Incidental Mutation 'R2430:Ass1'
| ID |
250363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ass1
|
| Ensembl Gene |
ENSMUSG00000076441 |
| Gene Name |
argininosuccinate synthetase 1 |
| Synonyms |
ASS, fold, Ass-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2430 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
31360282-31410682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31391508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 261
(H261R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102840]
|
| AlphaFold |
P16460 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102840
AA Change: H261R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099904
Gene: ENSMUSG00000076441
AA Change: H261R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:QueC
|
6 |
93 |
2.8e-7 |
PFAM |
|
Pfam:Arginosuc_synth
|
8 |
403 |
1.9e-177 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192802
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| 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 catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arc |
T |
C |
15: 74,543,740 (GRCm39) |
E161G |
probably benign |
Het |
| Car11 |
T |
A |
7: 45,353,072 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,914,329 (GRCm39) |
H844R |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,648,012 (GRCm39) |
|
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
| Klhl40 |
A |
G |
9: 121,609,667 (GRCm39) |
D484G |
possibly damaging |
Het |
| Knstrn |
A |
G |
2: 118,664,584 (GRCm39) |
|
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,842,494 (GRCm39) |
S1838P |
probably damaging |
Het |
| Nipsnap2 |
A |
G |
5: 129,821,855 (GRCm39) |
D117G |
possibly damaging |
Het |
| Nudt15 |
C |
T |
14: 73,762,742 (GRCm39) |
|
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,576,999 (GRCm39) |
M153K |
possibly damaging |
Het |
| Or8k35 |
A |
G |
2: 86,425,052 (GRCm39) |
I40T |
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,704,984 (GRCm39) |
D772G |
probably damaging |
Het |
| Pdss1 |
T |
A |
2: 22,819,605 (GRCm39) |
Y289* |
probably null |
Het |
| Phc2 |
A |
T |
4: 128,601,776 (GRCm39) |
Y77F |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,662,755 (GRCm39) |
Y667N |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,859,733 (GRCm39) |
S1186P |
possibly damaging |
Het |
| Prr36 |
A |
T |
8: 4,263,488 (GRCm39) |
|
probably benign |
Het |
| Reck |
C |
T |
4: 43,930,202 (GRCm39) |
T592I |
possibly damaging |
Het |
| Rprd2 |
T |
A |
3: 95,672,107 (GRCm39) |
K1015* |
probably null |
Het |
| Tfrc |
T |
G |
16: 32,445,529 (GRCm39) |
Y617D |
probably damaging |
Het |
| Tnfsf11 |
A |
C |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,933 (GRCm39) |
I334F |
probably damaging |
Het |
|
| Other mutations in Ass1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Ass1
|
APN |
2 |
31,366,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02152:Ass1
|
APN |
2 |
31,382,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0084:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0220:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0302:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0472:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0605:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0644:Ass1
|
UTSW |
2 |
31,404,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Ass1
|
UTSW |
2 |
31,404,753 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1465:Ass1
|
UTSW |
2 |
31,410,428 (GRCm39) |
makesense |
probably null |
|
|
R1465:Ass1
|
UTSW |
2 |
31,410,428 (GRCm39) |
makesense |
probably null |
|
|
R1770:Ass1
|
UTSW |
2 |
31,376,528 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1908:Ass1
|
UTSW |
2 |
31,383,160 (GRCm39) |
nonsense |
probably null |
|
|
R2361:Ass1
|
UTSW |
2 |
31,410,394 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3816:Ass1
|
UTSW |
2 |
31,400,117 (GRCm39) |
splice site |
probably benign |
|
|
R4614:Ass1
|
UTSW |
2 |
31,404,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Ass1
|
UTSW |
2 |
31,371,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Ass1
|
UTSW |
2 |
31,391,544 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5069:Ass1
|
UTSW |
2 |
31,400,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5081:Ass1
|
UTSW |
2 |
31,378,665 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5315:Ass1
|
UTSW |
2 |
31,382,341 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5370:Ass1
|
UTSW |
2 |
31,408,745 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6259:Ass1
|
UTSW |
2 |
31,378,654 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6541:Ass1
|
UTSW |
2 |
31,400,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6731:Ass1
|
UTSW |
2 |
31,404,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6927:Ass1
|
UTSW |
2 |
31,404,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7811:Ass1
|
UTSW |
2 |
31,404,753 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7995:Ass1
|
UTSW |
2 |
31,376,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8504:Ass1
|
UTSW |
2 |
31,391,544 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8816:Ass1
|
UTSW |
2 |
31,383,189 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8865:Ass1
|
UTSW |
2 |
31,410,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8930:Ass1
|
UTSW |
2 |
31,382,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Ass1
|
UTSW |
2 |
31,382,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCCAGACAATCCGTTCTC -3'
(R):5'- CTCACTTCATCGGGGTGTAAG -3'
Sequencing Primer
(F):5'- AGACAATCCGTTCTCTTTCAGGG -3'
(R):5'- TCACTTCATCGGGGTGTAAGAGAAAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation