Incidental Mutation 'R5657:Slc26a10'
| ID |
442390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a10
|
| Ensembl Gene |
ENSMUSG00000040441 |
| Gene Name |
solute carrier family 26, member 10 |
| Synonyms |
|
| MMRRC Submission |
043171-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5657 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127007262-127016514 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 127010833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006914]
[ENSMUST00000095270]
[ENSMUST00000095270]
[ENSMUST00000217678]
[ENSMUST00000222911]
|
| AlphaFold |
Q5EBI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006914
|
| SMART Domains |
Protein: ENSMUSP00000006914
Gene: ENSMUSG00000006731
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
202 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
280 |
450 |
7e-19 |
PFAM |
|
| Predicted Effect |
probably benign
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: 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: ENSMUST00000217678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221174
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222911
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,390 (GRCm39) |
Y533C |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,991,979 (GRCm39) |
V4421A |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,516,173 (GRCm39) |
K238R |
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,580,577 (GRCm39) |
V12D |
probably benign |
Het |
| Clca3b |
C |
A |
3: 144,533,144 (GRCm39) |
L629F |
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,511,431 (GRCm39) |
I292V |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,143,547 (GRCm39) |
S412P |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,949,397 (GRCm39) |
I746T |
probably damaging |
Het |
| Cracr2a |
G |
A |
6: 127,580,970 (GRCm39) |
A49T |
probably damaging |
Het |
| Cyb561d1 |
A |
G |
3: 108,108,008 (GRCm39) |
I28T |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,847,352 (GRCm39) |
M4264L |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,105,736 (GRCm39) |
L412S |
probably damaging |
Het |
| Dpf3 |
T |
C |
12: 83,371,785 (GRCm39) |
N150S |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,050,805 (GRCm39) |
C854R |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,507 (GRCm39) |
Y522* |
probably null |
Het |
| Foxm1 |
A |
T |
6: 128,350,351 (GRCm39) |
S551C |
possibly damaging |
Het |
| Galnt12 |
T |
C |
4: 47,104,150 (GRCm39) |
V136A |
possibly damaging |
Het |
| Gm6647 |
T |
G |
5: 13,818,835 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
A |
6: 135,710,085 (GRCm39) |
I1154F |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,534,313 (GRCm39) |
V2987A |
probably benign |
Het |
| Jade2 |
A |
G |
11: 51,707,814 (GRCm39) |
S800P |
probably damaging |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,366 (GRCm39) |
N195S |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Plod1 |
T |
C |
4: 148,003,238 (GRCm39) |
E529G |
possibly damaging |
Het |
| Plppr2 |
T |
C |
9: 21,858,911 (GRCm39) |
C343R |
probably damaging |
Het |
| Prpf38a |
T |
C |
4: 108,425,621 (GRCm39) |
D219G |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,346,204 (GRCm39) |
E122K |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,472,416 (GRCm39) |
M38V |
probably benign |
Het |
| Reep1 |
A |
G |
6: 71,738,358 (GRCm39) |
M39V |
possibly damaging |
Het |
| Rsf1 |
GC |
GCGGCGGCGTC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
| Sun2 |
C |
A |
15: 79,612,150 (GRCm39) |
E510* |
probably null |
Het |
| Tanc1 |
A |
G |
2: 59,665,051 (GRCm39) |
|
probably null |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tor1aip1 |
G |
T |
1: 155,883,234 (GRCm39) |
H205N |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,609,808 (GRCm39) |
T92I |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,178 (GRCm39) |
F36I |
probably benign |
Het |
| Zfp787 |
T |
C |
7: 6,136,053 (GRCm39) |
Y66C |
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 |
|
R2423:Slc26a10
|
UTSW |
10 |
127,015,606 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
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'- TTTGGTCCATGGCAAAACCG -3'
(R):5'- TTTTGAAGAAGATGAGACAGGCTAGTC -3'
Sequencing Primer
(F):5'- AAAACCGGGGCGCTTGG -3'
(R):5'- CTAGTCGGCCAGGGAGAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation