Incidental Mutation 'R6863:Slc44a4'
| ID |
535783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a4
|
| Ensembl Gene |
ENSMUSG00000007034 |
| Gene Name |
solute carrier family 44, member 4 |
| Synonyms |
NG22, 2210409B01Rik |
| MMRRC Submission |
044963-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6863 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35133442-35149412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35142798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 248
(V248D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000169230]
|
| AlphaFold |
Q91VA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007249
AA Change: V400D
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: V400D
| 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: V248D
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: V248D
| 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: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (56/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,277,627 (GRCm39) |
Y278* |
probably null |
Het |
| Agap3 |
A |
T |
5: 24,657,461 (GRCm39) |
Y86F |
possibly damaging |
Het |
| Agap3 |
C |
A |
5: 24,657,462 (GRCm39) |
Y86* |
probably null |
Het |
| Ahnak |
T |
C |
19: 8,989,729 (GRCm39) |
|
probably benign |
Het |
| Arhgap45 |
G |
T |
10: 79,853,616 (GRCm39) |
E43D |
probably benign |
Het |
| Cacna1d |
A |
C |
14: 29,797,809 (GRCm39) |
I1426S |
probably damaging |
Het |
| Calhm5 |
C |
A |
10: 33,968,451 (GRCm39) |
A201S |
probably benign |
Het |
| Cdkn2a |
T |
C |
4: 89,193,003 (GRCm39) |
E159G |
probably benign |
Het |
| Cep85l |
C |
A |
10: 53,225,214 (GRCm39) |
W125L |
probably damaging |
Het |
| Ces1g |
C |
T |
8: 94,043,647 (GRCm39) |
V431M |
possibly damaging |
Het |
| Csmd1 |
G |
A |
8: 17,584,929 (GRCm39) |
A21V |
possibly damaging |
Het |
| Ctsc |
T |
A |
7: 87,951,486 (GRCm39) |
Y243* |
probably null |
Het |
| Ctu1 |
A |
G |
7: 43,326,046 (GRCm39) |
E235G |
probably damaging |
Het |
| Degs2 |
T |
C |
12: 108,668,457 (GRCm39) |
Y14C |
probably damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,137,351 (GRCm39) |
F235L |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,942,290 (GRCm39) |
S5P |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,618,614 (GRCm39) |
I3288T |
probably benign |
Het |
| Ebpl |
A |
T |
14: 61,597,751 (GRCm39) |
L30Q |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,287,968 (GRCm39) |
Y95C |
probably damaging |
Het |
| Etaa1 |
T |
A |
11: 17,903,794 (GRCm39) |
M1L |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,120 (GRCm39) |
T1068A |
probably benign |
Het |
| Eya1 |
C |
A |
1: 14,341,199 (GRCm39) |
|
probably null |
Het |
| Fat1 |
G |
T |
8: 45,497,501 (GRCm39) |
V4329L |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,691,165 (GRCm39) |
Q127L |
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,792,360 (GRCm39) |
Y590S |
probably damaging |
Het |
| Gm14410 |
G |
A |
2: 176,885,860 (GRCm39) |
Q135* |
probably null |
Het |
| Greb1 |
A |
T |
12: 16,734,421 (GRCm39) |
V1523D |
probably damaging |
Het |
| Hmg20b |
T |
C |
10: 81,182,854 (GRCm39) |
N210S |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,618,029 (GRCm39) |
K487E |
possibly damaging |
Het |
| Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
| Kif17 |
T |
A |
4: 137,997,195 (GRCm39) |
Y139* |
probably null |
Het |
| Klhl2 |
A |
T |
8: 65,275,743 (GRCm39) |
N53K |
probably benign |
Het |
| Lrit2 |
G |
T |
14: 36,793,901 (GRCm39) |
G322C |
probably damaging |
Het |
| Macir |
T |
C |
1: 97,574,030 (GRCm39) |
T12A |
probably benign |
Het |
| Matcap1 |
T |
C |
8: 106,012,435 (GRCm39) |
D4G |
probably damaging |
Het |
| Mgam |
A |
T |
6: 40,705,943 (GRCm39) |
Q4L |
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,797,225 (GRCm39) |
T1365A |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mydgf |
C |
A |
17: 56,490,789 (GRCm39) |
V35L |
probably damaging |
Het |
| Nmt2 |
T |
A |
2: 3,306,341 (GRCm39) |
|
probably null |
Het |
| Or10s1 |
A |
G |
9: 39,986,110 (GRCm39) |
Y173C |
probably damaging |
Het |
| Or52ad1 |
C |
T |
7: 102,996,123 (GRCm39) |
C4Y |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,223,058 (GRCm39) |
Y454C |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 115,956,866 (GRCm39) |
Y485C |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,437,206 (GRCm39) |
S50T |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,317,300 (GRCm39) |
S755G |
probably damaging |
Het |
| Shb |
A |
G |
4: 45,458,163 (GRCm39) |
W135R |
probably damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,264,001 (GRCm39) |
K239E |
probably damaging |
Het |
| Smpdl3a |
T |
A |
10: 57,684,107 (GRCm39) |
Y288* |
probably null |
Het |
| Sptbn1 |
T |
C |
11: 30,096,777 (GRCm39) |
M267V |
possibly damaging |
Het |
| Taok2 |
C |
T |
7: 126,471,109 (GRCm39) |
R661Q |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,397,030 (GRCm39) |
I819F |
probably damaging |
Het |
| Themis2 |
A |
T |
4: 132,516,907 (GRCm39) |
W198R |
probably damaging |
Het |
| Timd4 |
C |
G |
11: 46,706,270 (GRCm39) |
S24* |
probably null |
Het |
| Tnrc18 |
T |
C |
5: 142,800,952 (GRCm39) |
D2G |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,040,047 (GRCm39) |
D384G |
probably damaging |
Het |
| Zfp560 |
C |
A |
9: 20,259,795 (GRCm39) |
V356F |
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 |
|
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 |
|
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'- TGAATGCCAACCCTCTGTGG -3'
(R):5'- ACTTGATATTCAACCTCCCCAG -3'
Sequencing Primer
(F):5'- CCTCTGTGGGAGTGAACAATC -3'
(R):5'- CTCACTTTCCACAAATTGGGTAAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation