Incidental Mutation 'IGL00769:Slc4a1ap'
ID |
14104 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc4a1ap
|
Ensembl Gene |
ENSMUSG00000029141 |
Gene Name |
solute carrier family 4 (anion exchanger), member 1, adaptor protein |
Synonyms |
kanadaptin |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.755)
|
Stock # |
IGL00769
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
31684339-31714276 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 31711121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 742
(Y742D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144257
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114533]
[ENSMUST00000202214]
[ENSMUST00000202950]
|
AlphaFold |
E9PX68 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114533
AA Change: Y713D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110179 Gene: ENSMUSG00000029141 AA Change: Y713D
Domain | Start | End | E-Value | Type |
FHA
|
134 |
195 |
3.21e-13 |
SMART |
Blast:DSRM
|
316 |
385 |
9e-41 |
BLAST |
low complexity region
|
405 |
419 |
N/A |
INTRINSIC |
coiled coil region
|
443 |
475 |
N/A |
INTRINSIC |
coiled coil region
|
588 |
619 |
N/A |
INTRINSIC |
low complexity region
|
622 |
631 |
N/A |
INTRINSIC |
low complexity region
|
666 |
679 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117262
AA Change: Y742D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112619 Gene: ENSMUSG00000029141 AA Change: Y742D
Domain | Start | End | E-Value | Type |
FHA
|
134 |
195 |
3.21e-13 |
SMART |
Blast:DSRM
|
316 |
385 |
1e-40 |
BLAST |
low complexity region
|
405 |
419 |
N/A |
INTRINSIC |
coiled coil region
|
443 |
475 |
N/A |
INTRINSIC |
coiled coil region
|
588 |
619 |
N/A |
INTRINSIC |
low complexity region
|
622 |
631 |
N/A |
INTRINSIC |
low complexity region
|
695 |
708 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000201789
AA Change: Y77D
|
Predicted Effect |
unknown
Transcript: ENSMUST00000201925
AA Change: S160R
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202214
AA Change: Y713D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144613 Gene: ENSMUSG00000029141 AA Change: Y713D
Domain | Start | End | E-Value | Type |
FHA
|
134 |
195 |
3.21e-13 |
SMART |
Blast:DSRM
|
316 |
385 |
9e-41 |
BLAST |
low complexity region
|
405 |
419 |
N/A |
INTRINSIC |
coiled coil region
|
443 |
475 |
N/A |
INTRINSIC |
coiled coil region
|
588 |
619 |
N/A |
INTRINSIC |
low complexity region
|
622 |
631 |
N/A |
INTRINSIC |
low complexity region
|
666 |
679 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000202273
AA Change: Y132D
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202299
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202950
AA Change: Y742D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144257 Gene: ENSMUSG00000029141 AA Change: Y742D
Domain | Start | End | E-Value | Type |
FHA
|
134 |
195 |
3.21e-13 |
SMART |
Blast:DSRM
|
316 |
385 |
1e-40 |
BLAST |
low complexity region
|
405 |
419 |
N/A |
INTRINSIC |
coiled coil region
|
443 |
475 |
N/A |
INTRINSIC |
coiled coil region
|
588 |
619 |
N/A |
INTRINSIC |
low complexity region
|
622 |
631 |
N/A |
INTRINSIC |
low complexity region
|
695 |
708 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202575
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
A |
G |
11: 48,839,039 (GRCm39) |
V516A |
possibly damaging |
Het |
Ambp |
G |
A |
4: 63,062,402 (GRCm39) |
T279I |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,465,322 (GRCm39) |
V285A |
possibly damaging |
Het |
Arfgef3 |
A |
G |
10: 18,536,352 (GRCm39) |
S220P |
probably benign |
Het |
Atp9b |
G |
T |
18: 80,956,068 (GRCm39) |
H129N |
probably benign |
Het |
Cdh10 |
C |
A |
15: 18,985,185 (GRCm39) |
P283Q |
possibly damaging |
Het |
Cep295 |
A |
G |
9: 15,237,440 (GRCm39) |
S1941P |
probably damaging |
Het |
Dmbt1 |
T |
A |
7: 130,684,230 (GRCm39) |
S575R |
probably damaging |
Het |
Dock11 |
A |
G |
X: 35,267,715 (GRCm39) |
N796S |
possibly damaging |
Het |
Enam |
A |
T |
5: 88,649,343 (GRCm39) |
Y284F |
possibly damaging |
Het |
F8 |
A |
T |
X: 74,377,786 (GRCm39) |
|
probably benign |
Het |
Fbxo42 |
C |
T |
4: 140,907,760 (GRCm39) |
T140M |
probably damaging |
Het |
Galnt13 |
G |
A |
2: 54,770,116 (GRCm39) |
E303K |
probably benign |
Het |
Minar2 |
T |
C |
18: 59,205,349 (GRCm39) |
S88P |
probably damaging |
Het |
Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
Msl3 |
T |
A |
X: 167,451,744 (GRCm39) |
E215V |
probably damaging |
Het |
Pglyrp3 |
A |
T |
3: 91,921,929 (GRCm39) |
|
probably benign |
Het |
Prdx1 |
G |
A |
4: 116,550,162 (GRCm39) |
D115N |
probably benign |
Het |
Psd3 |
A |
T |
8: 68,361,331 (GRCm39) |
|
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,325,100 (GRCm39) |
D602G |
probably damaging |
Het |
Spmap1 |
A |
G |
11: 97,662,407 (GRCm39) |
F155S |
probably damaging |
Het |
Ugt1a6a |
C |
T |
1: 88,066,772 (GRCm39) |
P193S |
probably damaging |
Het |
Vmn2r96 |
G |
A |
17: 18,804,081 (GRCm39) |
V252M |
probably benign |
Het |
Wdr53 |
G |
A |
16: 32,075,315 (GRCm39) |
W173* |
probably null |
Het |
|
Other mutations in Slc4a1ap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01526:Slc4a1ap
|
APN |
5 |
31,685,571 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1556:Slc4a1ap
|
UTSW |
5 |
31,691,554 (GRCm39) |
splice site |
probably null |
|
R1694:Slc4a1ap
|
UTSW |
5 |
31,701,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R1884:Slc4a1ap
|
UTSW |
5 |
31,691,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R3787:Slc4a1ap
|
UTSW |
5 |
31,685,483 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4510:Slc4a1ap
|
UTSW |
5 |
31,684,747 (GRCm39) |
missense |
probably benign |
0.00 |
R4511:Slc4a1ap
|
UTSW |
5 |
31,684,747 (GRCm39) |
missense |
probably benign |
0.00 |
R4562:Slc4a1ap
|
UTSW |
5 |
31,689,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R4828:Slc4a1ap
|
UTSW |
5 |
31,688,053 (GRCm39) |
nonsense |
probably null |
|
R5611:Slc4a1ap
|
UTSW |
5 |
31,711,173 (GRCm39) |
utr 3 prime |
probably benign |
|
R5648:Slc4a1ap
|
UTSW |
5 |
31,708,129 (GRCm39) |
splice site |
probably null |
|
R5991:Slc4a1ap
|
UTSW |
5 |
31,691,413 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6531:Slc4a1ap
|
UTSW |
5 |
31,705,982 (GRCm39) |
missense |
probably benign |
0.18 |
R6602:Slc4a1ap
|
UTSW |
5 |
31,684,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R6770:Slc4a1ap
|
UTSW |
5 |
31,685,226 (GRCm39) |
splice site |
probably null |
|
R6844:Slc4a1ap
|
UTSW |
5 |
31,684,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R7103:Slc4a1ap
|
UTSW |
5 |
31,701,201 (GRCm39) |
missense |
probably benign |
|
R7342:Slc4a1ap
|
UTSW |
5 |
31,693,634 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7378:Slc4a1ap
|
UTSW |
5 |
31,684,871 (GRCm39) |
missense |
probably benign |
|
R7527:Slc4a1ap
|
UTSW |
5 |
31,691,475 (GRCm39) |
missense |
probably benign |
0.04 |
R7603:Slc4a1ap
|
UTSW |
5 |
31,703,539 (GRCm39) |
missense |
|
|
R7608:Slc4a1ap
|
UTSW |
5 |
31,693,533 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7781:Slc4a1ap
|
UTSW |
5 |
31,684,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R8867:Slc4a1ap
|
UTSW |
5 |
31,708,059 (GRCm39) |
missense |
probably benign |
|
R9083:Slc4a1ap
|
UTSW |
5 |
31,684,457 (GRCm39) |
missense |
probably benign |
0.00 |
R9109:Slc4a1ap
|
UTSW |
5 |
31,693,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R9161:Slc4a1ap
|
UTSW |
5 |
31,685,474 (GRCm39) |
missense |
|
|
R9298:Slc4a1ap
|
UTSW |
5 |
31,693,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R9460:Slc4a1ap
|
UTSW |
5 |
31,685,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2012-12-06 |