Incidental Mutation 'R4241:Slc10a5'
ID |
320203 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc10a5
|
Ensembl Gene |
ENSMUSG00000058921 |
Gene Name |
solute carrier family 10 (sodium/bile acid cotransporter family), member 5 |
Synonyms |
LOC241877 |
MMRRC Submission |
041058-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R4241 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
10396794-10400716 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10400520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 47
(S47P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037839]
[ENSMUST00000065938]
[ENSMUST00000078748]
[ENSMUST00000118410]
[ENSMUST00000128912]
[ENSMUST00000191670]
[ENSMUST00000192603]
|
AlphaFold |
Q5PT54 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037839
|
SMART Domains |
Protein: ENSMUSP00000037459 Gene: ENSMUSG00000039795
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
1.4e-8 |
SMART |
ZnF_AN1
|
64 |
103 |
2.64e-4 |
SMART |
low complexity region
|
121 |
142 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000065938
|
SMART Domains |
Protein: ENSMUSP00000068174 Gene: ENSMUSG00000027531
Domain | Start | End | E-Value | Type |
Pfam:Inositol_P
|
5 |
271 |
1.5e-86 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078748
AA Change: S47P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077808 Gene: ENSMUSG00000058921 AA Change: S47P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:SBF
|
144 |
328 |
1.1e-34 |
PFAM |
transmembrane domain
|
336 |
358 |
N/A |
INTRINSIC |
transmembrane domain
|
365 |
384 |
N/A |
INTRINSIC |
transmembrane domain
|
394 |
416 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118410
|
SMART Domains |
Protein: ENSMUSP00000113860 Gene: ENSMUSG00000027531
Domain | Start | End | E-Value | Type |
Pfam:Inositol_P
|
5 |
271 |
7.7e-79 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125734
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128912
|
SMART Domains |
Protein: ENSMUSP00000116088 Gene: ENSMUSG00000027531
Domain | Start | End | E-Value | Type |
Pfam:Inositol_P
|
19 |
90 |
4.4e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191670
|
SMART Domains |
Protein: ENSMUSP00000141345 Gene: ENSMUSG00000027531
Domain | Start | End | E-Value | Type |
Pfam:Inositol_P
|
5 |
180 |
4.7e-49 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192603
AA Change: S47P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141735 Gene: ENSMUSG00000103392 AA Change: S47P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2455 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
T |
3: 116,548,497 (GRCm39) |
|
probably benign |
Het |
Ap5b1 |
C |
T |
19: 5,618,825 (GRCm39) |
L82F |
possibly damaging |
Het |
Arfgef3 |
A |
G |
10: 18,500,912 (GRCm39) |
S1113P |
probably damaging |
Het |
Atoh1 |
A |
C |
6: 64,706,758 (GRCm39) |
N151T |
probably damaging |
Het |
Bcas3 |
T |
A |
11: 85,361,652 (GRCm39) |
S25R |
probably damaging |
Het |
Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
Btbd6 |
C |
T |
12: 112,940,416 (GRCm39) |
A13V |
probably benign |
Het |
Ccdc83 |
A |
C |
7: 89,896,346 (GRCm39) |
N74K |
probably damaging |
Het |
Cdh9 |
A |
G |
15: 16,849,165 (GRCm39) |
|
probably null |
Het |
Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
Col16a1 |
G |
T |
4: 129,992,843 (GRCm39) |
Q1567H |
probably damaging |
Het |
Coq6 |
A |
T |
12: 84,420,563 (GRCm39) |
|
probably benign |
Het |
Cpd |
T |
C |
11: 76,737,611 (GRCm39) |
D61G |
probably benign |
Het |
Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
Cyp2d41-ps |
T |
A |
15: 82,663,787 (GRCm39) |
|
noncoding transcript |
Het |
Dbt |
T |
C |
3: 116,326,945 (GRCm39) |
I98T |
probably damaging |
Het |
Eif3e |
G |
A |
15: 43,126,086 (GRCm39) |
T287I |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,853,760 (GRCm39) |
S1575G |
probably damaging |
Het |
Gm7135 |
A |
G |
1: 97,281,678 (GRCm39) |
|
noncoding transcript |
Het |
Gpr176 |
A |
T |
2: 118,110,091 (GRCm39) |
S389R |
probably benign |
Het |
Hax1 |
A |
G |
3: 89,902,997 (GRCm39) |
S257P |
probably damaging |
Het |
Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
Kynu |
A |
T |
2: 43,571,422 (GRCm39) |
H446L |
probably benign |
Het |
Lingo1 |
A |
G |
9: 56,527,386 (GRCm39) |
F401S |
probably damaging |
Het |
Lmbrd1 |
C |
T |
1: 24,732,049 (GRCm39) |
Q89* |
probably null |
Het |
Mov10 |
T |
A |
3: 104,704,592 (GRCm39) |
Q773L |
probably benign |
Het |
Or52e19 |
G |
T |
7: 102,959,868 (GRCm39) |
*313Y |
probably null |
Het |
Or7c70 |
T |
A |
10: 78,683,739 (GRCm39) |
R3S |
probably benign |
Het |
Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
Peli3 |
T |
C |
19: 4,982,426 (GRCm39) |
H413R |
probably damaging |
Het |
Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
Sprr3 |
A |
G |
3: 92,364,214 (GRCm39) |
V210A |
possibly damaging |
Het |
Tcerg1l |
G |
T |
7: 137,999,361 (GRCm39) |
Q8K |
unknown |
Het |
Ubfd1 |
T |
C |
7: 121,670,977 (GRCm39) |
V265A |
possibly damaging |
Het |
Ubr1 |
T |
C |
2: 120,764,867 (GRCm39) |
D529G |
possibly damaging |
Het |
Vmn1r180 |
A |
T |
7: 23,652,298 (GRCm39) |
I154F |
probably damaging |
Het |
Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
Whrn |
C |
T |
4: 63,351,210 (GRCm39) |
|
probably benign |
Het |
Zfr |
T |
G |
15: 12,149,745 (GRCm39) |
D388E |
probably damaging |
Het |
Zic5 |
T |
C |
14: 122,702,075 (GRCm39) |
I219V |
probably benign |
Het |
Zmat5 |
A |
G |
11: 4,678,614 (GRCm39) |
N53D |
probably benign |
Het |
|
Other mutations in Slc10a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01102:Slc10a5
|
APN |
3 |
10,400,369 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01785:Slc10a5
|
APN |
3 |
10,400,259 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01823:Slc10a5
|
APN |
3 |
10,399,574 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01915:Slc10a5
|
APN |
3 |
10,400,580 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02522:Slc10a5
|
APN |
3 |
10,400,181 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02721:Slc10a5
|
APN |
3 |
10,399,595 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4382001:Slc10a5
|
UTSW |
3 |
10,400,507 (GRCm39) |
missense |
probably benign |
|
R0558:Slc10a5
|
UTSW |
3 |
10,400,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R0961:Slc10a5
|
UTSW |
3 |
10,399,484 (GRCm39) |
missense |
probably benign |
0.00 |
R1747:Slc10a5
|
UTSW |
3 |
10,400,451 (GRCm39) |
missense |
probably benign |
0.04 |
R1889:Slc10a5
|
UTSW |
3 |
10,400,550 (GRCm39) |
missense |
probably benign |
0.33 |
R2130:Slc10a5
|
UTSW |
3 |
10,400,278 (GRCm39) |
missense |
probably benign |
|
R2171:Slc10a5
|
UTSW |
3 |
10,400,342 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2970:Slc10a5
|
UTSW |
3 |
10,400,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R2972:Slc10a5
|
UTSW |
3 |
10,399,517 (GRCm39) |
missense |
probably damaging |
0.98 |
R2973:Slc10a5
|
UTSW |
3 |
10,399,517 (GRCm39) |
missense |
probably damaging |
0.98 |
R4700:Slc10a5
|
UTSW |
3 |
10,400,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R4700:Slc10a5
|
UTSW |
3 |
10,400,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Slc10a5
|
UTSW |
3 |
10,400,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R4834:Slc10a5
|
UTSW |
3 |
10,399,859 (GRCm39) |
missense |
probably damaging |
0.97 |
R4891:Slc10a5
|
UTSW |
3 |
10,399,685 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5220:Slc10a5
|
UTSW |
3 |
10,400,148 (GRCm39) |
nonsense |
probably null |
|
R5548:Slc10a5
|
UTSW |
3 |
10,399,377 (GRCm39) |
missense |
probably benign |
|
R5748:Slc10a5
|
UTSW |
3 |
10,400,391 (GRCm39) |
missense |
probably benign |
0.00 |
R6573:Slc10a5
|
UTSW |
3 |
10,400,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R6909:Slc10a5
|
UTSW |
3 |
10,400,655 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7355:Slc10a5
|
UTSW |
3 |
10,399,375 (GRCm39) |
nonsense |
probably null |
|
R7807:Slc10a5
|
UTSW |
3 |
10,400,529 (GRCm39) |
missense |
probably benign |
0.00 |
R7866:Slc10a5
|
UTSW |
3 |
10,399,532 (GRCm39) |
missense |
probably damaging |
0.99 |
R8219:Slc10a5
|
UTSW |
3 |
10,400,384 (GRCm39) |
missense |
probably benign |
0.32 |
R8975:Slc10a5
|
UTSW |
3 |
10,399,670 (GRCm39) |
missense |
probably benign |
0.17 |
R9044:Slc10a5
|
UTSW |
3 |
10,399,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R9514:Slc10a5
|
UTSW |
3 |
10,400,532 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1176:Slc10a5
|
UTSW |
3 |
10,399,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGTCCGTCTGTCTGAACAC -3'
(R):5'- GGGTAGGCACACATGGTTTG -3'
Sequencing Primer
(F):5'- ACATTCTTTAGCTCGTCGATGAG -3'
(R):5'- GGTAGGCACACATGGTTTGTTTAAAC -3'
|
Posted On |
2015-06-12 |