Incidental Mutation 'R4084:Slc44a4'
| ID |
317055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a4
|
| Ensembl Gene |
ENSMUSG00000007034 |
| Gene Name |
solute carrier family 44, member 4 |
| Synonyms |
NG22, 2210409B01Rik |
| MMRRC Submission |
040857-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4084 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35133442-35149412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35136323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 38
(L38P)
|
| 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: L38P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: L38P
| 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 |
noncoding transcript
Transcript: ENSMUST00000124002
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000173664
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| 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 |
|---|
| Amotl2 |
A |
T |
9: 102,601,884 (GRCm39) |
|
probably null |
Het |
| Arhgdig |
T |
C |
17: 26,418,799 (GRCm39) |
D114G |
possibly damaging |
Het |
| Btnl1 |
C |
T |
17: 34,600,133 (GRCm39) |
T212I |
possibly damaging |
Het |
| Camkk1 |
C |
T |
11: 72,928,691 (GRCm39) |
T410I |
probably damaging |
Het |
| Capn13 |
C |
T |
17: 73,644,444 (GRCm39) |
G362R |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,961,453 (GRCm39) |
T392A |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,950,632 (GRCm39) |
I1626V |
probably benign |
Het |
| Cdon |
C |
A |
9: 35,389,427 (GRCm39) |
T844K |
probably damaging |
Het |
| Col28a1 |
G |
A |
6: 8,013,131 (GRCm39) |
Q974* |
probably null |
Het |
| Col28a1 |
C |
G |
6: 8,013,132 (GRCm39) |
K973N |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,358,795 (GRCm39) |
L3428P |
probably damaging |
Het |
| Ecm1 |
A |
T |
3: 95,641,676 (GRCm39) |
N519K |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,689,248 (GRCm39) |
V457A |
probably damaging |
Het |
| Flna |
C |
T |
X: 73,280,531 (GRCm39) |
V1009M |
possibly damaging |
Het |
| Fmnl2 |
A |
T |
2: 52,997,507 (GRCm39) |
K486I |
possibly damaging |
Het |
| Gja1 |
A |
C |
10: 56,264,607 (GRCm39) |
Q322P |
possibly damaging |
Het |
| Gtpbp3 |
A |
G |
8: 71,943,156 (GRCm39) |
Q189R |
probably benign |
Het |
| H2-Eb1 |
T |
C |
17: 34,533,417 (GRCm39) |
V213A |
probably damaging |
Het |
| Herc4 |
G |
T |
10: 63,119,016 (GRCm39) |
G322V |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,820,856 (GRCm39) |
G668* |
probably null |
Het |
| Htra1 |
T |
C |
7: 130,538,074 (GRCm39) |
S25P |
probably benign |
Het |
| Ifi44 |
A |
G |
3: 151,451,126 (GRCm39) |
|
probably null |
Het |
| Klhl24 |
T |
A |
16: 19,933,312 (GRCm39) |
S308T |
probably damaging |
Het |
| Lamb2 |
A |
G |
9: 108,365,217 (GRCm39) |
N1291S |
probably benign |
Het |
| Lgals9 |
A |
T |
11: 78,860,589 (GRCm39) |
F162Y |
possibly damaging |
Het |
| Lig3 |
T |
A |
11: 82,686,250 (GRCm39) |
I634N |
probably damaging |
Het |
| Lipn |
T |
C |
19: 34,056,340 (GRCm39) |
F229L |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,442,716 (GRCm39) |
S466R |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,860,232 (GRCm39) |
T22I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,343,865 (GRCm39) |
H2119R |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,234,920 (GRCm39) |
C634Y |
probably damaging |
Het |
| Nap1l1 |
G |
A |
10: 111,325,938 (GRCm39) |
V86I |
possibly damaging |
Het |
| Noxred1 |
A |
G |
12: 87,280,258 (GRCm39) |
Y25H |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,573,248 (GRCm39) |
L62P |
probably damaging |
Het |
| Or11h6 |
T |
A |
14: 50,880,305 (GRCm39) |
I189N |
probably damaging |
Het |
| Or2b2 |
G |
A |
13: 21,887,238 (GRCm39) |
W22* |
probably null |
Het |
| Or2b2 |
C |
A |
13: 21,887,239 (GRCm39) |
L23M |
probably damaging |
Het |
| Or52ab4 |
T |
G |
7: 102,987,527 (GRCm39) |
F89V |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,347,142 (GRCm39) |
D979A |
probably damaging |
Het |
| Pla2g4f |
C |
G |
2: 120,142,806 (GRCm39) |
Q101H |
probably benign |
Het |
| Ppp1r15b |
T |
C |
1: 133,060,805 (GRCm39) |
F441L |
probably damaging |
Het |
| Prkaca |
C |
A |
8: 84,721,939 (GRCm39) |
P309T |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,826,386 (GRCm39) |
Y720H |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,386,808 (GRCm39) |
E751G |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGCGGCGGCGGC |
GCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,126 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,731,253 (GRCm39) |
S686P |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,921,860 (GRCm39) |
V240A |
possibly damaging |
Het |
| Slc10a2 |
T |
G |
8: 5,139,126 (GRCm39) |
I273L |
possibly damaging |
Het |
| Slc23a2 |
A |
T |
2: 131,933,137 (GRCm39) |
L107* |
probably null |
Het |
| Slc6a18 |
C |
T |
13: 73,815,148 (GRCm39) |
V387I |
probably benign |
Het |
| Slu7 |
G |
A |
11: 43,334,218 (GRCm39) |
A415T |
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,802,413 (GRCm39) |
R572S |
possibly damaging |
Het |
| Tmem45a2 |
C |
T |
16: 56,891,387 (GRCm39) |
G3D |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,892,192 (GRCm39) |
T242A |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,857,871 (GRCm39) |
N1157K |
probably benign |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,899 (GRCm39) |
D235V |
probably benign |
Het |
| Vmn2r37 |
C |
T |
7: 9,218,984 (GRCm39) |
V467I |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,600,414 (GRCm39) |
E495K |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,213,098 (GRCm39) |
E161G |
probably damaging |
Het |
| Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,108,122 (GRCm39) |
N27K |
possibly damaging |
Het |
| Zfp27 |
C |
T |
7: 29,594,792 (GRCm39) |
R391H |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAGCTACTCAGGTGTGTG -3'
(R):5'- TTCTGGGGTAGAGCACTTGC -3'
Sequencing Primer
(F):5'- GCACTTTAATTCCAGGCAAAGG -3'
(R):5'- ACTTGCCGAGGGTCTCCATAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation