Incidental Mutation 'R6227:Slc26a5'
| ID |
504393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a5
|
| Ensembl Gene |
ENSMUSG00000029015 |
| Gene Name |
solute carrier family 26, member 5 |
| Synonyms |
prestin, Pres |
| MMRRC Submission |
044398-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6227 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
22015653-22070602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22026095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 378
(C378S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030878]
[ENSMUST00000115176]
[ENSMUST00000127975]
[ENSMUST00000142888]
|
| AlphaFold |
Q99NH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030878
AA Change: C415S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: C415S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_transp
|
80 |
475 |
3.3e-109 |
PFAM |
|
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
526 |
709 |
3.3e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115176
AA Change: C378S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: C378S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
65 |
106 |
5.2e-9 |
PFAM |
|
Pfam:Sulfate_transp
|
156 |
434 |
1.6e-65 |
PFAM |
|
transmembrane domain
|
439 |
461 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
489 |
672 |
1.5e-27 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127975
AA Change: C415S
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: C415S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
65 |
148 |
4.3e-33 |
PFAM |
|
Pfam:Sulfate_transp
|
193 |
440 |
8.9e-56 |
PFAM |
|
transmembrane domain
|
447 |
469 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
494 |
677 |
4.1e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142888
|
| SMART Domains |
Protein: ENSMUSP00000118263
Gene: ENSMUSG00000029015
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
65 |
148 |
2.1e-33 |
PFAM |
|
Pfam:Sulfate_transp
|
193 |
441 |
9.6e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150012
|
| Meta Mutation Damage Score |
0.2810 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (61/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
PHENOTYPE: Cochlear sensitivity is decreased in mutant due to a loss of outer hair cell electromotility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
C |
2: 19,558,581 (GRCm39) |
|
probably null |
Het |
| Abca4 |
T |
A |
3: 121,930,743 (GRCm39) |
Y205* |
probably null |
Het |
| Adgrf1 |
A |
G |
17: 43,621,164 (GRCm39) |
D467G |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,510,841 (GRCm39) |
D550G |
possibly damaging |
Het |
| Bicd1 |
T |
A |
6: 149,414,674 (GRCm39) |
Y462* |
probably null |
Het |
| Cfap97 |
T |
C |
8: 46,644,769 (GRCm39) |
|
probably null |
Het |
| Csf1r |
T |
A |
18: 61,258,900 (GRCm39) |
Y706* |
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dst |
A |
G |
1: 34,233,621 (GRCm39) |
D3443G |
probably benign |
Het |
| Fktn |
C |
T |
4: 53,731,136 (GRCm39) |
A96V |
probably benign |
Het |
| Inppl1 |
G |
A |
7: 101,473,506 (GRCm39) |
T1048M |
possibly damaging |
Het |
| Itga2 |
T |
C |
13: 114,976,097 (GRCm39) |
T1092A |
probably benign |
Het |
| Lactbl1 |
C |
A |
4: 136,365,229 (GRCm39) |
A527E |
probably benign |
Het |
| Miga1 |
C |
T |
3: 151,984,586 (GRCm39) |
A510T |
probably benign |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Naca |
T |
G |
10: 127,879,785 (GRCm39) |
|
probably benign |
Het |
| Or51f5 |
A |
T |
7: 102,423,883 (GRCm39) |
I51F |
probably damaging |
Het |
| Or52l1 |
T |
C |
7: 104,829,917 (GRCm39) |
Y216C |
probably damaging |
Het |
| Or6c69 |
T |
A |
10: 129,747,536 (GRCm39) |
T204S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,783,862 (GRCm39) |
M1986K |
probably damaging |
Het |
| Pex6 |
T |
A |
17: 47,023,034 (GRCm39) |
D203E |
probably benign |
Het |
| Rlbp1 |
T |
C |
7: 79,029,876 (GRCm39) |
N119S |
probably benign |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Rusc1 |
T |
A |
3: 88,999,048 (GRCm39) |
T245S |
probably benign |
Het |
| Smtn |
A |
G |
11: 3,477,624 (GRCm39) |
|
probably benign |
Het |
| Tes3-ps |
T |
C |
13: 49,647,516 (GRCm39) |
C131R |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,911,190 (GRCm39) |
E331G |
probably null |
Het |
| Tlr4 |
T |
C |
4: 66,758,832 (GRCm39) |
Y542H |
probably benign |
Het |
| Trf |
G |
A |
9: 103,107,504 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,435,748 (GRCm39) |
H234L |
probably benign |
Het |
| Zan |
T |
G |
5: 137,466,605 (GRCm39) |
R417S |
probably damaging |
Het |
| Zfp213 |
T |
C |
17: 23,776,996 (GRCm39) |
T349A |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc26a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01412:Slc26a5
|
APN |
5 |
22,020,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02486:Slc26a5
|
APN |
5 |
22,051,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02639:Slc26a5
|
APN |
5 |
22,024,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02810:Slc26a5
|
APN |
5 |
22,018,381 (GRCm39) |
splice site |
probably benign |
|
|
R0002:Slc26a5
|
UTSW |
5 |
22,019,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0002:Slc26a5
|
UTSW |
5 |
22,019,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Slc26a5
|
UTSW |
5 |
22,016,342 (GRCm39) |
splice site |
probably null |
|
|
R0136:Slc26a5
|
UTSW |
5 |
22,039,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Slc26a5
|
UTSW |
5 |
22,028,547 (GRCm39) |
nonsense |
probably null |
|
|
R0522:Slc26a5
|
UTSW |
5 |
22,051,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0557:Slc26a5
|
UTSW |
5 |
22,024,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Slc26a5
|
UTSW |
5 |
22,052,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0959:Slc26a5
|
UTSW |
5 |
22,021,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1214:Slc26a5
|
UTSW |
5 |
22,019,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Slc26a5
|
UTSW |
5 |
22,021,962 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1647:Slc26a5
|
UTSW |
5 |
22,018,974 (GRCm39) |
nonsense |
probably null |
|
|
R1648:Slc26a5
|
UTSW |
5 |
22,018,974 (GRCm39) |
nonsense |
probably null |
|
|
R1861:Slc26a5
|
UTSW |
5 |
22,021,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1875:Slc26a5
|
UTSW |
5 |
22,020,725 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2106:Slc26a5
|
UTSW |
5 |
22,028,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Slc26a5
|
UTSW |
5 |
22,018,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2219:Slc26a5
|
UTSW |
5 |
22,028,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Slc26a5
|
UTSW |
5 |
22,028,545 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2281:Slc26a5
|
UTSW |
5 |
22,036,508 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2325:Slc26a5
|
UTSW |
5 |
22,024,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4031:Slc26a5
|
UTSW |
5 |
22,052,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Slc26a5
|
UTSW |
5 |
22,042,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Slc26a5
|
UTSW |
5 |
22,025,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Slc26a5
|
UTSW |
5 |
22,052,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5274:Slc26a5
|
UTSW |
5 |
22,018,899 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5312:Slc26a5
|
UTSW |
5 |
22,052,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5628:Slc26a5
|
UTSW |
5 |
22,021,974 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5806:Slc26a5
|
UTSW |
5 |
22,028,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Slc26a5
|
UTSW |
5 |
22,025,348 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6609:Slc26a5
|
UTSW |
5 |
22,024,717 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6885:Slc26a5
|
UTSW |
5 |
22,039,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Slc26a5
|
UTSW |
5 |
22,045,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Slc26a5
|
UTSW |
5 |
22,016,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Slc26a5
|
UTSW |
5 |
22,021,972 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7174:Slc26a5
|
UTSW |
5 |
22,018,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7184:Slc26a5
|
UTSW |
5 |
22,042,244 (GRCm39) |
nonsense |
probably null |
|
|
R7650:Slc26a5
|
UTSW |
5 |
22,039,328 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8431:Slc26a5
|
UTSW |
5 |
22,018,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8812:Slc26a5
|
UTSW |
5 |
22,018,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Slc26a5
|
UTSW |
5 |
22,018,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9215:Slc26a5
|
UTSW |
5 |
22,042,285 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9281:Slc26a5
|
UTSW |
5 |
22,019,051 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9324:Slc26a5
|
UTSW |
5 |
22,018,334 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9516:Slc26a5
|
UTSW |
5 |
22,016,337 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGGTAACCCTGCTAACG -3'
(R):5'- CAGTTCAGATCAATGTTTGGAAAGG -3'
Sequencing Primer
(F):5'- GGTAACCCTGCTAACGATACATTAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation