Incidental Mutation 'R5648:Slc4a1ap'
| ID |
441263 |
| 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 |
043169-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.743)
|
| Stock # |
R5648 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31684339-31714276 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 31708129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114533]
[ENSMUST00000202214]
[ENSMUST00000202214]
[ENSMUST00000202950]
[ENSMUST00000202950]
|
| AlphaFold |
E9PX68 |
| 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 null
Transcript: ENSMUST00000117262
|
| SMART Domains |
Protein: ENSMUSP00000112619
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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201789
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201789
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201925
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201925
|
| 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 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 null
Transcript: ENSMUST00000202273
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202299
|
| 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 |
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202575
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,326,510 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
A |
G |
18: 65,482,988 (GRCm39) |
V340A |
probably damaging |
Het |
| Cald1 |
G |
T |
6: 34,739,267 (GRCm39) |
|
probably null |
Het |
| Col24a1 |
C |
T |
3: 145,064,321 (GRCm39) |
T702I |
probably benign |
Het |
| Ddx50 |
T |
C |
10: 62,452,049 (GRCm39) |
R725G |
unknown |
Het |
| Dnah9 |
A |
T |
11: 65,818,581 (GRCm39) |
F68L |
probably benign |
Het |
| Dnmt3b |
G |
A |
2: 153,519,118 (GRCm39) |
V651M |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,348,683 (GRCm39) |
C299Y |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,375,162 (GRCm39) |
I562V |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,068,641 (GRCm39) |
V223D |
probably damaging |
Het |
| Ggt6 |
T |
C |
11: 72,326,542 (GRCm39) |
I33T |
possibly damaging |
Het |
| Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
| Gm9847 |
A |
G |
12: 14,545,130 (GRCm39) |
|
noncoding transcript |
Het |
| Gnao1 |
A |
T |
8: 94,676,070 (GRCm39) |
Y116F |
probably damaging |
Het |
| Gvin1 |
A |
T |
7: 105,762,606 (GRCm39) |
I621K |
possibly damaging |
Het |
| Hyal6 |
T |
C |
6: 24,734,235 (GRCm39) |
M56T |
possibly damaging |
Het |
| Hyou1 |
T |
A |
9: 44,296,546 (GRCm39) |
D490E |
probably damaging |
Het |
| Igsf10 |
G |
C |
3: 59,235,574 (GRCm39) |
Q1536E |
probably benign |
Het |
| Klk1b8 |
T |
C |
7: 43,448,068 (GRCm39) |
S31P |
possibly damaging |
Het |
| Map3k6 |
A |
C |
4: 132,970,646 (GRCm39) |
I178L |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,528,778 (GRCm39) |
N427Y |
probably damaging |
Het |
| Ncr1 |
T |
A |
7: 4,347,519 (GRCm39) |
I228N |
probably damaging |
Het |
| Nefh |
A |
T |
11: 4,895,233 (GRCm39) |
Y319N |
probably damaging |
Het |
| Or4a80 |
A |
C |
2: 89,582,417 (GRCm39) |
C252G |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,854,848 (GRCm39) |
V120A |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,628,850 (GRCm39) |
Y699F |
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,767,362 (GRCm39) |
L250P |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,203,570 (GRCm39) |
V1228A |
probably benign |
Het |
| Rhobtb2 |
G |
T |
14: 70,034,593 (GRCm39) |
R211S |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,403,697 (GRCm39) |
I305V |
possibly damaging |
Het |
| Slc12a2 |
G |
A |
18: 58,029,382 (GRCm39) |
G256E |
possibly damaging |
Het |
| Thoc1 |
A |
G |
18: 9,962,390 (GRCm39) |
T92A |
possibly damaging |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
T |
G |
15: 94,992,653 (GRCm39) |
S438A |
possibly damaging |
Het |
| Ttll7 |
A |
G |
3: 146,667,465 (GRCm39) |
N777S |
probably damaging |
Het |
| Ubd |
T |
A |
17: 37,506,345 (GRCm39) |
V77E |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,790,117 (GRCm39) |
S658P |
probably damaging |
Het |
| Vmn1r78 |
G |
A |
7: 11,886,693 (GRCm39) |
M101I |
possibly damaging |
Het |
| Wdr93 |
T |
C |
7: 79,426,974 (GRCm39) |
C638R |
probably benign |
Het |
| Zfp983 |
T |
A |
17: 21,877,947 (GRCm39) |
V50D |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,623,881 (GRCm39) |
H95Q |
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 |
|
|
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'- GATGATCACAAGTCCCCAAGG -3'
(R):5'- ACAGGATGCACCAATTCTACTC -3'
Sequencing Primer
(F):5'- GGTACCTTGAGCTACTTAGTGACAC -3'
(R):5'- CAGAGGACTTGAGTTCAGTACCC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation