Incidental Mutation 'R5315:Ass1'
| ID |
405779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ass1
|
| Ensembl Gene |
ENSMUSG00000076441 |
| Gene Name |
argininosuccinate synthetase 1 |
| Synonyms |
ASS, fold, Ass-1 |
| MMRRC Submission |
042898-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5315 (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 T
at 31382341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 171
(I171F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102840]
|
| AlphaFold |
P16460 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102840
AA Change: I171F
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099904
Gene: ENSMUSG00000076441
AA Change: I171F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:QueC
|
6 |
93 |
2.8e-7 |
PFAM |
|
Pfam:Arginosuc_synth
|
8 |
403 |
1.9e-177 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
| AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
| Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
| Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
| Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,385,241 (GRCm39) |
D420G |
probably benign |
Het |
| Gm42669 |
A |
T |
5: 107,656,103 (GRCm39) |
I1301F |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,193,773 (GRCm39) |
E463G |
probably damaging |
Het |
| Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
| Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
| Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
| Mepce |
A |
C |
5: 137,780,955 (GRCm39) |
I617S |
probably damaging |
Het |
| Mms19 |
C |
T |
19: 41,943,201 (GRCm39) |
R320Q |
possibly damaging |
Het |
| Nt5c2 |
T |
C |
19: 46,880,682 (GRCm39) |
Y353C |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
| Plin5 |
C |
A |
17: 56,421,066 (GRCm39) |
V200L |
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
| S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
| Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
| Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,754,976 (GRCm39) |
T23P |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
| Tbc1d14 |
T |
C |
5: 36,664,932 (GRCm39) |
D567G |
probably damaging |
Het |
| Tmem106b |
T |
G |
6: 13,081,559 (GRCm39) |
N155K |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,743 (GRCm39) |
K155R |
probably benign |
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 |
|
R2430:Ass1
|
UTSW |
2 |
31,391,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TACTCTCTTGTGATTAATGAGGGC -3'
(R):5'- CAGAAGAGCTGCGCTTTCTC -3'
Sequencing Primer
(F):5'- GCACCTCTAGGGGTTAAGC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation