Incidental Mutation 'R4535:Slc38a3'
| ID |
333293 |
| 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 # |
R4535 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107528353-107546167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107533405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 251
(N251S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142087
(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: N251S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000010208
Gene: ENSMUSG00000010064
AA Change: N251S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167868
AA Change: N251S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000130414
Gene: ENSMUSG00000010064
AA Change: N251S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177567
AA Change: N251S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000137561
Gene: ENSMUSG00000010064
AA Change: N251S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
5.5e-110 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191923
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000192211
AA Change: N8S
|
| 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
AA Change: N251S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142087
Gene: ENSMUSG00000010064
AA Change: N251S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195739
AA Change: N57S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194895
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
| Azin1 |
A |
T |
15: 38,493,849 (GRCm39) |
I258N |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,989,574 (GRCm39) |
A383V |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cd4 |
A |
T |
6: 124,847,414 (GRCm39) |
F250Y |
probably benign |
Het |
| Clcn4 |
T |
A |
7: 7,290,813 (GRCm39) |
Y662F |
probably benign |
Het |
| Cpa2 |
T |
C |
6: 30,552,020 (GRCm39) |
V249A |
probably benign |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,511 (GRCm39) |
Y365H |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,322 (GRCm39) |
E457G |
probably benign |
Het |
| Eef2k |
T |
A |
7: 120,457,822 (GRCm39) |
Y60* |
probably null |
Het |
| Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Fam178b |
A |
T |
1: 36,639,606 (GRCm39) |
D293E |
probably benign |
Het |
| Fbxl21 |
G |
A |
13: 56,674,873 (GRCm39) |
V49I |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,736 (GRCm39) |
E82G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,439,531 (GRCm39) |
I5434T |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Iqsec3 |
T |
C |
6: 121,356,977 (GRCm39) |
K1035E |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,223,174 (GRCm39) |
V102D |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,698,016 (GRCm39) |
T295A |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,871,611 (GRCm39) |
D397V |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,081,013 (GRCm39) |
V585A |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,602,627 (GRCm39) |
T594A |
probably damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
| Sesn3 |
C |
A |
9: 14,233,954 (GRCm39) |
T309K |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,067,127 (GRCm39) |
V614A |
probably damaging |
Het |
| Srsf4 |
A |
G |
4: 131,601,175 (GRCm39) |
K34R |
probably damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Utp3 |
T |
C |
5: 88,703,458 (GRCm39) |
V329A |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,541 (GRCm39) |
W204R |
probably damaging |
Het |
| Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
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 |
|
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 |
|
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'- ACACAAAGGACTATGTCAAGGC -3'
(R):5'- TCAGAAAAGAGCAGTGGCCC -3'
Sequencing Primer
(F):5'- AGGACTATGTCAAGGCAGCCC -3'
(R):5'- CGAGGGAGTCCTGTGTCAGAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation