Incidental Mutation 'R4282:Slc38a10'
ID |
322957 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc38a10
|
Ensembl Gene |
ENSMUSG00000061306 |
Gene Name |
solute carrier family 38, member 10 |
Synonyms |
1810073N04Rik |
MMRRC Submission |
041650-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4282 (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 120020090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 321
(F321I)
|
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: F321I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048675 Gene: ENSMUSG00000061306 AA Change: F321I
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: F321I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057615 Gene: ENSMUSG00000061306 AA Change: F321I
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
381 |
8.6e-57 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076697
AA Change: F321I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075989 Gene: ENSMUSG00000061306 AA Change: F321I
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
4 |
389 |
4.7e-57 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103018
AA Change: F321I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099307 Gene: ENSMUSG00000061306 AA Change: F321I
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: ENSMUST00000154444
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179094
AA Change: F321I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136719 Gene: ENSMUSG00000061306 AA Change: F321I
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 |
|
Meta Mutation Damage Score |
0.5225 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (59/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700092K14Rik |
A |
C |
11: 114,089,970 (GRCm39) |
|
noncoding transcript |
Het |
Abca17 |
G |
T |
17: 24,518,034 (GRCm39) |
D758E |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,885,155 (GRCm39) |
V65A |
possibly damaging |
Het |
Adgra2 |
T |
A |
8: 27,609,272 (GRCm39) |
M616K |
possibly damaging |
Het |
Aldh3b2 |
A |
G |
19: 4,027,636 (GRCm39) |
D59G |
probably benign |
Het |
Ankrd28 |
A |
G |
14: 31,467,182 (GRCm39) |
V260A |
possibly damaging |
Het |
Bbs7 |
A |
G |
3: 36,627,720 (GRCm39) |
V689A |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,302,296 (GRCm39) |
F1653S |
probably benign |
Het |
Cd55b |
T |
C |
1: 130,344,596 (GRCm39) |
D213G |
probably damaging |
Het |
Colgalt2 |
G |
A |
1: 152,344,282 (GRCm39) |
V115M |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,447,427 (GRCm39) |
V1138A |
probably damaging |
Het |
Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
Dus2 |
C |
T |
8: 106,775,286 (GRCm39) |
A271V |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
Fancg |
T |
C |
4: 43,003,830 (GRCm39) |
D533G |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,340,770 (GRCm39) |
V1021A |
probably benign |
Het |
Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
Hspb6 |
T |
C |
7: 30,252,889 (GRCm39) |
S44P |
possibly damaging |
Het |
Jsrp1 |
T |
C |
10: 80,646,190 (GRCm39) |
I50V |
probably benign |
Het |
Kansl1 |
T |
C |
11: 104,269,515 (GRCm39) |
N476S |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,722,946 (GRCm39) |
D810G |
probably damaging |
Het |
Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
Maml2 |
C |
A |
9: 13,531,406 (GRCm39) |
L207I |
possibly damaging |
Het |
Myo3a |
A |
T |
2: 22,345,089 (GRCm39) |
E508D |
probably benign |
Het |
Nav1 |
T |
A |
1: 135,385,651 (GRCm39) |
|
probably benign |
Het |
Ndrg3 |
A |
T |
2: 156,790,214 (GRCm39) |
C90S |
possibly damaging |
Het |
Orc1 |
A |
G |
4: 108,463,471 (GRCm39) |
S663G |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,583,195 (GRCm39) |
L767H |
probably damaging |
Het |
Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
Por |
C |
A |
5: 135,744,815 (GRCm39) |
T26K |
possibly damaging |
Het |
Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
Qsox1 |
T |
A |
1: 155,662,671 (GRCm39) |
|
probably null |
Het |
Rad51ap2 |
T |
A |
12: 11,506,465 (GRCm39) |
V129D |
probably benign |
Het |
Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
Rxfp2 |
T |
G |
5: 149,993,735 (GRCm39) |
V585G |
possibly damaging |
Het |
Sftpd |
G |
A |
14: 40,894,537 (GRCm39) |
T294I |
probably benign |
Het |
Sh3gl1 |
A |
G |
17: 56,343,456 (GRCm39) |
S2P |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,074,687 (GRCm39) |
|
probably null |
Het |
Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
Slit1 |
T |
C |
19: 41,602,856 (GRCm39) |
E985G |
probably benign |
Het |
Smurf1 |
C |
T |
5: 144,819,403 (GRCm39) |
E575K |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
Tmem182 |
T |
C |
1: 40,877,530 (GRCm39) |
I135T |
probably damaging |
Het |
Tmem67 |
T |
C |
4: 12,073,922 (GRCm39) |
Y298C |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,462,641 (GRCm39) |
C1026R |
probably damaging |
Het |
Troap |
A |
G |
15: 98,976,713 (GRCm39) |
D279G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
Vmn2r25 |
A |
T |
6: 123,800,606 (GRCm39) |
C579S |
probably damaging |
Het |
Zbtb18 |
A |
G |
1: 177,275,045 (GRCm39) |
D126G |
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 |
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'- GGGAGTCATCTTAGCTGAATGC -3'
(R):5'- ATTAAAGCCGCTCAGCCAGATC -3'
Sequencing Primer
(F):5'- TGCTAAGCATAGGCCAGGGATATG -3'
(R):5'- GCTCAGCCAGATCTGATTATGC -3'
|
Posted On |
2015-06-20 |