Incidental Mutation 'IGL01785:Slc10a5'
| ID |
153781 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01785
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
10396794-10400716 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 10400259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 134
(P134S)
|
| 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 benign
Transcript: ENSMUST00000078748
AA Change: P134S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000077808
Gene: ENSMUSG00000058921
AA Change: P134S
| 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 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
A |
5: 8,965,058 (GRCm39) |
Y309* |
probably null |
Het |
| Abhd18 |
G |
A |
3: 40,860,339 (GRCm39) |
R42Q |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,513,060 (GRCm39) |
Q645L |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,425,466 (GRCm39) |
L272Q |
possibly damaging |
Het |
| Clec1b |
A |
G |
6: 129,380,525 (GRCm39) |
D115G |
probably damaging |
Het |
| Clec2e |
A |
T |
6: 129,070,364 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
C |
5: 72,497,219 (GRCm39) |
N532S |
probably damaging |
Het |
| Csn1s2b |
A |
G |
5: 87,957,772 (GRCm39) |
K2R |
possibly damaging |
Het |
| Mcm8 |
A |
G |
2: 132,669,868 (GRCm39) |
D314G |
probably benign |
Het |
| Mga |
T |
A |
2: 119,733,393 (GRCm39) |
D80E |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,563,144 (GRCm39) |
L744P |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,968,871 (GRCm39) |
L348* |
probably null |
Het |
| Or12j3 |
T |
A |
7: 139,953,038 (GRCm39) |
M162L |
probably benign |
Het |
| Or6z1 |
T |
C |
7: 6,504,899 (GRCm39) |
I109V |
probably benign |
Het |
| Otud3 |
T |
C |
4: 138,624,208 (GRCm39) |
D278G |
probably benign |
Het |
| Pdpr |
C |
A |
8: 111,856,288 (GRCm39) |
H670Q |
probably damaging |
Het |
| Phf21b |
C |
A |
15: 84,692,262 (GRCm39) |
|
probably benign |
Het |
| Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
| Ptprm |
G |
T |
17: 66,992,618 (GRCm39) |
N1366K |
probably damaging |
Het |
| Slc30a9 |
A |
G |
5: 67,503,581 (GRCm39) |
|
probably benign |
Het |
| Stat6 |
T |
A |
10: 127,493,096 (GRCm39) |
V576D |
probably damaging |
Het |
| Tmem132d |
T |
C |
5: 128,061,379 (GRCm39) |
I408V |
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,758 (GRCm39) |
E153G |
probably damaging |
Het |
| Tmod4 |
A |
G |
3: 95,032,929 (GRCm39) |
T22A |
probably benign |
Het |
| Tmprss7 |
C |
T |
16: 45,500,997 (GRCm39) |
G268D |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,715 (GRCm39) |
|
probably null |
Het |
| Trarg1 |
G |
A |
11: 76,571,292 (GRCm39) |
V103I |
probably benign |
Het |
| Ttc29 |
T |
C |
8: 79,008,970 (GRCm39) |
L280P |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,907,175 (GRCm39) |
E594G |
probably benign |
Het |
| Vmn1r31 |
A |
C |
6: 58,449,709 (GRCm39) |
M3R |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation