Incidental Mutation 'IGL02383:Slc44a4'
ID |
291432 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc44a4
|
Ensembl Gene |
ENSMUSG00000007034 |
Gene Name |
solute carrier family 44, member 4 |
Synonyms |
NG22, 2210409B01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02383
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35133442-35149412 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 35146686 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 422
(V422I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000007253]
[ENSMUST00000169230]
|
AlphaFold |
Q91VA1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007249
AA Change: V422I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000007249 Gene: ENSMUSG00000007034 AA Change: V422I
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 benign
Transcript: ENSMUST00000169230
AA Change: V270I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132965 Gene: ENSMUSG00000007034 AA Change: V270I
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173269
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173664
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174715
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
T |
C |
6: 133,269,205 (GRCm39) |
|
probably benign |
Het |
Adap2 |
C |
A |
11: 80,051,015 (GRCm39) |
A115D |
probably damaging |
Het |
Ankrd1 |
A |
G |
19: 36,097,165 (GRCm39) |
V6A |
probably benign |
Het |
Apobr |
T |
A |
7: 126,185,779 (GRCm39) |
V430E |
probably benign |
Het |
Arhgap28 |
A |
G |
17: 68,203,084 (GRCm39) |
V123A |
probably benign |
Het |
Atp2b2 |
A |
G |
6: 113,790,903 (GRCm39) |
V167A |
probably damaging |
Het |
B3galnt2 |
A |
T |
13: 14,171,618 (GRCm39) |
*505C |
probably null |
Het |
Bcat2 |
T |
A |
7: 45,237,431 (GRCm39) |
L305Q |
probably damaging |
Het |
Coa8 |
T |
A |
12: 111,690,847 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
C |
1: 24,224,339 (GRCm39) |
S174P |
unknown |
Het |
Ddx41 |
A |
T |
13: 55,680,170 (GRCm39) |
D418E |
probably benign |
Het |
Defa40 |
A |
G |
8: 21,740,377 (GRCm39) |
D61G |
probably damaging |
Het |
Exoc6 |
T |
C |
19: 37,566,922 (GRCm39) |
F240L |
probably benign |
Het |
Fbln7 |
G |
A |
2: 128,737,477 (GRCm39) |
V431I |
probably benign |
Het |
Gfral |
T |
A |
9: 76,104,374 (GRCm39) |
N213Y |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,706,562 (GRCm39) |
D22G |
probably benign |
Het |
H2-M1 |
G |
A |
17: 36,981,141 (GRCm39) |
T298I |
unknown |
Het |
Haus3 |
A |
T |
5: 34,323,580 (GRCm39) |
Y343* |
probably null |
Het |
Hid1 |
T |
C |
11: 115,243,446 (GRCm39) |
E534G |
probably damaging |
Het |
Il4ra |
T |
C |
7: 125,170,676 (GRCm39) |
V196A |
probably benign |
Het |
Itm2b |
C |
A |
14: 73,600,536 (GRCm39) |
E255* |
probably null |
Het |
Kidins220 |
A |
T |
12: 25,047,332 (GRCm39) |
|
probably benign |
Het |
Klhl22 |
T |
A |
16: 17,594,762 (GRCm39) |
F297Y |
possibly damaging |
Het |
Krt9 |
T |
C |
11: 100,082,041 (GRCm39) |
E253G |
probably damaging |
Het |
Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
Map3k6 |
T |
A |
4: 132,973,932 (GRCm39) |
|
probably null |
Het |
Med29 |
C |
A |
7: 28,086,448 (GRCm39) |
R120L |
possibly damaging |
Het |
Napa |
C |
T |
7: 15,846,503 (GRCm39) |
|
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,961,624 (GRCm39) |
Y351N |
probably benign |
Het |
Nphs1 |
C |
T |
7: 30,181,060 (GRCm39) |
|
probably benign |
Het |
Or5b94 |
A |
G |
19: 12,651,899 (GRCm39) |
D110G |
probably benign |
Het |
Prss16 |
T |
C |
13: 22,193,697 (GRCm39) |
I33V |
probably benign |
Het |
Ripk1 |
A |
G |
13: 34,199,227 (GRCm39) |
Y193C |
probably damaging |
Het |
Rph3a |
C |
T |
5: 121,102,002 (GRCm39) |
R78H |
probably damaging |
Het |
Rrp9 |
T |
A |
9: 106,362,471 (GRCm39) |
I452N |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,737,607 (GRCm39) |
|
probably benign |
Het |
Sec23a |
A |
G |
12: 59,048,813 (GRCm39) |
L103P |
probably damaging |
Het |
Slc17a9 |
A |
C |
2: 180,377,674 (GRCm39) |
D190A |
probably benign |
Het |
Smc5 |
C |
T |
19: 23,191,996 (GRCm39) |
|
probably benign |
Het |
Tax1bp1 |
C |
T |
6: 52,730,351 (GRCm39) |
S611F |
probably benign |
Het |
Tmem38b |
G |
A |
4: 53,854,345 (GRCm39) |
M192I |
probably benign |
Het |
Unc45a |
G |
T |
7: 79,989,410 (GRCm39) |
C34* |
probably null |
Het |
Usp46 |
T |
A |
5: 74,190,014 (GRCm39) |
M6L |
probably benign |
Het |
Uspl1 |
G |
A |
5: 149,150,212 (GRCm39) |
V471M |
probably damaging |
Het |
Vmn1r35 |
T |
A |
6: 66,655,875 (GRCm39) |
Q265L |
probably damaging |
Het |
Vmn1r35 |
G |
T |
6: 66,655,876 (GRCm39) |
Q265K |
probably damaging |
Het |
Vmn1r50 |
A |
G |
6: 90,084,461 (GRCm39) |
I69V |
possibly damaging |
Het |
Vps33b |
A |
G |
7: 79,935,082 (GRCm39) |
|
probably null |
Het |
Xntrpc |
A |
C |
7: 101,742,802 (GRCm39) |
D604A |
probably damaging |
Het |
Yeats4 |
T |
A |
10: 117,051,716 (GRCm39) |
R180S |
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 |
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 |
R6947:Slc44a4
|
UTSW |
17 |
35,147,044 (GRCm39) |
missense |
probably null |
1.00 |
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 |
|
|
Posted On |
2015-04-16 |