Incidental Mutation 'R6947:Slc44a4'
ID |
540952 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc44a4
|
Ensembl Gene |
ENSMUSG00000007034 |
Gene Name |
solute carrier family 44, member 4 |
Synonyms |
NG22, 2210409B01Rik |
MMRRC Submission |
045060-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6947 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
35133442-35149412 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35147044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 358
(Q358L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000007253]
[ENSMUST00000169230]
|
AlphaFold |
Q91VA1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000007249
AA Change: Q510L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000007249 Gene: ENSMUSG00000007034 AA Change: Q510L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
low complexity region
|
93 |
102 |
N/A |
INTRINSIC |
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
Pfam:Choline_transpo
|
311 |
674 |
5.4e-119 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000007253
|
SMART Domains |
Protein: ENSMUSP00000007253 Gene: ENSMUSG00000007038
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
Pfam:BNR_3
|
74 |
249 |
1e-16 |
PFAM |
Pfam:BNR_2
|
82 |
377 |
1.8e-52 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000169230
AA Change: Q358L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132965 Gene: ENSMUSG00000007034 AA Change: Q358L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
Pfam:Choline_transpo
|
157 |
524 |
3.9e-129 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.0%
|
Validation Efficiency |
100% (46/46) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
C |
A |
9: 90,073,857 (GRCm39) |
|
probably null |
Het |
Adcy4 |
T |
C |
14: 56,015,848 (GRCm39) |
T414A |
possibly damaging |
Het |
Bop1 |
A |
G |
15: 76,338,188 (GRCm39) |
F561L |
probably damaging |
Het |
Ccdc18 |
T |
C |
5: 108,309,401 (GRCm39) |
V332A |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,365,918 (GRCm39) |
T1042A |
probably damaging |
Het |
Cnot8 |
G |
T |
11: 58,008,331 (GRCm39) |
V266L |
probably benign |
Het |
Cxxc4 |
C |
T |
3: 133,946,277 (GRCm39) |
S286F |
possibly damaging |
Het |
Cyp2d12 |
A |
T |
15: 82,443,248 (GRCm39) |
I386L |
probably benign |
Het |
Dgka |
A |
T |
10: 128,568,884 (GRCm39) |
I227N |
probably damaging |
Het |
Eif2d |
T |
C |
1: 131,092,404 (GRCm39) |
V354A |
probably benign |
Het |
Fgr |
T |
A |
4: 132,722,380 (GRCm39) |
|
probably null |
Het |
Idnk |
A |
G |
13: 58,308,055 (GRCm39) |
|
probably null |
Het |
Kmt2e |
T |
C |
5: 23,702,543 (GRCm39) |
S952P |
probably damaging |
Het |
Kng1 |
A |
G |
16: 22,896,124 (GRCm39) |
H343R |
probably benign |
Het |
Lgals8 |
G |
A |
13: 12,469,682 (GRCm39) |
|
probably benign |
Het |
Lrit3 |
T |
A |
3: 129,582,883 (GRCm39) |
Q368L |
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,273,592 (GRCm39) |
T24S |
probably benign |
Het |
Map3k4 |
G |
A |
17: 12,479,456 (GRCm39) |
Q704* |
probably null |
Het |
Mcm3ap |
A |
G |
10: 76,351,500 (GRCm39) |
I1948V |
probably benign |
Het |
Mettl25 |
A |
G |
10: 105,662,053 (GRCm39) |
F306L |
probably benign |
Het |
Mos |
A |
C |
4: 3,871,585 (GRCm39) |
V77G |
probably damaging |
Het |
Muc4 |
C |
T |
16: 32,596,177 (GRCm39) |
R3130C |
possibly damaging |
Het |
Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
Or1p4-ps1 |
C |
T |
11: 74,208,370 (GRCm39) |
S173L |
unknown |
Het |
Or5m10b |
T |
C |
2: 85,699,271 (GRCm39) |
F112L |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,577,021 (GRCm39) |
|
probably null |
Het |
Pde10a |
T |
A |
17: 9,188,424 (GRCm39) |
I908N |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,228,075 (GRCm39) |
K1058R |
probably benign |
Het |
Rad17 |
A |
T |
13: 100,759,383 (GRCm39) |
F548Y |
probably damaging |
Het |
Rad54b |
T |
G |
4: 11,569,859 (GRCm39) |
S58R |
possibly damaging |
Het |
Rbm20 |
G |
A |
19: 53,839,696 (GRCm39) |
G895D |
probably damaging |
Het |
Rgs22 |
T |
C |
15: 36,104,036 (GRCm39) |
|
probably null |
Het |
Rhobtb3 |
A |
G |
13: 76,058,785 (GRCm39) |
S338P |
probably benign |
Het |
Ruvbl2 |
A |
G |
7: 45,074,373 (GRCm39) |
|
probably null |
Het |
Slc16a12 |
A |
G |
19: 34,650,007 (GRCm39) |
F343L |
probably benign |
Het |
Slc22a28 |
A |
G |
19: 8,041,875 (GRCm39) |
L444P |
possibly damaging |
Het |
Sowaha |
A |
G |
11: 53,369,225 (GRCm39) |
F504L |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,125,789 (GRCm39) |
L6035P |
probably damaging |
Het |
Thbs2 |
A |
T |
17: 14,910,029 (GRCm39) |
M190K |
possibly damaging |
Het |
Tmem171 |
A |
G |
13: 98,824,950 (GRCm39) |
F227L |
possibly damaging |
Het |
Trp53 |
A |
G |
11: 69,479,307 (GRCm39) |
K162E |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,724,732 (GRCm39) |
K2098* |
probably null |
Het |
Usp30 |
T |
C |
5: 114,241,821 (GRCm39) |
S88P |
probably benign |
Het |
Zfp276 |
C |
A |
8: 123,981,643 (GRCm39) |
D63E |
probably benign |
Het |
|
Other mutations in Slc44a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00087:Slc44a4
|
APN |
17 |
35,149,216 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01097:Slc44a4
|
APN |
17 |
35,140,545 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01296:Slc44a4
|
APN |
17 |
35,140,674 (GRCm39) |
missense |
probably benign |
0.39 |
IGL01606:Slc44a4
|
APN |
17 |
35,147,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01759:Slc44a4
|
APN |
17 |
35,140,219 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02026:Slc44a4
|
APN |
17 |
35,140,832 (GRCm39) |
splice site |
probably benign |
|
IGL02119:Slc44a4
|
APN |
17 |
35,147,637 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02338:Slc44a4
|
APN |
17 |
35,142,786 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02383:Slc44a4
|
APN |
17 |
35,146,686 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02526:Slc44a4
|
APN |
17 |
35,147,463 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02744:Slc44a4
|
APN |
17 |
35,146,776 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02754:Slc44a4
|
APN |
17 |
35,140,279 (GRCm39) |
missense |
probably damaging |
0.98 |
ANU74:Slc44a4
|
UTSW |
17 |
35,140,554 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4142001:Slc44a4
|
UTSW |
17 |
35,140,251 (GRCm39) |
missense |
probably damaging |
0.99 |
R0007:Slc44a4
|
UTSW |
17 |
35,140,230 (GRCm39) |
missense |
probably damaging |
0.99 |
R0007:Slc44a4
|
UTSW |
17 |
35,140,230 (GRCm39) |
missense |
probably damaging |
0.99 |
R0452:Slc44a4
|
UTSW |
17 |
35,147,071 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0894:Slc44a4
|
UTSW |
17 |
35,147,466 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1136:Slc44a4
|
UTSW |
17 |
35,146,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R1224:Slc44a4
|
UTSW |
17 |
35,140,844 (GRCm39) |
missense |
probably benign |
0.18 |
R1779:Slc44a4
|
UTSW |
17 |
35,140,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R2679:Slc44a4
|
UTSW |
17 |
35,142,399 (GRCm39) |
splice site |
probably benign |
|
R3499:Slc44a4
|
UTSW |
17 |
35,140,656 (GRCm39) |
missense |
probably benign |
0.02 |
R3732:Slc44a4
|
UTSW |
17 |
35,140,537 (GRCm39) |
synonymous |
silent |
|
R4084:Slc44a4
|
UTSW |
17 |
35,136,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R4197:Slc44a4
|
UTSW |
17 |
35,137,228 (GRCm39) |
missense |
probably benign |
0.12 |
R4536:Slc44a4
|
UTSW |
17 |
35,142,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R4547:Slc44a4
|
UTSW |
17 |
35,146,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R5093:Slc44a4
|
UTSW |
17 |
35,140,219 (GRCm39) |
missense |
probably benign |
0.00 |
R6005:Slc44a4
|
UTSW |
17 |
35,142,430 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6396:Slc44a4
|
UTSW |
17 |
35,147,860 (GRCm39) |
nonsense |
probably null |
|
R6660:Slc44a4
|
UTSW |
17 |
35,149,201 (GRCm39) |
missense |
probably damaging |
0.99 |
R6860:Slc44a4
|
UTSW |
17 |
35,140,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R6863:Slc44a4
|
UTSW |
17 |
35,142,798 (GRCm39) |
missense |
probably benign |
0.41 |
R7250:Slc44a4
|
UTSW |
17 |
35,137,520 (GRCm39) |
critical splice donor site |
probably null |
|
R7297:Slc44a4
|
UTSW |
17 |
35,146,888 (GRCm39) |
missense |
probably damaging |
0.98 |
R7425:Slc44a4
|
UTSW |
17 |
35,140,667 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7696:Slc44a4
|
UTSW |
17 |
35,147,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R7871:Slc44a4
|
UTSW |
17 |
35,142,828 (GRCm39) |
critical splice donor site |
probably null |
|
R8244:Slc44a4
|
UTSW |
17 |
35,140,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R8331:Slc44a4
|
UTSW |
17 |
35,140,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R8681:Slc44a4
|
UTSW |
17 |
35,147,253 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8929:Slc44a4
|
UTSW |
17 |
35,136,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R8973:Slc44a4
|
UTSW |
17 |
35,140,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R9345:Slc44a4
|
UTSW |
17 |
35,140,219 (GRCm39) |
missense |
probably benign |
0.03 |
R9610:Slc44a4
|
UTSW |
17 |
35,147,793 (GRCm39) |
missense |
probably benign |
0.18 |
R9611:Slc44a4
|
UTSW |
17 |
35,147,793 (GRCm39) |
missense |
probably benign |
0.18 |
R9729:Slc44a4
|
UTSW |
17 |
35,140,670 (GRCm39) |
missense |
probably benign |
0.01 |
R9755:Slc44a4
|
UTSW |
17 |
35,136,331 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TACTGGGCCTTTCACAAGCC -3'
(R):5'- GCAACACTTGAAGCAGCAG -3'
Sequencing Primer
(F):5'- GCCTTTCACAAGCCTCGAG -3'
(R):5'- CACTTGAAGCAGCAGATGATG -3'
|
Posted On |
2018-11-28 |