Incidental Mutation 'R8409:Slc38a3'
ID |
652587 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc38a3
|
Ensembl Gene |
ENSMUSG00000010064 |
Gene Name |
solute carrier family 38, member 3 |
Synonyms |
0610012J02Rik, D9Ucla2, Snat3 |
MMRRC Submission |
067766-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.668)
|
Stock # |
R8409 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
107528353-107546167 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 107536454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141552
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010208]
[ENSMUST00000167868]
[ENSMUST00000177567]
[ENSMUST00000192323]
[ENSMUST00000192990]
[ENSMUST00000193932]
[ENSMUST00000195843]
|
AlphaFold |
Q9DCP2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010208
|
SMART Domains |
Protein: ENSMUSP00000010208 Gene: ENSMUSG00000010064
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167868
|
SMART Domains |
Protein: ENSMUSP00000130414 Gene: ENSMUSG00000010064
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177567
|
SMART Domains |
Protein: ENSMUSP00000137561 Gene: ENSMUSG00000010064
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
|
SMART Domains |
Protein: ENSMUSP00000141850 Gene: ENSMUSG00000010064
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
|
SMART Domains |
Protein: ENSMUSP00000142087 Gene: ENSMUSG00000010064
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1b |
T |
G |
5: 121,639,540 (GRCm39) |
N502H |
probably benign |
Het |
Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
Bptf |
A |
T |
11: 106,953,495 (GRCm39) |
S2082R |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,453,544 (GRCm39) |
T1636A |
probably benign |
Het |
Cep83 |
C |
T |
10: 94,573,839 (GRCm39) |
Q243* |
probably null |
Het |
Dlg5 |
T |
G |
14: 24,226,546 (GRCm39) |
E452A |
probably damaging |
Het |
Dsg1a |
T |
A |
18: 20,473,208 (GRCm39) |
D760E |
probably damaging |
Het |
Elob |
G |
A |
17: 24,043,933 (GRCm39) |
R89C |
probably benign |
Het |
En2 |
T |
C |
5: 28,371,882 (GRCm39) |
S120P |
probably benign |
Het |
Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
Extl2 |
G |
T |
3: 115,820,911 (GRCm39) |
V253F |
probably damaging |
Het |
Fam217a |
T |
C |
13: 35,100,881 (GRCm39) |
E92G |
probably benign |
Het |
Fbxo25 |
A |
T |
8: 13,964,999 (GRCm39) |
K17* |
probably null |
Het |
Fig4 |
A |
T |
10: 41,141,427 (GRCm39) |
S277R |
probably benign |
Het |
Gphn |
T |
C |
12: 78,659,784 (GRCm39) |
S429P |
probably damaging |
Het |
Grm7 |
A |
G |
6: 110,891,297 (GRCm39) |
I177V |
probably benign |
Het |
H13 |
C |
T |
2: 152,531,813 (GRCm39) |
P239L |
possibly damaging |
Het |
Il12rb1 |
T |
A |
8: 71,269,187 (GRCm39) |
S456T |
possibly damaging |
Het |
Irgq |
A |
G |
7: 24,233,209 (GRCm39) |
D350G |
probably benign |
Het |
Isl2 |
T |
C |
9: 55,449,784 (GRCm39) |
S118P |
possibly damaging |
Het |
Itpka |
C |
T |
2: 119,580,341 (GRCm39) |
R329C |
probably damaging |
Het |
Itpripl1 |
G |
T |
2: 126,982,686 (GRCm39) |
Q479K |
probably benign |
Het |
Kbtbd2 |
T |
C |
6: 56,757,341 (GRCm39) |
N132D |
probably damaging |
Het |
Klb |
T |
C |
5: 65,536,878 (GRCm39) |
V736A |
probably damaging |
Het |
Klhl3 |
T |
C |
13: 58,167,242 (GRCm39) |
D374G |
probably damaging |
Het |
Mmp14 |
T |
A |
14: 54,678,125 (GRCm39) |
V582D |
probably damaging |
Het |
Naalad2 |
A |
G |
9: 18,242,134 (GRCm39) |
V590A |
probably damaging |
Het |
Or2n1d |
A |
G |
17: 38,646,197 (GRCm39) |
T50A |
probably benign |
Het |
Or51f1 |
A |
T |
7: 102,506,477 (GRCm39) |
M4K |
probably benign |
Het |
Or7h8 |
T |
G |
9: 20,123,542 (GRCm39) |
|
probably benign |
Het |
Pianp |
T |
C |
6: 124,976,214 (GRCm39) |
S8P |
unknown |
Het |
Ppbp |
T |
C |
5: 90,916,486 (GRCm39) |
S9P |
probably damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,008,752 (GRCm39) |
I696T |
probably benign |
Het |
Psmd5 |
A |
G |
2: 34,760,856 (GRCm39) |
S27P |
probably damaging |
Het |
Ralgapa2 |
T |
A |
2: 146,086,897 (GRCm39) |
R1561S |
|
Het |
Rassf8 |
A |
G |
6: 145,761,429 (GRCm39) |
T252A |
probably benign |
Het |
Rpe65 |
T |
A |
3: 159,319,785 (GRCm39) |
D218E |
probably benign |
Het |
Sec23ip |
G |
A |
7: 128,365,855 (GRCm39) |
V575I |
probably damaging |
Het |
Slco6c1 |
C |
T |
1: 97,003,663 (GRCm39) |
C495Y |
probably damaging |
Het |
Speer4f2 |
C |
A |
5: 17,582,419 (GRCm39) |
T214K |
|
Het |
Stox1 |
A |
G |
10: 62,501,795 (GRCm39) |
L255P |
probably benign |
Het |
Sympk |
A |
G |
7: 18,786,363 (GRCm39) |
M989V |
probably benign |
Het |
Tia1 |
T |
A |
6: 86,402,452 (GRCm39) |
Y202N |
possibly damaging |
Het |
Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
Usp34 |
T |
C |
11: 23,407,811 (GRCm39) |
S2593P |
|
Het |
Vmn2r85 |
A |
G |
10: 130,261,257 (GRCm39) |
V360A |
probably benign |
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 |
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 |
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'- CCACAGTGTTGGGTGTCTTC -3'
(R):5'- ATGCGGGAGAGTTAATGTCC -3'
Sequencing Primer
(F):5'- GACTCTTGGACCTCTGCCCAAG -3'
(R):5'- GGAGAGTTAATGTCCTGTCCCATC -3'
|
Posted On |
2020-10-20 |