Incidental Mutation 'R2973:Slc10a5'
| ID |
255265 |
| 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 |
040526-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R2973 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Angptl7 |
T |
A |
4: 148,584,671 (GRCm39) |
K26* |
probably null |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,734,931 (GRCm39) |
|
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,255,132 (GRCm39) |
F187S |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,251,442 (GRCm39) |
Y530H |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cst9 |
G |
T |
2: 148,677,145 (GRCm39) |
|
probably null |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,373,957 (GRCm39) |
S461P |
probably benign |
Het |
| Dhx36 |
T |
A |
3: 62,402,916 (GRCm39) |
N279Y |
probably benign |
Het |
| Dhx36 |
C |
G |
3: 62,402,919 (GRCm39) |
G278R |
possibly damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,798,644 (GRCm39) |
I510T |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,872,759 (GRCm39) |
E54G |
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Hesx1 |
A |
G |
14: 26,722,599 (GRCm39) |
|
probably benign |
Het |
| Il5ra |
G |
A |
6: 106,718,196 (GRCm39) |
P86L |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,248,871 (GRCm39) |
K177R |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,216,347 (GRCm39) |
|
probably benign |
Het |
| Lrrc42 |
A |
T |
4: 107,096,311 (GRCm39) |
D40E |
probably damaging |
Het |
| Mefv |
G |
A |
16: 3,533,558 (GRCm39) |
R238* |
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,884,338 (GRCm39) |
M400K |
probably damaging |
Het |
| Or12j2 |
T |
G |
7: 139,916,300 (GRCm39) |
F175C |
probably damaging |
Het |
| Or5ac22 |
A |
C |
16: 59,135,767 (GRCm39) |
M1R |
probably null |
Het |
| Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,464,144 (GRCm39) |
K35E |
probably benign |
Het |
| Ppef2 |
T |
C |
5: 92,386,953 (GRCm39) |
E328G |
probably benign |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Rtn1 |
C |
A |
12: 72,270,163 (GRCm39) |
R116L |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,776,086 (GRCm39) |
H31R |
probably benign |
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 |
| Tm9sf1 |
T |
A |
14: 55,878,571 (GRCm39) |
T274S |
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,632,661 (GRCm39) |
I12385S |
probably damaging |
Het |
| Ube2e2 |
T |
C |
14: 18,630,321 (GRCm38) |
D137G |
possibly 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 |
| Vcp |
T |
A |
4: 42,996,315 (GRCm39) |
I16F |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably 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 |
|
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 |
|
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'- GAAGGTGACTATAGTGCATCTGC -3'
(R):5'- TTCGTGGGCATCTACTTGGC -3'
Sequencing Primer
(F):5'- TGACTATAGTGCATCTGCTGTAC -3'
(R):5'- CATCTACTTGGCTTTCCGGATGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation