Incidental Mutation 'R8823:Slc38a3'
| ID |
673281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a3
|
| Ensembl Gene |
ENSMUSG00000010064 |
| Gene Name |
solute carrier family 38, member 3 |
| Synonyms |
0610012J02Rik, D9Ucla2, Snat3 |
| MMRRC Submission |
068656-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R8823 (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 C
at 107533150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 308
(Y308D)
|
| 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 damaging
Transcript: ENSMUST00000010208
AA Change: Y308D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010208
Gene: ENSMUSG00000010064
AA Change: Y308D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167868
AA Change: Y308D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130414
Gene: ENSMUSG00000010064
AA Change: Y308D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
1.8e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177567
AA Change: Y308D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137561
Gene: ENSMUSG00000010064
AA Change: Y308D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
63 |
492 |
5.5e-110 |
PFAM |
|
| Predicted Effect |
|
| 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: Y308D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142087
Gene: ENSMUSG00000010064
AA Change: Y308D
| 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: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (46/46) |
| 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 |
|---|
| Adam24 |
T |
A |
8: 41,133,228 (GRCm39) |
I232K |
probably benign |
Het |
| Ap5z1 |
T |
C |
5: 142,460,191 (GRCm39) |
L506P |
probably benign |
Het |
| Atg5lrt |
A |
T |
10: 95,972,633 (GRCm39) |
I57F |
possibly damaging |
Het |
| Ceacam20 |
A |
T |
7: 19,705,429 (GRCm39) |
Y140F |
probably damaging |
Het |
| Chfr |
G |
A |
5: 110,300,258 (GRCm39) |
R334H |
probably damaging |
Het |
| Emx2 |
A |
G |
19: 59,447,880 (GRCm39) |
H78R |
probably damaging |
Het |
| Etnppl |
G |
A |
3: 130,420,195 (GRCm39) |
G204R |
probably damaging |
Het |
| Fah |
A |
G |
7: 84,254,925 (GRCm39) |
F3L |
possibly damaging |
Het |
| Galnt12 |
G |
T |
4: 47,091,928 (GRCm39) |
|
probably benign |
Het |
| Gbx1 |
A |
G |
5: 24,710,051 (GRCm39) |
S265P |
probably damaging |
Het |
| Gm17087 |
A |
G |
17: 8,785,233 (GRCm39) |
*157R |
probably null |
Het |
| Grin2a |
T |
A |
16: 9,487,758 (GRCm39) |
N380I |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,811,856 (GRCm39) |
T269I |
|
Het |
| Hace1 |
T |
C |
10: 45,524,956 (GRCm39) |
Y241H |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,722 (GRCm39) |
D291G |
possibly damaging |
Het |
| Ifi208 |
A |
G |
1: 173,511,102 (GRCm39) |
Y419C |
probably damaging |
Het |
| Ighv8-5 |
A |
G |
12: 115,031,267 (GRCm39) |
S91P |
probably damaging |
Het |
| Igkv15-103 |
T |
C |
6: 68,414,855 (GRCm39) |
L98P |
probably damaging |
Het |
| Igsf5 |
C |
T |
16: 96,222,939 (GRCm39) |
S61L |
possibly damaging |
Het |
| Ipo9 |
A |
G |
1: 135,347,077 (GRCm39) |
W138R |
probably damaging |
Het |
| Kank4 |
A |
T |
4: 98,668,240 (GRCm39) |
L69Q |
probably damaging |
Het |
| Kcnd3 |
T |
C |
3: 105,574,330 (GRCm39) |
I505T |
probably benign |
Het |
| Lrtm2 |
T |
A |
6: 119,294,193 (GRCm39) |
I313F |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,040,648 (GRCm39) |
I733F |
possibly damaging |
Het |
| Myh2 |
A |
T |
11: 67,076,300 (GRCm39) |
R800S |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,492,571 (GRCm39) |
I728N |
possibly damaging |
Het |
| Or10a3n |
A |
G |
7: 108,493,155 (GRCm39) |
I158T |
probably benign |
Het |
| Pdcd1 |
T |
C |
1: 93,969,220 (GRCm39) |
R33G |
probably benign |
Het |
| Polr1b |
T |
C |
2: 128,967,457 (GRCm39) |
F950S |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,384,282 (GRCm39) |
M697K |
probably benign |
Het |
| Psmc2 |
T |
A |
5: 22,005,574 (GRCm39) |
D218E |
probably damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,203,621 (GRCm39) |
Y386H |
probably damaging |
Het |
| Rilpl2 |
C |
T |
5: 124,606,716 (GRCm39) |
R166K |
possibly damaging |
Het |
| Rtn4 |
T |
A |
11: 29,656,609 (GRCm39) |
N254K |
probably benign |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sesn3 |
T |
A |
9: 14,221,536 (GRCm39) |
|
probably benign |
Het |
| Slc35b2 |
T |
A |
17: 45,877,894 (GRCm39) |
H291Q |
probably damaging |
Het |
| Snrpd2 |
T |
C |
7: 18,886,535 (GRCm39) |
V106A |
probably benign |
Het |
| Sybu |
C |
A |
15: 44,540,998 (GRCm39) |
A355S |
possibly damaging |
Het |
| Tes3-ps |
A |
T |
13: 49,647,692 (GRCm39) |
R189S |
probably benign |
Het |
| Trmo |
T |
C |
4: 46,382,604 (GRCm39) |
D164G |
probably damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,823 (GRCm39) |
Q88R |
probably benign |
Het |
| Xkr9 |
T |
C |
1: 13,742,832 (GRCm39) |
V39A |
probably benign |
Het |
| Xpo1 |
A |
T |
11: 23,217,752 (GRCm39) |
M73L |
probably benign |
Het |
| Zbtb21 |
G |
A |
16: 97,752,516 (GRCm39) |
T589I |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,350,892 (GRCm39) |
K2E |
probably damaging |
Het |
| Zfp105 |
A |
G |
9: 122,759,568 (GRCm39) |
K413R |
possibly 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 |
|
|
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 |
|
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'- AAGCCATGCTGTGATACCTG -3'
(R):5'- GCAACTTCAGCCACATGGTG -3'
Sequencing Primer
(F):5'- ACCTGTTTATATCTGAGGGGTCTCC -3'
(R):5'- TGAGGCCTTCTGTACCCCAAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation