Incidental Mutation 'R2972:Slc10a5'
ID |
255238 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R2972 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
10396794-10400716 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 10399517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 381
(I381N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065938]
[ENSMUST00000078748]
[ENSMUST00000118410]
[ENSMUST00000128912]
[ENSMUST00000191670]
[ENSMUST00000192603]
|
AlphaFold |
Q5PT54 |
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: I381N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000077808 Gene: ENSMUSG00000058921 AA Change: I381N
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 |
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 benign
Transcript: ENSMUST00000192603
|
SMART Domains |
Protein: ENSMUSP00000141735 Gene: ENSMUSG00000103392
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
Card9 |
C |
T |
2: 26,247,222 (GRCm39) |
R309H |
probably damaging |
Het |
Clec14a |
T |
A |
12: 58,314,360 (GRCm39) |
R421W |
probably damaging |
Het |
Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
Dhrs7c |
T |
A |
11: 67,706,697 (GRCm39) |
I285N |
possibly damaging |
Het |
Golga2 |
A |
G |
2: 32,195,671 (GRCm39) |
N752S |
probably benign |
Het |
Klrb1-ps1 |
A |
G |
6: 129,096,719 (GRCm39) |
|
noncoding transcript |
Het |
Nin |
G |
A |
12: 70,109,487 (GRCm39) |
R151C |
probably damaging |
Het |
Nsun6 |
A |
C |
2: 15,042,883 (GRCm39) |
|
probably null |
Het |
Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
Or1n2 |
G |
A |
2: 36,797,416 (GRCm39) |
V153M |
probably benign |
Het |
Or4a69 |
G |
T |
2: 89,313,120 (GRCm39) |
R120S |
possibly damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,410,644 (GRCm39) |
M2717K |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,867,540 (GRCm39) |
K5E |
possibly damaging |
Het |
Rnf130 |
T |
A |
11: 49,984,627 (GRCm39) |
L309* |
probably null |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
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 |
R2973:Slc10a5
|
UTSW |
3 |
10,399,517 (GRCm39) |
missense |
probably damaging |
0.98 |
R4241:Slc10a5
|
UTSW |
3 |
10,400,520 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGCTTGAAGGTGACTATAGTGC -3'
(R):5'- GGGCATCTACTTGGCTTTCC -3'
Sequencing Primer
(F):5'- AAGGTGACTATAGTGCATCTGC -3'
(R):5'- CATCTACTTGGCTTTCCGGATGG -3'
|
Posted On |
2014-12-29 |