Incidental Mutation 'R0068:Slc38a10'
| ID |
201443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a10
|
| Ensembl Gene |
ENSMUSG00000061306 |
| Gene Name |
solute carrier family 38, member 10 |
| Synonyms |
1810073N04Rik |
| MMRRC Submission |
038359-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0068 (G1)
|
| Quality Score |
45 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119994786-120042172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120025679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 219
(D219G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045402]
[ENSMUST00000053692]
[ENSMUST00000076697]
[ENSMUST00000103018]
[ENSMUST00000179094]
|
| AlphaFold |
Q5I012 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045402
AA Change: D219G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: D219G
| 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: D219G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057615
Gene: ENSMUSG00000061306
AA Change: D219G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
4 |
381 |
8.6e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076697
AA Change: D219G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075989
Gene: ENSMUSG00000061306
AA Change: D219G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
4 |
389 |
4.7e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103018
AA Change: D219G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: D219G
| 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 |
probably damaging
Transcript: ENSMUST00000179094
AA Change: D219G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: D219G
| 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: ENSMUST00000154444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152859
|
| Meta Mutation Damage Score |
0.2938 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 92.6%
|
| Validation Efficiency |
99% (72/73) |
| 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 |
|---|
| Abca6 |
T |
C |
11: 110,073,708 (GRCm39) |
T1448A |
probably damaging |
Het |
| Aldoart2 |
G |
T |
12: 55,612,233 (GRCm39) |
E53* |
probably null |
Het |
| Ankra2 |
C |
T |
13: 98,409,891 (GRCm39) |
Q137* |
probably null |
Het |
| Arpc1a |
C |
T |
5: 145,028,054 (GRCm39) |
T21I |
possibly damaging |
Het |
| Arvcf |
T |
C |
16: 18,214,819 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,914,624 (GRCm39) |
S1751R |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,006,370 (GRCm39) |
T1675A |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,989,336 (GRCm39) |
G2139C |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,717,629 (GRCm39) |
E530G |
probably benign |
Het |
| Cct3 |
A |
G |
3: 88,225,772 (GRCm39) |
D365G |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,134,282 (GRCm39) |
S688R |
probably damaging |
Het |
| Crispld1 |
A |
G |
1: 17,823,212 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ctbp2 |
A |
C |
7: 132,591,788 (GRCm39) |
V906G |
possibly damaging |
Het |
| Cwf19l1 |
A |
T |
19: 44,119,938 (GRCm39) |
Y68N |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,404,875 (GRCm39) |
M305L |
probably benign |
Het |
| Dnm1l |
C |
A |
16: 16,141,883 (GRCm39) |
G288C |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,611,648 (GRCm39) |
S497P |
probably benign |
Het |
| Fignl2 |
A |
T |
15: 100,952,129 (GRCm39) |
I51N |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,915,290 (GRCm38) |
N1474D |
possibly damaging |
Het |
| Ghrhr |
C |
T |
6: 55,357,849 (GRCm39) |
|
probably benign |
Het |
| Hltf |
G |
A |
3: 20,113,254 (GRCm39) |
R9H |
probably damaging |
Het |
| Hps5 |
A |
G |
7: 46,426,466 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,323,034 (GRCm39) |
|
probably benign |
Het |
| Kansl1l |
A |
G |
1: 66,760,047 (GRCm39) |
V911A |
probably benign |
Het |
| Kdm3b |
C |
T |
18: 34,957,827 (GRCm39) |
T1064I |
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,899,279 (GRCm39) |
Q1654L |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,666,404 (GRCm39) |
T1366A |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,330,892 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
| Napb |
G |
A |
2: 148,540,843 (GRCm39) |
|
probably benign |
Het |
| Npc1 |
G |
C |
18: 12,341,424 (GRCm39) |
P532A |
probably benign |
Het |
| Nrp2 |
G |
T |
1: 62,784,536 (GRCm39) |
K228N |
possibly damaging |
Het |
| Or13f5 |
T |
A |
4: 52,825,503 (GRCm39) |
Y35* |
probably null |
Het |
| Plekhg1 |
A |
T |
10: 3,890,504 (GRCm39) |
K241* |
probably null |
Het |
| Poln |
T |
C |
5: 34,234,432 (GRCm39) |
|
probably benign |
Het |
| Ppil1 |
A |
T |
17: 29,471,230 (GRCm39) |
F92I |
probably damaging |
Het |
| Ppp1r9b |
T |
G |
11: 94,892,046 (GRCm39) |
F154V |
probably damaging |
Het |
| Ptchd3 |
T |
G |
11: 121,733,798 (GRCm39) |
L896R |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,700,827 (GRCm39) |
N1775D |
possibly damaging |
Het |
| Rusc2 |
T |
C |
4: 43,424,100 (GRCm39) |
|
probably benign |
Het |
| Selenbp2 |
T |
C |
3: 94,610,816 (GRCm39) |
V294A |
probably benign |
Het |
| Slc25a48 |
T |
C |
13: 56,599,024 (GRCm39) |
V118A |
probably damaging |
Het |
| Slc38a2 |
C |
T |
15: 96,589,173 (GRCm39) |
|
probably null |
Het |
| Slc39a12 |
A |
G |
2: 14,440,489 (GRCm39) |
E480G |
probably benign |
Het |
| Tab2 |
C |
A |
10: 7,795,441 (GRCm39) |
R347L |
probably damaging |
Het |
| Tas2r123 |
T |
C |
6: 132,824,955 (GRCm39) |
I284T |
possibly damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,892,696 (GRCm39) |
D212E |
probably benign |
Het |
| Trim67 |
T |
C |
8: 125,521,307 (GRCm39) |
V223A |
probably damaging |
Het |
| Ugcg |
A |
G |
4: 59,217,130 (GRCm39) |
D218G |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,695,725 (GRCm39) |
L229S |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,816,706 (GRCm39) |
L198I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACAGACGCTGACTCGGAAAAGG -3'
(R):5'- TGTAGTATCGCCCAGCTAGTGACC -3'
Sequencing Primer
(F):5'- CTCGGAAAAGGTGAGAGCC -3'
(R):5'- AGCTAGTGACCTTGACATCAG -3'
|
| Posted On |
2014-06-10 |
Incidental Mutation