Incidental Mutation 'IGL03396:Slc38a10'
| ID |
421257 |
| 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 # |
IGL03396
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
119994786-120042172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120019301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 360
(I360N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045402]
[ENSMUST00000053692]
[ENSMUST00000076697]
[ENSMUST00000103018]
[ENSMUST00000179094]
|
| AlphaFold |
Q5I012 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045402
AA Change: I360N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: I360N
| 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: I360N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057615
Gene: ENSMUSG00000061306
AA Change: I360N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
4 |
381 |
8.6e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076697
AA Change: I360N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075989
Gene: ENSMUSG00000061306
AA Change: I360N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
4 |
389 |
4.7e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103018
AA Change: I360N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: I360N
| 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: ENSMUST00000154444
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179094
AA Change: I360N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: I360N
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
G |
A |
11: 69,902,239 (GRCm39) |
R457* |
probably null |
Het |
| Arl5b |
C |
A |
2: 15,079,915 (GRCm39) |
T153K |
probably damaging |
Het |
| Arsb |
A |
T |
13: 94,075,825 (GRCm39) |
Y436F |
probably benign |
Het |
| Azgp1 |
C |
T |
5: 137,983,445 (GRCm39) |
P40L |
possibly damaging |
Het |
| B020004C17Rik |
A |
G |
14: 57,253,993 (GRCm39) |
T39A |
possibly damaging |
Het |
| Cacna2d3 |
G |
A |
14: 29,442,834 (GRCm39) |
Q67* |
probably null |
Het |
| Cdcp2 |
C |
A |
4: 106,964,369 (GRCm39) |
Y406* |
probably null |
Het |
| Cep89 |
T |
A |
7: 35,128,603 (GRCm39) |
D585E |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,943,801 (GRCm39) |
F1570S |
probably damaging |
Het |
| Cnfn |
A |
G |
7: 25,067,783 (GRCm39) |
|
probably benign |
Het |
| Fgd6 |
G |
A |
10: 93,880,318 (GRCm39) |
V391I |
probably benign |
Het |
| Fra10ac1 |
C |
T |
19: 38,189,994 (GRCm39) |
|
probably null |
Het |
| Gjd3 |
T |
C |
11: 102,691,353 (GRCm39) |
K217E |
probably benign |
Het |
| Il20rb |
T |
C |
9: 100,341,251 (GRCm39) |
E285G |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,103,888 (GRCm39) |
T1086A |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,609,906 (GRCm39) |
I79F |
probably damaging |
Het |
| Jmjd6 |
A |
T |
11: 116,732,077 (GRCm39) |
L208H |
probably damaging |
Het |
| Lilrb4b |
A |
G |
10: 51,357,253 (GRCm39) |
I30V |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,111,016 (GRCm39) |
N81S |
probably damaging |
Het |
| Mettl21e |
A |
T |
1: 44,245,759 (GRCm39) |
N162K |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,808,132 (GRCm39) |
S299P |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,964,404 (GRCm39) |
L3046P |
probably benign |
Het |
| Or1j14 |
C |
A |
2: 36,417,692 (GRCm39) |
S89R |
probably benign |
Het |
| Or5b98 |
T |
A |
19: 12,931,184 (GRCm39) |
V77E |
probably damaging |
Het |
| Or6c68 |
A |
G |
10: 129,157,916 (GRCm39) |
I141M |
probably benign |
Het |
| Pnpla8 |
G |
A |
12: 44,330,309 (GRCm39) |
R287H |
probably benign |
Het |
| Pot1a |
A |
C |
6: 25,745,913 (GRCm39) |
I596R |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,131 (GRCm39) |
D329G |
probably damaging |
Het |
| Ptprr |
T |
G |
10: 116,024,235 (GRCm39) |
V182G |
probably damaging |
Het |
| Rrp1b |
T |
A |
17: 32,276,237 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,599,794 (GRCm39) |
V837A |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,318,840 (GRCm39) |
Y494C |
probably damaging |
Het |
| Snrpb2 |
T |
C |
2: 142,913,377 (GRCm39) |
F194L |
possibly damaging |
Het |
| Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,143,882 (GRCm39) |
N238S |
probably benign |
Het |
| Usp20 |
T |
C |
2: 30,901,729 (GRCm39) |
V498A |
probably benign |
Het |
| Vmn2r23 |
T |
C |
6: 123,706,585 (GRCm39) |
S472P |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,290,107 (GRCm39) |
T548S |
possibly damaging |
Het |
| Zfp429 |
A |
T |
13: 67,544,159 (GRCm39) |
|
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation