Incidental Mutation 'R3907:Asns'
| ID |
310241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asns
|
| Ensembl Gene |
ENSMUSG00000029752 |
| Gene Name |
asparagine synthetase |
| Synonyms |
|
| MMRRC Submission |
040908-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R3907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
7675169-7693209 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 7682270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031766]
[ENSMUST00000115542]
[ENSMUST00000126303]
[ENSMUST00000139596]
[ENSMUST00000148349]
|
| AlphaFold |
Q61024 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031766
|
| SMART Domains |
Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
| 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 null
Transcript: ENSMUST00000115542
|
| SMART Domains |
Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
| 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
|
| SMART Domains |
Protein: ENSMUSP00000115415
Gene: ENSMUSG00000029752
| 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 |
|
| Meta Mutation Damage Score |
0.9588 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
97% (56/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,392,877 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ank2 |
A |
G |
3: 126,810,547 (GRCm39) |
L513P |
probably damaging |
Het |
| Apba1 |
T |
C |
19: 23,914,870 (GRCm39) |
I690T |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,420,223 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Aspg |
T |
A |
12: 112,078,693 (GRCm39) |
Y57* |
probably null |
Het |
| Asph |
T |
C |
4: 9,474,934 (GRCm39) |
K680R |
probably benign |
Het |
| Atp2b4 |
A |
T |
1: 133,666,324 (GRCm39) |
S243T |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Car4 |
G |
A |
11: 84,855,183 (GRCm39) |
V141M |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,951,560 (GRCm39) |
I376V |
probably benign |
Het |
| Chrm4 |
C |
T |
2: 91,758,084 (GRCm39) |
A164V |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,928,240 (GRCm39) |
D291V |
probably benign |
Het |
| Dcaf6 |
A |
T |
1: 165,251,949 (GRCm39) |
C58* |
probably null |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Defb4 |
A |
T |
8: 19,251,277 (GRCm39) |
Q48L |
possibly damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,578,496 (GRCm39) |
A663T |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,113,541 (GRCm39) |
|
probably null |
Het |
| E130308A19Rik |
C |
T |
4: 59,752,393 (GRCm39) |
T502I |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 101,878,925 (GRCm39) |
C522R |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,643,432 (GRCm39) |
K101E |
probably damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,135,583 (GRCm39) |
|
noncoding transcript |
Het |
| Gphn |
T |
A |
12: 78,540,716 (GRCm39) |
|
probably benign |
Het |
| Hars1 |
A |
T |
18: 36,915,769 (GRCm39) |
D48E |
probably benign |
Het |
| Hmgcll1 |
G |
A |
9: 75,979,943 (GRCm39) |
R111H |
probably benign |
Het |
| Ighv3-4 |
A |
G |
12: 114,217,538 (GRCm39) |
S18P |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,212,973 (GRCm39) |
E134K |
possibly damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,137,989 (GRCm39) |
V329A |
possibly damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,496,464 (GRCm39) |
M1575L |
possibly damaging |
Het |
| Mapkapk2 |
A |
T |
1: 130,984,651 (GRCm39) |
S234T |
probably damaging |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,133,071 (GRCm39) |
D905E |
possibly damaging |
Het |
| Or4c117 |
A |
C |
2: 88,955,927 (GRCm39) |
Y49* |
probably null |
Het |
| Or6z7 |
A |
T |
7: 6,483,678 (GRCm39) |
V159D |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
| Pced1b |
T |
C |
15: 97,282,431 (GRCm39) |
S157P |
probably damaging |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,410 (GRCm39) |
I345T |
probably benign |
Het |
| Prrt4 |
G |
T |
6: 29,177,173 (GRCm39) |
L199M |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,702,239 (GRCm39) |
D347G |
possibly damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,262,917 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,002,557 (GRCm39) |
L2004F |
probably benign |
Het |
| Rnf185 |
A |
G |
11: 3,376,681 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
C |
T |
7: 143,963,313 (GRCm39) |
P307L |
probably damaging |
Het |
| Slc19a3 |
G |
A |
1: 82,992,534 (GRCm39) |
R396C |
possibly damaging |
Het |
| Stn1 |
T |
C |
19: 47,496,262 (GRCm39) |
D321G |
probably damaging |
Het |
| Taar7a |
T |
C |
10: 23,868,457 (GRCm39) |
Y308C |
probably benign |
Het |
| Tespa1 |
T |
C |
10: 130,192,666 (GRCm39) |
|
probably benign |
Het |
| Tmcc2 |
T |
C |
1: 132,288,376 (GRCm39) |
D359G |
probably damaging |
Het |
| Trhde |
C |
T |
10: 114,636,601 (GRCm39) |
G202E |
possibly damaging |
Het |
| Trip12 |
T |
C |
1: 84,709,827 (GRCm39) |
T469A |
possibly damaging |
Het |
| Trip4 |
A |
G |
9: 65,740,708 (GRCm39) |
I533T |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,983 (GRCm39) |
I154T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,733,686 (GRCm39) |
|
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,631 (GRCm39) |
T160A |
possibly damaging |
Het |
| Usp54 |
A |
T |
14: 20,636,181 (GRCm39) |
S288T |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,585,926 (GRCm39) |
|
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 |
|
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 |
|
R9798:Asns
|
UTSW |
6 |
7,689,395 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGCAAGCAGTCTACTACATC -3'
(R):5'- GCAGAGAAGCACCTAATTGC -3'
Sequencing Primer
(F):5'- GGCAAGCAGTCTACTACATCATTGTG -3'
(R):5'- GAGAAGCACCTAATTGCATACGTTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation