Incidental Mutation 'R4261:Slc38a4'
ID |
322673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc38a4
|
Ensembl Gene |
ENSMUSG00000022464 |
Gene Name |
solute carrier family 38, member 4 |
Synonyms |
Ata3, SNAT4, 1700012A18Rik, 1110012E16Rik |
MMRRC Submission |
041074-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R4261 (G1)
|
Quality Score |
104 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
96892701-96953837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96896374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 498
(Y498H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155158
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023101]
[ENSMUST00000166223]
[ENSMUST00000230086]
[ENSMUST00000231039]
|
AlphaFold |
Q8R1S9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023101
AA Change: Y498H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023101 Gene: ENSMUSG00000022464 AA Change: Y498H
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
73 |
263 |
4.9e-38 |
PFAM |
Pfam:Aa_trans
|
302 |
535 |
2.1e-45 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166223
AA Change: Y498H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127676 Gene: ENSMUSG00000022464 AA Change: Y498H
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
73 |
262 |
2.5e-38 |
PFAM |
Pfam:Aa_trans
|
303 |
535 |
2.5e-45 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230086
AA Change: Y498H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231039
AA Change: Y498H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.8773 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
96% (53/55) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
Adam9 |
G |
A |
8: 25,454,923 (GRCm39) |
Q733* |
probably null |
Het |
Adamts4 |
C |
T |
1: 171,086,673 (GRCm39) |
P822S |
probably benign |
Het |
Arhgap9 |
G |
C |
10: 127,164,334 (GRCm39) |
R537P |
probably damaging |
Het |
Bsn |
T |
A |
9: 107,987,883 (GRCm39) |
|
probably benign |
Het |
Car5a |
A |
T |
8: 122,671,488 (GRCm39) |
H15Q |
probably benign |
Het |
Disp1 |
A |
T |
1: 182,870,950 (GRCm39) |
I490N |
probably damaging |
Het |
Dlgap5 |
T |
G |
14: 47,651,245 (GRCm39) |
Y96S |
probably damaging |
Het |
Dnah10 |
T |
A |
5: 124,807,201 (GRCm39) |
V162D |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,892,123 (GRCm39) |
M821K |
possibly damaging |
Het |
Exoc3l |
T |
C |
8: 106,017,599 (GRCm39) |
R528G |
probably damaging |
Het |
Fam234b |
G |
A |
6: 135,186,134 (GRCm39) |
G17E |
unknown |
Het |
Grhl2 |
G |
A |
15: 37,361,067 (GRCm39) |
G617D |
possibly damaging |
Het |
Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
Hoxd9 |
C |
A |
2: 74,526,031 (GRCm39) |
|
probably benign |
Het |
Hspa9 |
A |
G |
18: 35,072,476 (GRCm39) |
S550P |
probably damaging |
Het |
Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
Kat6b |
T |
A |
14: 21,719,737 (GRCm39) |
I1363N |
probably damaging |
Het |
Ltbp1 |
T |
A |
17: 75,598,362 (GRCm39) |
C614* |
probably null |
Het |
Mphosph8 |
A |
G |
14: 56,911,922 (GRCm39) |
D315G |
probably benign |
Het |
Mthfr-ps1 |
A |
C |
5: 78,622,330 (GRCm39) |
|
noncoding transcript |
Het |
Mug1 |
A |
G |
6: 121,850,693 (GRCm39) |
T730A |
probably benign |
Het |
Myef2 |
T |
C |
2: 124,957,399 (GRCm39) |
T119A |
possibly damaging |
Het |
Pald1 |
A |
G |
10: 61,179,471 (GRCm39) |
L466P |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,481,512 (GRCm39) |
V286M |
probably damaging |
Het |
Pcdhgb2 |
A |
G |
18: 37,824,950 (GRCm39) |
D647G |
probably damaging |
Het |
Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
Pkp4 |
A |
G |
2: 59,135,506 (GRCm39) |
Y126C |
probably damaging |
Het |
Plppr1 |
A |
G |
4: 49,300,993 (GRCm39) |
I109V |
probably benign |
Het |
Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
Ppp2r5d |
G |
A |
17: 46,998,007 (GRCm39) |
Q219* |
probably null |
Het |
Raf1 |
C |
T |
6: 115,600,015 (GRCm39) |
|
probably null |
Het |
Rfx7 |
C |
T |
9: 72,523,925 (GRCm39) |
R372W |
probably damaging |
Het |
Robo4 |
C |
A |
9: 37,316,877 (GRCm39) |
S397R |
probably benign |
Het |
Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
Serpina1c |
T |
C |
12: 103,863,339 (GRCm39) |
K287R |
probably benign |
Het |
Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,628,384 (GRCm39) |
Y14592F |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,536,489 (GRCm39) |
F245S |
possibly damaging |
Het |
Ugt3a1 |
G |
A |
15: 9,335,879 (GRCm39) |
|
probably null |
Het |
Wdr91 |
T |
A |
6: 34,881,457 (GRCm39) |
S297C |
possibly damaging |
Het |
Zcwpw2 |
T |
C |
9: 117,827,982 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Slc38a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Slc38a4
|
APN |
15 |
96,917,690 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00229:Slc38a4
|
APN |
15 |
96,897,375 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00974:Slc38a4
|
APN |
15 |
96,897,397 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01951:Slc38a4
|
APN |
15 |
96,917,644 (GRCm39) |
missense |
probably benign |
0.07 |
R0012:Slc38a4
|
UTSW |
15 |
96,897,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R0012:Slc38a4
|
UTSW |
15 |
96,897,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R0165:Slc38a4
|
UTSW |
15 |
96,906,830 (GRCm39) |
missense |
probably benign |
0.00 |
R0304:Slc38a4
|
UTSW |
15 |
96,906,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R0543:Slc38a4
|
UTSW |
15 |
96,914,720 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0973:Slc38a4
|
UTSW |
15 |
96,903,739 (GRCm39) |
missense |
probably benign |
0.04 |
R0973:Slc38a4
|
UTSW |
15 |
96,903,739 (GRCm39) |
missense |
probably benign |
0.04 |
R0974:Slc38a4
|
UTSW |
15 |
96,903,739 (GRCm39) |
missense |
probably benign |
0.04 |
R1340:Slc38a4
|
UTSW |
15 |
96,908,153 (GRCm39) |
splice site |
probably benign |
|
R1973:Slc38a4
|
UTSW |
15 |
96,897,478 (GRCm39) |
missense |
probably benign |
0.36 |
R2058:Slc38a4
|
UTSW |
15 |
96,906,606 (GRCm39) |
missense |
probably benign |
0.22 |
R2083:Slc38a4
|
UTSW |
15 |
96,906,874 (GRCm39) |
missense |
probably benign |
0.00 |
R2108:Slc38a4
|
UTSW |
15 |
96,906,878 (GRCm39) |
missense |
probably benign |
|
R3908:Slc38a4
|
UTSW |
15 |
96,910,875 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4037:Slc38a4
|
UTSW |
15 |
96,894,923 (GRCm39) |
missense |
probably benign |
0.03 |
R4259:Slc38a4
|
UTSW |
15 |
96,896,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R4260:Slc38a4
|
UTSW |
15 |
96,896,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R4370:Slc38a4
|
UTSW |
15 |
96,906,965 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4435:Slc38a4
|
UTSW |
15 |
96,906,899 (GRCm39) |
missense |
probably benign |
|
R5289:Slc38a4
|
UTSW |
15 |
96,908,229 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5638:Slc38a4
|
UTSW |
15 |
96,910,871 (GRCm39) |
missense |
probably damaging |
0.99 |
R5893:Slc38a4
|
UTSW |
15 |
96,897,432 (GRCm39) |
missense |
probably benign |
0.23 |
R7059:Slc38a4
|
UTSW |
15 |
96,906,895 (GRCm39) |
nonsense |
probably null |
|
R7223:Slc38a4
|
UTSW |
15 |
96,908,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R7267:Slc38a4
|
UTSW |
15 |
96,903,781 (GRCm39) |
missense |
probably benign |
0.01 |
R7768:Slc38a4
|
UTSW |
15 |
96,906,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R7903:Slc38a4
|
UTSW |
15 |
96,906,809 (GRCm39) |
missense |
probably benign |
0.03 |
R8314:Slc38a4
|
UTSW |
15 |
96,908,190 (GRCm39) |
missense |
probably benign |
0.10 |
R8385:Slc38a4
|
UTSW |
15 |
96,897,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Slc38a4
|
UTSW |
15 |
96,906,952 (GRCm39) |
missense |
probably benign |
0.12 |
R8955:Slc38a4
|
UTSW |
15 |
96,914,662 (GRCm39) |
missense |
probably benign |
|
R8962:Slc38a4
|
UTSW |
15 |
96,917,684 (GRCm39) |
missense |
probably benign |
0.00 |
R9000:Slc38a4
|
UTSW |
15 |
96,897,475 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9043:Slc38a4
|
UTSW |
15 |
96,906,805 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9760:Slc38a4
|
UTSW |
15 |
96,896,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R9786:Slc38a4
|
UTSW |
15 |
96,906,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GAATCCTCGGATGGTCACAGAC -3'
(R):5'- AGATGACCTATGGCTTAAATGTTGC -3'
Sequencing Primer
(F):5'- GGTCACAGACCCTCTCTACC -3'
(R):5'- TGGCTTAAATGTTGCTTTTAATGC -3'
|
Posted On |
2015-06-20 |