Incidental Mutation 'IGL02338:Slc44a4'
| ID |
288921 |
| 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 # |
IGL02338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35133442-35149412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35142786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 396
(G396V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000169230]
|
| AlphaFold |
Q91VA1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007249
AA Change: G396V
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: G396V
| 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 |
possibly damaging
Transcript: ENSMUST00000169230
AA Change: G244V
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: G244V
| 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
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
G |
A |
4: 132,789,860 (GRCm39) |
C367Y |
possibly damaging |
Het |
| AI182371 |
T |
A |
2: 34,975,728 (GRCm39) |
I279L |
probably benign |
Het |
| Ambp |
A |
T |
4: 63,061,934 (GRCm39) |
C332S |
probably damaging |
Het |
| App |
T |
C |
16: 84,970,407 (GRCm39) |
T14A |
probably benign |
Het |
| Asap1 |
A |
T |
15: 63,995,519 (GRCm39) |
|
probably null |
Het |
| Aurka |
T |
C |
2: 172,201,778 (GRCm39) |
R242G |
probably benign |
Het |
| BC034090 |
G |
A |
1: 155,093,217 (GRCm39) |
P747L |
probably damaging |
Het |
| Bcl6b |
T |
C |
11: 70,119,918 (GRCm39) |
D23G |
probably damaging |
Het |
| Cabp2 |
A |
C |
19: 4,134,154 (GRCm39) |
E42A |
possibly damaging |
Het |
| Ccdc14 |
G |
A |
16: 34,542,173 (GRCm39) |
S557N |
probably benign |
Het |
| Ccdc146 |
G |
T |
5: 21,524,604 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,412,615 (GRCm39) |
Q216L |
probably damaging |
Het |
| Ces1b |
G |
A |
8: 93,783,675 (GRCm39) |
P515L |
possibly damaging |
Het |
| Col6a5 |
A |
T |
9: 105,755,829 (GRCm39) |
N2198K |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,288,859 (GRCm39) |
S1133G |
possibly damaging |
Het |
| Cspg5 |
G |
A |
9: 110,085,335 (GRCm39) |
R502H |
probably benign |
Het |
| Cyp2g1 |
A |
G |
7: 26,514,229 (GRCm39) |
|
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,146,229 (GRCm39) |
Y86C |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,202,783 (GRCm39) |
D715G |
probably damaging |
Het |
| Dock1 |
G |
T |
7: 134,734,804 (GRCm39) |
L1317F |
possibly damaging |
Het |
| Fanci |
T |
A |
7: 79,083,279 (GRCm39) |
Y727* |
probably null |
Het |
| Fbxw20 |
T |
A |
9: 109,055,046 (GRCm39) |
T168S |
probably benign |
Het |
| Folh1 |
A |
T |
7: 86,385,723 (GRCm39) |
|
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,573,557 (GRCm39) |
S379C |
probably damaging |
Het |
| Gbp2b |
A |
G |
3: 142,309,987 (GRCm39) |
E259G |
probably benign |
Het |
| Gm8325 |
T |
C |
3: 60,784,805 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr75 |
A |
T |
11: 30,841,730 (GRCm39) |
T212S |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,898,795 (GRCm39) |
T1711A |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,184,796 (GRCm39) |
S453G |
probably benign |
Het |
| Maneal |
A |
G |
4: 124,754,276 (GRCm39) |
|
probably benign |
Het |
| Marco |
A |
T |
1: 120,422,508 (GRCm39) |
I58N |
possibly damaging |
Het |
| Mtcl1 |
A |
G |
17: 66,686,965 (GRCm39) |
I647T |
probably damaging |
Het |
| Mtfr1l |
A |
T |
4: 134,258,054 (GRCm39) |
V56D |
probably damaging |
Het |
| Npy1r |
G |
A |
8: 67,156,954 (GRCm39) |
V125I |
probably damaging |
Het |
| Or1j19 |
C |
T |
2: 36,676,557 (GRCm39) |
Q7* |
probably null |
Het |
| Or52n20 |
T |
C |
7: 104,320,888 (GRCm39) |
|
probably benign |
Het |
| Or7g25 |
A |
G |
9: 19,159,960 (GRCm39) |
L245P |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,867,210 (GRCm39) |
L362* |
probably null |
Het |
| Pdlim2 |
T |
C |
14: 70,411,906 (GRCm39) |
D42G |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,842,100 (GRCm39) |
I89N |
possibly damaging |
Het |
| Prrc2b |
T |
A |
2: 32,104,047 (GRCm39) |
M1175K |
probably benign |
Het |
| Pzp |
T |
A |
6: 128,463,133 (GRCm39) |
N1423I |
probably benign |
Het |
| Retnla |
G |
A |
16: 48,664,561 (GRCm39) |
C105Y |
probably damaging |
Het |
| Samd8 |
T |
A |
14: 21,825,544 (GRCm39) |
S167T |
possibly damaging |
Het |
| Scg2 |
A |
G |
1: 79,414,210 (GRCm39) |
M171T |
possibly damaging |
Het |
| Slc30a5 |
A |
G |
13: 100,939,941 (GRCm39) |
V658A |
probably damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,152,455 (GRCm39) |
R7G |
possibly damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,258,338 (GRCm39) |
T500A |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,446,199 (GRCm39) |
|
probably benign |
Het |
| St8sia6 |
T |
A |
2: 13,798,156 (GRCm39) |
R34W |
probably damaging |
Het |
| Stk-ps2 |
T |
A |
1: 46,069,337 (GRCm39) |
|
noncoding transcript |
Het |
| Stn1 |
T |
C |
19: 47,502,329 (GRCm39) |
Y235C |
probably damaging |
Het |
| Tbx15 |
A |
G |
3: 99,259,800 (GRCm39) |
Y557C |
probably damaging |
Het |
| Tgfbr1 |
G |
A |
4: 47,393,490 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
G |
T |
1: 129,523,508 (GRCm39) |
V181L |
probably damaging |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Trpm4 |
T |
G |
7: 44,976,422 (GRCm39) |
R51S |
probably damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,671 (GRCm39) |
T197S |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,697,160 (GRCm39) |
I739T |
probably damaging |
Het |
| Xrn1 |
A |
G |
9: 95,859,880 (GRCm39) |
D424G |
probably benign |
Het |
| Yap1 |
A |
G |
9: 7,962,282 (GRCm39) |
|
probably null |
Het |
| Zer1 |
T |
C |
2: 30,003,405 (GRCm39) |
D4G |
probably damaging |
Het |
| Zfp462 |
A |
T |
4: 55,010,292 (GRCm39) |
I753F |
possibly 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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation