Incidental Mutation 'IGL02754:Slc44a4'
ID |
306329 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc44a4
|
Ensembl Gene |
ENSMUSG00000007034 |
Gene Name |
solute carrier family 44, member 4 |
Synonyms |
NG22, 2210409B01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02754
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35133442-35149412 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35140279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 228
(Y228C)
|
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: Y228C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000007249 Gene: ENSMUSG00000007034 AA Change: Y228C
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 |
possibly damaging
Transcript: ENSMUST00000169230
AA Change: Y76C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000132965 Gene: ENSMUSG00000007034 AA Change: Y76C
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173664
|
Coding Region Coverage |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AW551984 |
T |
A |
9: 39,507,922 (GRCm39) |
R405* |
probably null |
Het |
AW551984 |
C |
T |
9: 39,504,624 (GRCm39) |
|
probably null |
Het |
Bdp1 |
T |
C |
13: 100,197,481 (GRCm39) |
E968G |
possibly damaging |
Het |
Ccdc68 |
T |
C |
18: 70,076,935 (GRCm39) |
|
probably null |
Het |
Ccdc87 |
T |
A |
19: 4,889,889 (GRCm39) |
L127H |
probably damaging |
Het |
Cdk5r1 |
G |
T |
11: 80,368,569 (GRCm39) |
A79S |
probably benign |
Het |
Cdyl |
A |
T |
13: 35,867,725 (GRCm39) |
|
probably benign |
Het |
Cfdp1 |
A |
G |
8: 112,580,766 (GRCm39) |
|
probably benign |
Het |
Chi3l1 |
A |
T |
1: 134,111,339 (GRCm39) |
I62F |
probably damaging |
Het |
Cnot1 |
A |
T |
8: 96,481,706 (GRCm39) |
I789K |
probably benign |
Het |
Cobl |
T |
C |
11: 12,204,371 (GRCm39) |
K695R |
probably damaging |
Het |
Cobl |
C |
A |
11: 12,204,370 (GRCm39) |
K752N |
probably damaging |
Het |
Cstdc5 |
G |
A |
16: 36,179,899 (GRCm39) |
P73S |
probably benign |
Het |
Dcaf6 |
T |
C |
1: 165,165,915 (GRCm39) |
|
probably null |
Het |
Ece2 |
A |
T |
16: 20,451,398 (GRCm39) |
I197F |
probably damaging |
Het |
Eif2b5 |
T |
G |
16: 20,321,536 (GRCm39) |
V363G |
possibly damaging |
Het |
Gca |
T |
C |
2: 62,502,702 (GRCm39) |
S37P |
probably benign |
Het |
Ghsr |
A |
C |
3: 27,426,645 (GRCm39) |
I234L |
probably damaging |
Het |
Grin3b |
A |
T |
10: 79,808,723 (GRCm39) |
I158F |
possibly damaging |
Het |
Gtf2h2 |
A |
T |
13: 100,617,747 (GRCm39) |
D178E |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,747,246 (GRCm39) |
E461G |
probably damaging |
Het |
Hsph1 |
T |
A |
5: 149,547,057 (GRCm39) |
N531I |
possibly damaging |
Het |
Insl6 |
G |
T |
19: 29,302,529 (GRCm39) |
Q63K |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,592,806 (GRCm39) |
N3771S |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,691,952 (GRCm39) |
|
probably null |
Het |
Lvrn |
C |
T |
18: 47,023,971 (GRCm39) |
Q773* |
probably null |
Het |
Mterf1b |
T |
C |
5: 4,246,478 (GRCm39) |
F40L |
possibly damaging |
Het |
Nrg1 |
G |
A |
8: 32,316,391 (GRCm39) |
|
probably benign |
Het |
Or10ak13 |
T |
A |
4: 118,639,117 (GRCm39) |
I222F |
possibly damaging |
Het |
Or1n1 |
T |
A |
2: 36,750,232 (GRCm39) |
I43F |
probably damaging |
Het |
Or5p79 |
T |
C |
7: 108,221,880 (GRCm39) |
I287T |
possibly damaging |
Het |
Pax5 |
C |
T |
4: 44,570,059 (GRCm39) |
V319I |
probably damaging |
Het |
Plcz1 |
T |
A |
6: 139,956,307 (GRCm39) |
T321S |
probably benign |
Het |
Plekha6 |
A |
G |
1: 133,212,676 (GRCm39) |
E660G |
probably damaging |
Het |
Prep |
T |
C |
10: 44,943,428 (GRCm39) |
M1T |
probably null |
Het |
Prickle1 |
C |
T |
15: 93,399,034 (GRCm39) |
S598N |
possibly damaging |
Het |
Prtn3 |
A |
G |
10: 79,716,932 (GRCm39) |
Q99R |
probably benign |
Het |
Rad50 |
A |
G |
11: 53,592,883 (GRCm39) |
V89A |
probably damaging |
Het |
Ret |
T |
C |
6: 118,153,213 (GRCm39) |
Y485C |
probably benign |
Het |
Setd2 |
T |
A |
9: 110,379,124 (GRCm39) |
F980I |
possibly damaging |
Het |
Tex10 |
C |
T |
4: 48,435,028 (GRCm39) |
C779Y |
possibly damaging |
Het |
Tfdp2 |
T |
G |
9: 96,199,592 (GRCm39) |
S285A |
probably benign |
Het |
Thsd4 |
T |
A |
9: 59,896,380 (GRCm39) |
|
probably benign |
Het |
Tmem106a |
A |
C |
11: 101,481,219 (GRCm39) |
E242D |
probably benign |
Het |
Ttc22 |
T |
C |
4: 106,495,669 (GRCm39) |
V341A |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,138,095 (GRCm39) |
S1151T |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,120,470 (GRCm39) |
|
probably null |
Het |
Vmn1r206 |
A |
T |
13: 22,805,060 (GRCm39) |
L49* |
probably null |
Het |
Vmn1r233 |
A |
T |
17: 21,214,887 (GRCm39) |
F21Y |
probably benign |
Het |
Vmn1r233 |
A |
T |
17: 21,214,886 (GRCm39) |
F21L |
probably benign |
Het |
Vmn2r15 |
A |
T |
5: 109,441,134 (GRCm39) |
C241* |
probably null |
Het |
Zmym6 |
T |
A |
4: 127,003,764 (GRCm39) |
|
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 |
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 |
R9755:Slc44a4
|
UTSW |
17 |
35,136,331 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |