Incidental Mutation 'IGL01759:Slc44a4'
| ID |
153492 |
| 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 # |
IGL01759
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35133442-35149412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35140219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 208
(D208G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000169230]
|
| AlphaFold |
Q91VA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007249
AA Change: D208G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: D208G
| 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: ENSMUST00000169230
AA Change: D56G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: D56G
| 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: ENSMUST00000173664
|
| Meta Mutation Damage Score |
0.0767 |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
A |
T |
11: 95,726,625 (GRCm39) |
D150E |
probably damaging |
Het |
| Akr1c14 |
T |
A |
13: 4,131,139 (GRCm39) |
I277N |
probably damaging |
Het |
| Ap1b1 |
C |
T |
11: 4,969,433 (GRCm39) |
T263I |
probably damaging |
Het |
| Atp6v0d2 |
C |
A |
4: 19,878,335 (GRCm39) |
V313L |
probably damaging |
Het |
| Car2 |
G |
A |
3: 14,960,688 (GRCm39) |
|
probably null |
Het |
| Cdh17 |
T |
A |
4: 11,771,262 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,234,855 (GRCm39) |
|
probably null |
Het |
| Cep97 |
T |
C |
16: 55,750,936 (GRCm39) |
K27E |
probably damaging |
Het |
| Cops5 |
A |
T |
1: 10,097,474 (GRCm39) |
N258K |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,404,509 (GRCm39) |
T2678S |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,832,850 (GRCm39) |
F861Y |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,503,990 (GRCm39) |
E1777G |
probably damaging |
Het |
| Dock5 |
G |
A |
14: 68,118,708 (GRCm39) |
Q23* |
probably null |
Het |
| Ermp1 |
T |
C |
19: 29,593,236 (GRCm39) |
K752R |
probably benign |
Het |
| Fhip1a |
A |
C |
3: 85,595,754 (GRCm39) |
I377S |
probably damaging |
Het |
| Gjd2 |
T |
A |
2: 113,841,587 (GRCm39) |
I297L |
probably benign |
Het |
| Gm1123 |
T |
C |
9: 98,905,307 (GRCm39) |
M68V |
probably benign |
Het |
| Gm28372 |
C |
T |
2: 130,248,818 (GRCm39) |
R59W |
probably damaging |
Het |
| Gm9912 |
A |
C |
3: 148,891,074 (GRCm39) |
F20V |
unknown |
Het |
| Gpat2 |
T |
C |
2: 127,272,816 (GRCm39) |
F176S |
possibly damaging |
Het |
| Gpr150 |
T |
C |
13: 76,203,784 (GRCm39) |
H387R |
possibly damaging |
Het |
| Gpr20 |
T |
A |
15: 73,568,269 (GRCm39) |
D40V |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Jakmip3 |
A |
T |
7: 138,622,633 (GRCm39) |
Q331L |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,225,647 (GRCm39) |
V179A |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,211,019 (GRCm39) |
|
probably benign |
Het |
| Krt14 |
A |
T |
11: 100,095,242 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
A |
G |
10: 26,207,798 (GRCm39) |
F307S |
unknown |
Het |
| Laptm4a |
T |
C |
12: 8,984,687 (GRCm39) |
|
probably benign |
Het |
| Marveld3 |
T |
C |
8: 110,674,719 (GRCm39) |
S366G |
possibly damaging |
Het |
| Mga |
C |
A |
2: 119,781,676 (GRCm39) |
T2234K |
possibly damaging |
Het |
| Mkrn2os |
T |
C |
6: 115,569,292 (GRCm39) |
N54S |
probably benign |
Het |
| Mras |
T |
C |
9: 99,293,548 (GRCm39) |
I31V |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,110,732 (GRCm39) |
D1518G |
probably damaging |
Het |
| Myoz2 |
A |
T |
3: 122,807,430 (GRCm39) |
Y127N |
possibly damaging |
Het |
| Nhlrc1 |
C |
A |
13: 47,167,438 (GRCm39) |
W273L |
probably benign |
Het |
| Nol9 |
C |
T |
4: 152,130,500 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
C |
19: 6,559,959 (GRCm39) |
V1206A |
probably damaging |
Het |
| Or2ag1b |
T |
C |
7: 106,288,540 (GRCm39) |
T133A |
probably benign |
Het |
| Or5k16 |
A |
T |
16: 58,736,291 (GRCm39) |
F238I |
probably damaging |
Het |
| Or6c5 |
T |
A |
10: 129,074,941 (GRCm39) |
F308I |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,447 (GRCm39) |
I138T |
probably benign |
Het |
| Or8g2b |
T |
A |
9: 39,750,907 (GRCm39) |
M59K |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,123,395 (GRCm39) |
|
probably null |
Het |
| Pfkl |
A |
G |
10: 77,836,565 (GRCm39) |
S151P |
probably damaging |
Het |
| Pgbd5 |
C |
T |
8: 125,111,118 (GRCm39) |
G191D |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,512 (GRCm39) |
V1276A |
probably benign |
Het |
| Pla2g4c |
T |
A |
7: 13,082,241 (GRCm39) |
Y486N |
probably damaging |
Het |
| Rasal2 |
C |
A |
1: 157,003,502 (GRCm39) |
V386L |
probably benign |
Het |
| S1pr3 |
G |
A |
13: 51,573,548 (GRCm39) |
R243Q |
probably damaging |
Het |
| Slc6a4 |
T |
C |
11: 76,904,114 (GRCm39) |
S190P |
probably damaging |
Het |
| Snapc5 |
A |
T |
9: 64,087,779 (GRCm39) |
|
probably null |
Het |
| Tbc1d14 |
C |
A |
5: 36,728,913 (GRCm39) |
R151L |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,897,826 (GRCm39) |
|
probably benign |
Het |
| Tmem219 |
G |
A |
7: 126,496,310 (GRCm39) |
P44L |
probably damaging |
Het |
| Ube2e1 |
T |
C |
14: 18,330,951 (GRCm38) |
R51G |
probably null |
Het |
| Ugp2 |
T |
C |
11: 21,303,447 (GRCm39) |
K53E |
probably benign |
Het |
| Vmn1r214 |
T |
C |
13: 23,218,662 (GRCm39) |
I52T |
probably benign |
Het |
| Vmn2r124 |
C |
T |
17: 18,284,330 (GRCm39) |
T457I |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,878,935 (GRCm39) |
E2978G |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,159,741 (GRCm39) |
D679G |
probably damaging |
Het |
| Zhx3 |
T |
C |
2: 160,622,634 (GRCm39) |
N511S |
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 |
|
IGL01606:Slc44a4
|
APN |
17 |
35,147,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation