Incidental Mutation 'R2101:Slc38a10'
ID |
230521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc38a10
|
Ensembl Gene |
ENSMUSG00000061306 |
Gene Name |
solute carrier family 38, member 10 |
Synonyms |
1810073N04Rik |
MMRRC Submission |
040105-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2101 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
119994786-120042172 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120023567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 283
(V283E)
|
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: V283E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048675 Gene: ENSMUSG00000061306 AA Change: V283E
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: V283E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057615 Gene: ENSMUSG00000061306 AA Change: V283E
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
381 |
8.6e-57 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076697
AA Change: V283E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075989 Gene: ENSMUSG00000061306 AA Change: V283E
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
389 |
4.7e-57 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103018
AA Change: V283E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099307 Gene: ENSMUSG00000061306 AA Change: V283E
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: ENSMUST00000150315
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179094
AA Change: V283E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136719 Gene: ENSMUSG00000061306 AA Change: V283E
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
|
Meta Mutation Damage Score |
0.9513 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (67/67) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
G |
A |
2: 103,397,207 (GRCm39) |
A46T |
probably benign |
Het |
Agap3 |
T |
A |
5: 24,692,797 (GRCm39) |
L47Q |
probably damaging |
Het |
Apaf1 |
T |
G |
10: 90,895,942 (GRCm39) |
I377L |
probably benign |
Het |
Astn2 |
G |
A |
4: 65,499,923 (GRCm39) |
R937* |
probably null |
Het |
Cacnb1 |
A |
C |
11: 97,896,554 (GRCm39) |
V369G |
probably damaging |
Het |
Cdc42bpa |
G |
T |
1: 179,974,533 (GRCm39) |
V1464L |
probably benign |
Het |
Cdkn2aip |
A |
T |
8: 48,166,036 (GRCm39) |
M90K |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,239,877 (GRCm39) |
D1650E |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,783,699 (GRCm39) |
T639A |
probably damaging |
Het |
Cluh |
G |
T |
11: 74,551,328 (GRCm39) |
|
probably benign |
Het |
Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
Col11a2 |
A |
T |
17: 34,271,143 (GRCm39) |
D528V |
probably damaging |
Het |
Cyfip2 |
A |
G |
11: 46,133,270 (GRCm39) |
L810P |
probably damaging |
Het |
D430041D05Rik |
A |
G |
2: 103,979,175 (GRCm39) |
V2084A |
probably damaging |
Het |
Dcc |
G |
A |
18: 71,943,941 (GRCm39) |
H237Y |
possibly damaging |
Het |
Ddx60 |
T |
A |
8: 62,393,679 (GRCm39) |
F38L |
probably damaging |
Het |
Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
Dock5 |
G |
T |
14: 68,031,459 (GRCm39) |
F990L |
probably benign |
Het |
Dpy19l1 |
A |
T |
9: 24,393,331 (GRCm39) |
V146E |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,411,549 (GRCm39) |
T1776A |
probably benign |
Het |
Enpep |
C |
T |
3: 129,092,587 (GRCm39) |
S532N |
probably benign |
Het |
Gdf6 |
A |
G |
4: 9,860,025 (GRCm39) |
D369G |
probably damaging |
Het |
Gtf2b |
T |
C |
3: 142,477,144 (GRCm39) |
|
probably benign |
Het |
Hmbox1 |
A |
G |
14: 65,066,028 (GRCm39) |
|
probably benign |
Het |
Hps3 |
C |
A |
3: 20,066,947 (GRCm39) |
V540F |
possibly damaging |
Het |
Hsd3b6 |
T |
A |
3: 98,713,553 (GRCm39) |
I249F |
possibly damaging |
Het |
Hunk |
T |
A |
16: 90,229,388 (GRCm39) |
|
probably null |
Het |
Kidins220 |
T |
A |
12: 25,107,422 (GRCm39) |
L1625Q |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Myo10 |
T |
A |
15: 25,722,345 (GRCm39) |
L186Q |
probably benign |
Het |
N4bp2 |
T |
A |
5: 65,948,224 (GRCm39) |
W285R |
probably damaging |
Het |
Nat8l |
T |
C |
5: 34,155,716 (GRCm39) |
L124P |
probably damaging |
Het |
Nemp2 |
T |
C |
1: 52,680,225 (GRCm39) |
|
probably null |
Het |
Nkain2 |
G |
A |
10: 32,205,813 (GRCm39) |
T74I |
possibly damaging |
Het |
Nol4 |
A |
G |
18: 22,956,466 (GRCm39) |
S239P |
probably damaging |
Het |
Or4c118 |
T |
A |
2: 88,975,301 (GRCm39) |
E22V |
probably benign |
Het |
Pcbp3 |
T |
C |
10: 76,625,589 (GRCm39) |
I152V |
possibly damaging |
Het |
Pcp4l1 |
G |
T |
1: 171,003,174 (GRCm39) |
P10Q |
probably damaging |
Het |
Pla1a |
T |
C |
16: 38,235,730 (GRCm39) |
N135D |
probably damaging |
Het |
Plb1 |
T |
A |
5: 32,507,004 (GRCm39) |
M1193K |
probably damaging |
Het |
Prc1 |
T |
C |
7: 79,962,032 (GRCm39) |
V73A |
probably benign |
Het |
Prkd2 |
T |
A |
7: 16,603,490 (GRCm39) |
W807R |
probably damaging |
Het |
Prp2rt |
G |
T |
13: 97,235,730 (GRCm39) |
R6S |
probably damaging |
Het |
Ptprb |
C |
T |
10: 116,150,943 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,319,559 (GRCm39) |
I993V |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,704,092 (GRCm39) |
V2046A |
probably benign |
Het |
Rnpep |
G |
T |
1: 135,199,355 (GRCm39) |
N334K |
probably damaging |
Het |
Sarm1 |
G |
A |
11: 78,366,115 (GRCm39) |
P695S |
probably damaging |
Het |
Sf3a3 |
C |
T |
4: 124,612,136 (GRCm39) |
T131I |
possibly damaging |
Het |
Slco6c1 |
A |
T |
1: 97,000,595 (GRCm39) |
L552* |
probably null |
Het |
Tas2r136 |
T |
C |
6: 132,754,495 (GRCm39) |
M211V |
probably benign |
Het |
Tax1bp3 |
G |
A |
11: 73,071,947 (GRCm39) |
D65N |
probably damaging |
Het |
Tdrd5 |
A |
G |
1: 156,129,209 (GRCm39) |
F167S |
probably damaging |
Het |
Tfeb |
G |
A |
17: 48,100,590 (GRCm39) |
V269M |
probably damaging |
Het |
Tspan12 |
A |
T |
6: 21,799,887 (GRCm39) |
F153L |
probably benign |
Het |
Txnrd1 |
T |
G |
10: 82,717,573 (GRCm39) |
L186V |
probably damaging |
Het |
Upk1b |
A |
T |
16: 38,600,499 (GRCm39) |
C160* |
probably null |
Het |
Uty |
T |
C |
Y: 1,176,541 (GRCm39) |
Q172R |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,437 (GRCm39) |
K114E |
possibly damaging |
Het |
Vmn2r99 |
T |
G |
17: 19,598,253 (GRCm39) |
N92K |
probably damaging |
Het |
Vstm2a |
T |
A |
11: 16,213,191 (GRCm39) |
M192K |
probably benign |
Het |
Zc3h12c |
A |
G |
9: 52,027,721 (GRCm39) |
V547A |
probably benign |
Het |
Zfp944 |
T |
A |
17: 22,558,809 (GRCm39) |
N146I |
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 |
R0743:Slc38a10
|
UTSW |
11 |
120,031,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R1159:Slc38a10
|
UTSW |
11 |
119,996,301 (GRCm39) |
missense |
probably benign |
|
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'- TAAGCCAAGACTTCACTTCACTTG -3'
(R):5'- ACTGGCAGATACAGAGCTGG -3'
Sequencing Primer
(F):5'- ACCAGTCGGATGTCTCAGCAAG -3'
(R):5'- ATACAGAGCTGGCCTCATTG -3'
|
Posted On |
2014-09-18 |