Incidental Mutation 'R9755:Slc44a4'
| ID |
732707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a4
|
| Ensembl Gene |
ENSMUSG00000007034 |
| Gene Name |
solute carrier family 44, member 4 |
| Synonyms |
NG22, 2210409B01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9755 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35133442-35149412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35136331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 41
(I41V)
|
| 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 benign
Transcript: ENSMUST00000007249
AA Change: I41V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: I41V
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
T |
14: 54,889,292 (GRCm39) |
M774K |
probably damaging |
Het |
| Adamts9 |
T |
C |
6: 92,856,922 (GRCm39) |
R906G |
probably benign |
Het |
| Adgrl4 |
A |
T |
3: 151,216,418 (GRCm39) |
T534S |
probably benign |
Het |
| Amph |
A |
T |
13: 19,297,325 (GRCm39) |
D357V |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,227,926 (GRCm39) |
V452I |
possibly damaging |
Het |
| B4galnt2 |
G |
A |
11: 95,774,801 (GRCm39) |
Q160* |
probably null |
Het |
| C1galt1 |
T |
G |
6: 7,867,019 (GRCm39) |
N288K |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,651,559 (GRCm39) |
D967G |
probably damaging |
Het |
| Cacul1 |
C |
T |
19: 60,533,955 (GRCm39) |
E216K |
probably damaging |
Het |
| Cenpq |
A |
T |
17: 41,243,712 (GRCm39) |
S45R |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,757,230 (GRCm39) |
M2216L |
unknown |
Het |
| Cfhr1 |
A |
G |
1: 139,487,889 (GRCm39) |
F3S |
probably benign |
Het |
| Csf2rb |
T |
G |
15: 78,232,824 (GRCm39) |
Y710* |
probably null |
Het |
| Dhh |
A |
G |
15: 98,792,939 (GRCm39) |
V107A |
possibly damaging |
Het |
| Etl4 |
A |
T |
2: 20,790,048 (GRCm39) |
T849S |
probably benign |
Het |
| Gnrh1 |
G |
A |
14: 67,986,699 (GRCm39) |
E78K |
possibly damaging |
Het |
| Golga3 |
A |
G |
5: 110,340,847 (GRCm39) |
T514A |
probably benign |
Het |
| Gramd1c |
T |
A |
16: 43,803,879 (GRCm39) |
K393N |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,492,460 (GRCm39) |
Y844C |
probably damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,093,147 (GRCm39) |
H64L |
possibly damaging |
Het |
| Mak |
G |
T |
13: 41,199,623 (GRCm39) |
Q339K |
probably benign |
Het |
| Mdfic |
G |
T |
6: 15,799,758 (GRCm39) |
C295F |
probably damaging |
Het |
| Mdfic2 |
A |
T |
6: 98,225,147 (GRCm39) |
N45K |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Miip |
A |
T |
4: 147,950,319 (GRCm39) |
Y92* |
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,551,806 (GRCm39) |
S175T |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,549,374 (GRCm39) |
|
probably null |
Het |
| Ndnf |
T |
G |
6: 65,680,502 (GRCm39) |
D260E |
probably benign |
Het |
| Nphp1 |
G |
A |
2: 127,595,951 (GRCm39) |
Q505* |
probably null |
Het |
| Or12e7 |
C |
A |
2: 87,287,719 (GRCm39) |
A70E |
probably damaging |
Het |
| Or8g29-ps1 |
A |
G |
9: 39,200,970 (GRCm39) |
V72A |
possibly damaging |
Het |
| Plcg1 |
G |
A |
2: 160,573,780 (GRCm39) |
G15D |
probably benign |
Het |
| Ppm1h |
A |
G |
10: 122,638,165 (GRCm39) |
Y145C |
probably damaging |
Het |
| Prickle2 |
C |
T |
6: 92,399,319 (GRCm39) |
C186Y |
probably damaging |
Het |
| Prmt6 |
A |
C |
3: 110,157,359 (GRCm39) |
L310R |
probably damaging |
Het |
| Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
| Sapcd1 |
A |
G |
17: 35,245,400 (GRCm39) |
S128P |
probably benign |
Het |
| Scart2 |
T |
A |
7: 139,841,544 (GRCm39) |
|
probably null |
Het |
| Sema3b |
T |
C |
9: 107,478,784 (GRCm39) |
S331G |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skil |
A |
G |
3: 31,151,544 (GRCm39) |
E22G |
probably benign |
Het |
| Slc13a1 |
T |
C |
6: 24,134,407 (GRCm39) |
I159V |
probably benign |
Het |
| Taar2 |
T |
C |
10: 23,817,038 (GRCm39) |
F193L |
probably damaging |
Het |
| Taar8a |
A |
G |
10: 23,952,995 (GRCm39) |
I200V |
probably benign |
Het |
| Trpc4 |
A |
G |
3: 54,223,215 (GRCm39) |
Y717C |
probably damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,620,065 (GRCm39) |
T600S |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,722,055 (GRCm39) |
T1353A |
probably damaging |
Het |
| Zfp830 |
C |
T |
11: 82,655,805 (GRCm39) |
T203I |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTAGCTACTCAGGTGTG -3'
(R):5'- TTCTGGGGTAGAGCACTTGC -3'
Sequencing Primer
(F):5'- GCACTTTAATTCCAGGCAAAGG -3'
(R):5'- ACTTGCCGAGGGTCTCCATAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation