Incidental Mutation 'R1159:Slc38a10'
| ID |
101987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a10
|
| Ensembl Gene |
ENSMUSG00000061306 |
| Gene Name |
solute carrier family 38, member 10 |
| Synonyms |
1810073N04Rik |
| MMRRC Submission |
039232-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119994786-120042172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119996301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 932
(V932A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045402]
[ENSMUST00000103018]
[ENSMUST00000106223]
[ENSMUST00000179094]
|
| AlphaFold |
Q5I012 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045402
AA Change: V924A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: V924A
| 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: ENSMUST00000103018
AA Change: V932A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: V932A
| 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 |
probably benign
Transcript: ENSMUST00000106223
|
| 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 |
probably benign
Transcript: ENSMUST00000179094
AA Change: V932A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: V932A
| 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: ENSMUST00000146641
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.8%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| Aass |
G |
A |
6: 23,115,137 (GRCm39) |
H164Y |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,393,138 (GRCm39) |
I288T |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,010,865 (GRCm39) |
R541C |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,229,222 (GRCm39) |
|
probably benign |
Het |
| Anp32b |
T |
C |
4: 46,471,478 (GRCm39) |
|
probably benign |
Het |
| Avil |
T |
C |
10: 126,847,659 (GRCm39) |
V528A |
possibly damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cdk10 |
T |
C |
8: 123,955,062 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
A |
T |
1: 74,968,499 (GRCm39) |
F111Y |
probably damaging |
Het |
| Cryge |
A |
G |
1: 65,089,967 (GRCm39) |
F72L |
probably benign |
Het |
| Ercc3 |
C |
T |
18: 32,397,611 (GRCm39) |
T614I |
possibly damaging |
Het |
| Fgd5 |
T |
C |
6: 91,965,483 (GRCm39) |
I572T |
probably benign |
Het |
| Fubp1 |
A |
G |
3: 151,921,229 (GRCm39) |
D88G |
possibly damaging |
Het |
| Gcnt1 |
C |
A |
19: 17,307,168 (GRCm39) |
V186F |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,138,162 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
A |
G |
6: 100,781,602 (GRCm39) |
M426V |
possibly damaging |
Het |
| Hps5 |
A |
T |
7: 46,421,978 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
G |
A |
16: 21,880,603 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,358,607 (GRCm39) |
S215P |
probably damaging |
Het |
| Mfsd13b |
T |
C |
7: 120,613,766 (GRCm39) |
M421T |
probably damaging |
Het |
| Mtif2 |
C |
A |
11: 29,490,729 (GRCm39) |
R478S |
possibly damaging |
Het |
| Nadk2 |
G |
A |
15: 9,106,925 (GRCm39) |
R351H |
possibly damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,274,169 (GRCm39) |
D167G |
possibly damaging |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,580,568 (GRCm39) |
S701T |
unknown |
Het |
| Pramel17 |
T |
C |
4: 101,695,224 (GRCm39) |
E29G |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,000,057 (GRCm39) |
S830P |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,727,921 (GRCm39) |
L2690* |
probably null |
Het |
| Rgs22 |
A |
T |
15: 36,040,839 (GRCm39) |
S883T |
probably damaging |
Het |
| Rxfp4 |
A |
G |
3: 88,559,894 (GRCm39) |
W186R |
probably damaging |
Het |
| Sacm1l |
T |
C |
9: 123,395,476 (GRCm39) |
S200P |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,855,212 (GRCm39) |
D295E |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,430,329 (GRCm38) |
S1568P |
possibly damaging |
Het |
| Tox |
T |
G |
4: 6,697,600 (GRCm39) |
N401T |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,933,412 (GRCm39) |
|
probably null |
Het |
| Unc79 |
T |
G |
12: 103,013,311 (GRCm39) |
|
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,613 (GRCm39) |
I599N |
probably benign |
Het |
| Zfa-ps |
T |
A |
10: 52,419,654 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation