Incidental Mutation 'IGL01420:Slc38a10'
ID |
80373 |
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 # |
IGL01420
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
119994786-120042172 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 119997286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 736
(E736V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045402]
[ENSMUST00000103018]
[ENSMUST00000179094]
|
AlphaFold |
Q5I012 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045402
AA Change: E728V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000048675 Gene: ENSMUSG00000061306 AA Change: E728V
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: ENSMUST00000103018
AA Change: E736V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099307 Gene: ENSMUSG00000061306 AA Change: E736V
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: ENSMUST00000124997
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129128
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129575
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129710
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146641
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179094
AA Change: E736V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000136719 Gene: ENSMUSG00000061306 AA Change: E736V
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: ENSMUST00000148503
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
G |
16: 30,920,637 (GRCm39) |
|
probably benign |
Het |
Actr6 |
A |
T |
10: 89,561,027 (GRCm39) |
|
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,850,916 (GRCm39) |
M541K |
possibly damaging |
Het |
Adgre4 |
T |
C |
17: 56,106,785 (GRCm39) |
|
probably benign |
Het |
Anxa6 |
T |
C |
11: 54,883,189 (GRCm39) |
Y481C |
probably damaging |
Het |
Apbb1ip |
A |
T |
2: 22,748,292 (GRCm39) |
I371F |
possibly damaging |
Het |
Arhgef10l |
T |
C |
4: 140,297,649 (GRCm39) |
D261G |
probably damaging |
Het |
Bche |
T |
C |
3: 73,609,342 (GRCm39) |
H28R |
probably benign |
Het |
C2cd3 |
T |
C |
7: 100,104,065 (GRCm39) |
V2026A |
probably benign |
Het |
Cacna1d |
C |
T |
14: 29,773,595 (GRCm39) |
V1697I |
probably benign |
Het |
Celsr2 |
T |
C |
3: 108,301,079 (GRCm39) |
H2738R |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,718,389 (GRCm39) |
|
probably null |
Het |
Cep152 |
A |
T |
2: 125,405,572 (GRCm39) |
D1653E |
possibly damaging |
Het |
Cfap57 |
T |
A |
4: 118,470,137 (GRCm39) |
I248F |
probably benign |
Het |
Clcnka |
C |
A |
4: 141,116,643 (GRCm39) |
R536L |
probably benign |
Het |
Dao |
T |
A |
5: 114,161,881 (GRCm39) |
|
probably benign |
Het |
Dnajc10 |
T |
C |
2: 80,175,367 (GRCm39) |
S585P |
possibly damaging |
Het |
Dysf |
C |
T |
6: 84,126,741 (GRCm39) |
Q1333* |
probably null |
Het |
Eps8l2 |
T |
A |
7: 140,937,576 (GRCm39) |
S397T |
probably benign |
Het |
Fap |
A |
G |
2: 62,334,846 (GRCm39) |
|
probably benign |
Het |
Fbf1 |
T |
C |
11: 116,036,822 (GRCm39) |
T971A |
probably benign |
Het |
Fbxl17 |
C |
T |
17: 63,692,047 (GRCm39) |
V22M |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,839,558 (GRCm39) |
M457K |
probably benign |
Het |
Fundc2 |
T |
C |
X: 74,434,471 (GRCm39) |
|
probably benign |
Het |
Heyl |
C |
A |
4: 123,133,967 (GRCm39) |
Q42K |
probably damaging |
Het |
Hyal4 |
A |
G |
6: 24,755,871 (GRCm39) |
K30E |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,227,071 (GRCm39) |
I2201V |
probably benign |
Het |
Il34 |
T |
C |
8: 111,469,345 (GRCm39) |
K157E |
probably damaging |
Het |
Kcnj13 |
T |
C |
1: 87,316,766 (GRCm39) |
T116A |
probably damaging |
Het |
Lpl |
T |
C |
8: 69,340,085 (GRCm39) |
|
probably benign |
Het |
Mcm6 |
A |
G |
1: 128,273,612 (GRCm39) |
L406P |
probably damaging |
Het |
Mst1 |
G |
A |
9: 107,960,027 (GRCm39) |
R328H |
probably damaging |
Het |
Nadk2 |
T |
C |
15: 9,103,072 (GRCm39) |
S308P |
probably damaging |
Het |
Nae1 |
G |
T |
8: 105,249,797 (GRCm39) |
Q225K |
probably benign |
Het |
Ncoa6 |
G |
A |
2: 155,249,507 (GRCm39) |
P1266S |
probably damaging |
Het |
Neb |
A |
G |
2: 52,047,389 (GRCm39) |
Y6485H |
probably damaging |
Het |
Nin |
G |
A |
12: 70,092,188 (GRCm39) |
A707V |
probably benign |
Het |
Nmur1 |
T |
C |
1: 86,315,113 (GRCm39) |
T218A |
probably benign |
Het |
Npr3 |
T |
C |
15: 11,858,718 (GRCm39) |
N135D |
probably damaging |
Het |
Nup107 |
A |
T |
10: 117,620,926 (GRCm39) |
L142Q |
probably damaging |
Het |
Pdgfc |
T |
A |
3: 81,048,750 (GRCm39) |
S53T |
probably benign |
Het |
Plxdc2 |
T |
A |
2: 16,654,950 (GRCm39) |
V232D |
probably damaging |
Het |
Pou2f2 |
T |
C |
7: 24,792,377 (GRCm39) |
N493D |
possibly damaging |
Het |
Rtel1 |
T |
C |
2: 180,996,194 (GRCm39) |
I750T |
probably benign |
Het |
Sbk1 |
A |
G |
7: 125,891,184 (GRCm39) |
|
probably null |
Het |
Sec24d |
A |
G |
3: 123,143,658 (GRCm39) |
N603S |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,341,659 (GRCm39) |
Y559C |
probably benign |
Het |
Sprr4 |
A |
T |
3: 92,407,691 (GRCm39) |
V37E |
unknown |
Het |
Sptbn2 |
A |
G |
19: 4,784,153 (GRCm39) |
T632A |
probably benign |
Het |
Trim31 |
A |
G |
17: 37,209,303 (GRCm39) |
M20V |
probably benign |
Het |
Trim65 |
C |
A |
11: 116,017,335 (GRCm39) |
V376L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,542,420 (GRCm39) |
D25195G |
probably damaging |
Het |
Tysnd1 |
A |
G |
10: 61,537,830 (GRCm39) |
T503A |
possibly damaging |
Het |
Vtn |
A |
T |
11: 78,390,200 (GRCm39) |
I9L |
probably benign |
Het |
Zfp398 |
A |
G |
6: 47,842,868 (GRCm39) |
M175V |
probably benign |
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 |
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 |
2013-11-05 |