Incidental Mutation 'IGL01606:Slc44a4'
ID |
93411 |
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 # |
IGL01606
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35133442-35149412 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35147994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 653
(F653L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000007253]
[ENSMUST00000169230]
|
AlphaFold |
Q91VA1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000007249
AA Change: F653L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000007249 Gene: ENSMUSG00000007034 AA Change: F653L
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 damaging
Transcript: ENSMUST00000169230
AA Change: F501L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132965 Gene: ENSMUSG00000007034 AA Change: F501L
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
A |
G |
17: 15,164,125 (GRCm39) |
D84G |
probably damaging |
Het |
Adat3 |
A |
T |
10: 80,443,172 (GRCm39) |
I337F |
probably damaging |
Het |
Carmil3 |
T |
A |
14: 55,731,306 (GRCm39) |
N128K |
possibly damaging |
Het |
Ceacam2 |
T |
C |
7: 25,230,132 (GRCm39) |
E158G |
possibly damaging |
Het |
Cel |
T |
C |
2: 28,450,576 (GRCm39) |
I150V |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,445,432 (GRCm39) |
H441R |
probably damaging |
Het |
Clic5 |
G |
T |
17: 44,559,633 (GRCm39) |
R109L |
probably benign |
Het |
Cpd |
T |
C |
11: 76,703,466 (GRCm39) |
M466V |
probably benign |
Het |
Cyp39a1 |
T |
A |
17: 44,057,509 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
C |
A |
12: 117,946,767 (GRCm39) |
A3106S |
probably benign |
Het |
Fasn |
A |
C |
11: 120,699,849 (GRCm39) |
|
probably null |
Het |
Fat1 |
G |
A |
8: 45,476,086 (GRCm39) |
V1688I |
probably benign |
Het |
Fibcd1 |
A |
G |
2: 31,723,865 (GRCm39) |
I258T |
probably benign |
Het |
Frem2 |
C |
A |
3: 53,561,012 (GRCm39) |
R1165I |
possibly damaging |
Het |
Gm5627 |
C |
T |
9: 102,626,685 (GRCm39) |
|
noncoding transcript |
Het |
Gm5862 |
T |
A |
5: 26,224,514 (GRCm39) |
T152S |
probably benign |
Het |
Gnb3 |
T |
A |
6: 124,814,218 (GRCm39) |
D154V |
probably damaging |
Het |
Ighv1-14 |
T |
C |
12: 114,610,457 (GRCm39) |
|
noncoding transcript |
Het |
Klrb1 |
C |
A |
6: 128,699,968 (GRCm39) |
E14D |
probably benign |
Het |
Osbpl1a |
A |
T |
18: 12,889,271 (GRCm39) |
D556E |
possibly damaging |
Het |
Pkd1 |
T |
C |
17: 24,795,497 (GRCm39) |
V2330A |
probably damaging |
Het |
Pkdrej |
T |
C |
15: 85,701,901 (GRCm39) |
K1345R |
possibly damaging |
Het |
Plxna4 |
A |
G |
6: 32,134,936 (GRCm39) |
F1756L |
probably damaging |
Het |
Psg28 |
A |
C |
7: 18,164,296 (GRCm39) |
S139A |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,535,792 (GRCm39) |
I395N |
possibly damaging |
Het |
Reps1 |
A |
G |
10: 17,983,435 (GRCm39) |
E426G |
probably damaging |
Het |
Rtp4 |
T |
A |
16: 23,432,004 (GRCm39) |
S179T |
probably benign |
Het |
Sh3pxd2a |
C |
A |
19: 47,257,035 (GRCm39) |
R561L |
probably benign |
Het |
Slc29a2 |
T |
A |
19: 5,077,467 (GRCm39) |
L215Q |
possibly damaging |
Het |
Sulf1 |
G |
T |
1: 12,906,428 (GRCm39) |
R490L |
possibly damaging |
Het |
Ttll4 |
T |
C |
1: 74,725,052 (GRCm39) |
L602P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,607,134 (GRCm39) |
V17963A |
probably damaging |
Het |
Urb1 |
A |
G |
16: 90,557,347 (GRCm39) |
S1760P |
probably damaging |
Het |
Zmynd11 |
G |
A |
13: 9,747,724 (GRCm39) |
R149W |
probably damaging |
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 |
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 |
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 |
2013-12-09 |