Incidental Mutation 'R8142:Slc1a4'
| ID |
632594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc1a4
|
| Ensembl Gene |
ENSMUSG00000020142 |
| Gene Name |
solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 |
| Synonyms |
ASCT1 |
| MMRRC Submission |
067570-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8142 (G1)
|
| Quality Score |
172.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
20252180-20282713 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 20257890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004634]
[ENSMUST00000109594]
|
| AlphaFold |
O35874 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004634
|
| SMART Domains |
Protein: ENSMUSP00000004634
Gene: ENSMUSG00000020142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
1 |
397 |
2.7e-121 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109594
|
| SMART Domains |
Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
44 |
477 |
4.2e-121 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 91.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v1e2 |
A |
T |
17: 87,252,083 (GRCm39) |
I105N |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,909,465 (GRCm39) |
S980P |
probably damaging |
Het |
| Ccno |
T |
G |
13: 113,125,489 (GRCm39) |
L151R |
probably damaging |
Het |
| Cdh2 |
A |
C |
18: 16,734,791 (GRCm39) |
I801S |
probably benign |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dab1 |
T |
A |
4: 104,535,921 (GRCm39) |
V110D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,660,189 (GRCm39) |
T828A |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,384,519 (GRCm39) |
V3088L |
probably benign |
Het |
| Dtd2 |
T |
A |
12: 52,046,593 (GRCm39) |
D82V |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,525,912 (GRCm39) |
F185L |
probably damaging |
Het |
| Epha10 |
A |
G |
4: 124,779,639 (GRCm39) |
T162A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,945,352 (GRCm39) |
D1415V |
probably damaging |
Het |
| Fitm1 |
T |
C |
14: 55,813,247 (GRCm39) |
Y37H |
possibly damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,782 (GRCm39) |
E1651* |
probably null |
Het |
| Ifit3 |
G |
T |
19: 34,564,901 (GRCm39) |
C149F |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,622,616 (GRCm39) |
H465Q |
possibly damaging |
Het |
| Ltn1 |
A |
C |
16: 87,178,529 (GRCm39) |
S1567A |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,908,778 (GRCm39) |
V166A |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,737,448 (GRCm39) |
H424R |
possibly damaging |
Het |
| Mypop |
A |
G |
7: 18,735,051 (GRCm39) |
T383A |
unknown |
Het |
| Ngef |
G |
C |
1: 87,468,463 (GRCm39) |
R99G |
probably benign |
Het |
| Nherf4 |
A |
G |
9: 44,162,078 (GRCm39) |
|
probably null |
Het |
| Npepps |
G |
T |
11: 97,109,398 (GRCm39) |
A726D |
probably damaging |
Het |
| Or6c63-ps1 |
T |
A |
10: 128,900,519 (GRCm39) |
D9V |
probably benign |
Het |
| Pcdhgb4 |
A |
G |
18: 37,854,166 (GRCm39) |
D187G |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,349,269 (GRCm39) |
E1034G |
possibly damaging |
Het |
| Pira1 |
A |
G |
7: 3,739,842 (GRCm39) |
S418P |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,378,327 (GRCm39) |
R1027H |
probably benign |
Het |
| Pon2 |
A |
T |
6: 5,266,239 (GRCm39) |
V260D |
probably benign |
Het |
| Rnase13 |
A |
G |
14: 52,159,893 (GRCm39) |
I82T |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,546,608 (GRCm39) |
S194P |
probably benign |
Het |
| Serpinb6c |
T |
A |
13: 34,064,096 (GRCm39) |
I320L |
probably benign |
Het |
| Sh3rf3 |
C |
T |
10: 58,885,205 (GRCm39) |
R363* |
probably null |
Het |
| Slc11a1 |
T |
C |
1: 74,424,418 (GRCm39) |
F500L |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,219,958 (GRCm39) |
N362S |
possibly damaging |
Het |
| Stau2 |
A |
G |
1: 16,530,575 (GRCm39) |
S115P |
unknown |
Het |
| Stk38l |
A |
G |
6: 146,660,070 (GRCm39) |
N34S |
probably benign |
Het |
| Tmem201 |
T |
C |
4: 149,803,114 (GRCm39) |
T585A |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,744,258 (GRCm39) |
I1297F |
possibly damaging |
Het |
| Uncx |
A |
G |
5: 139,532,655 (GRCm39) |
D240G |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,564 (GRCm39) |
I293V |
|
Het |
| Vps11 |
T |
C |
9: 44,265,852 (GRCm39) |
T476A |
probably benign |
Het |
| Vrtn |
T |
C |
12: 84,697,395 (GRCm39) |
L715P |
probably damaging |
Het |
| Wdr72 |
T |
G |
9: 74,046,949 (GRCm39) |
V65G |
probably damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,752,675 (GRCm39) |
E536G |
probably damaging |
Het |
| Zbtb34 |
G |
T |
2: 33,302,493 (GRCm39) |
S16* |
probably null |
Het |
| Zfhx2 |
G |
A |
14: 55,310,895 (GRCm39) |
L600F |
possibly damaging |
Het |
|
| Other mutations in Slc1a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Slc1a4
|
APN |
11 |
20,258,644 (GRCm39) |
splice site |
probably benign |
|
|
IGL01889:Slc1a4
|
APN |
11 |
20,264,089 (GRCm39) |
splice site |
probably benign |
|
|
IGL02725:Slc1a4
|
APN |
11 |
20,258,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03409:Slc1a4
|
APN |
11 |
20,256,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Slc1a4
|
UTSW |
11 |
20,282,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Slc1a4
|
UTSW |
11 |
20,254,510 (GRCm39) |
splice site |
probably benign |
|
|
R0771:Slc1a4
|
UTSW |
11 |
20,256,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0898:Slc1a4
|
UTSW |
11 |
20,254,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1326:Slc1a4
|
UTSW |
11 |
20,282,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Slc1a4
|
UTSW |
11 |
20,254,375 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2497:Slc1a4
|
UTSW |
11 |
20,282,620 (GRCm39) |
start gained |
probably benign |
|
|
R3498:Slc1a4
|
UTSW |
11 |
20,263,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Slc1a4
|
UTSW |
11 |
20,254,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Slc1a4
|
UTSW |
11 |
20,258,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Slc1a4
|
UTSW |
11 |
20,254,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Slc1a4
|
UTSW |
11 |
20,282,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5533:Slc1a4
|
UTSW |
11 |
20,254,417 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5548:Slc1a4
|
UTSW |
11 |
20,254,429 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6523:Slc1a4
|
UTSW |
11 |
20,282,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6863:Slc1a4
|
UTSW |
11 |
20,264,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Slc1a4
|
UTSW |
11 |
20,254,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7508:Slc1a4
|
UTSW |
11 |
20,256,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Slc1a4
|
UTSW |
11 |
20,258,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Slc1a4
|
UTSW |
11 |
20,282,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Slc1a4
|
UTSW |
11 |
20,258,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Slc1a4
|
UTSW |
11 |
20,282,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8398:Slc1a4
|
UTSW |
11 |
20,257,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Slc1a4
|
UTSW |
11 |
20,270,237 (GRCm39) |
splice site |
probably benign |
|
|
R9031:Slc1a4
|
UTSW |
11 |
20,282,532 (GRCm39) |
start gained |
probably benign |
|
|
R9132:Slc1a4
|
UTSW |
11 |
20,258,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9280:Slc1a4
|
UTSW |
11 |
20,282,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Slc1a4
|
UTSW |
11 |
20,282,025 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9548:Slc1a4
|
UTSW |
11 |
20,258,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Slc1a4
|
UTSW |
11 |
20,282,403 (GRCm39) |
missense |
probably benign |
|
|
X0025:Slc1a4
|
UTSW |
11 |
20,268,703 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGATGGTCCTGGAACGG -3'
(R):5'- CCGTCTATGATGAAGTGCATTG -3'
Sequencing Primer
(F):5'- TGTAGGTAGCACCATACCATAGCTAG -3'
(R):5'- CGTCTATGATGAAGTGCATTGAGGAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation