Incidental Mutation 'R6602:Slc4a1ap'
| ID |
525340 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6602 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31684339-31714276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31684985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 207
(H207R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065388]
[ENSMUST00000114533]
[ENSMUST00000200721]
[ENSMUST00000201858]
[ENSMUST00000202214]
[ENSMUST00000202950]
[ENSMUST00000201769]
[ENSMUST00000202421]
|
| 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: H207R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141
AA Change: H207R
| 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 |
noncoding transcript
Transcript: ENSMUST00000201294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201692
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201858
AA Change: H207R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143960
Gene: ENSMUSG00000029141
AA Change: H207R
| 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: H207R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141
AA Change: H207R
| 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: ENSMUST00000202950
AA Change: H207R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141
AA Change: H207R
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000202932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202016
|
| 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 |
|
| Meta Mutation Damage Score |
0.9110 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
G |
8: 125,365,993 (GRCm39) |
L250P |
probably damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,112,769 (GRCm39) |
H12R |
probably benign |
Het |
| Abca4 |
A |
C |
3: 121,932,150 (GRCm39) |
Q268P |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,195 (GRCm39) |
N963K |
probably benign |
Het |
| Arl10 |
A |
G |
13: 54,726,750 (GRCm39) |
D176G |
probably damaging |
Het |
| Btnl1 |
T |
A |
17: 34,604,722 (GRCm39) |
M501K |
probably damaging |
Het |
| Ccdc162 |
G |
T |
10: 41,491,976 (GRCm39) |
T1079K |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,288,594 (GRCm39) |
W342R |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,456,562 (GRCm39) |
S14G |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,117,906 (GRCm39) |
K121N |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,243,497 (GRCm39) |
D171G |
possibly damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,426,904 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,897,018 (GRCm39) |
I746F |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,409,662 (GRCm39) |
S192P |
probably damaging |
Het |
| Exoc8 |
C |
A |
8: 125,623,150 (GRCm39) |
V406L |
probably damaging |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Greb1 |
A |
T |
12: 16,759,441 (GRCm39) |
V652E |
probably benign |
Het |
| Ift88 |
A |
G |
14: 57,744,716 (GRCm39) |
S745G |
probably benign |
Het |
| Il18bp |
T |
C |
7: 101,665,237 (GRCm39) |
|
probably benign |
Het |
| Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,424,198 (GRCm39) |
S6G |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,022,689 (GRCm39) |
Y678C |
probably benign |
Het |
| Msra |
A |
T |
14: 64,360,788 (GRCm39) |
H184Q |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,520,772 (GRCm39) |
|
probably null |
Het |
| Myo3a |
T |
G |
2: 22,467,799 (GRCm39) |
L351R |
probably damaging |
Het |
| Npy5r |
GCTGTGAAACACTG |
GCTG |
8: 67,134,192 (GRCm39) |
|
probably null |
Het |
| Or4d2 |
T |
C |
11: 87,784,478 (GRCm39) |
T91A |
probably benign |
Het |
| Or7d11 |
C |
T |
9: 19,966,342 (GRCm39) |
R139Q |
probably benign |
Het |
| Or7g18 |
A |
G |
9: 18,787,145 (GRCm39) |
D174G |
possibly damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,623,533 (GRCm39) |
I288F |
probably damaging |
Het |
| Pitpna |
T |
G |
11: 75,511,141 (GRCm39) |
V238G |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,879,719 (GRCm39) |
V81E |
possibly damaging |
Het |
| Rab11fip2 |
T |
A |
19: 59,931,288 (GRCm39) |
T49S |
probably damaging |
Het |
| Rsl24d1 |
T |
A |
9: 73,020,792 (GRCm39) |
I3N |
possibly damaging |
Het |
| Rtn1 |
T |
C |
12: 72,266,092 (GRCm39) |
N161S |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 44,001,760 (GRCm39) |
I1151V |
probably benign |
Het |
| Slc34a3 |
A |
G |
2: 25,119,221 (GRCm39) |
S550P |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,253,479 (GRCm39) |
K1423N |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
| Ubqln5 |
T |
A |
7: 103,778,696 (GRCm39) |
S43C |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,830,234 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,641,816 (GRCm39) |
V413D |
probably damaging |
Het |
| Zfp267 |
G |
T |
3: 36,219,004 (GRCm39) |
L341F |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGTCTGGAGCATCCTTCCG -3'
(R):5'- CAGAATGAGGCCTGTGCTTTTG -3'
Sequencing Primer
(F):5'- GTGTCTCGGTACCATGCTGTAC -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation