Incidental Mutation 'IGL01396:Slc35a5'
| ID |
79463 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc35a5
|
| Ensembl Gene |
ENSMUSG00000022664 |
| Gene Name |
solute carrier family 35, member A5 |
| Synonyms |
1010001J06Rik, D730043G07Rik, D16Ertd450e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
IGL01396
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
44959936-44979036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44971866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 117
(Y117H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023344]
[ENSMUST00000114600]
[ENSMUST00000180636]
[ENSMUST00000181177]
[ENSMUST00000181750]
|
| AlphaFold |
Q921R7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023344
AA Change: Y117H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023344
Gene: ENSMUSG00000022664
AA Change: Y117H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nuc_sug_transp
|
28 |
387 |
1.3e-54 |
PFAM |
|
low complexity region
|
424 |
437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114600
AA Change: Y133H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110247
Gene: ENSMUSG00000022664
AA Change: Y133H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
Pfam:Nuc_sug_transp
|
107 |
155 |
1.6e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152364
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180636
AA Change: Y117H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137821
Gene: ENSMUSG00000022664
AA Change: Y117H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
30 |
196 |
5.2e-8 |
PFAM |
|
Pfam:TPT
|
31 |
177 |
3.3e-7 |
PFAM |
|
Pfam:EamA
|
73 |
179 |
1.2e-7 |
PFAM |
|
Pfam:Nuc_sug_transp
|
91 |
222 |
7.5e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181177
|
| SMART Domains |
Protein: ENSMUSP00000137789
Gene: ENSMUSG00000022664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nuc_sug_transp
|
30 |
94 |
1.1e-12 |
PFAM |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181437
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181750
|
| SMART Domains |
Protein: ENSMUSP00000137937
Gene: ENSMUSG00000022664
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
36 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein which belongs to subfamily 35A of the solute carrier superfamily. The encoded protein is a nucleoside-sugar transporter. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4) |
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,649 (GRCm39) |
Y469N |
probably benign |
Het |
| Actl11 |
T |
C |
9: 107,805,964 (GRCm39) |
S96P |
possibly damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,363,198 (GRCm39) |
|
probably null |
Het |
| Apobec4 |
T |
A |
1: 152,632,017 (GRCm39) |
I15K |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,090,401 (GRCm39) |
D1039E |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,498,769 (GRCm39) |
G175R |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,763,171 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
G |
A |
9: 44,418,121 (GRCm39) |
R653H |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,958,669 (GRCm39) |
I144L |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 104,875,154 (GRCm39) |
T312I |
possibly damaging |
Het |
| Cdh23 |
C |
T |
10: 60,220,848 (GRCm39) |
V1297I |
possibly damaging |
Het |
| Cfap57 |
T |
C |
4: 118,467,792 (GRCm39) |
Y315C |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,442,044 (GRCm39) |
|
probably benign |
Het |
| Cog5 |
A |
G |
12: 31,944,095 (GRCm39) |
D660G |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,196,945 (GRCm39) |
I332T |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,103,288 (GRCm39) |
T225A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,490 (GRCm39) |
L310P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 36,977,025 (GRCm39) |
N695S |
probably damaging |
Het |
| Gas7 |
T |
A |
11: 67,543,740 (GRCm39) |
|
probably null |
Het |
| Gm21286 |
T |
C |
4: 60,794,323 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4799 |
C |
T |
10: 82,790,518 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac4 |
T |
C |
1: 91,887,196 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
T |
A |
12: 73,987,307 (GRCm39) |
S467T |
probably benign |
Het |
| Ier5 |
A |
G |
1: 154,974,296 (GRCm39) |
V294A |
probably damaging |
Het |
| Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
| Itga9 |
T |
C |
9: 118,436,191 (GRCm39) |
|
probably benign |
Het |
| Lbx1 |
G |
T |
19: 45,222,670 (GRCm39) |
Q118K |
probably benign |
Het |
| Lta |
A |
T |
17: 35,423,061 (GRCm39) |
|
probably null |
Het |
| Matr3 |
A |
G |
18: 35,721,442 (GRCm39) |
Y471C |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,178,905 (GRCm39) |
|
probably benign |
Het |
| Or4c103 |
C |
T |
2: 88,513,575 (GRCm39) |
C167Y |
probably damaging |
Het |
| Or4k51 |
T |
C |
2: 111,584,848 (GRCm39) |
F85L |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,948 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5l13 |
G |
T |
2: 87,780,207 (GRCm39) |
F123L |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,901,247 (GRCm39) |
K299R |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,205,736 (GRCm39) |
E574G |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,843,386 (GRCm39) |
Q1858* |
probably null |
Het |
| Prkca |
T |
C |
11: 107,905,148 (GRCm39) |
K197E |
possibly damaging |
Het |
| Psmc6 |
C |
A |
14: 45,581,124 (GRCm39) |
Q307K |
probably benign |
Het |
| Rasa1 |
T |
C |
13: 85,406,561 (GRCm39) |
I181V |
probably benign |
Het |
| Scel |
A |
G |
14: 103,845,530 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
T |
9: 119,363,770 (GRCm39) |
S457T |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,232,374 (GRCm39) |
T216A |
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 57,205,974 (GRCm39) |
V19A |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 55,550,546 (GRCm39) |
T81A |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,114,196 (GRCm39) |
V569A |
probably benign |
Het |
| Sqle |
A |
G |
15: 59,195,723 (GRCm39) |
Y333C |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,068,552 (GRCm39) |
E3078G |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,360,919 (GRCm39) |
I2737N |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,346,620 (GRCm39) |
Y1272* |
probably null |
Het |
| Tnr |
G |
T |
1: 159,724,594 (GRCm39) |
R1095L |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,862 (GRCm39) |
S203P |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,477,301 (GRCm39) |
L370P |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,393,404 (GRCm39) |
H559R |
probably benign |
Het |
|
| Other mutations in Slc35a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Slc35a5
|
APN |
16 |
44,972,971 (GRCm39) |
nonsense |
probably null |
|
|
IGL01012:Slc35a5
|
APN |
16 |
44,964,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03293:Slc35a5
|
APN |
16 |
44,964,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Slc35a5
|
UTSW |
16 |
44,964,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1532:Slc35a5
|
UTSW |
16 |
44,971,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1561:Slc35a5
|
UTSW |
16 |
44,971,884 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1864:Slc35a5
|
UTSW |
16 |
44,964,071 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2086:Slc35a5
|
UTSW |
16 |
44,964,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2887:Slc35a5
|
UTSW |
16 |
44,971,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2888:Slc35a5
|
UTSW |
16 |
44,971,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2889:Slc35a5
|
UTSW |
16 |
44,971,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2890:Slc35a5
|
UTSW |
16 |
44,971,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3080:Slc35a5
|
UTSW |
16 |
44,964,758 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3434:Slc35a5
|
UTSW |
16 |
44,964,396 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3720:Slc35a5
|
UTSW |
16 |
44,967,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3722:Slc35a5
|
UTSW |
16 |
44,967,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3916:Slc35a5
|
UTSW |
16 |
44,978,521 (GRCm39) |
intron |
probably benign |
|
|
R3917:Slc35a5
|
UTSW |
16 |
44,978,521 (GRCm39) |
intron |
probably benign |
|
|
R4616:Slc35a5
|
UTSW |
16 |
44,964,655 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6648:Slc35a5
|
UTSW |
16 |
44,964,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6881:Slc35a5
|
UTSW |
16 |
44,964,443 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7730:Slc35a5
|
UTSW |
16 |
44,964,246 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7832:Slc35a5
|
UTSW |
16 |
44,964,570 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8113:Slc35a5
|
UTSW |
16 |
44,962,551 (GRCm39) |
missense |
unknown |
|
|
R8726:Slc35a5
|
UTSW |
16 |
44,964,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9478:Slc35a5
|
UTSW |
16 |
44,964,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9714:Slc35a5
|
UTSW |
16 |
44,964,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Slc35a5
|
UTSW |
16 |
44,972,939 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation