Incidental Mutation 'R8244:Slc44a4'
ID |
640889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc44a4
|
Ensembl Gene |
ENSMUSG00000007034 |
Gene Name |
solute carrier family 44, member 4 |
Synonyms |
NG22, 2210409B01Rik |
MMRRC Submission |
067672-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8244 (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 C
at 35140548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 247
(L247P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000169230]
|
AlphaFold |
Q91VA1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000007249
AA Change: L247P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000007249 Gene: ENSMUSG00000007034 AA Change: L247P
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 damaging
Transcript: ENSMUST00000169230
AA Change: L95P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132965 Gene: ENSMUSG00000007034 AA Change: L95P
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 |
|
Meta Mutation Damage Score |
0.5243 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (44/45) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
T |
C |
7: 27,271,004 (GRCm39) |
I133T |
probably damaging |
Het |
Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
Alg5 |
A |
G |
3: 54,646,221 (GRCm39) |
I29V |
probably benign |
Het |
Ankar |
A |
G |
1: 72,690,183 (GRCm39) |
I1216T |
probably benign |
Het |
Ap5z1 |
A |
T |
5: 142,459,735 (GRCm39) |
T462S |
possibly damaging |
Het |
Apc2 |
A |
T |
10: 80,151,166 (GRCm39) |
R2073S |
probably damaging |
Het |
Apob |
A |
T |
12: 8,060,548 (GRCm39) |
E3010V |
probably damaging |
Het |
Arid3c |
T |
G |
4: 41,729,997 (GRCm39) |
E66A |
possibly damaging |
Het |
Atf7 |
A |
G |
15: 102,437,301 (GRCm39) |
S54P |
unknown |
Het |
Cbx3 |
C |
T |
6: 51,452,350 (GRCm39) |
T55I |
probably benign |
Het |
Clptm1 |
A |
T |
7: 19,372,916 (GRCm39) |
F205I |
possibly damaging |
Het |
Cramp1 |
T |
A |
17: 25,190,384 (GRCm39) |
I1117F |
probably damaging |
Het |
Dgkq |
A |
G |
5: 108,796,578 (GRCm39) |
*935Q |
probably null |
Het |
Dock2 |
A |
T |
11: 34,586,280 (GRCm39) |
F511I |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,687,217 (GRCm39) |
R15H |
probably damaging |
Het |
Ehmt2 |
A |
G |
17: 35,124,238 (GRCm39) |
D385G |
probably damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Gfpt1 |
T |
A |
6: 87,040,613 (GRCm39) |
|
probably benign |
Het |
Gm21680 |
T |
C |
5: 26,173,983 (GRCm39) |
E207G |
probably damaging |
Het |
Igsf23 |
A |
T |
7: 19,675,798 (GRCm39) |
C141S |
possibly damaging |
Het |
Ktn1 |
A |
T |
14: 47,912,280 (GRCm39) |
E349V |
probably null |
Het |
Lrp1b |
T |
C |
2: 41,396,794 (GRCm39) |
D424G |
|
Het |
Lrrc9 |
A |
G |
12: 72,546,384 (GRCm39) |
I1190V |
probably benign |
Het |
Lztfl1 |
T |
A |
9: 123,541,514 (GRCm39) |
I102F |
probably damaging |
Het |
Mapk11 |
G |
T |
15: 89,030,007 (GRCm39) |
T203K |
possibly damaging |
Het |
Mgam |
T |
A |
6: 40,727,520 (GRCm39) |
I1315N |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,331,750 (GRCm39) |
M695T |
probably benign |
Het |
Pdcd4 |
A |
G |
19: 53,895,965 (GRCm39) |
T8A |
probably benign |
Het |
Pramel27 |
T |
C |
4: 143,579,854 (GRCm39) |
Y480H |
probably damaging |
Het |
Ptx4 |
A |
G |
17: 25,341,839 (GRCm39) |
K105E |
possibly damaging |
Het |
Pxn |
C |
T |
5: 115,690,302 (GRCm39) |
P381L |
probably damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,156,276 (GRCm39) |
L236P |
probably damaging |
Het |
Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
Sh2b2 |
G |
T |
5: 136,256,291 (GRCm39) |
S247* |
probably null |
Het |
Sim2 |
T |
A |
16: 93,910,222 (GRCm39) |
V208E |
probably damaging |
Het |
Sox1 |
GGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGG |
8: 12,446,468 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,330,406 (GRCm39) |
D1937G |
probably damaging |
Het |
Tmem131 |
T |
C |
1: 36,847,974 (GRCm39) |
N1158S |
probably benign |
Het |
Tns1 |
G |
T |
1: 73,976,410 (GRCm39) |
A1146E |
probably damaging |
Het |
Tom1l1 |
T |
C |
11: 90,548,647 (GRCm39) |
E308G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,659,051 (GRCm39) |
K12262* |
probably null |
Het |
Vps13b |
G |
T |
15: 35,917,349 (GRCm39) |
G3731V |
probably damaging |
Het |
Wdr20 |
G |
A |
12: 110,760,076 (GRCm39) |
E321K |
probably benign |
Het |
Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
Zfp979 |
A |
T |
4: 147,697,933 (GRCm39) |
C259S |
possibly damaging |
Het |
Zscan20 |
T |
C |
4: 128,479,759 (GRCm39) |
T911A |
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 |
|
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'- TCGTGTGAGTCCATGGCTTC -3'
(R):5'- CACACTCTGGTAGGCACTGAAG -3'
Sequencing Primer
(F):5'- CCAAGTCTACATGTGAACTGATCAG -3'
(R):5'- CACTGAAGTTGGTAGTGAAGCCC -3'
|
Posted On |
2020-07-28 |