Incidental Mutation 'R6770:Slc4a1ap'
| ID |
532120 |
| 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 |
044886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.755)
|
| Stock # |
R6770 (G1)
|
| Quality Score |
195.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31684339-31714276 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 31685226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000114533
|
| SMART Domains |
Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141
| 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 null
Transcript: ENSMUST00000201858
|
| SMART Domains |
Protein: ENSMUSP00000143960
Gene: ENSMUSG00000029141
| 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 null
Transcript: ENSMUST00000202214
|
| SMART Domains |
Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141
| 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 null
Transcript: ENSMUST00000202950
|
| SMART Domains |
Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adk |
A |
G |
14: 21,284,982 (GRCm39) |
K102E |
probably damaging |
Het |
| Bach2 |
G |
A |
4: 32,575,240 (GRCm39) |
V489I |
possibly damaging |
Het |
| Bin1 |
A |
G |
18: 32,539,202 (GRCm39) |
E45G |
probably damaging |
Het |
| Btnl4 |
A |
G |
17: 34,693,011 (GRCm39) |
Y135H |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,066,392 (GRCm39) |
|
probably null |
Het |
| Cdh10 |
A |
G |
15: 18,985,308 (GRCm39) |
D324G |
probably benign |
Het |
| Cfi |
T |
C |
3: 129,652,379 (GRCm39) |
S269P |
probably benign |
Het |
| Ctbp1 |
G |
A |
5: 33,408,204 (GRCm39) |
Q243* |
probably null |
Het |
| Dnajc1 |
G |
T |
2: 18,222,082 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxo39 |
T |
G |
11: 72,208,622 (GRCm39) |
S325A |
possibly damaging |
Het |
| Gbe1 |
T |
C |
16: 70,198,726 (GRCm39) |
S140P |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,111,153 (GRCm39) |
L38Q |
possibly damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,967 (GRCm39) |
S551G |
possibly damaging |
Het |
| Ina |
C |
T |
19: 47,003,366 (GRCm39) |
|
probably benign |
Het |
| Irs3 |
A |
G |
5: 137,643,475 (GRCm39) |
V103A |
possibly damaging |
Het |
| Ldb2 |
T |
A |
5: 44,826,738 (GRCm39) |
T66S |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,327,648 (GRCm39) |
A1499V |
probably benign |
Het |
| Nde1 |
G |
A |
16: 14,006,242 (GRCm39) |
V96I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,370,969 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
G |
T |
17: 90,344,607 (GRCm39) |
N435K |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,934,862 (GRCm39) |
D5256G |
possibly damaging |
Het |
| Or1e25 |
A |
G |
11: 73,493,804 (GRCm39) |
T133A |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,448,206 (GRCm39) |
V110A |
probably benign |
Het |
| Or52n20 |
T |
A |
7: 104,320,725 (GRCm39) |
I272N |
probably damaging |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,479 (GRCm39) |
F153L |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,744,837 (GRCm39) |
M865K |
probably benign |
Het |
| Otud1 |
A |
G |
2: 19,663,993 (GRCm39) |
E374G |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,764,568 (GRCm39) |
L542H |
probably damaging |
Het |
| Plekhg5 |
A |
G |
4: 152,187,536 (GRCm39) |
T101A |
probably benign |
Het |
| Ppic |
A |
T |
18: 53,544,657 (GRCm39) |
V51E |
probably benign |
Het |
| Ptpn14 |
G |
A |
1: 189,564,970 (GRCm39) |
V186M |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,753,348 (GRCm39) |
T1658S |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,559,528 (GRCm39) |
|
probably null |
Het |
| Siva1 |
G |
A |
12: 112,614,358 (GRCm39) |
C73Y |
probably damaging |
Het |
| Sltm |
A |
G |
9: 70,492,059 (GRCm39) |
I683V |
unknown |
Het |
| Srgap2 |
A |
T |
1: 131,226,248 (GRCm39) |
C22S |
probably benign |
Het |
| Stxbp1 |
C |
T |
2: 32,709,901 (GRCm39) |
R64H |
probably benign |
Het |
| Suv39h2 |
T |
C |
2: 3,473,588 (GRCm39) |
N114S |
possibly damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,345 (GRCm39) |
I261V |
probably benign |
Het |
| Trav14-2 |
A |
C |
14: 53,878,629 (GRCm39) |
H76P |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,434,006 (GRCm39) |
S2316P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,216,493 (GRCm39) |
I5141T |
unknown |
Het |
| Usp46 |
A |
G |
5: 74,193,015 (GRCm39) |
V87A |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,508,445 (GRCm39) |
N612S |
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 |
|
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'- TAATGCGCTTTGGAGGCAG -3'
(R):5'- CTCTGGTCCCTAATGAATCATGG -3'
Sequencing Primer
(F):5'- TTTGGAGGCAGCACTCG -3'
(R):5'- GAATGAGGCCTGTGCTTT -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation