 |
A |
T |
17: 48,544,220 (GRCm39) |
M82L |
probably benign |
Het |
|
Other mutations in Asns |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00264:Asns
|
APN |
6 |
7,680,179 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00656:Asns
|
APN |
6 |
7,680,215 (GRCm39) |
unclassified |
probably benign |
|
IGL01534:Asns
|
APN |
6 |
7,675,397 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01996:Asns
|
APN |
6 |
7,682,378 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02058:Asns
|
APN |
6 |
7,685,184 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02311:Asns
|
APN |
6 |
7,676,233 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02367:Asns
|
APN |
6 |
7,685,411 (GRCm39) |
splice site |
probably benign |
|
IGL03263:Asns
|
APN |
6 |
7,689,404 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03341:Asns
|
APN |
6 |
7,682,002 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4445001:Asns
|
UTSW |
6 |
7,689,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Asns
|
UTSW |
6 |
7,676,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Asns
|
UTSW |
6 |
7,676,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R0050:Asns
|
UTSW |
6 |
7,676,019 (GRCm39) |
missense |
probably benign |
0.02 |
R0627:Asns
|
UTSW |
6 |
7,675,516 (GRCm39) |
missense |
probably benign |
0.05 |
R1075:Asns
|
UTSW |
6 |
7,676,076 (GRCm39) |
nonsense |
probably null |
|
R1591:Asns
|
UTSW |
6 |
7,678,007 (GRCm39) |
missense |
probably damaging |
0.97 |
R2047:Asns
|
UTSW |
6 |
7,680,093 (GRCm39) |
missense |
probably damaging |
0.99 |
R2232:Asns
|
UTSW |
6 |
7,689,316 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2907:Asns
|
UTSW |
6 |
7,675,506 (GRCm39) |
missense |
probably benign |
0.03 |
R3907:Asns
|
UTSW |
6 |
7,682,270 (GRCm39) |
critical splice donor site |
probably null |
|
R4373:Asns
|
UTSW |
6 |
7,677,978 (GRCm39) |
missense |
probably damaging |
0.98 |
R4438:Asns
|
UTSW |
6 |
7,675,320 (GRCm39) |
missense |
probably benign |
0.15 |
R4660:Asns
|
UTSW |
6 |
7,678,012 (GRCm39) |
missense |
probably benign |
0.05 |
R4784:Asns
|
UTSW |
6 |
7,678,029 (GRCm39) |
missense |
probably benign |
0.12 |
R5655:Asns
|
UTSW |
6 |
7,685,309 (GRCm39) |
missense |
probably benign |
0.31 |
R5752:Asns
|
UTSW |
6 |
7,689,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R5863:Asns
|
UTSW |
6 |
7,675,443 (GRCm39) |
nonsense |
probably null |
|
R5864:Asns
|
UTSW |
6 |
7,675,443 (GRCm39) |
nonsense |
probably null |
|
R6773:Asns
|
UTSW |
6 |
7,676,284 (GRCm39) |
missense |
probably benign |
0.01 |
R6789:Asns
|
UTSW |
6 |
7,675,344 (GRCm39) |
missense |
probably benign |
|
R7389:Asns
|
UTSW |
6 |
7,689,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Asns
|
UTSW |
6 |
7,677,259 (GRCm39) |
splice site |
probably null |
|
R7783:Asns
|
UTSW |
6 |
7,677,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R7949:Asns
|
UTSW |
6 |
7,685,328 (GRCm39) |
missense |
probably damaging |
0.97 |
R8722:Asns
|
UTSW |
6 |
7,676,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R9405:Asns
|
UTSW |
6 |
7,689,283 (GRCm39) |
missense |
probably damaging |
0.99 |
R9663:Asns
|
UTSW |
6 |
7,680,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R9697:Asns
|
UTSW |
6 |
7,689,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R9798:Asns
|
UTSW |
6 |
7,689,395 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGATGAGGCAAGCAGTCTAC -3'
(R):5'- AGAAGCACCTAATTGCATACGTTG -3'
Sequencing Primer
(F):5'- GGCAAGCAGTCTACTACATCATTGTG -3'
(R):5'- ACGTTGCTGTTTTCCATTTATAGGC -3'
|
Posted On |
2017-03-31 |