Incidental Mutation 'R8929:Slc44a4'
| ID |
679770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a4
|
| Ensembl Gene |
ENSMUSG00000007034 |
| Gene Name |
solute carrier family 44, member 4 |
| Synonyms |
NG22, 2210409B01Rik |
| MMRRC Submission |
068773-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8929 (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 35136508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 58
(D58V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000013931]
[ENSMUST00000078061]
[ENSMUST00000097342]
[ENSMUST00000114033]
[ENSMUST00000137071]
[ENSMUST00000169230]
|
| AlphaFold |
Q91VA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007249
AA Change: D58V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: D58V
| 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: ENSMUST00000013931
|
| SMART Domains |
Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
47 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
627 |
N/A |
INTRINSIC |
|
ANK
|
737 |
766 |
2.52e-6 |
SMART |
|
ANK
|
770 |
799 |
1.19e-2 |
SMART |
|
ANK
|
803 |
833 |
4.71e-6 |
SMART |
|
ANK
|
837 |
866 |
2.9e-6 |
SMART |
|
ANK
|
870 |
899 |
1e0 |
SMART |
|
ANK
|
903 |
932 |
1.53e-5 |
SMART |
|
PreSET
|
976 |
1075 |
2.44e-40 |
SMART |
|
SET
|
1091 |
1214 |
4.08e-46 |
SMART |
|
PostSET
|
1217 |
1233 |
2.84e-1 |
SMART |
|
low complexity region
|
1245 |
1260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078061
|
| SMART Domains |
Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
279 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
536 |
N/A |
INTRINSIC |
|
ANK
|
646 |
675 |
2.52e-6 |
SMART |
|
ANK
|
679 |
708 |
1.19e-2 |
SMART |
|
ANK
|
712 |
742 |
4.71e-6 |
SMART |
|
ANK
|
746 |
775 |
2.9e-6 |
SMART |
|
ANK
|
779 |
808 |
1e0 |
SMART |
|
ANK
|
812 |
841 |
1.53e-5 |
SMART |
|
PreSET
|
885 |
984 |
2.44e-40 |
SMART |
|
SET
|
1000 |
1123 |
4.08e-46 |
SMART |
|
PostSET
|
1126 |
1142 |
2.84e-1 |
SMART |
|
low complexity region
|
1154 |
1169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097342
|
| SMART Domains |
Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
47 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
593 |
N/A |
INTRINSIC |
|
ANK
|
703 |
732 |
2.52e-6 |
SMART |
|
ANK
|
736 |
765 |
1.19e-2 |
SMART |
|
ANK
|
769 |
799 |
4.71e-6 |
SMART |
|
ANK
|
803 |
832 |
2.9e-6 |
SMART |
|
ANK
|
836 |
865 |
1e0 |
SMART |
|
ANK
|
869 |
898 |
1.53e-5 |
SMART |
|
PreSET
|
942 |
1041 |
2.44e-40 |
SMART |
|
SET
|
1057 |
1180 |
4.08e-46 |
SMART |
|
PostSET
|
1183 |
1199 |
2.84e-1 |
SMART |
|
low complexity region
|
1211 |
1226 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114033
|
| SMART Domains |
Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
279 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
570 |
N/A |
INTRINSIC |
|
ANK
|
680 |
709 |
2.52e-6 |
SMART |
|
ANK
|
713 |
742 |
1.19e-2 |
SMART |
|
ANK
|
746 |
776 |
4.71e-6 |
SMART |
|
ANK
|
780 |
809 |
2.9e-6 |
SMART |
|
ANK
|
813 |
842 |
1e0 |
SMART |
|
ANK
|
846 |
875 |
1.53e-5 |
SMART |
|
PreSET
|
919 |
1018 |
2.44e-40 |
SMART |
|
SET
|
1034 |
1157 |
4.08e-46 |
SMART |
|
PostSET
|
1160 |
1176 |
2.84e-1 |
SMART |
|
low complexity region
|
1188 |
1203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137071
|
| SMART Domains |
Protein: ENSMUSP00000134749
Gene: ENSMUSG00000013787
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
23 |
52 |
1.19e-2 |
SMART |
|
ANK
|
56 |
86 |
4.71e-6 |
SMART |
|
ANK
|
90 |
119 |
2.9e-6 |
SMART |
|
low complexity region
|
143 |
154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169230
|
| SMART Domains |
Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1 |
A |
G |
2: 179,814,730 (GRCm39) |
K99E |
unknown |
Het |
| Agxt2 |
C |
A |
15: 10,393,830 (GRCm39) |
L375I |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,258,752 (GRCm39) |
S459P |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,479,203 (GRCm39) |
T1471S |
probably damaging |
Het |
| Atxn2l |
C |
G |
7: 126,092,928 (GRCm39) |
|
probably benign |
Het |
| Azi2 |
C |
A |
9: 117,879,044 (GRCm39) |
T141K |
probably damaging |
Het |
| B4galt6 |
A |
G |
18: 20,821,422 (GRCm39) |
S369P |
possibly damaging |
Het |
| BC051019 |
C |
T |
7: 109,315,233 (GRCm39) |
E341K |
probably damaging |
Het |
| Bdh1 |
G |
A |
16: 31,275,712 (GRCm39) |
D278N |
probably benign |
Het |
| Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
| Cdipt |
T |
G |
7: 126,578,825 (GRCm39) |
D205E |
probably damaging |
Het |
| Clec4b1 |
G |
T |
6: 123,046,728 (GRCm39) |
|
probably null |
Het |
| Clip4 |
T |
C |
17: 72,138,203 (GRCm39) |
L467S |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,298 (GRCm39) |
I154T |
probably benign |
Het |
| Cyp2j5 |
T |
C |
4: 96,546,977 (GRCm39) |
N179S |
possibly damaging |
Het |
| Dpf1 |
A |
T |
7: 29,009,174 (GRCm39) |
I100F |
probably benign |
Het |
| Dppa5a |
A |
G |
9: 78,275,165 (GRCm39) |
S46P |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,511,607 (GRCm39) |
D200G |
probably benign |
Het |
| Ern2 |
C |
T |
7: 121,769,363 (GRCm39) |
A888T |
probably benign |
Het |
| Fndc3b |
C |
T |
3: 27,596,253 (GRCm39) |
S112N |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,917,366 (GRCm39) |
V3462A |
probably damaging |
Het |
| Fstl5 |
T |
C |
3: 76,615,138 (GRCm39) |
I733T |
probably damaging |
Het |
| Gdf3 |
C |
T |
6: 122,586,756 (GRCm39) |
R57Q |
|
Het |
| Grwd1 |
A |
T |
7: 45,480,056 (GRCm39) |
D50E |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,798,988 (GRCm39) |
D339Y |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,196,982 (GRCm39) |
D19G |
probably damaging |
Het |
| Lefty1 |
A |
G |
1: 180,765,290 (GRCm39) |
E286G |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,893,819 (GRCm39) |
F507L |
probably damaging |
Het |
| Mcm4 |
T |
A |
16: 15,448,289 (GRCm39) |
T423S |
probably benign |
Het |
| Metap1 |
T |
C |
3: 138,174,643 (GRCm39) |
K247E |
probably benign |
Het |
| Muc4 |
T |
G |
16: 32,575,285 (GRCm39) |
I1290S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,754,017 (GRCm38) |
T1298S |
possibly damaging |
Het |
| Nars1 |
G |
T |
18: 64,644,895 (GRCm39) |
H82Q |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,415,983 (GRCm39) |
E1121V |
probably damaging |
Het |
| Nebl |
C |
A |
2: 17,397,991 (GRCm39) |
E481* |
probably null |
Het |
| Pdap1 |
T |
C |
5: 145,069,672 (GRCm39) |
E111G |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,643,379 (GRCm39) |
F67S |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,445,654 (GRCm39) |
F510S |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,396 (GRCm39) |
Y524N |
probably damaging |
Het |
| Ptpn4 |
A |
T |
1: 119,595,278 (GRCm39) |
M887K |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,803,507 (GRCm39) |
D414G |
possibly damaging |
Het |
| Sema5b |
C |
A |
16: 35,467,737 (GRCm39) |
|
probably benign |
Het |
| Slain1 |
A |
T |
14: 103,923,164 (GRCm39) |
T252S |
probably damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,028,137 (GRCm39) |
F164S |
probably damaging |
Het |
| Slc39a7 |
T |
C |
17: 34,249,964 (GRCm39) |
H90R |
unknown |
Het |
| Slc5a4a |
A |
G |
10: 76,006,617 (GRCm39) |
T340A |
probably benign |
Het |
| Sod2 |
C |
A |
17: 13,233,974 (GRCm39) |
N195K |
probably damaging |
Het |
| Spart |
T |
C |
3: 55,035,979 (GRCm39) |
S572P |
possibly damaging |
Het |
| Sytl2 |
C |
T |
7: 90,024,810 (GRCm39) |
A266V |
probably benign |
Het |
| Tbx15 |
T |
A |
3: 99,222,219 (GRCm39) |
D227E |
probably damaging |
Het |
| Tfap2a |
A |
G |
13: 40,882,308 (GRCm39) |
V26A |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,208,003 (GRCm39) |
F1749L |
possibly damaging |
Het |
| Trpc6 |
A |
G |
9: 8,643,411 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,706,924 (GRCm39) |
I9089N |
unknown |
Het |
| Tut7 |
A |
G |
13: 59,947,942 (GRCm39) |
V793A |
probably benign |
Het |
| Unc13a |
T |
C |
8: 72,103,835 (GRCm39) |
T866A |
probably benign |
Het |
| Vmn1r212 |
T |
A |
13: 23,067,494 (GRCm39) |
S280C |
possibly damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,541 (GRCm39) |
T847A |
probably benign |
Het |
| Zer1 |
A |
G |
2: 30,000,881 (GRCm39) |
L180P |
probably damaging |
Het |
| Zfp445 |
T |
G |
9: 122,682,732 (GRCm39) |
Y403S |
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 |
|
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 |
|
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'- GGGTTACATCATAGTGGGGC -3'
(R):5'- GTGGAGACTCACAGTGAAGTCTG -3'
Sequencing Primer
(F):5'- CTTGTGGGTAAGTTTCTAGCTACCC -3'
(R):5'- GAGACTCACAGTGAAGTCTGAACTC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation