Incidental Mutation 'R7835:Slc38a10'
| ID |
605934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a10
|
| Ensembl Gene |
ENSMUSG00000061306 |
| Gene Name |
solute carrier family 38, member 10 |
| Synonyms |
1810073N04Rik |
| MMRRC Submission |
045889-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119994786-120042172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120007822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 386
(I386T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045402]
[ENSMUST00000076697]
[ENSMUST00000103018]
[ENSMUST00000179094]
|
| AlphaFold |
Q5I012 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045402
AA Change: I386T
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: I386T
| 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: ENSMUST00000076697
|
| SMART Domains |
Protein: ENSMUSP00000075989
Gene: ENSMUSG00000061306
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
4 |
389 |
4.7e-57 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103018
AA Change: I386T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: I386T
| 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 damaging
Transcript: ENSMUST00000179094
AA Change: I386T
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: I386T
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (48/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,749,623 (GRCm39) |
S1465T |
probably benign |
Het |
| Accsl |
T |
A |
2: 93,696,329 (GRCm39) |
K90* |
probably null |
Het |
| Adamts3 |
A |
T |
5: 89,848,299 (GRCm39) |
D674E |
possibly damaging |
Het |
| Adap2 |
T |
A |
11: 80,051,057 (GRCm39) |
V129D |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,823,557 (GRCm39) |
D742G |
|
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cachd1 |
G |
T |
4: 100,831,350 (GRCm39) |
|
probably null |
Het |
| Ccne1 |
G |
T |
7: 37,802,270 (GRCm39) |
Q133K |
probably benign |
Het |
| Cers3 |
C |
T |
7: 66,423,387 (GRCm39) |
H111Y |
possibly damaging |
Het |
| Chst5 |
A |
T |
8: 112,617,234 (GRCm39) |
L129M |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,530 (GRCm39) |
S164P |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,854,298 (GRCm39) |
A1966T |
probably damaging |
Het |
| Fcgbp |
T |
G |
7: 27,816,632 (GRCm39) |
S2365A |
possibly damaging |
Het |
| Ihh |
A |
G |
1: 74,985,525 (GRCm39) |
V320A |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 900,558 (GRCm39) |
V201A |
possibly damaging |
Het |
| Kif13b |
T |
A |
14: 65,004,901 (GRCm39) |
H1117Q |
probably benign |
Het |
| Lcn8 |
C |
A |
2: 25,545,308 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
T |
C |
2: 91,325,387 (GRCm39) |
V1404A |
possibly damaging |
Het |
| Lrrc61 |
A |
T |
6: 48,545,506 (GRCm39) |
T110S |
probably benign |
Het |
| Mrpl19 |
G |
A |
6: 81,939,107 (GRCm39) |
R232C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Mzt1 |
T |
C |
14: 99,283,439 (GRCm39) |
T21A |
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,452,512 (GRCm39) |
A183E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,040,589 (GRCm39) |
D6624G |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,460,897 (GRCm39) |
D183G |
probably benign |
Het |
| Olfm5 |
A |
T |
7: 103,803,652 (GRCm39) |
Y195* |
probably null |
Het |
| Or7g16 |
T |
A |
9: 18,727,105 (GRCm39) |
M162L |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,216,016 (GRCm39) |
F1216I |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,892,126 (GRCm39) |
V135A |
probably benign |
Het |
| Ppcdc |
A |
G |
9: 57,327,559 (GRCm39) |
S83P |
probably benign |
Het |
| Prss21 |
A |
T |
17: 24,088,425 (GRCm39) |
Q130L |
possibly damaging |
Het |
| Rdx |
T |
A |
9: 51,977,088 (GRCm39) |
N112K |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,082,057 (GRCm39) |
|
probably null |
Het |
| Rps23rg1 |
A |
G |
8: 3,630,452 (GRCm39) |
|
probably benign |
Het |
| Rps26 |
C |
T |
10: 128,461,995 (GRCm39) |
V40I |
probably benign |
Het |
| Runx2 |
A |
T |
17: 44,919,123 (GRCm39) |
M405K |
probably damaging |
Het |
| Serinc2 |
A |
C |
4: 130,169,280 (GRCm39) |
C4G |
unknown |
Het |
| Sh3rf2 |
C |
A |
18: 42,244,235 (GRCm39) |
R266S |
probably benign |
Het |
| Stab2 |
G |
A |
10: 86,708,483 (GRCm39) |
P1694L |
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tasor |
G |
T |
14: 27,198,600 (GRCm39) |
G1311C |
probably damaging |
Het |
| Tmem102 |
A |
G |
11: 69,695,171 (GRCm39) |
V267A |
probably damaging |
Het |
| Trim65 |
A |
G |
11: 116,021,755 (GRCm39) |
L26P |
probably damaging |
Het |
| Vmn1r160 |
T |
A |
7: 22,571,379 (GRCm39) |
M244K |
possibly damaging |
Het |
| Vmn1r57 |
A |
T |
7: 5,224,138 (GRCm39) |
H221L |
probably benign |
Het |
| Wdr89 |
C |
A |
12: 75,679,673 (GRCm39) |
V194F |
probably damaging |
Het |
| Wee1 |
C |
A |
7: 109,730,085 (GRCm39) |
Y396* |
probably null |
Het |
| Zfp451 |
A |
T |
1: 33,812,060 (GRCm39) |
V885D |
probably damaging |
Het |
| Zfp981 |
A |
T |
4: 146,622,333 (GRCm39) |
Q419H |
probably benign |
Het |
| Znfx1 |
A |
G |
2: 166,881,747 (GRCm39) |
Y1081H |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- ACCAGAGTTCAGGGATTTGGG -3'
(R):5'- CCACAGTGGTTAAGAAACTTGACC -3'
Sequencing Primer
(F):5'- GTCGGGGCCTGTGTATGTACC -3'
(R):5'- GAAACTTGACCTTAGCCTGGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation