Incidental Mutation 'R9000:Slc38a4'
| ID |
684937 |
| 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 |
068831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R9000 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96892701-96953837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96897475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 447
(P447S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023101]
[ENSMUST00000166223]
[ENSMUST00000230086]
[ENSMUST00000231039]
|
| AlphaFold |
Q8R1S9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023101
AA Change: P447S
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
AA Change: P447S
| 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: P447S
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
AA Change: P447S
| 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: P447S
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231039
AA Change: P447S
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
90% (55/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,353,195 (GRCm39) |
N749S |
probably damaging |
Het |
| Acsl5 |
T |
C |
19: 55,283,943 (GRCm39) |
*684Q |
probably null |
Het |
| Actr5 |
A |
T |
2: 158,478,610 (GRCm39) |
T487S |
probably benign |
Het |
| Adam18 |
T |
A |
8: 25,127,162 (GRCm39) |
H478L |
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,294,372 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,854,570 (GRCm39) |
N475S |
probably benign |
Het |
| Akap9 |
G |
A |
5: 4,105,650 (GRCm39) |
R2907H |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,476,628 (GRCm39) |
V1330A |
probably damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,637,333 (GRCm39) |
M443K |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,254,725 (GRCm39) |
H753Q |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,065,281 (GRCm39) |
H311R |
|
Het |
| Cdh23 |
A |
G |
10: 60,140,277 (GRCm39) |
Y3222H |
possibly damaging |
Het |
| Ces2f |
A |
G |
8: 105,677,661 (GRCm39) |
D222G |
probably benign |
Het |
| Cnot9 |
C |
T |
1: 74,561,544 (GRCm39) |
R130C |
probably benign |
Het |
| Cntnap2 |
G |
A |
6: 46,461,139 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,769,197 (GRCm39) |
L932P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 37,074,643 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
A |
C |
12: 110,606,397 (GRCm39) |
Q2489P |
probably benign |
Het |
| Elovl2 |
A |
G |
13: 41,338,810 (GRCm39) |
L280S |
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,497,587 (GRCm39) |
Y4357* |
probably null |
Het |
| Fat3 |
T |
A |
9: 15,871,816 (GRCm39) |
Q3525L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,918,095 (GRCm39) |
I1443V |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,806,211 (GRCm39) |
I457T |
probably damaging |
Het |
| Kcnq5 |
G |
T |
1: 21,557,483 (GRCm39) |
F332L |
probably damaging |
Het |
| Meiob |
A |
G |
17: 25,047,916 (GRCm39) |
|
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,769 (GRCm39) |
L53P |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,901,740 (GRCm39) |
V832I |
unknown |
Het |
| Nckap5l |
G |
A |
15: 99,321,310 (GRCm39) |
P1186S |
probably damaging |
Het |
| Ndufa4l2 |
A |
T |
10: 127,350,898 (GRCm39) |
R16S |
probably benign |
Het |
| Nrg2 |
T |
C |
18: 36,151,682 (GRCm39) |
Y620C |
probably damaging |
Het |
| Or4p4b-ps1 |
T |
A |
2: 88,454,525 (GRCm39) |
*293R |
probably null |
Het |
| Or52a24 |
T |
C |
7: 103,381,672 (GRCm39) |
S180P |
probably damaging |
Het |
| Pip4k2a |
T |
G |
2: 18,877,240 (GRCm39) |
Y165S |
possibly damaging |
Het |
| Plcd4 |
T |
A |
1: 74,601,024 (GRCm39) |
C500* |
probably null |
Het |
| Plcl1 |
C |
T |
1: 55,736,990 (GRCm39) |
P777L |
probably damaging |
Het |
| Pnliprp2 |
T |
C |
19: 58,762,555 (GRCm39) |
Y387H |
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,595,470 (GRCm39) |
D1119E |
probably benign |
Het |
| Prss51 |
T |
C |
14: 64,332,420 (GRCm39) |
S36P |
possibly damaging |
Het |
| Prune1 |
A |
G |
3: 95,162,635 (GRCm39) |
V346A |
probably benign |
Het |
| Saxo5 |
T |
C |
8: 3,526,083 (GRCm39) |
S79P |
possibly damaging |
Het |
| Scn5a |
T |
C |
9: 119,321,171 (GRCm39) |
T1464A |
possibly damaging |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GGGG |
GGGGCCCAGCTCAGCCACAGGG |
7: 126,066,743 (GRCm39) |
|
probably benign |
Het |
| Sim1 |
T |
G |
10: 50,860,316 (GRCm39) |
I726S |
probably benign |
Het |
| Sim1 |
T |
G |
10: 50,860,317 (GRCm39) |
I726M |
possibly damaging |
Het |
| Slc5a12 |
A |
G |
2: 110,454,525 (GRCm39) |
E362G |
probably damaging |
Het |
| Slc5a8 |
C |
A |
10: 88,762,089 (GRCm39) |
N576K |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,762,090 (GRCm39) |
Y577N |
probably benign |
Het |
| Snn |
A |
G |
16: 10,890,322 (GRCm39) |
E47G |
probably damaging |
Het |
| Snx19 |
T |
C |
9: 30,375,619 (GRCm39) |
V207A |
unknown |
Het |
| Srcap |
G |
A |
7: 127,130,943 (GRCm39) |
V720I |
possibly damaging |
Het |
| Syn3 |
T |
A |
10: 85,893,489 (GRCm39) |
R451S |
unknown |
Het |
| Tdrp |
A |
G |
8: 14,003,989 (GRCm39) |
V116A |
probably benign |
Het |
| Tef |
G |
A |
15: 81,695,773 (GRCm39) |
M1I |
probably null |
Het |
| Vmn1r232 |
T |
C |
17: 21,134,111 (GRCm39) |
K163R |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,986,711 (GRCm39) |
E164G |
probably damaging |
Het |
| Zcchc14 |
T |
G |
8: 122,336,880 (GRCm39) |
H178P |
unknown |
Het |
| Zfp37 |
T |
G |
4: 62,126,651 (GRCm39) |
K69T |
unknown |
Het |
| Zfp947 |
A |
G |
17: 22,365,161 (GRCm39) |
L171P |
probably benign |
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 |
|
|
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 |
|
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'- CGTCTCCGTATTTGCCATTTAAGG -3'
(R):5'- AACGCGTGATATGCAACCAAG -3'
Sequencing Primer
(F):5'- CCATTTAAGGCGGTCTTAAGTC -3'
(R):5'- TCGGCATGAAGTTTGCACAGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation