Incidental Mutation 'R6405:Slc7a9'
| ID |
516255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc7a9
|
| Ensembl Gene |
ENSMUSG00000030492 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 |
| Synonyms |
b, +AT, b, + amino acid transporter, CSNU3 |
| MMRRC Submission |
044550-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R6405 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35148221-35165461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35154064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 229
(L229P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032703]
[ENSMUST00000118383]
[ENSMUST00000118969]
[ENSMUST00000141245]
|
| AlphaFold |
Q9QXA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032703
AA Change: L229P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032703
Gene: ENSMUSG00000030492
AA Change: L229P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
30 |
456 |
9e-67 |
PFAM |
|
Pfam:AA_permease
|
35 |
468 |
4.8e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118383
AA Change: L229P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113181
Gene: ENSMUSG00000030492
AA Change: L229P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
30 |
456 |
9e-67 |
PFAM |
|
Pfam:AA_permease
|
35 |
468 |
4.8e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118969
AA Change: L229P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112726
Gene: ENSMUSG00000030492
AA Change: L229P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
30 |
457 |
1.8e-65 |
PFAM |
|
Pfam:AA_permease
|
35 |
468 |
2.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147026
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Inactivation of this locus leads to renal absorption defects and cystine urolithiasis, similar to the symptoms observed in patients with cystinuria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,669,742 (GRCm39) |
V769A |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,967,311 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,739,771 (GRCm39) |
S628T |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,935,674 (GRCm39) |
T315A |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,159,784 (GRCm39) |
V267E |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,387,154 (GRCm39) |
S158T |
probably damaging |
Het |
| Asxl2 |
T |
A |
12: 3,543,758 (GRCm39) |
V309E |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ccdc110 |
T |
A |
8: 46,394,734 (GRCm39) |
Y208* |
probably null |
Het |
| Cfap157 |
G |
T |
2: 32,671,408 (GRCm39) |
Q133K |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,492,677 (GRCm39) |
E467G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,683,767 (GRCm39) |
I1688M |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,799,230 (GRCm39) |
L319Q |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,261,570 (GRCm39) |
I2613V |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,636,839 (GRCm39) |
W11R |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,479,625 (GRCm39) |
G1174D |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,501,076 (GRCm39) |
I402K |
probably benign |
Het |
| Hectd3 |
A |
T |
4: 116,857,821 (GRCm39) |
M585L |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,524,004 (GRCm39) |
|
probably null |
Het |
| Lalba |
T |
G |
15: 98,378,632 (GRCm39) |
|
probably null |
Het |
| Lgals9 |
C |
A |
11: 78,862,211 (GRCm39) |
V125L |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or2g25 |
A |
G |
17: 37,971,014 (GRCm39) |
I70T |
possibly damaging |
Het |
| Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Rab4b |
T |
A |
7: 26,872,379 (GRCm39) |
D94V |
probably damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,071,864 (GRCm39) |
E243G |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,415,994 (GRCm39) |
D1706G |
probably damaging |
Het |
| Slc29a3 |
A |
T |
10: 60,551,805 (GRCm39) |
I413N |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,755,686 (GRCm39) |
H104R |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,210,231 (GRCm39) |
Y241H |
probably damaging |
Het |
| Trpv5 |
G |
T |
6: 41,651,602 (GRCm39) |
T192K |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,134,595 (GRCm39) |
V2189A |
probably damaging |
Het |
| Vmn2r106 |
A |
C |
17: 20,499,361 (GRCm39) |
S183R |
probably benign |
Het |
| Vmn2r112 |
G |
T |
17: 22,837,216 (GRCm39) |
C559F |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,481,324 (GRCm39) |
D1031G |
possibly damaging |
Het |
| Wnt5b |
T |
C |
6: 119,410,457 (GRCm39) |
S328G |
probably benign |
Het |
| Zcchc7 |
T |
C |
4: 44,926,032 (GRCm39) |
Y344H |
probably damaging |
Het |
|
| Other mutations in Slc7a9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Slc7a9
|
APN |
7 |
35,160,312 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01538:Slc7a9
|
APN |
7 |
35,153,589 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01860:Slc7a9
|
APN |
7 |
35,156,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02291:Slc7a9
|
APN |
7 |
35,156,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02436:Slc7a9
|
APN |
7 |
35,156,478 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02525:Slc7a9
|
APN |
7 |
35,152,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03296:Slc7a9
|
APN |
7 |
35,151,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0006:Slc7a9
|
UTSW |
7 |
35,169,525 (GRCm39) |
unclassified |
probably benign |
|
|
R1703:Slc7a9
|
UTSW |
7 |
35,154,000 (GRCm39) |
missense |
probably benign |
|
|
R1886:Slc7a9
|
UTSW |
7 |
35,152,828 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1886:Slc7a9
|
UTSW |
7 |
35,152,827 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1907:Slc7a9
|
UTSW |
7 |
35,149,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2027:Slc7a9
|
UTSW |
7 |
35,153,562 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2133:Slc7a9
|
UTSW |
7 |
35,152,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2937:Slc7a9
|
UTSW |
7 |
35,163,167 (GRCm39) |
nonsense |
probably null |
|
|
R3684:Slc7a9
|
UTSW |
7 |
35,152,926 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4506:Slc7a9
|
UTSW |
7 |
35,152,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Slc7a9
|
UTSW |
7 |
35,152,988 (GRCm39) |
nonsense |
probably null |
|
|
R4732:Slc7a9
|
UTSW |
7 |
35,152,988 (GRCm39) |
nonsense |
probably null |
|
|
R4733:Slc7a9
|
UTSW |
7 |
35,152,988 (GRCm39) |
nonsense |
probably null |
|
|
R5007:Slc7a9
|
UTSW |
7 |
35,153,554 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6175:Slc7a9
|
UTSW |
7 |
35,165,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Slc7a9
|
UTSW |
7 |
35,159,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Slc7a9
|
UTSW |
7 |
35,151,936 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7760:Slc7a9
|
UTSW |
7 |
35,156,500 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8121:Slc7a9
|
UTSW |
7 |
35,153,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Slc7a9
|
UTSW |
7 |
35,155,558 (GRCm39) |
missense |
probably benign |
|
|
R8185:Slc7a9
|
UTSW |
7 |
35,151,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Slc7a9
|
UTSW |
7 |
35,152,858 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8732:Slc7a9
|
UTSW |
7 |
35,156,443 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8803:Slc7a9
|
UTSW |
7 |
35,163,143 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9052:Slc7a9
|
UTSW |
7 |
35,153,017 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0022:Slc7a9
|
UTSW |
7 |
35,151,927 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Slc7a9
|
UTSW |
7 |
35,152,995 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACAAGTCATAGCCTTCTTTCTG -3'
(R):5'- CCAGTTGCAGGCTAGGAAAG -3'
Sequencing Primer
(F):5'- AAGTCATAGCCTTCTTTCTGTTAGG -3'
(R):5'- TTGACCCCATGATGTCACAGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation