Incidental Mutation 'R1202:Slc26a10'
ID |
100213 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc26a10
|
Ensembl Gene |
ENSMUSG00000040441 |
Gene Name |
solute carrier family 26, member 10 |
Synonyms |
|
MMRRC Submission |
039272-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1202 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
127007262-127016514 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127009217 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 648
(L648P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006914]
[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 damaging
Transcript: ENSMUST00000095270
AA Change: L648P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092904 Gene: ENSMUSG00000040441 AA Change: L648P
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: ENSMUST00000219523
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220055
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222911
AA Change: L640P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220327
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221174
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
T |
C |
4: 144,250,236 (GRCm39) |
F137L |
probably benign |
Het |
Cct3 |
T |
C |
3: 88,225,835 (GRCm39) |
|
probably null |
Het |
Fermt3 |
A |
G |
19: 6,980,850 (GRCm39) |
F294L |
probably damaging |
Het |
Fmn2 |
A |
T |
1: 174,440,101 (GRCm39) |
K58* |
probably null |
Het |
Fndc5 |
G |
A |
4: 129,033,238 (GRCm39) |
V102M |
probably damaging |
Het |
Gle1 |
C |
T |
2: 29,839,277 (GRCm39) |
A523V |
probably damaging |
Het |
Hoxd11 |
C |
T |
2: 74,512,921 (GRCm39) |
A62V |
possibly damaging |
Het |
Il23r |
A |
G |
6: 67,455,937 (GRCm39) |
V177A |
possibly damaging |
Het |
Impdh2 |
G |
A |
9: 108,440,386 (GRCm39) |
R224Q |
probably damaging |
Het |
Larp4b |
A |
G |
13: 9,216,362 (GRCm39) |
T516A |
possibly damaging |
Het |
Mtmr2 |
T |
C |
9: 13,714,748 (GRCm39) |
Y431H |
probably benign |
Het |
N4bp1 |
T |
C |
8: 87,571,515 (GRCm39) |
T828A |
probably benign |
Het |
Nphp4 |
G |
A |
4: 152,573,186 (GRCm39) |
|
probably null |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
Pacs1 |
G |
A |
19: 5,185,265 (GRCm39) |
P885S |
probably damaging |
Het |
Scn3a |
T |
C |
2: 65,336,491 (GRCm39) |
N705S |
probably benign |
Het |
Sema4g |
G |
T |
19: 44,986,696 (GRCm39) |
R383L |
probably benign |
Het |
St8sia2 |
A |
T |
7: 73,621,783 (GRCm39) |
V37E |
probably benign |
Het |
Tmem209 |
C |
G |
6: 30,508,789 (GRCm39) |
V6L |
probably benign |
Het |
Tmprss11a |
T |
A |
5: 86,559,784 (GRCm39) |
|
probably null |
Het |
Ube2o |
C |
T |
11: 116,432,408 (GRCm39) |
D853N |
probably damaging |
Het |
Usp17lb |
G |
A |
7: 104,491,695 (GRCm39) |
S6F |
probably damaging |
Het |
Vmn2r74 |
G |
A |
7: 85,610,545 (GRCm39) |
T49I |
possibly damaging |
Het |
Zfp236 |
T |
A |
18: 82,646,291 (GRCm39) |
T1041S |
probably benign |
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 |
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 |
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'- GCCCTCCAATCTACTAGGCAGCTTC -3'
(R):5'- GAAAAGCTCCCAGTCATCCCTCTTG -3'
Sequencing Primer
(F):5'- AATCTACTAGGCAGCTTCTCTCTAC -3'
(R):5'- GCACCCTCGATTTGGGTTTAAC -3'
|
Posted On |
2014-01-15 |