Incidental Mutation 'R5289:Slc38a4'
ID |
424613 |
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 |
042872-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R5289 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
96892701-96953837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 96908229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 171
(F171I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155158
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023101]
[ENSMUST00000166223]
[ENSMUST00000230086]
[ENSMUST00000230907]
[ENSMUST00000231039]
|
AlphaFold |
Q8R1S9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023101
AA Change: F171I
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000023101 Gene: ENSMUSG00000022464 AA Change: F171I
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 |
possibly damaging
Transcript: ENSMUST00000166223
AA Change: F171I
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000127676 Gene: ENSMUSG00000022464 AA Change: F171I
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 |
possibly damaging
Transcript: ENSMUST00000230086
AA Change: F171I
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230907
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231039
AA Change: F171I
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,669,203 (GRCm39) |
V1731A |
probably benign |
Het |
Ahcyl1 |
A |
G |
3: 107,577,206 (GRCm39) |
|
probably null |
Het |
Aox1 |
T |
A |
1: 58,131,717 (GRCm39) |
M1042K |
probably damaging |
Het |
Atp10d |
C |
A |
5: 72,412,466 (GRCm39) |
Q590K |
probably benign |
Het |
Atp8b1 |
G |
T |
18: 64,679,158 (GRCm39) |
N774K |
possibly damaging |
Het |
Atrnl1 |
C |
T |
19: 57,645,514 (GRCm39) |
T458M |
probably damaging |
Het |
Bltp1 |
C |
A |
3: 37,054,258 (GRCm39) |
Q3126K |
probably damaging |
Het |
Cnr1 |
T |
A |
4: 33,943,910 (GRCm39) |
C99* |
probably null |
Het |
Cnr2 |
A |
G |
4: 135,644,318 (GRCm39) |
Y132C |
probably damaging |
Het |
Commd9 |
C |
T |
2: 101,729,239 (GRCm39) |
A115V |
probably benign |
Het |
Diaph3 |
A |
G |
14: 87,219,114 (GRCm39) |
F426S |
probably damaging |
Het |
Diras1 |
G |
A |
10: 80,858,078 (GRCm39) |
Q58* |
probably null |
Het |
Dnaaf6rt |
A |
T |
1: 31,262,608 (GRCm39) |
I197F |
probably benign |
Het |
Dpy19l2 |
A |
G |
9: 24,607,293 (GRCm39) |
L56P |
probably benign |
Het |
Dsc1 |
A |
T |
18: 20,234,910 (GRCm39) |
V248D |
possibly damaging |
Het |
Frem3 |
A |
G |
8: 81,338,948 (GRCm39) |
M414V |
probably benign |
Het |
Frmd4b |
G |
T |
6: 97,279,309 (GRCm39) |
|
probably null |
Het |
Gabarapl2 |
T |
C |
8: 112,669,227 (GRCm39) |
W62R |
probably damaging |
Het |
Glt1d1 |
A |
G |
5: 127,721,420 (GRCm39) |
R36G |
probably benign |
Het |
Grb10 |
T |
C |
11: 11,894,924 (GRCm39) |
|
silent |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Hc |
A |
G |
2: 34,886,026 (GRCm39) |
|
probably null |
Het |
Hgd |
A |
G |
16: 37,448,913 (GRCm39) |
E379G |
possibly damaging |
Het |
Ifi30 |
A |
T |
8: 71,219,245 (GRCm39) |
|
probably benign |
Het |
Iqgap1 |
T |
C |
7: 80,388,472 (GRCm39) |
I842V |
possibly damaging |
Het |
Iqsec3 |
T |
A |
6: 121,363,659 (GRCm39) |
|
probably null |
Het |
Kalrn |
A |
G |
16: 34,072,711 (GRCm39) |
S724P |
possibly damaging |
Het |
Lama2 |
C |
A |
10: 27,088,069 (GRCm39) |
G903* |
probably null |
Het |
Lrrc10 |
T |
C |
10: 116,881,392 (GRCm39) |
V22A |
probably benign |
Het |
Lzts3 |
T |
C |
2: 130,478,021 (GRCm39) |
E245G |
probably benign |
Het |
Man2a1 |
A |
G |
17: 64,958,222 (GRCm39) |
T246A |
probably damaging |
Het |
Mfsd13a |
A |
G |
19: 46,356,719 (GRCm39) |
E240G |
probably benign |
Het |
Mtor |
T |
C |
4: 148,550,549 (GRCm39) |
I735T |
possibly damaging |
Het |
Naa15 |
A |
T |
3: 51,363,315 (GRCm39) |
H333L |
probably damaging |
Het |
Nes |
C |
A |
3: 87,885,725 (GRCm39) |
T1284K |
probably damaging |
Het |
Nexn |
T |
G |
3: 151,953,709 (GRCm39) |
H173P |
probably benign |
Het |
Nid2 |
T |
C |
14: 19,855,379 (GRCm39) |
V1173A |
possibly damaging |
Het |
Npepps |
A |
G |
11: 97,131,753 (GRCm39) |
|
probably null |
Het |
Pgm1 |
T |
A |
4: 99,824,266 (GRCm39) |
M313K |
probably damaging |
Het |
Plag1 |
T |
A |
4: 3,905,545 (GRCm39) |
K48N |
probably damaging |
Het |
Prok1 |
G |
C |
3: 107,146,935 (GRCm39) |
L11V |
probably benign |
Het |
Ptpn9 |
T |
C |
9: 56,967,347 (GRCm39) |
|
probably null |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Sycp1 |
A |
T |
3: 102,841,569 (GRCm39) |
N78K |
possibly damaging |
Het |
Tas2r110 |
T |
C |
6: 132,844,972 (GRCm39) |
M1T |
probably null |
Het |
Thoc2l |
G |
A |
5: 104,667,523 (GRCm39) |
V682I |
probably benign |
Het |
Tmem260 |
G |
A |
14: 48,724,267 (GRCm39) |
V182M |
possibly damaging |
Het |
Tmem30a |
A |
T |
9: 79,683,436 (GRCm39) |
N144K |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,691,866 (GRCm39) |
L219P |
probably damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,049,398 (GRCm39) |
S784P |
probably damaging |
Het |
Vwf |
T |
C |
6: 125,644,473 (GRCm39) |
|
probably benign |
Het |
Wdr62 |
A |
C |
7: 29,967,300 (GRCm39) |
V318G |
probably damaging |
Het |
Zfp398 |
T |
A |
6: 47,840,115 (GRCm39) |
S115T |
probably benign |
Het |
Zfp62 |
T |
A |
11: 49,107,975 (GRCm39) |
C689S |
probably damaging |
Het |
Zmynd15 |
C |
G |
11: 70,356,830 (GRCm39) |
P580R |
unknown |
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 |
R4261: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 |
|
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'- GTTGCCGTTGAGGTACCATTC -3'
(R):5'- CAGACGTCTGCTTATGAAGGG -3'
Sequencing Primer
(F):5'- CGTTGAGGTACCATTCCCTAGAAAAG -3'
(R):5'- TACAGAGTACATGGGGCCTTCTC -3'
|
Posted On |
2016-08-04 |