Incidental Mutation 'R0743:Slc38a10'
| ID |
70797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a10
|
| Ensembl Gene |
ENSMUSG00000061306 |
| Gene Name |
solute carrier family 38, member 10 |
| Synonyms |
1810073N04Rik |
| MMRRC Submission |
038924-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0743 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119994786-120042172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120031469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 103
(V103M)
|
| 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: V103M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: V103M
| 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: V103M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057615
Gene: ENSMUSG00000061306
AA Change: V103M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
4 |
381 |
8.6e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076697
AA Change: V103M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075989
Gene: ENSMUSG00000061306
AA Change: V103M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
4 |
389 |
4.7e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103018
AA Change: V103M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: V103M
| 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 |
noncoding transcript
Transcript: ENSMUST00000152859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154444
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179094
AA Change: V103M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: V103M
| 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: 99.2%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,790,700 (GRCm39) |
I844N |
possibly damaging |
Het |
| Bend7 |
A |
T |
2: 4,749,055 (GRCm39) |
K57N |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,155,996 (GRCm39) |
F76L |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,007,469 (GRCm39) |
T149S |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,731,967 (GRCm39) |
I236T |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,156,552 (GRCm39) |
L66P |
probably damaging |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,854 (GRCm39) |
V170A |
possibly damaging |
Het |
| Dnm2 |
T |
A |
9: 21,411,561 (GRCm39) |
Y597N |
probably damaging |
Het |
| Epsti1 |
A |
T |
14: 78,168,715 (GRCm39) |
R117S |
probably damaging |
Het |
| Gabarapl2 |
A |
T |
8: 112,669,137 (GRCm39) |
I32F |
probably damaging |
Het |
| Glrb |
T |
A |
3: 80,786,987 (GRCm39) |
I59F |
probably damaging |
Het |
| Gosr1 |
A |
G |
11: 76,620,972 (GRCm39) |
I239T |
probably benign |
Het |
| Kif5b |
G |
T |
18: 6,209,192 (GRCm39) |
R857S |
probably damaging |
Het |
| Kmt5a |
C |
A |
5: 124,585,282 (GRCm39) |
N44K |
probably damaging |
Het |
| Ksr1 |
A |
T |
11: 78,912,329 (GRCm39) |
H675Q |
possibly damaging |
Het |
| Mep1b |
A |
G |
18: 21,213,515 (GRCm39) |
D68G |
possibly damaging |
Het |
| Nebl |
A |
C |
2: 17,415,929 (GRCm39) |
S327A |
probably benign |
Het |
| Nfat5 |
G |
A |
8: 108,094,698 (GRCm39) |
E962K |
probably damaging |
Het |
| Nfatc4 |
A |
C |
14: 56,064,101 (GRCm39) |
D126A |
probably damaging |
Het |
| Nmt2 |
A |
T |
2: 3,315,822 (GRCm39) |
R271* |
probably null |
Het |
| Nol7 |
G |
A |
13: 43,554,091 (GRCm39) |
V133I |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,096,884 (GRCm39) |
|
probably benign |
Het |
| Nphp3 |
GCATCATCATCATCATC |
GCATCATCATCATC |
9: 103,899,967 (GRCm39) |
|
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,265,715 (GRCm39) |
I47F |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,156,069 (GRCm39) |
W28* |
probably null |
Het |
| Or6c66 |
T |
A |
10: 129,461,712 (GRCm39) |
T73S |
probably benign |
Het |
| Or8h10 |
G |
A |
2: 86,808,843 (GRCm39) |
T99I |
probably benign |
Het |
| Ovgp1 |
T |
A |
3: 105,882,248 (GRCm39) |
L37H |
probably damaging |
Het |
| Padi3 |
G |
T |
4: 140,513,740 (GRCm39) |
A646D |
probably benign |
Het |
| Pamr1 |
A |
G |
2: 102,440,252 (GRCm39) |
E142G |
probably damaging |
Het |
| Papolg |
A |
T |
11: 23,820,818 (GRCm39) |
|
probably null |
Het |
| Pate8 |
T |
C |
9: 36,492,597 (GRCm39) |
S103G |
probably benign |
Het |
| Pfkl |
C |
T |
10: 77,831,077 (GRCm39) |
|
probably null |
Het |
| Plrg1 |
T |
C |
3: 82,967,224 (GRCm39) |
S132P |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,425,134 (GRCm39) |
I103N |
probably damaging |
Het |
| Prr14l |
C |
A |
5: 32,988,538 (GRCm39) |
C319F |
possibly damaging |
Het |
| Prtn3 |
T |
A |
10: 79,715,511 (GRCm39) |
M1K |
probably null |
Het |
| Ptpn22 |
T |
C |
3: 103,809,487 (GRCm39) |
F700S |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,044,366 (GRCm39) |
Q1273* |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,569,415 (GRCm39) |
D4963G |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,309,734 (GRCm39) |
L2091F |
possibly damaging |
Het |
| Senp6 |
C |
T |
9: 80,000,871 (GRCm39) |
R27C |
probably damaging |
Het |
| Shcbp1 |
T |
A |
8: 4,814,906 (GRCm39) |
M191L |
probably benign |
Het |
| Sirt4 |
T |
C |
5: 115,621,014 (GRCm39) |
K53E |
probably benign |
Het |
| Slc10a2 |
A |
G |
8: 5,139,132 (GRCm39) |
S271P |
probably damaging |
Het |
| Slc35b2 |
T |
A |
17: 45,877,751 (GRCm39) |
F293I |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,723,759 (GRCm39) |
I1479F |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,355 (GRCm39) |
V987A |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,035,768 (GRCm39) |
I262V |
probably damaging |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Tmem39a |
A |
T |
16: 38,405,764 (GRCm39) |
I200F |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,579,613 (GRCm39) |
T23760M |
probably damaging |
Het |
| Uqcrc1 |
C |
T |
9: 108,773,773 (GRCm39) |
Q22* |
probably null |
Het |
| Wdtc1 |
A |
G |
4: 133,027,972 (GRCm39) |
W377R |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,764,764 (GRCm39) |
S223P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGCAAAGTTCTGAAATCCAAGCC -3'
(R):5'- CATTTACCCCAAGAGCAGTGGAGG -3'
Sequencing Primer
(F):5'- TCTGAAATCCAAGCCAGGGAAC -3'
(R):5'- ATGGCAGTTCCATGTCAGC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation