Incidental Mutation 'R2423:Slc26a10'
| ID |
249445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a10
|
| Ensembl Gene |
ENSMUSG00000040441 |
| Gene Name |
solute carrier family 26, member 10 |
| Synonyms |
|
| MMRRC Submission |
040385-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2423 (G1)
|
| Quality Score |
168 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127007262-127016514 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 127015606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019611]
[ENSMUST00000095270]
[ENSMUST00000167353]
[ENSMUST00000218654]
[ENSMUST00000222911]
[ENSMUST00000222006]
|
| AlphaFold |
Q5EBI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019611
|
| SMART Domains |
Protein: ENSMUSP00000019611
Gene: ENSMUSG00000019467
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
171 |
N/A |
INTRINSIC |
|
RhoGEF
|
203 |
374 |
2.45e-49 |
SMART |
|
PH
|
394 |
507 |
6.67e-1 |
SMART |
|
low complexity region
|
561 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000095270
|
| SMART Domains |
Protein: ENSMUSP00000092904
Gene: ENSMUSG00000040441
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
Pfam:Sulfate_transp
|
105 |
497 |
5.5e-103 |
PFAM |
|
low complexity region
|
512 |
522 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
549 |
664 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167353
|
| SMART Domains |
Protein: ENSMUSP00000126339
Gene: ENSMUSG00000019467
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
162 |
N/A |
INTRINSIC |
|
RhoGEF
|
194 |
365 |
2.45e-49 |
SMART |
|
PH
|
385 |
498 |
6.67e-1 |
SMART |
|
low complexity region
|
552 |
560 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219428
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219587
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222911
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220295
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222006
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer2 |
T |
C |
14: 60,616,656 (GRCm39) |
S284P |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,462,532 (GRCm39) |
V614A |
probably benign |
Het |
| Arhgap9 |
A |
T |
10: 127,162,993 (GRCm39) |
|
probably null |
Het |
| Brf1 |
G |
A |
12: 112,963,819 (GRCm39) |
A53V |
probably benign |
Het |
| Cyp1a2 |
C |
T |
9: 57,587,232 (GRCm39) |
R353Q |
probably damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,754 (GRCm39) |
S269* |
probably null |
Het |
| F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,855,071 (GRCm39) |
E1430V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,795,274 (GRCm39) |
K2986R |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,780,584 (GRCm39) |
V494L |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,992,727 (GRCm39) |
T293I |
probably damaging |
Het |
| Neto2 |
C |
T |
8: 86,396,396 (GRCm39) |
R83Q |
probably damaging |
Het |
| Ocm |
A |
T |
5: 143,961,388 (GRCm39) |
|
probably null |
Het |
| Or52z14 |
C |
T |
7: 103,253,241 (GRCm39) |
R127C |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,140,477 (GRCm39) |
I702T |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rbbp8nl |
A |
T |
2: 179,922,764 (GRCm39) |
S210T |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,813,774 (GRCm39) |
I340F |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,388,724 (GRCm39) |
L216P |
possibly damaging |
Het |
| Slc34a1 |
G |
A |
13: 55,556,865 (GRCm39) |
A235T |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,010,772 (GRCm39) |
T2089A |
probably benign |
Het |
| Srek1 |
G |
C |
13: 103,889,536 (GRCm39) |
S260* |
probably null |
Het |
| Sspo |
T |
C |
6: 48,430,989 (GRCm39) |
V624A |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,349,795 (GRCm39) |
I251V |
probably benign |
Het |
| Tmem248 |
T |
C |
5: 130,258,403 (GRCm39) |
I32T |
probably damaging |
Het |
| Tnk1 |
T |
G |
11: 69,746,587 (GRCm39) |
T209P |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,250 (GRCm39) |
R142* |
probably null |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vldlr |
C |
T |
19: 27,213,688 (GRCm39) |
T125I |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,378,087 (GRCm39) |
T1033A |
probably benign |
Het |
| Wiz |
A |
C |
17: 32,580,859 (GRCm39) |
H197Q |
probably damaging |
Het |
|
| Other mutations in Slc26a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Slc26a10
|
APN |
10 |
127,010,046 (GRCm39) |
splice site |
probably benign |
|
|
IGL01657:Slc26a10
|
APN |
10 |
127,010,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1202:Slc26a10
|
UTSW |
10 |
127,009,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1844:Slc26a10
|
UTSW |
10 |
127,014,279 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4031:Slc26a10
|
UTSW |
10 |
127,013,871 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4779:Slc26a10
|
UTSW |
10 |
127,009,224 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5405:Slc26a10
|
UTSW |
10 |
127,010,864 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5478:Slc26a10
|
UTSW |
10 |
127,009,818 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5657:Slc26a10
|
UTSW |
10 |
127,010,833 (GRCm39) |
intron |
probably benign |
|
|
R5990:Slc26a10
|
UTSW |
10 |
127,014,627 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6681:Slc26a10
|
UTSW |
10 |
127,009,530 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7083:Slc26a10
|
UTSW |
10 |
127,013,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Slc26a10
|
UTSW |
10 |
127,012,716 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7997:Slc26a10
|
UTSW |
10 |
127,009,178 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8211:Slc26a10
|
UTSW |
10 |
127,009,834 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8268:Slc26a10
|
UTSW |
10 |
127,009,491 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8906:Slc26a10
|
UTSW |
10 |
127,016,459 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9390:Slc26a10
|
UTSW |
10 |
127,009,239 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Slc26a10
|
UTSW |
10 |
127,015,527 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTATGCCTCAAGTCCCTGTC -3'
(R):5'- TTGTAGAGAGGCACAAAACCTG -3'
Sequencing Primer
(F):5'- GTCTATTTTCATCCCAAAGAGAAGC -3'
(R):5'- CAAGGATCTGTGACCTTGTCAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation