Incidental Mutation 'R6292:Slc38a3'
| ID |
508508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a3
|
| Ensembl Gene |
ENSMUSG00000010064 |
| Gene Name |
solute carrier family 38, member 3 |
| Synonyms |
0610012J02Rik, D9Ucla2, Snat3 |
| MMRRC Submission |
044461-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R6292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107528353-107546167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107532353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 393
(I393N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010208]
[ENSMUST00000167868]
[ENSMUST00000177567]
[ENSMUST00000192323]
[ENSMUST00000192990]
[ENSMUST00000193932]
[ENSMUST00000195843]
|
| AlphaFold |
Q9DCP2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010208
AA Change: I393N
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000010208
Gene: ENSMUSG00000010064
AA Change: I393N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167868
AA Change: I393N
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130414
Gene: ENSMUSG00000010064
AA Change: I393N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177567
AA Change: I393N
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137561
Gene: ENSMUSG00000010064
AA Change: I393N
| 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 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 |
possibly damaging
Transcript: ENSMUST00000193932
AA Change: I393N
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142087
Gene: ENSMUSG00000010064
AA Change: I393N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195739
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193495
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195033
|
| Meta Mutation Damage Score |
0.2267 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,338,312 (GRCm39) |
V709E |
probably damaging |
Het |
| Ankrd33b |
C |
T |
15: 31,325,231 (GRCm39) |
|
probably null |
Het |
| Apaf1 |
T |
C |
10: 90,827,425 (GRCm39) |
T1202A |
possibly damaging |
Het |
| Apip |
G |
T |
2: 102,922,812 (GRCm39) |
C210F |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,659,550 (GRCm39) |
H170L |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,378,015 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
A |
15: 81,500,935 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,384 (GRCm39) |
H39Y |
probably damaging |
Het |
| Gdap1l1 |
A |
T |
2: 163,293,427 (GRCm39) |
I218F |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,252 (GRCm39) |
C306S |
probably damaging |
Het |
| Gm9961 |
C |
T |
16: 11,748,336 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr27 |
C |
T |
6: 99,670,619 (GRCm39) |
S327L |
possibly damaging |
Het |
| Hectd3 |
A |
C |
4: 116,856,005 (GRCm39) |
T435P |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,772,133 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Hykk |
T |
C |
9: 54,828,110 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,241,338 (GRCm39) |
S92P |
possibly damaging |
Het |
| Lrig1 |
A |
T |
6: 94,593,426 (GRCm39) |
N418K |
probably damaging |
Het |
| Miga1 |
A |
G |
3: 152,023,356 (GRCm39) |
F232L |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,590,295 (GRCm39) |
M217K |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,474,316 (GRCm39) |
Q1677L |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,579,867 (GRCm39) |
E645G |
probably damaging |
Het |
| Nckap5 |
T |
C |
1: 125,842,752 (GRCm39) |
K1752E |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,507,770 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
T |
C |
3: 110,051,202 (GRCm39) |
|
probably benign |
Het |
| Nup133 |
A |
G |
8: 124,644,176 (GRCm39) |
V730A |
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,063 (GRCm39) |
M1K |
probably null |
Het |
| Or51v14 |
T |
A |
7: 103,261,386 (GRCm39) |
H58L |
probably damaging |
Het |
| Paqr6 |
C |
T |
3: 88,275,205 (GRCm39) |
P213S |
probably damaging |
Het |
| Pign |
A |
T |
1: 105,512,802 (GRCm39) |
V627D |
possibly damaging |
Het |
| Rasal1 |
T |
A |
5: 120,797,685 (GRCm39) |
V139E |
probably damaging |
Het |
| Scgb1b24 |
G |
T |
7: 33,443,577 (GRCm39) |
A79S |
possibly damaging |
Het |
| Slc25a28 |
T |
C |
19: 43,653,031 (GRCm39) |
D210G |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,090,790 (GRCm39) |
N465D |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,608,292 (GRCm39) |
A117V |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,565,780 (GRCm39) |
S872P |
probably damaging |
Het |
| Tdrd3 |
G |
T |
14: 87,743,690 (GRCm39) |
C540F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,319,897 (GRCm39) |
L23Q |
probably benign |
Het |
| Top1 |
A |
T |
2: 160,540,061 (GRCm39) |
Y213F |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
| Unc79 |
C |
A |
12: 103,108,991 (GRCm39) |
A2005D |
possibly damaging |
Het |
| Upb1 |
T |
C |
10: 75,274,005 (GRCm39) |
L344P |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,579 (GRCm39) |
S290C |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,451,152 (GRCm39) |
T729A |
probably damaging |
Het |
| Washc5 |
C |
T |
15: 59,227,783 (GRCm39) |
R393H |
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 |
|
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 |
|
|
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'- AGGGGTCTACCAGGATCTGTAG -3'
(R):5'- CAAGGTGGACCCGTTTGATGTG -3'
Sequencing Primer
(F):5'- GAAGTGAAACTCTCTGTGGCTCTAC -3'
(R):5'- ACCCGTTTGATGTGCTGATC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation