Incidental Mutation 'R0918:Slc38a6'
| ID |
81553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a6
|
| Ensembl Gene |
ENSMUSG00000044712 |
| Gene Name |
solute carrier family 38, member 6 |
| Synonyms |
EG625098 |
| MMRRC Submission |
039068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R0918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
73333553-73400823 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 73391559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140523]
[ENSMUST00000140523]
|
| AlphaFold |
G3UVW3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134247
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140523
|
| SMART Domains |
Protein: ENSMUSP00000120810
Gene: ENSMUSG00000044712
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
44 |
452 |
2.5e-77 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140523
|
| SMART Domains |
Protein: ENSMUSP00000120810
Gene: ENSMUSG00000044712
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
44 |
452 |
2.5e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150996
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.2%
- 20x: 90.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
G |
3: 59,946,953 (GRCm39) |
I217R |
probably damaging |
Het |
| Acp1 |
G |
T |
12: 30,955,126 (GRCm39) |
S20* |
probably null |
Het |
| Adcy3 |
A |
G |
12: 4,248,360 (GRCm39) |
D474G |
probably benign |
Het |
| Apob |
T |
C |
12: 8,033,941 (GRCm39) |
I217T |
probably benign |
Het |
| Cdh12 |
G |
A |
15: 21,492,685 (GRCm39) |
V235I |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,062 (GRCm39) |
T197S |
probably damaging |
Het |
| Cerkl |
A |
G |
2: 79,163,973 (GRCm39) |
I449T |
probably benign |
Het |
| Cpz |
A |
G |
5: 35,674,998 (GRCm39) |
Y84H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,842,619 (GRCm39) |
|
probably null |
Het |
| Fbxo11 |
A |
T |
17: 88,305,031 (GRCm39) |
N613K |
probably damaging |
Het |
| Fes |
G |
T |
7: 80,030,953 (GRCm39) |
T536K |
probably damaging |
Het |
| Gm13941 |
G |
C |
2: 110,930,945 (GRCm39) |
T76R |
unknown |
Het |
| Lrp1 |
T |
C |
10: 127,429,834 (GRCm39) |
E412G |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,412,287 (GRCm39) |
I285V |
probably damaging |
Het |
| Map3k13 |
G |
A |
16: 21,744,990 (GRCm39) |
D850N |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,103,408 (GRCm39) |
V34M |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,171,928 (GRCm39) |
W43R |
probably damaging |
Het |
| Ncan |
T |
G |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,168,239 (GRCm39) |
T984M |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,062,403 (GRCm39) |
T278A |
probably benign |
Het |
| Or5a3 |
A |
G |
19: 12,400,599 (GRCm39) |
K309E |
probably benign |
Het |
| Or5ak4 |
A |
G |
2: 85,162,276 (GRCm39) |
|
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,418 (GRCm39) |
I209T |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,653,067 (GRCm39) |
F255L |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,103,124 (GRCm39) |
D1697G |
possibly damaging |
Het |
| Pla2g12b |
A |
G |
10: 59,257,306 (GRCm39) |
D163G |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,756,267 (GRCm39) |
T359M |
possibly damaging |
Het |
| Sass6 |
G |
A |
3: 116,397,172 (GRCm39) |
|
probably null |
Het |
| Scn1a |
C |
T |
2: 66,153,651 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
A |
G |
15: 96,507,743 (GRCm39) |
L103P |
probably damaging |
Het |
| Smarca4 |
C |
T |
9: 21,547,511 (GRCm39) |
P265S |
probably benign |
Het |
| Snrpa1 |
A |
G |
7: 65,720,363 (GRCm39) |
T189A |
probably benign |
Het |
| Snx11 |
G |
A |
11: 96,660,104 (GRCm39) |
P195L |
possibly damaging |
Het |
| Spen |
T |
G |
4: 141,212,875 (GRCm39) |
I584L |
unknown |
Het |
| Sult2a5 |
T |
A |
7: 13,359,334 (GRCm39) |
H103Q |
probably benign |
Het |
| Syce1 |
T |
C |
7: 140,360,436 (GRCm39) |
K50E |
probably damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,835,477 (GRCm39) |
S1018P |
probably damaging |
Het |
|
| Other mutations in Slc38a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Slc38a6
|
APN |
12 |
73,398,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01083:Slc38a6
|
APN |
12 |
73,335,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01302:Slc38a6
|
APN |
12 |
73,335,299 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02106:Slc38a6
|
APN |
12 |
73,397,320 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02429:Slc38a6
|
APN |
12 |
73,397,342 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02815:Slc38a6
|
APN |
12 |
73,338,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03001:Slc38a6
|
APN |
12 |
73,383,827 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03167:Slc38a6
|
APN |
12 |
73,397,311 (GRCm39) |
nonsense |
probably null |
|
|
R0394:Slc38a6
|
UTSW |
12 |
73,399,304 (GRCm39) |
missense |
probably benign |
|
|
R1377:Slc38a6
|
UTSW |
12 |
73,397,345 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1533:Slc38a6
|
UTSW |
12 |
73,391,626 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4171:Slc38a6
|
UTSW |
12 |
73,397,326 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4579:Slc38a6
|
UTSW |
12 |
73,335,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4864:Slc38a6
|
UTSW |
12 |
73,390,424 (GRCm39) |
splice site |
probably null |
|
|
R5162:Slc38a6
|
UTSW |
12 |
73,376,759 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5627:Slc38a6
|
UTSW |
12 |
73,390,457 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6189:Slc38a6
|
UTSW |
12 |
73,356,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Slc38a6
|
UTSW |
12 |
73,383,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6407:Slc38a6
|
UTSW |
12 |
73,356,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Slc38a6
|
UTSW |
12 |
73,333,786 (GRCm39) |
missense |
probably benign |
|
|
R7462:Slc38a6
|
UTSW |
12 |
73,397,351 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8031:Slc38a6
|
UTSW |
12 |
73,397,377 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8074:Slc38a6
|
UTSW |
12 |
73,391,658 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9091:Slc38a6
|
UTSW |
12 |
73,398,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9190:Slc38a6
|
UTSW |
12 |
73,388,526 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9270:Slc38a6
|
UTSW |
12 |
73,398,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9406:Slc38a6
|
UTSW |
12 |
73,376,767 (GRCm39) |
nonsense |
probably null |
|
|
R9587:Slc38a6
|
UTSW |
12 |
73,388,513 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGTTGCCAGTGACACCATCTC -3'
(R):5'- GATTTGTCAGATTCGCCACAGTGC -3'
Sequencing Primer
(F):5'- AGTGACACCATCTCTGTTTCTGAG -3'
(R):5'- CCTGGATAGATGGCCTTACAAGC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation