Incidental Mutation 'IGL01526:Slc4a1ap'
ID |
89579 |
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? |
Possibly essential
(E-score: 0.743)
|
Stock # |
IGL01526
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
31684339-31714276 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 31685571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 283
(T283K)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065388]
[ENSMUST00000114533]
[ENSMUST00000200721]
[ENSMUST00000202214]
[ENSMUST00000201858]
[ENSMUST00000202950]
[ENSMUST00000202421]
[ENSMUST00000201769]
|
AlphaFold |
E9PX68 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065388
|
SMART Domains |
Protein: ENSMUSP00000067337 Gene: ENSMUSG00000053134
Domain | Start | End | E-Value | Type |
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
low complexity region
|
95 |
117 |
N/A |
INTRINSIC |
BTP
|
149 |
228 |
5.13e-25 |
SMART |
low complexity region
|
378 |
393 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114533
AA Change: T283K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000110179 Gene: ENSMUSG00000029141 AA Change: T283K
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 |
possibly damaging
Transcript: ENSMUST00000117262
AA Change: T283K
PolyPhen 2
Score 0.860 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112619 Gene: ENSMUSG00000029141 AA Change: T283K
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 |
probably benign
Transcript: ENSMUST00000200721
|
SMART Domains |
Protein: ENSMUSP00000144294 Gene: ENSMUSG00000053134
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
40 |
N/A |
INTRINSIC |
low complexity region
|
46 |
68 |
N/A |
INTRINSIC |
BTP
|
100 |
179 |
5.13e-25 |
SMART |
low complexity region
|
329 |
344 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201294
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201481
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202214
AA Change: T283K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000144613 Gene: ENSMUSG00000029141 AA Change: T283K
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 |
possibly damaging
Transcript: ENSMUST00000201858
AA Change: T283K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143960 Gene: ENSMUSG00000029141 AA Change: T283K
Domain | Start | End | E-Value | Type |
FHA
|
134 |
195 |
3.21e-13 |
SMART |
Blast:DSRM
|
316 |
385 |
2e-41 |
BLAST |
low complexity region
|
405 |
419 |
N/A |
INTRINSIC |
coiled coil region
|
443 |
475 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202950
AA Change: T283K
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144257 Gene: ENSMUSG00000029141 AA Change: T283K
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: ENSMUST00000202932
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201692
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202421
|
SMART Domains |
Protein: ENSMUSP00000143795 Gene: ENSMUSG00000053134
Domain | Start | End | E-Value | Type |
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
low complexity region
|
95 |
117 |
N/A |
INTRINSIC |
BTP
|
149 |
228 |
5.13e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201769
|
SMART Domains |
Protein: ENSMUSP00000144065 Gene: ENSMUSG00000053134
Domain | Start | End | E-Value | Type |
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
low complexity region
|
95 |
117 |
N/A |
INTRINSIC |
BTP
|
149 |
228 |
5.13e-25 |
SMART |
low complexity region
|
378 |
393 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500002C15Rik |
G |
T |
4: 155,818,628 (GRCm39) |
|
probably benign |
Het |
4933430I17Rik |
G |
T |
4: 62,450,858 (GRCm39) |
R107L |
possibly damaging |
Het |
Acvr1 |
A |
T |
2: 58,348,997 (GRCm39) |
D388E |
probably benign |
Het |
Art3 |
T |
C |
5: 92,562,199 (GRCm39) |
S354P |
probably damaging |
Het |
Bpnt1 |
C |
A |
1: 185,077,591 (GRCm39) |
S102* |
probably null |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Cfap65 |
A |
T |
1: 74,950,237 (GRCm39) |
S1171T |
probably damaging |
Het |
Cracd |
T |
A |
5: 77,005,478 (GRCm39) |
M613K |
unknown |
Het |
Csn2 |
T |
C |
5: 87,842,838 (GRCm39) |
H47R |
possibly damaging |
Het |
Gm14496 |
T |
A |
2: 181,637,458 (GRCm39) |
D177E |
probably benign |
Het |
Hmbs |
A |
G |
9: 44,250,845 (GRCm39) |
V126A |
possibly damaging |
Het |
Ica1l |
A |
G |
1: 60,054,916 (GRCm39) |
M105T |
probably damaging |
Het |
Morc2a |
G |
A |
11: 3,600,428 (GRCm39) |
E17K |
probably benign |
Het |
Mroh8 |
T |
C |
2: 157,080,232 (GRCm39) |
|
probably benign |
Het |
Mroh9 |
G |
T |
1: 162,883,172 (GRCm39) |
L436I |
probably damaging |
Het |
Nup54 |
T |
C |
5: 92,565,334 (GRCm39) |
D461G |
probably benign |
Het |
Or10ag2 |
A |
T |
2: 87,249,319 (GRCm39) |
D309V |
probably damaging |
Het |
Or2t45 |
A |
G |
11: 58,669,123 (GRCm39) |
T57A |
probably benign |
Het |
Pcid2 |
G |
A |
8: 13,135,319 (GRCm39) |
|
probably benign |
Het |
Ppp1r3b |
G |
T |
8: 35,851,872 (GRCm39) |
R237L |
probably benign |
Het |
Prdm11 |
A |
G |
2: 92,843,102 (GRCm39) |
V119A |
probably damaging |
Het |
S100a7l2 |
T |
A |
3: 90,995,612 (GRCm39) |
|
probably benign |
Het |
Serpina5 |
T |
A |
12: 104,068,149 (GRCm39) |
V70E |
probably damaging |
Het |
Skap2 |
C |
T |
6: 51,884,894 (GRCm39) |
D249N |
probably benign |
Het |
Slc22a29 |
A |
T |
19: 8,184,542 (GRCm39) |
|
probably benign |
Het |
Slc6a21 |
T |
G |
7: 44,937,220 (GRCm39) |
I575S |
probably damaging |
Het |
Smpd1 |
T |
G |
7: 105,203,982 (GRCm39) |
W82G |
probably benign |
Het |
Snx14 |
T |
A |
9: 88,263,553 (GRCm39) |
M897L |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,972,406 (GRCm39) |
V586A |
probably damaging |
Het |
Tmc8 |
T |
C |
11: 117,682,910 (GRCm39) |
|
probably benign |
Het |
Trim34a |
A |
G |
7: 103,909,706 (GRCm39) |
Y298C |
probably damaging |
Het |
Ube3c |
T |
C |
5: 29,872,960 (GRCm39) |
V1000A |
probably damaging |
Het |
|
Other mutations in Slc4a1ap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00769:Slc4a1ap
|
APN |
5 |
31,711,121 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-12-03 |