Incidental Mutation 'R2321:Slc26a4'
| ID |
245651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a4
|
| Ensembl Gene |
ENSMUSG00000020651 |
| Gene Name |
solute carrier family 26, member 4 |
| Synonyms |
pendrin, Pds |
| MMRRC Submission |
040313-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
31569826-31609968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31590543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 370
(V370A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001253]
|
| AlphaFold |
Q9R155 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001253
AA Change: V370A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001253
Gene: ENSMUSG00000020651
AA Change: V370A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
47 |
N/A |
INTRINSIC |
|
Pfam:Sulfate_transp
|
84 |
485 |
1e-105 |
PFAM |
|
low complexity region
|
492 |
507 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
536 |
725 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218992
|
| Meta Mutation Damage Score |
0.1260 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are completely deaf with vestibular dysfunction. Mutants show endolymphatic dilatation, degeneration of sensory cells and malformations of otoconia and otoconial membranes. They display unsteady gait and circling and head bobbing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abcf2 |
A |
T |
5: 24,772,251 (GRCm39) |
Y492* |
probably null |
Het |
| Adcy9 |
A |
G |
16: 4,106,132 (GRCm39) |
V994A |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,231,733 (GRCm39) |
|
probably benign |
Het |
| Bhlha15 |
T |
C |
5: 144,128,014 (GRCm39) |
L42P |
probably damaging |
Het |
| Clca4b |
C |
A |
3: 144,638,134 (GRCm39) |
A43S |
probably benign |
Het |
| Cpq |
A |
G |
15: 33,594,291 (GRCm39) |
H434R |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,822 (GRCm39) |
E994G |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,715,672 (GRCm39) |
L263S |
probably benign |
Het |
| Dnajc12 |
G |
T |
10: 63,242,990 (GRCm39) |
|
probably benign |
Het |
| Fbxo32 |
T |
C |
15: 58,054,689 (GRCm39) |
I215V |
possibly damaging |
Het |
| Krtap17-1 |
T |
C |
11: 99,884,746 (GRCm39) |
D7G |
unknown |
Het |
| Men1 |
A |
G |
19: 6,389,868 (GRCm39) |
D466G |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,933,436 (GRCm39) |
F624I |
possibly damaging |
Het |
| Ncam1 |
A |
C |
9: 49,456,132 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,107 (GRCm39) |
N268S |
probably benign |
Het |
| Otol1 |
T |
A |
3: 69,925,858 (GRCm39) |
L11* |
probably null |
Het |
| Plekhg4 |
T |
C |
8: 106,104,172 (GRCm39) |
S447P |
probably benign |
Het |
| Pnma8b |
G |
T |
7: 16,679,490 (GRCm39) |
R158L |
unknown |
Het |
| Ppp1r2 |
A |
T |
16: 31,084,121 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
G |
A |
12: 11,507,058 (GRCm39) |
G327R |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,390,863 (GRCm39) |
T208A |
unknown |
Het |
| Reln |
T |
C |
5: 22,120,018 (GRCm39) |
Y2878C |
probably damaging |
Het |
| Rnps1 |
T |
A |
17: 24,641,142 (GRCm39) |
F181I |
probably damaging |
Het |
| Senp6 |
A |
C |
9: 80,031,022 (GRCm39) |
I575L |
possibly damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,995,592 (GRCm39) |
D330G |
probably damaging |
Het |
| Slamf9 |
G |
T |
1: 172,304,980 (GRCm39) |
C198F |
probably damaging |
Het |
| Slc22a13 |
A |
T |
9: 119,024,694 (GRCm39) |
V261D |
possibly damaging |
Het |
| Tasp1 |
A |
G |
2: 139,899,332 (GRCm39) |
M7T |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,192,100 (GRCm39) |
N778S |
possibly damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,046,506 (GRCm39) |
Y582N |
probably damaging |
Het |
| Tmem131l |
T |
A |
3: 83,843,330 (GRCm39) |
H508L |
probably damaging |
Het |
| Tmem71 |
T |
G |
15: 66,423,849 (GRCm39) |
D139A |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,324,229 (GRCm39) |
R418G |
possibly damaging |
Het |
| Wdr64 |
A |
C |
1: 175,622,653 (GRCm39) |
K810T |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,356,056 (GRCm39) |
Y427* |
probably null |
Het |
|
| Other mutations in Slc26a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01754:Slc26a4
|
APN |
12 |
31,578,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL01763:Slc26a4
|
APN |
12 |
31,578,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL01778:Slc26a4
|
APN |
12 |
31,578,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL01779:Slc26a4
|
APN |
12 |
31,578,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL01872:Slc26a4
|
APN |
12 |
31,589,202 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02016:Slc26a4
|
APN |
12 |
31,585,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02184:Slc26a4
|
APN |
12 |
31,599,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02267:Slc26a4
|
APN |
12 |
31,578,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL02270:Slc26a4
|
APN |
12 |
31,578,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL02271:Slc26a4
|
APN |
12 |
31,578,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL02347:Slc26a4
|
APN |
12 |
31,578,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL02543:Slc26a4
|
APN |
12 |
31,578,688 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02803:Slc26a4
|
APN |
12 |
31,572,526 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02885:Slc26a4
|
APN |
12 |
31,575,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02974:Slc26a4
|
APN |
12 |
31,579,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03037:Slc26a4
|
APN |
12 |
31,581,686 (GRCm39) |
splice site |
probably benign |
|
|
cul-de-sac
|
UTSW |
12 |
31,575,567 (GRCm39) |
nonsense |
probably null |
|
|
discobolus
|
UTSW |
12 |
31,590,532 (GRCm39) |
nonsense |
probably null |
|
|
R0152:Slc26a4
|
UTSW |
12 |
31,579,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0677:Slc26a4
|
UTSW |
12 |
31,599,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0961:Slc26a4
|
UTSW |
12 |
31,585,618 (GRCm39) |
missense |
probably benign |
|
|
R1025:Slc26a4
|
UTSW |
12 |
31,578,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1301:Slc26a4
|
UTSW |
12 |
31,575,567 (GRCm39) |
nonsense |
probably null |
|
|
R1729:Slc26a4
|
UTSW |
12 |
31,594,493 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3967:Slc26a4
|
UTSW |
12 |
31,578,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3970:Slc26a4
|
UTSW |
12 |
31,578,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:Slc26a4
|
UTSW |
12 |
31,590,532 (GRCm39) |
nonsense |
probably null |
|
|
R4370:Slc26a4
|
UTSW |
12 |
31,579,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4647:Slc26a4
|
UTSW |
12 |
31,590,525 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4648:Slc26a4
|
UTSW |
12 |
31,590,525 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5816:Slc26a4
|
UTSW |
12 |
31,578,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5932:Slc26a4
|
UTSW |
12 |
31,585,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6675:Slc26a4
|
UTSW |
12 |
31,590,512 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6732:Slc26a4
|
UTSW |
12 |
31,576,599 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6890:Slc26a4
|
UTSW |
12 |
31,599,950 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7231:Slc26a4
|
UTSW |
12 |
31,597,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:Slc26a4
|
UTSW |
12 |
31,579,527 (GRCm39) |
nonsense |
probably null |
|
|
R7790:Slc26a4
|
UTSW |
12 |
31,594,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7812:Slc26a4
|
UTSW |
12 |
31,594,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8002:Slc26a4
|
UTSW |
12 |
31,597,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8362:Slc26a4
|
UTSW |
12 |
31,594,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8531:Slc26a4
|
UTSW |
12 |
31,599,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8988:Slc26a4
|
UTSW |
12 |
31,572,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9216:Slc26a4
|
UTSW |
12 |
31,578,659 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9335:Slc26a4
|
UTSW |
12 |
31,575,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9354:Slc26a4
|
UTSW |
12 |
31,585,255 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9680:Slc26a4
|
UTSW |
12 |
31,585,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Slc26a4
|
UTSW |
12 |
31,585,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGACTTGGTATGCATATTTCAA -3'
(R):5'- TACCACGTCACTGAGTGAAGAG -3'
Sequencing Primer
(F):5'- TCCTTAGGTGAACCCCAAG -3'
(R):5'- CACTGAGTGAAGAGAGTGTTTGGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation