Incidental Mutation 'PIT4354001:Slc38a3'
ID |
554824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc38a3
|
Ensembl Gene |
ENSMUSG00000010064 |
Gene Name |
solute carrier family 38, member 3 |
Synonyms |
0610012J02Rik, D9Ucla2, Snat3 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.752)
|
Stock # |
PIT4354001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
107528353-107546167 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 107534848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Histidine
at position 176
(N176H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010208
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010208]
[ENSMUST00000167868]
[ENSMUST00000177567]
[ENSMUST00000192323]
[ENSMUST00000192990]
[ENSMUST00000193932]
[ENSMUST00000195843]
|
AlphaFold |
Q9DCP2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010208
AA Change: N176H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000010208 Gene: ENSMUSG00000010064 AA Change: N176H
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167868
AA Change: N176H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000130414 Gene: ENSMUSG00000010064 AA Change: N176H
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177567
AA Change: N176H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000137561 Gene: ENSMUSG00000010064 AA Change: N176H
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
63 |
492 |
5.5e-110 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192211
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192323
AA Change: N176H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000141850 Gene: ENSMUSG00000010064 AA Change: N176H
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
63 |
181 |
2.5e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192990
|
SMART Domains |
Protein: ENSMUSP00000141528 Gene: ENSMUSG00000010064
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
63 |
154 |
1.7e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193932
AA Change: N176H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000142087 Gene: ENSMUSG00000010064 AA Change: N176H
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195739
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195843
|
SMART Domains |
Protein: ENSMUSP00000141552 Gene: ENSMUSG00000010064
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
63 |
99 |
6.4e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 92.5%
- 3x: 90.1%
- 10x: 83.2%
- 20x: 69.0%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
A |
T |
5: 62,811,392 (GRCm39) |
Y1140N |
probably damaging |
Het |
Ccdc83 |
A |
T |
7: 89,873,182 (GRCm39) |
M391K |
probably benign |
Het |
Cntnap1 |
A |
T |
11: 101,072,123 (GRCm39) |
I459F |
probably damaging |
Het |
Cr2 |
T |
A |
1: 194,848,617 (GRCm39) |
Y302F |
probably damaging |
Het |
Ctu2 |
A |
T |
8: 123,205,714 (GRCm39) |
D179V |
probably damaging |
Het |
Cubn |
G |
A |
2: 13,473,663 (GRCm39) |
Q427* |
probably null |
Het |
Depdc7 |
A |
G |
2: 104,558,533 (GRCm39) |
S163P |
probably benign |
Het |
Eif2s3y |
C |
T |
Y: 1,020,126 (GRCm39) |
R385C |
probably benign |
Het |
Gigyf1 |
A |
G |
5: 137,522,366 (GRCm39) |
K728R |
unknown |
Het |
Gm1587 |
G |
A |
14: 78,034,473 (GRCm39) |
R32* |
probably null |
Het |
Hjv |
T |
C |
3: 96,435,761 (GRCm39) |
C340R |
probably damaging |
Het |
Isy1 |
A |
G |
6: 87,810,653 (GRCm39) |
I53T |
possibly damaging |
Het |
Myh8 |
A |
T |
11: 67,180,456 (GRCm39) |
N564I |
probably benign |
Het |
Neb |
A |
T |
2: 52,135,330 (GRCm39) |
I3260N |
probably damaging |
Het |
Npc1 |
C |
T |
18: 12,344,592 (GRCm39) |
G426E |
probably benign |
Het |
Nrdc |
G |
A |
4: 108,911,222 (GRCm39) |
|
probably null |
Het |
Or2v1 |
G |
A |
11: 49,025,132 (GRCm39) |
V38M |
probably damaging |
Het |
Or4c10b |
T |
A |
2: 89,711,852 (GRCm39) |
S227R |
probably benign |
Het |
Or4c116 |
C |
A |
2: 88,942,830 (GRCm39) |
E9* |
probably null |
Het |
Pate8 |
T |
A |
9: 36,492,597 (GRCm39) |
S103C |
possibly damaging |
Het |
Prss51 |
T |
A |
14: 64,334,546 (GRCm39) |
V91D |
probably damaging |
Het |
Qpct |
A |
C |
17: 79,389,188 (GRCm39) |
Y280S |
probably benign |
Het |
Rbpms |
A |
G |
8: 34,296,866 (GRCm39) |
V137A |
possibly damaging |
Het |
Rgl2 |
T |
A |
17: 34,152,914 (GRCm39) |
M441K |
possibly damaging |
Het |
Sdhaf3 |
A |
T |
6: 6,956,072 (GRCm39) |
I16F |
possibly damaging |
Het |
Sos1 |
T |
C |
17: 80,756,785 (GRCm39) |
S256G |
possibly damaging |
Het |
Spg11 |
A |
T |
2: 121,918,666 (GRCm39) |
C988S |
probably damaging |
Het |
Sync |
A |
T |
4: 129,200,447 (GRCm39) |
Q451L |
possibly damaging |
Het |
Tbc1d31 |
A |
G |
15: 57,831,329 (GRCm39) |
Y929C |
probably benign |
Het |
Thbs2 |
G |
A |
17: 14,910,230 (GRCm39) |
T123I |
probably damaging |
Het |
Thsd7a |
A |
C |
6: 12,331,926 (GRCm39) |
|
probably null |
Het |
Tnfrsf11a |
T |
C |
1: 105,749,242 (GRCm39) |
L220P |
probably damaging |
Het |
Trbv13-2 |
G |
A |
6: 41,098,752 (GRCm39) |
C109Y |
probably damaging |
Het |
Ugt3a1 |
G |
A |
15: 9,306,446 (GRCm39) |
W198* |
probably null |
Het |
Usp14 |
G |
A |
18: 9,996,189 (GRCm39) |
R464W |
probably damaging |
Het |
Vmn1r2 |
C |
T |
4: 3,172,162 (GRCm39) |
S27L |
probably benign |
Het |
Vmn1r68 |
T |
A |
7: 10,261,958 (GRCm39) |
N47Y |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,262,944 (GRCm39) |
Y1719* |
probably null |
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 |
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 |
R1265:Slc38a3
|
UTSW |
9 |
107,529,185 (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'- CCCATGATCAGGAATAGCAGG -3'
(R):5'- CATTGGAGGTGAGCAAGTGC -3'
Sequencing Primer
(F):5'- ACATGGGCCCTAGCTTTCG -3'
(R):5'- AGCAAGTGCCTGGGGTG -3'
|
Posted On |
2019-06-07 |