Incidental Mutation 'IGL01747:Slc38a10'
| ID |
153055 |
| 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 # |
IGL01747
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
119994786-120042172 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 120025600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045402]
[ENSMUST00000053692]
[ENSMUST00000076697]
[ENSMUST00000103018]
[ENSMUST00000179094]
|
| AlphaFold |
Q5I012 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045402
|
| SMART Domains |
Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
| 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 benign
Transcript: ENSMUST00000053692
|
| SMART Domains |
Protein: ENSMUSP00000057615
Gene: ENSMUSG00000061306
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
4 |
381 |
8.6e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076697
|
| SMART Domains |
Protein: ENSMUSP00000075989
Gene: ENSMUSG00000061306
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
4 |
389 |
4.7e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103018
|
| SMART Domains |
Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
| 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 |
noncoding transcript
Transcript: ENSMUST00000150315
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179094
|
| SMART Domains |
Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
| 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: ENSMUST00000152859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154444
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,704,338 (GRCm39) |
|
probably null |
Het |
| Abca14 |
A |
G |
7: 119,877,310 (GRCm39) |
N986S |
probably benign |
Het |
| Adamts17 |
G |
A |
7: 66,701,759 (GRCm39) |
G702D |
probably damaging |
Het |
| Aox3 |
G |
A |
1: 58,198,817 (GRCm39) |
V671M |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,387,254 (GRCm39) |
Y124* |
probably null |
Het |
| Astn2 |
A |
T |
4: 65,712,855 (GRCm39) |
M595K |
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,889,273 (GRCm39) |
|
probably benign |
Het |
| Dhrs2 |
A |
T |
14: 55,472,120 (GRCm39) |
I4L |
probably benign |
Het |
| Fbxo4 |
A |
T |
15: 3,995,237 (GRCm39) |
L369* |
probably null |
Het |
| Gpbp1 |
G |
A |
13: 111,589,584 (GRCm39) |
R129C |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,750,697 (GRCm39) |
I2956L |
probably damaging |
Het |
| Myo16 |
C |
T |
8: 10,654,877 (GRCm39) |
T1843I |
probably damaging |
Het |
| Or1j14 |
T |
C |
2: 36,417,844 (GRCm39) |
L140P |
probably damaging |
Het |
| Or8k3b |
T |
C |
2: 86,521,045 (GRCm39) |
I91M |
possibly damaging |
Het |
| Pcdhb2 |
T |
G |
18: 37,429,356 (GRCm39) |
V86G |
probably damaging |
Het |
| Pskh1 |
T |
C |
8: 106,639,836 (GRCm39) |
M172T |
probably damaging |
Het |
| Spry2 |
C |
T |
14: 106,130,488 (GRCm39) |
D233N |
probably damaging |
Het |
| Tmem163 |
T |
A |
1: 127,596,457 (GRCm39) |
R84W |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,972,656 (GRCm39) |
I306V |
probably benign |
Het |
| Virma |
T |
C |
4: 11,526,877 (GRCm39) |
L1092P |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,702 (GRCm39) |
Y400C |
probably damaging |
Het |
|
| Other mutations in Slc38a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Slc38a10
|
APN |
11 |
120,029,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation