Incidental Mutation 'R3787:Slc4a1ap'
| ID |
272299 |
| 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 |
040754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.755)
|
| Stock # |
R3787 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31684339-31714276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31685483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 254
(L254I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065388]
[ENSMUST00000114533]
[ENSMUST00000200721]
[ENSMUST00000201858]
[ENSMUST00000202214]
[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: L254I
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141
AA Change: L254I
| 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: L254I
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112619
Gene: ENSMUSG00000029141
AA Change: L254I
| 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: ENSMUST00000201858
AA Change: L254I
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143960
Gene: ENSMUSG00000029141
AA Change: L254I
| 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 |
noncoding transcript
Transcript: ENSMUST00000202016
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202214
AA Change: L254I
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141
AA Change: L254I
| 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: ENSMUST00000202950
AA Change: L254I
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141
AA Change: L254I
| 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: 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
T |
5: 139,441,197 (GRCm39) |
P35Q |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
| Aprt |
T |
C |
8: 123,302,268 (GRCm39) |
D65G |
probably benign |
Het |
| Auh |
C |
A |
13: 53,083,493 (GRCm39) |
R62L |
possibly damaging |
Het |
| Bmp4 |
C |
T |
14: 46,623,171 (GRCm39) |
|
probably null |
Het |
| Bptf |
C |
A |
11: 106,964,653 (GRCm39) |
D1514Y |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,734,433 (GRCm39) |
F418S |
probably damaging |
Het |
| Ccdc112 |
C |
T |
18: 46,432,365 (GRCm39) |
R72H |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,374,092 (GRCm39) |
Y371H |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,542,070 (GRCm39) |
Y403H |
probably damaging |
Het |
| Cul4a |
T |
C |
8: 13,183,668 (GRCm39) |
V352A |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,277,162 (GRCm39) |
D2893G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,974,015 (GRCm39) |
D2800G |
probably damaging |
Het |
| Dnaja2 |
C |
T |
8: 86,267,015 (GRCm39) |
G281R |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,727,035 (GRCm39) |
T449A |
probably benign |
Het |
| Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,657,583 (GRCm39) |
S519R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,258,819 (GRCm39) |
Y655C |
probably benign |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,492,076 (GRCm39) |
V415A |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,302,012 (GRCm39) |
N1007K |
possibly damaging |
Het |
| Mpped1 |
A |
T |
15: 83,680,784 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,380,670 (GRCm39) |
V116A |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Nfs1 |
A |
G |
2: 155,970,503 (GRCm39) |
I270T |
possibly damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,041,994 (GRCm39) |
D26G |
probably damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Or13a28 |
G |
A |
7: 140,217,748 (GRCm39) |
V45I |
probably benign |
Het |
| Or8g32 |
T |
C |
9: 39,305,678 (GRCm39) |
V197A |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,622,868 (GRCm39) |
P1447Q |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,326,242 (GRCm39) |
T59A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppp1r12c |
G |
A |
7: 4,489,583 (GRCm39) |
A193V |
probably damaging |
Het |
| Pramel48 |
T |
A |
5: 95,630,756 (GRCm39) |
L211Q |
probably damaging |
Het |
| Prdm15 |
G |
T |
16: 97,598,945 (GRCm39) |
H904Q |
probably benign |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Reep1 |
T |
A |
6: 71,772,199 (GRCm39) |
D162E |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,722,206 (GRCm39) |
L2528Q |
probably damaging |
Het |
| Rfc1 |
A |
T |
5: 65,453,357 (GRCm39) |
S264T |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,149,944 (GRCm39) |
A1602T |
probably benign |
Het |
| Sipa1l2 |
C |
A |
8: 126,177,122 (GRCm39) |
C1164F |
possibly damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,874,816 (GRCm39) |
N291S |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,805,141 (GRCm39) |
D279V |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,048 (GRCm39) |
T203I |
possibly damaging |
Het |
| Txnl4b |
C |
T |
8: 110,299,409 (GRCm39) |
A123V |
probably damaging |
Het |
| Vmn1r63 |
T |
A |
7: 5,805,751 (GRCm39) |
M294L |
probably benign |
Het |
| Vmn2r58 |
C |
T |
7: 41,513,498 (GRCm39) |
D382N |
probably benign |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTCTGGTAACCAATGACAAAAGC -3'
(R):5'- TCAGCTGTAGGCCTTCTGAG -3'
Sequencing Primer
(F):5'- AAGCACAGGCCTCATTCTGG -3'
(R):5'- GGCCTTCTGAGCTGTATGATCAAAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation