Incidental Mutation 'R1265:Slc38a3'
| ID |
151145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a3
|
| Ensembl Gene |
ENSMUSG00000010064 |
| Gene Name |
solute carrier family 38, member 3 |
| Synonyms |
0610012J02Rik, D9Ucla2, Snat3 |
| MMRRC Submission |
039332-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R1265 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107528353-107546167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107529185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 489
(F489S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010208]
[ENSMUST00000167868]
[ENSMUST00000177567]
[ENSMUST00000193932]
|
| AlphaFold |
Q9DCP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010208
AA Change: F489S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010208
Gene: ENSMUSG00000010064
AA Change: F489S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167868
AA Change: F489S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130414
Gene: ENSMUSG00000010064
AA Change: F489S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177567
AA Change: F489S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137561
Gene: ENSMUSG00000010064
AA Change: F489S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
5.5e-110 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191923
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192211
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193932
AA Change: F489S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142087
Gene: ENSMUSG00000010064
AA Change: F489S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195739
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU allele exhibit complete postnatal lethality between P18 and P20, altered amino acid levels in the serum, liver and brain, and decreased ammonia excretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,836,734 (GRCm39) |
D316G |
possibly damaging |
Het |
| Aebp1 |
T |
C |
11: 5,821,740 (GRCm39) |
V713A |
probably damaging |
Het |
| Alg2 |
T |
C |
4: 47,474,289 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,607,053 (GRCm39) |
V1273E |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,356,248 (GRCm39) |
T760A |
possibly damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,913,011 (GRCm39) |
V1779E |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,366,666 (GRCm39) |
V537M |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Ly6h |
T |
A |
15: 75,438,032 (GRCm39) |
M27L |
probably benign |
Het |
| Nphs2 |
A |
G |
1: 156,146,317 (GRCm39) |
T173A |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
| Or3a1d |
T |
C |
11: 74,237,766 (GRCm39) |
I95V |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,029,124 (GRCm39) |
D82G |
possibly damaging |
Het |
| Pkp2 |
A |
G |
16: 16,043,168 (GRCm39) |
N76S |
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,647,625 (GRCm39) |
S976P |
probably benign |
Het |
| Sox11 |
T |
C |
12: 27,391,735 (GRCm39) |
T225A |
probably benign |
Het |
| Tbx10 |
T |
C |
19: 4,046,625 (GRCm39) |
F35S |
probably damaging |
Het |
| Tcf4 |
T |
C |
18: 69,776,003 (GRCm39) |
M40T |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Thsd7a |
T |
C |
6: 12,317,418 (GRCm39) |
N1630S |
probably damaging |
Het |
| Urb2 |
A |
G |
8: 124,751,892 (GRCm39) |
D75G |
probably damaging |
Het |
|
| Other mutations in Slc38a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00589:Slc38a3
|
APN |
9 |
107,535,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4354001:Slc38a3
|
UTSW |
9 |
107,534,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0522:Slc38a3
|
UTSW |
9 |
107,532,412 (GRCm39) |
splice site |
probably null |
|
|
R0865:Slc38a3
|
UTSW |
9 |
107,532,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Slc38a3
|
UTSW |
9 |
107,533,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Slc38a3
|
UTSW |
9 |
107,533,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Slc38a3
|
UTSW |
9 |
107,534,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4209:Slc38a3
|
UTSW |
9 |
107,532,547 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4343:Slc38a3
|
UTSW |
9 |
107,533,671 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4534:Slc38a3
|
UTSW |
9 |
107,533,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4535:Slc38a3
|
UTSW |
9 |
107,533,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4860:Slc38a3
|
UTSW |
9 |
107,532,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Slc38a3
|
UTSW |
9 |
107,532,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Slc38a3
|
UTSW |
9 |
107,533,426 (GRCm39) |
missense |
probably benign |
|
|
R5058:Slc38a3
|
UTSW |
9 |
107,536,390 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5219:Slc38a3
|
UTSW |
9 |
107,529,111 (GRCm39) |
unclassified |
probably benign |
|
|
R5776:Slc38a3
|
UTSW |
9 |
107,535,948 (GRCm39) |
nonsense |
probably null |
|
|
R6029:Slc38a3
|
UTSW |
9 |
107,529,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6146:Slc38a3
|
UTSW |
9 |
107,532,228 (GRCm39) |
missense |
probably benign |
|
|
R6292:Slc38a3
|
UTSW |
9 |
107,532,353 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7250:Slc38a3
|
UTSW |
9 |
107,533,865 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8221:Slc38a3
|
UTSW |
9 |
107,534,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8409:Slc38a3
|
UTSW |
9 |
107,536,454 (GRCm39) |
splice site |
probably benign |
|
|
R8805:Slc38a3
|
UTSW |
9 |
107,532,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8823:Slc38a3
|
UTSW |
9 |
107,533,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Slc38a3
|
UTSW |
9 |
107,536,322 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9624:Slc38a3
|
UTSW |
9 |
107,532,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGGATCTAAGGCGATGACAGC -3'
(R):5'- CGAATCATGCCCACTGACAAGGAG -3'
Sequencing Primer
(F):5'- CCAGAGGCCATAGTATTTACAGAGTC -3'
(R):5'- GGAGCCTGCAAGATCCAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation