Incidental Mutation 'R2362:Slc10a7'
| ID |
247188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc10a7
|
| Ensembl Gene |
ENSMUSG00000031684 |
| Gene Name |
solute carrier family 10 (sodium/bile acid cotransporter family), member 7 |
| Synonyms |
2410193C02Rik |
| MMRRC Submission |
040343-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.840)
|
| Stock # |
R2362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
79235975-79460632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79236261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 20
(I20V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034111]
[ENSMUST00000049245]
[ENSMUST00000209490]
[ENSMUST00000209992]
[ENSMUST00000210515]
[ENSMUST00000210630]
[ENSMUST00000211286]
[ENSMUST00000211719]
|
| AlphaFold |
Q5PT53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034111
AA Change: I20V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684
AA Change: I20V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SBF_like
|
10 |
324 |
1.9e-82 |
PFAM |
|
Pfam:SBF
|
44 |
224 |
2.9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049245
|
| SMART Domains |
Protein: ENSMUSP00000048153
Gene: ENSMUSG00000037070
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
9 |
82 |
2.31e-28 |
SMART |
|
low complexity region
|
91 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
168 |
N/A |
INTRINSIC |
|
Pfam:RBM1CTR
|
170 |
214 |
5.5e-26 |
PFAM |
|
low complexity region
|
215 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
387 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209490
AA Change: I20V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209992
AA Change: I20V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210515
AA Change: I20V
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210630
AA Change: I20V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211286
AA Change: I20V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211332
|
| Meta Mutation Damage Score |
0.1332 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
A |
T |
6: 132,604,442 (GRCm39) |
M1K |
probably null |
Het |
| Aadat |
A |
G |
8: 60,985,332 (GRCm39) |
|
probably benign |
Het |
| Acsm5 |
T |
C |
7: 119,127,649 (GRCm39) |
|
probably benign |
Het |
| Avl9 |
A |
T |
6: 56,713,555 (GRCm39) |
N271I |
probably benign |
Het |
| Ccdc30 |
T |
A |
4: 119,181,253 (GRCm39) |
N636I |
probably damaging |
Het |
| Cdr2 |
T |
G |
7: 120,569,554 (GRCm39) |
I62L |
possibly damaging |
Het |
| Ceacam23 |
T |
G |
7: 17,636,398 (GRCm39) |
|
noncoding transcript |
Het |
| Clk3 |
T |
C |
9: 57,661,902 (GRCm39) |
I382V |
possibly damaging |
Het |
| Ctsr |
T |
A |
13: 61,310,610 (GRCm39) |
E45V |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,463,802 (GRCm39) |
Y318C |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,878,745 (GRCm39) |
N578S |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,755 (GRCm39) |
M817K |
probably benign |
Het |
| Dtx4 |
A |
G |
19: 12,469,899 (GRCm39) |
V76A |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,218,427 (GRCm39) |
V430A |
probably benign |
Het |
| Fhip2b |
A |
G |
14: 70,823,805 (GRCm39) |
Y568H |
probably benign |
Het |
| Fxyd5 |
T |
C |
7: 30,735,896 (GRCm39) |
N104S |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,861,311 (GRCm39) |
D193G |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,628,084 (GRCm39) |
E542G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,411,393 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,346,327 (GRCm39) |
Y234F |
possibly damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,872 (GRCm39) |
H55L |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,927,123 (GRCm39) |
F429S |
probably damaging |
Het |
| Polr3e |
C |
G |
7: 120,541,787 (GRCm39) |
D623E |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,585,098 (GRCm39) |
Y1494H |
probably damaging |
Het |
| Rbm14 |
T |
C |
19: 4,851,735 (GRCm39) |
|
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,487,001 (GRCm39) |
D544G |
probably benign |
Het |
| Sort1 |
C |
T |
3: 108,253,981 (GRCm39) |
T549I |
possibly damaging |
Het |
| Stambpl1 |
G |
A |
19: 34,213,754 (GRCm39) |
V328I |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,248,284 (GRCm39) |
L528P |
probably damaging |
Het |
| Wbp11 |
A |
T |
6: 136,801,330 (GRCm39) |
M63K |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,236,560 (GRCm39) |
I1178N |
probably benign |
Het |
|
| Other mutations in Slc10a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00802:Slc10a7
|
APN |
8 |
79,425,209 (GRCm39) |
splice site |
probably benign |
|
|
IGL01589:Slc10a7
|
APN |
8 |
79,456,369 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01868:Slc10a7
|
APN |
8 |
79,423,965 (GRCm39) |
splice site |
probably null |
|
|
IGL02197:Slc10a7
|
APN |
8 |
79,242,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02205:Slc10a7
|
APN |
8 |
79,423,932 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03128:Slc10a7
|
APN |
8 |
79,251,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0123:Slc10a7
|
UTSW |
8 |
79,423,787 (GRCm39) |
splice site |
probably null |
|
|
R0134:Slc10a7
|
UTSW |
8 |
79,423,787 (GRCm39) |
splice site |
probably null |
|
|
R1973:Slc10a7
|
UTSW |
8 |
79,423,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2266:Slc10a7
|
UTSW |
8 |
79,236,264 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4756:Slc10a7
|
UTSW |
8 |
79,433,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5454:Slc10a7
|
UTSW |
8 |
79,413,253 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5753:Slc10a7
|
UTSW |
8 |
79,251,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6621:Slc10a7
|
UTSW |
8 |
79,242,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Slc10a7
|
UTSW |
8 |
79,425,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7977:Slc10a7
|
UTSW |
8 |
79,423,843 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7987:Slc10a7
|
UTSW |
8 |
79,423,843 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9141:Slc10a7
|
UTSW |
8 |
79,236,241 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9586:Slc10a7
|
UTSW |
8 |
79,456,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Slc10a7
|
UTSW |
8 |
79,456,304 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACTTGCTCTGCTGCATG -3'
(R):5'- TGATTGCCCGCAGAAAAGG -3'
Sequencing Primer
(F):5'- CTCTGCTGCATGTCTGGAG -3'
(R):5'- TCCTGGGCTAGCAAGTGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation