Incidental Mutation 'IGL00228:Slc38a10'
ID |
2198 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc38a10
|
Ensembl Gene |
ENSMUSG00000061306 |
Gene Name |
solute carrier family 38, member 10 |
Synonyms |
1810073N04Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00228
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
119994786-120042172 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 120029814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 167
(V167M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045402]
[ENSMUST00000053692]
[ENSMUST00000076697]
[ENSMUST00000103018]
[ENSMUST00000179094]
|
AlphaFold |
Q5I012 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045402
AA Change: V167M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048675 Gene: ENSMUSG00000061306 AA Change: V167M
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
398 |
1.5e-54 |
PFAM |
low complexity region
|
546 |
563 |
N/A |
INTRINSIC |
low complexity region
|
654 |
667 |
N/A |
INTRINSIC |
coiled coil region
|
699 |
735 |
N/A |
INTRINSIC |
low complexity region
|
827 |
837 |
N/A |
INTRINSIC |
low complexity region
|
1011 |
1019 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053692
AA Change: V167M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057615 Gene: ENSMUSG00000061306 AA Change: V167M
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
381 |
8.6e-57 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076697
AA Change: V167M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075989 Gene: ENSMUSG00000061306 AA Change: V167M
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
389 |
4.7e-57 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103018
AA Change: V167M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099307 Gene: ENSMUSG00000061306 AA Change: V167M
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
398 |
8.5e-55 |
PFAM |
low complexity region
|
546 |
563 |
N/A |
INTRINSIC |
low complexity region
|
654 |
667 |
N/A |
INTRINSIC |
coiled coil region
|
707 |
743 |
N/A |
INTRINSIC |
low complexity region
|
835 |
845 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1027 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132239
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135605
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179094
AA Change: V167M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000136719 Gene: ENSMUSG00000061306 AA Change: V167M
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
398 |
1e-54 |
PFAM |
low complexity region
|
546 |
563 |
N/A |
INTRINSIC |
low complexity region
|
654 |
667 |
N/A |
INTRINSIC |
coiled coil region
|
707 |
743 |
N/A |
INTRINSIC |
low complexity region
|
835 |
845 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1027 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154444
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152859
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice exhibit a fragile skeleton, reduced adiposity, lean body mass, body weight/length, long bone length and bone mineral density, increased creatinine levels, reduced amylase and serum albumin levels, increased energy efficiency and oxygen consumption, and altered liver physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
G |
A |
13: 104,566,298 (GRCm39) |
G731D |
possibly damaging |
Het |
Adgre4 |
C |
T |
17: 56,109,135 (GRCm39) |
L381F |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,960,804 (GRCm39) |
T1538A |
probably benign |
Het |
C1qtnf6 |
T |
C |
15: 78,409,094 (GRCm39) |
Y251C |
probably damaging |
Het |
Cgn |
T |
C |
3: 94,672,855 (GRCm39) |
N941S |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,638,152 (GRCm39) |
I37V |
probably benign |
Het |
Crtc1 |
T |
C |
8: 70,892,172 (GRCm39) |
K13E |
probably benign |
Het |
Cubn |
A |
G |
2: 13,461,508 (GRCm39) |
L673P |
probably damaging |
Het |
Cyp4f18 |
C |
T |
8: 72,743,771 (GRCm39) |
V395I |
probably damaging |
Het |
Def8 |
A |
G |
8: 124,186,389 (GRCm39) |
D400G |
possibly damaging |
Het |
Dvl1 |
A |
G |
4: 155,938,155 (GRCm39) |
D101G |
possibly damaging |
Het |
Fbxw20 |
T |
A |
9: 109,063,770 (GRCm39) |
M1L |
probably damaging |
Het |
Gad2 |
C |
T |
2: 22,575,398 (GRCm39) |
H501Y |
probably benign |
Het |
Herc3 |
C |
T |
6: 58,851,248 (GRCm39) |
P499L |
probably damaging |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kyat3 |
G |
A |
3: 142,432,018 (GRCm39) |
V249I |
probably damaging |
Het |
Med28 |
A |
G |
5: 45,680,812 (GRCm39) |
E92G |
probably damaging |
Het |
Mtcl3 |
T |
A |
10: 29,072,469 (GRCm39) |
L587* |
probably null |
Het |
Nup155 |
T |
C |
15: 8,150,939 (GRCm39) |
|
probably benign |
Het |
Nxf1 |
T |
C |
19: 8,740,106 (GRCm39) |
I91T |
possibly damaging |
Het |
Or8g50 |
T |
C |
9: 39,648,795 (GRCm39) |
I228T |
probably damaging |
Het |
Orc5 |
T |
A |
5: 22,728,537 (GRCm39) |
T305S |
probably damaging |
Het |
Psme4 |
T |
C |
11: 30,765,710 (GRCm39) |
|
probably null |
Het |
Rtca |
A |
G |
3: 116,298,110 (GRCm39) |
C100R |
probably damaging |
Het |
Septin14 |
G |
T |
5: 129,760,715 (GRCm39) |
H377N |
probably benign |
Het |
Shcbp1l |
A |
T |
1: 153,311,553 (GRCm39) |
N258I |
possibly damaging |
Het |
Shisa4 |
A |
C |
1: 135,301,023 (GRCm39) |
S82R |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Spata18 |
G |
A |
5: 73,815,097 (GRCm39) |
E69K |
possibly damaging |
Het |
Srsf2 |
A |
C |
11: 116,743,096 (GRCm39) |
|
probably benign |
Het |
Taf1b |
T |
A |
12: 24,597,066 (GRCm39) |
V335E |
possibly damaging |
Het |
Tenm4 |
G |
A |
7: 96,517,216 (GRCm39) |
V1399I |
probably benign |
Het |
Topbp1 |
C |
T |
9: 103,222,142 (GRCm39) |
R1338C |
probably benign |
Het |
Ugt1a5 |
A |
G |
1: 88,094,162 (GRCm39) |
E130G |
probably benign |
Het |
Wdfy2 |
T |
A |
14: 63,181,526 (GRCm39) |
S219T |
probably damaging |
Het |
Zbtb38 |
C |
A |
9: 96,569,547 (GRCm39) |
R512S |
probably damaging |
Het |
Zfp574 |
T |
C |
7: 24,781,015 (GRCm39) |
V679A |
probably benign |
Het |
|
Other mutations in Slc38a10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Slc38a10
|
APN |
11 |
119,997,428 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01420:Slc38a10
|
APN |
11 |
119,997,286 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01704:Slc38a10
|
APN |
11 |
120,041,913 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01747:Slc38a10
|
APN |
11 |
120,025,600 (GRCm39) |
splice site |
probably benign |
|
IGL02295:Slc38a10
|
APN |
11 |
120,007,684 (GRCm39) |
splice site |
probably benign |
|
IGL02300:Slc38a10
|
APN |
11 |
120,001,116 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02429:Slc38a10
|
APN |
11 |
120,025,714 (GRCm39) |
splice site |
probably benign |
|
IGL03155:Slc38a10
|
APN |
11 |
119,995,945 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03396:Slc38a10
|
APN |
11 |
120,019,301 (GRCm39) |
missense |
probably damaging |
1.00 |
Cascade
|
UTSW |
11 |
120,038,645 (GRCm39) |
missense |
probably damaging |
1.00 |
cherries
|
UTSW |
11 |
120,041,903 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
Ore
|
UTSW |
11 |
120,025,679 (GRCm39) |
missense |
probably damaging |
1.00 |
rainier
|
UTSW |
11 |
120,020,138 (GRCm39) |
nonsense |
probably null |
|
slag
|
UTSW |
11 |
120,023,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R0048:Slc38a10
|
UTSW |
11 |
120,001,138 (GRCm39) |
missense |
probably benign |
0.11 |
R0068:Slc38a10
|
UTSW |
11 |
120,025,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Slc38a10
|
UTSW |
11 |
120,025,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R0069:Slc38a10
|
UTSW |
11 |
119,997,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R0101:Slc38a10
|
UTSW |
11 |
120,041,903 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R0743:Slc38a10
|
UTSW |
11 |
120,031,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R1159:Slc38a10
|
UTSW |
11 |
119,996,301 (GRCm39) |
missense |
probably benign |
|
R2101:Slc38a10
|
UTSW |
11 |
120,023,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R2367:Slc38a10
|
UTSW |
11 |
120,001,087 (GRCm39) |
missense |
probably benign |
0.12 |
R4280:Slc38a10
|
UTSW |
11 |
120,028,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R4282:Slc38a10
|
UTSW |
11 |
120,020,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R5206:Slc38a10
|
UTSW |
11 |
119,995,888 (GRCm39) |
missense |
probably damaging |
0.99 |
R5658:Slc38a10
|
UTSW |
11 |
119,996,218 (GRCm39) |
missense |
probably benign |
0.11 |
R6114:Slc38a10
|
UTSW |
11 |
120,020,138 (GRCm39) |
nonsense |
probably null |
|
R6118:Slc38a10
|
UTSW |
11 |
120,023,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R6306:Slc38a10
|
UTSW |
11 |
120,038,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R6395:Slc38a10
|
UTSW |
11 |
120,015,208 (GRCm39) |
missense |
probably benign |
0.01 |
R6428:Slc38a10
|
UTSW |
11 |
119,996,298 (GRCm39) |
missense |
probably benign |
0.09 |
R7764:Slc38a10
|
UTSW |
11 |
119,995,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R7835:Slc38a10
|
UTSW |
11 |
120,007,822 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8790:Slc38a10
|
UTSW |
11 |
120,023,519 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9151:Slc38a10
|
UTSW |
11 |
120,007,762 (GRCm39) |
missense |
probably benign |
0.00 |
R9227:Slc38a10
|
UTSW |
11 |
119,996,781 (GRCm39) |
missense |
probably benign |
0.20 |
R9230:Slc38a10
|
UTSW |
11 |
119,996,781 (GRCm39) |
missense |
probably benign |
0.20 |
X0062:Slc38a10
|
UTSW |
11 |
120,007,726 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Posted On |
2011-12-09 |