Incidental Mutation 'R0919:Slc38a3'
| ID |
82782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a3
|
| Ensembl Gene |
ENSMUSG00000010064 |
| Gene Name |
solute carrier family 38, member 3 |
| Synonyms |
0610012J02Rik, D9Ucla2, Snat3 |
| MMRRC Submission |
039069-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R0919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107528353-107546167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107533158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 305
(L305Q)
|
| 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 damaging
Transcript: ENSMUST00000010208
AA Change: L305Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010208
Gene: ENSMUSG00000010064
AA Change: L305Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167868
AA Change: L305Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130414
Gene: ENSMUSG00000010064
AA Change: L305Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177567
AA Change: L305Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137561
Gene: ENSMUSG00000010064
AA Change: L305Q
| 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: L62Q
|
| 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 damaging
Transcript: ENSMUST00000193932
AA Change: L305Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142087
Gene: ENSMUSG00000010064
AA Change: L305Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195739
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194895
|
| 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 |
|
| Meta Mutation Damage Score |
0.2928 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
96% (43/45) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
C |
A |
18: 65,440,544 (GRCm39) |
C283F |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,459,651 (GRCm39) |
R1803G |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,012,979 (GRCm39) |
V423A |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,465,483 (GRCm39) |
I2120T |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,968,143 (GRCm39) |
H1109Q |
probably benign |
Het |
| Cfap418 |
A |
G |
4: 10,882,462 (GRCm39) |
T124A |
probably benign |
Het |
| Cfap70 |
G |
A |
14: 20,454,232 (GRCm39) |
P851S |
probably benign |
Het |
| Clcf1 |
T |
A |
19: 4,272,252 (GRCm39) |
L103Q |
probably damaging |
Het |
| Col11a2 |
T |
A |
17: 34,278,124 (GRCm39) |
V1032E |
possibly damaging |
Het |
| Cyp2c38 |
T |
G |
19: 39,393,113 (GRCm39) |
D318A |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,345,774 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx34 |
A |
C |
7: 15,935,883 (GRCm39) |
V893G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,828 (GRCm39) |
C3854S |
possibly damaging |
Het |
| Htr1a |
T |
C |
13: 105,581,344 (GRCm39) |
Y195H |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,208,769 (GRCm39) |
S1231P |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kpna4 |
A |
T |
3: 68,993,161 (GRCm39) |
|
probably benign |
Het |
| Or52d13 |
A |
G |
7: 103,110,019 (GRCm39) |
I132T |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,624,519 (GRCm39) |
Y228* |
probably null |
Het |
| Or5m3 |
A |
G |
2: 85,838,984 (GRCm39) |
Y288C |
possibly damaging |
Het |
| Osbpl7 |
G |
A |
11: 96,946,927 (GRCm39) |
R239H |
possibly damaging |
Het |
| Prkce |
G |
A |
17: 86,937,588 (GRCm39) |
V674I |
probably benign |
Het |
| Prkrip1 |
T |
C |
5: 136,226,685 (GRCm39) |
M52V |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,605,843 (GRCm39) |
M849T |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,247,395 (GRCm39) |
L906S |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,582,382 (GRCm39) |
L676P |
probably benign |
Het |
| Sgsm1 |
C |
T |
5: 113,406,708 (GRCm39) |
V923I |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,949,223 (GRCm39) |
Y232C |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,979,259 (GRCm39) |
|
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,095 (GRCm39) |
I414V |
probably damaging |
Het |
| Tbc1d12 |
C |
T |
19: 38,902,493 (GRCm39) |
H551Y |
possibly damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Trpc7 |
C |
T |
13: 56,970,462 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
G |
A |
2: 126,673,158 (GRCm39) |
R532C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,777,086 (GRCm39) |
K1485* |
probably null |
Het |
| Txn2 |
T |
C |
15: 77,811,949 (GRCm39) |
D69G |
probably damaging |
Het |
| U2af2 |
C |
T |
7: 5,072,433 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,882,255 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,200,603 (GRCm39) |
|
probably benign |
Het |
| Usp49 |
T |
A |
17: 47,983,376 (GRCm39) |
V127D |
probably benign |
Het |
| Washc2 |
C |
T |
6: 116,185,225 (GRCm39) |
R20W |
probably damaging |
Het |
| Zscan10 |
T |
C |
17: 23,828,981 (GRCm39) |
S476P |
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 |
|
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'- TCCCACTCTTATCAACCGTGGAGAC -3'
(R):5'- TCCTTGCCCATTGGCACACAAC -3'
Sequencing Primer
(F):5'- ATCAACCGTGGAGACCTTTG -3'
(R):5'- GCAACTTCAGCCACATGGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation