Incidental Mutation 'R8351:Slc3a1'
| ID |
645537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc3a1
|
| Ensembl Gene |
ENSMUSG00000024131 |
| Gene Name |
solute carrier family 3, member 1 |
| Synonyms |
NTAA, D2H |
| MMRRC Submission |
067804-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
85335804-85371664 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85335924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 22
(N22S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024944]
[ENSMUST00000112305]
[ENSMUST00000112307]
|
| AlphaFold |
Q91WV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024944
AA Change: N22S
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000024944
Gene: ENSMUSG00000024131
AA Change: N22S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
87 |
109 |
N/A |
INTRINSIC |
|
Aamy
|
124 |
504 |
6.7e-110 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112305
|
| SMART Domains |
Protein: ENSMUSP00000107924
Gene: ENSMUSG00000061130
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
13 |
293 |
1.57e-97 |
SMART |
|
PP2C_SIG
|
38 |
295 |
2.6e-1 |
SMART |
|
Blast:PP2Cc
|
296 |
341 |
6e-16 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112307
|
| SMART Domains |
Protein: ENSMUSP00000107926
Gene: ENSMUSG00000061130
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
13 |
293 |
1.57e-97 |
SMART |
|
PP2C_SIG
|
38 |
295 |
2.6e-1 |
SMART |
|
Blast:PP2Cc
|
296 |
341 |
5e-16 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this locus results in renal absorption defects and cystine urolithiasis. Homozygous mutant mice serve as a mouse model for human cystinuria type I. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Acss3 |
T |
C |
10: 106,885,265 (GRCm39) |
H242R |
probably damaging |
Het |
| Ago2 |
G |
T |
15: 73,002,739 (GRCm39) |
D164E |
probably damaging |
Het |
| Arl2bp |
G |
A |
8: 95,393,507 (GRCm39) |
E6K |
unknown |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,303,663 (GRCm39) |
E249G |
probably damaging |
Het |
| Cep162 |
G |
A |
9: 87,074,903 (GRCm39) |
Q1360* |
probably null |
Het |
| Cep350 |
T |
C |
1: 155,747,780 (GRCm39) |
I2047V |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,362,687 (GRCm39) |
R347W |
probably damaging |
Het |
| Eif4a3l1 |
T |
A |
6: 136,305,542 (GRCm39) |
M1K |
probably null |
Het |
| Fmo6 |
C |
T |
1: 162,748,174 (GRCm39) |
V297M |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,048,470 (GRCm39) |
V17M |
probably benign |
Het |
| Hs6st1 |
A |
G |
1: 36,108,141 (GRCm39) |
T135A |
probably damaging |
Het |
| Klk1 |
A |
G |
7: 43,878,410 (GRCm39) |
E190G |
probably benign |
Het |
| Map3k21 |
T |
C |
8: 126,671,472 (GRCm39) |
L920P |
probably benign |
Het |
| Mecom |
T |
A |
3: 30,039,519 (GRCm39) |
H180L |
probably benign |
Het |
| Mras |
T |
C |
9: 99,293,548 (GRCm39) |
I31V |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,477,413 (GRCm39) |
D532G |
probably damaging |
Het |
| Nufip2 |
A |
G |
11: 77,583,181 (GRCm39) |
N365S |
probably damaging |
Het |
| Or12j2 |
T |
C |
7: 139,916,518 (GRCm39) |
Y248H |
probably damaging |
Het |
| Or4f47 |
A |
T |
2: 111,972,406 (GRCm39) |
M39L |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,660 (GRCm39) |
I228V |
probably benign |
Het |
| Pgbd1 |
A |
T |
13: 21,607,550 (GRCm39) |
S215T |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,885,625 (GRCm39) |
C34R |
probably benign |
Het |
| S100a7l2 |
A |
T |
3: 90,995,671 (GRCm39) |
M77K |
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,338,888 (GRCm39) |
D703G |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,724,088 (GRCm39) |
N623K |
possibly damaging |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,326,710 (GRCm39) |
D249G |
probably benign |
Het |
| Sugct |
A |
G |
13: 17,427,143 (GRCm39) |
L339P |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,740,907 (GRCm39) |
D1192G |
probably damaging |
Het |
| Tinagl1 |
T |
A |
4: 130,061,376 (GRCm39) |
D289V |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,807,691 (GRCm39) |
P1548T |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,957 (GRCm39) |
L64* |
probably null |
Het |
| Zcchc2 |
T |
A |
1: 105,958,662 (GRCm39) |
N1044K |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,404,135 (GRCm39) |
I247V |
probably benign |
Het |
|
| Other mutations in Slc3a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Slc3a1
|
APN |
17 |
85,368,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00647:Slc3a1
|
APN |
17 |
85,371,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02755:Slc3a1
|
APN |
17 |
85,344,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03079:Slc3a1
|
APN |
17 |
85,367,251 (GRCm39) |
nonsense |
probably null |
|
|
IGL03390:Slc3a1
|
APN |
17 |
85,340,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Slc3a1
|
UTSW |
17 |
85,340,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0097:Slc3a1
|
UTSW |
17 |
85,340,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0097:Slc3a1
|
UTSW |
17 |
85,340,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0363:Slc3a1
|
UTSW |
17 |
85,340,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Slc3a1
|
UTSW |
17 |
85,336,077 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0636:Slc3a1
|
UTSW |
17 |
85,340,222 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0662:Slc3a1
|
UTSW |
17 |
85,344,635 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0725:Slc3a1
|
UTSW |
17 |
85,368,263 (GRCm39) |
nonsense |
probably null |
|
|
R0930:Slc3a1
|
UTSW |
17 |
85,367,171 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1141:Slc3a1
|
UTSW |
17 |
85,336,077 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2025:Slc3a1
|
UTSW |
17 |
85,340,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Slc3a1
|
UTSW |
17 |
85,371,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4196:Slc3a1
|
UTSW |
17 |
85,368,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Slc3a1
|
UTSW |
17 |
85,354,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5049:Slc3a1
|
UTSW |
17 |
85,340,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Slc3a1
|
UTSW |
17 |
85,335,881 (GRCm39) |
splice site |
probably null |
|
|
R5261:Slc3a1
|
UTSW |
17 |
85,359,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5601:Slc3a1
|
UTSW |
17 |
85,340,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5853:Slc3a1
|
UTSW |
17 |
85,340,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Slc3a1
|
UTSW |
17 |
85,335,951 (GRCm39) |
missense |
probably benign |
|
|
R6332:Slc3a1
|
UTSW |
17 |
85,335,860 (GRCm39) |
start codon destroyed |
probably damaging |
0.99 |
|
R7162:Slc3a1
|
UTSW |
17 |
85,371,442 (GRCm39) |
nonsense |
probably null |
|
|
R7269:Slc3a1
|
UTSW |
17 |
85,339,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Slc3a1
|
UTSW |
17 |
85,371,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7807:Slc3a1
|
UTSW |
17 |
85,371,371 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8269:Slc3a1
|
UTSW |
17 |
85,339,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8361:Slc3a1
|
UTSW |
17 |
85,344,640 (GRCm39) |
nonsense |
probably null |
|
|
R8451:Slc3a1
|
UTSW |
17 |
85,335,924 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8543:Slc3a1
|
UTSW |
17 |
85,335,925 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9764:Slc3a1
|
UTSW |
17 |
85,371,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Slc3a1
|
UTSW |
17 |
85,336,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCTTGGCTGGACAAAGTC -3'
(R):5'- GTGAGCCAGAAGAGGATCTC -3'
Sequencing Primer
(F):5'- AGTCCAGCCATGATTATTTATAAACC -3'
(R):5'- AAGAGGATCTCTCGGGGCAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation