Incidental Mutation 'R9798:Asns'
| ID |
735048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asns
|
| Ensembl Gene |
ENSMUSG00000029752 |
| Gene Name |
asparagine synthetase |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
R9798 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
7675169-7693209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7689395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 36
(N36D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031766]
[ENSMUST00000115542]
[ENSMUST00000126303]
[ENSMUST00000139596]
[ENSMUST00000148349]
|
| AlphaFold |
Q61024 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031766
AA Change: N36D
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
AA Change: N36D
| 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 |
possibly damaging
Transcript: ENSMUST00000115542
AA Change: N36D
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
AA Change: N36D
| 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 |
possibly damaging
Transcript: ENSMUST00000126303
AA Change: N36D
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115415
Gene: ENSMUSG00000029752
AA Change: N36D
| 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 |
possibly damaging
Transcript: ENSMUST00000139596
AA Change: N36D
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120489
Gene: ENSMUSG00000029752
AA Change: N36D
| 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 |
possibly damaging
Transcript: ENSMUST00000148349
AA Change: N36D
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118003
Gene: ENSMUSG00000029752
AA Change: N36D
| 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: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 61,000,934 (GRCm39) |
S201T |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,074,927 (GRCm39) |
D98G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,990,983 (GRCm39) |
D4089G |
probably damaging |
Het |
| Alpk3 |
T |
A |
7: 80,742,400 (GRCm39) |
M739K |
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,652,439 (GRCm39) |
M338K |
probably benign |
Het |
| Bbx |
T |
C |
16: 50,045,121 (GRCm39) |
D480G |
probably damaging |
Het |
| Cc2d2b |
G |
A |
19: 40,783,080 (GRCm39) |
V626I |
unknown |
Het |
| Celsr3 |
A |
T |
9: 108,705,794 (GRCm39) |
D759V |
probably damaging |
Het |
| Entpd1 |
G |
A |
19: 40,715,789 (GRCm39) |
V319M |
possibly damaging |
Het |
| Espnl |
G |
T |
1: 91,251,286 (GRCm39) |
G127V |
probably damaging |
Het |
| Fgfr1 |
C |
T |
8: 26,053,523 (GRCm39) |
T266I |
unknown |
Het |
| Fktn |
C |
T |
4: 53,747,128 (GRCm39) |
H344Y |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,192,402 (GRCm39) |
M2678V |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,810,225 (GRCm39) |
Y2181* |
probably null |
Het |
| Gm21698 |
A |
T |
5: 26,189,184 (GRCm39) |
D256E |
probably damaging |
Het |
| Hipk1 |
C |
T |
3: 103,651,431 (GRCm39) |
V1156I |
possibly damaging |
Het |
| Igsf10 |
T |
A |
3: 59,239,126 (GRCm39) |
I352F |
probably damaging |
Het |
| Igsf5 |
C |
A |
16: 96,174,075 (GRCm39) |
T35K |
probably damaging |
Het |
| Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
| Kctd11 |
T |
G |
11: 69,770,732 (GRCm39) |
H102P |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,972,771 (GRCm39) |
T37A |
probably benign |
Het |
| Or7g29 |
T |
A |
9: 19,286,577 (GRCm39) |
Y200F |
probably benign |
Het |
| Or8u10 |
T |
C |
2: 85,915,606 (GRCm39) |
N172D |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,904,869 (GRCm39) |
S506P |
probably benign |
Het |
| Pias3 |
T |
C |
3: 96,606,881 (GRCm39) |
I57T |
probably damaging |
Het |
| Psmc2 |
A |
G |
5: 22,000,806 (GRCm39) |
I94V |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,342,798 (GRCm39) |
Y224H |
possibly damaging |
Het |
| Rrh |
C |
T |
3: 129,605,421 (GRCm39) |
V229M |
probably damaging |
Het |
| Scaf4 |
G |
A |
16: 90,045,533 (GRCm39) |
R526C |
unknown |
Het |
| Slc1a6 |
G |
A |
10: 78,629,167 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
A |
G |
14: 14,782,056 (GRCm38) |
D937G |
probably damaging |
Het |
| Slco1b2 |
C |
A |
6: 141,601,079 (GRCm39) |
T134K |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,056,717 (GRCm39) |
*2562W |
probably null |
Het |
| Ston1 |
T |
C |
17: 88,944,472 (GRCm39) |
V626A |
probably damaging |
Het |
| Synpo |
A |
T |
18: 60,736,832 (GRCm39) |
D371E |
possibly damaging |
Het |
| Tex15 |
T |
A |
8: 34,062,721 (GRCm39) |
V717D |
probably damaging |
Het |
| Tmod3 |
A |
C |
9: 75,436,805 (GRCm39) |
N43K |
probably damaging |
Het |
| Tmod3 |
G |
T |
9: 75,436,801 (GRCm39) |
L45I |
possibly damaging |
Het |
| Tmod3 |
G |
C |
9: 75,436,803 (GRCm39) |
A44G |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,389,845 (GRCm38) |
F228L |
probably damaging |
Het |
| Trappc14 |
A |
G |
5: 138,259,940 (GRCm39) |
M372T |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,644,002 (GRCm39) |
T4455A |
possibly damaging |
Het |
| Vmn1r178 |
C |
A |
7: 23,593,733 (GRCm39) |
Y260* |
probably null |
Het |
| Vps13c |
T |
A |
9: 67,826,646 (GRCm39) |
I1429N |
probably damaging |
Het |
| Wdr31 |
A |
G |
4: 62,381,651 (GRCm39) |
V60A |
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 |
|
|
R5953:Asns
|
UTSW |
6 |
7,682,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTATAGCCAGCCAGCCATC -3'
(R):5'- GATAAAGCTGGTTTGTGTCCAAC -3'
Sequencing Primer
(F):5'- AGCCATCCCCAGCTTCACTC -3'
(R):5'- GGTTTCAAGAATCCAGAGTTGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation