Incidental Mutation 'R6844:Slc4a1ap'
ID |
534665 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc4a1ap
|
Ensembl Gene |
ENSMUSG00000029141 |
Gene Name |
solute carrier family 4 (anion exchanger), member 1, adaptor protein |
Synonyms |
kanadaptin |
MMRRC Submission |
044950-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.755)
|
Stock # |
R6844 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31684339-31714276 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 31684822 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 153
(S153T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144257
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065388]
[ENSMUST00000114533]
[ENSMUST00000200721]
[ENSMUST00000201769]
[ENSMUST00000201858]
[ENSMUST00000202214]
[ENSMUST00000202421]
[ENSMUST00000202950]
|
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 |
probably damaging
Transcript: ENSMUST00000114533
AA Change: S153T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110179 Gene: ENSMUSG00000029141 AA Change: S153T
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 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 |
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201858
AA Change: S153T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143960 Gene: ENSMUSG00000029141 AA Change: S153T
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 |
probably damaging
Transcript: ENSMUST00000202214
AA Change: S153T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144613 Gene: ENSMUSG00000029141 AA Change: S153T
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 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 damaging
Transcript: ENSMUST00000202950
AA Change: S153T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144257 Gene: ENSMUSG00000029141 AA Change: S153T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
92% (36/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap18 |
G |
A |
10: 26,648,682 (GRCm39) |
A35T |
probably benign |
Het |
Arhgap21 |
A |
G |
2: 20,886,116 (GRCm39) |
S354P |
probably benign |
Het |
Casq2 |
A |
T |
3: 102,017,578 (GRCm39) |
H86L |
possibly damaging |
Het |
Ccdc188 |
G |
A |
16: 18,036,074 (GRCm39) |
G83E |
probably damaging |
Het |
Cd22 |
G |
T |
7: 30,572,856 (GRCm39) |
|
probably null |
Het |
Cyp2b13 |
T |
A |
7: 25,781,122 (GRCm39) |
I178N |
probably damaging |
Het |
Cyp4a31 |
T |
A |
4: 115,420,989 (GRCm39) |
C26S |
probably null |
Het |
Eif3h |
T |
C |
15: 51,728,729 (GRCm39) |
D42G |
possibly damaging |
Het |
Elovl4 |
T |
A |
9: 83,672,164 (GRCm39) |
I52L |
probably benign |
Het |
Fgfbp3 |
C |
A |
19: 36,896,280 (GRCm39) |
A113S |
possibly damaging |
Het |
Fsip2 |
A |
T |
2: 82,813,969 (GRCm39) |
K3429N |
possibly damaging |
Het |
Gemin5 |
T |
C |
11: 58,054,730 (GRCm39) |
D224G |
probably benign |
Het |
Gm3415 |
T |
C |
5: 146,494,811 (GRCm39) |
I158T |
probably benign |
Het |
Gpr22 |
C |
A |
12: 31,759,951 (GRCm39) |
R20L |
probably benign |
Het |
Htr1a |
A |
G |
13: 105,581,455 (GRCm39) |
K232E |
possibly damaging |
Het |
Itgax |
T |
A |
7: 127,747,106 (GRCm39) |
|
probably null |
Het |
Jag2 |
T |
C |
12: 112,880,334 (GRCm39) |
Y310C |
probably damaging |
Het |
Lce1j |
A |
G |
3: 92,696,656 (GRCm39) |
S41P |
unknown |
Het |
Mllt10 |
A |
G |
2: 18,164,294 (GRCm39) |
I197V |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Mybpc1 |
T |
A |
10: 88,372,243 (GRCm39) |
I796F |
possibly damaging |
Het |
Nr2c1 |
T |
A |
10: 94,007,029 (GRCm39) |
L289* |
probably null |
Het |
Omp |
T |
A |
7: 97,794,283 (GRCm39) |
M115L |
probably benign |
Het |
Pdcd1 |
C |
T |
1: 93,967,106 (GRCm39) |
R264H |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,476,136 (GRCm39) |
F1119L |
probably benign |
Het |
Ralyl |
A |
G |
3: 13,841,938 (GRCm39) |
T25A |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,064,970 (GRCm39) |
T656A |
probably damaging |
Het |
Ripor3 |
C |
T |
2: 167,835,253 (GRCm39) |
|
probably null |
Het |
Samd8 |
T |
C |
14: 21,825,205 (GRCm39) |
S54P |
probably damaging |
Het |
Serpinb9g |
A |
T |
13: 33,670,616 (GRCm39) |
I35F |
probably damaging |
Het |
Shisa8 |
T |
C |
15: 82,096,310 (GRCm39) |
S102G |
probably damaging |
Het |
Slc4a4 |
T |
A |
5: 89,376,831 (GRCm39) |
D1028E |
probably damaging |
Het |
Slc6a13 |
T |
A |
6: 121,302,012 (GRCm39) |
I198N |
probably damaging |
Het |
Sst |
C |
T |
16: 23,708,592 (GRCm39) |
D80N |
probably benign |
Het |
Synj2 |
A |
G |
17: 6,026,081 (GRCm39) |
K47E |
probably damaging |
Het |
Tal1 |
C |
T |
4: 114,920,464 (GRCm39) |
P46L |
probably benign |
Het |
Top2b |
A |
T |
14: 16,429,383 (GRCm38) |
N1541I |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,877,736 (GRCm39) |
N2903K |
probably benign |
Het |
Zfp949 |
A |
G |
9: 88,451,464 (GRCm39) |
T345A |
possibly damaging |
Het |
Zmat3 |
A |
G |
3: 32,395,644 (GRCm39) |
Y288H |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGAAGAAAGAATGTCTCGCG -3'
(R):5'- ATTACATGCCCGACGTGGAC -3'
Sequencing Primer
(F):5'- ACTCTGGATGTGAGGAGCC -3'
(R):5'- CGTGGACTCTACAGTAAGTGC -3'
|
Posted On |
2018-09-12 |