Incidental Mutation 'R2889:Slc35a5'
| ID |
260042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35a5
|
| Ensembl Gene |
ENSMUSG00000022664 |
| Gene Name |
solute carrier family 35, member A5 |
| Synonyms |
1010001J06Rik, D730043G07Rik, D16Ertd450e |
| MMRRC Submission |
040477-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R2889 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
44959936-44979036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44971923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 114
(C114R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023344]
[ENSMUST00000114600]
[ENSMUST00000180636]
[ENSMUST00000181177]
[ENSMUST00000181750]
|
| AlphaFold |
Q921R7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023344
AA Change: C98R
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023344
Gene: ENSMUSG00000022664
AA Change: C98R
| 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: C114R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110247
Gene: ENSMUSG00000022664
AA Change: C114R
| 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: C98R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137821
Gene: ENSMUSG00000022664
AA Change: C98R
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
| Adam28 |
A |
T |
14: 68,872,294 (GRCm39) |
M316K |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Ankrd6 |
C |
A |
4: 32,818,704 (GRCm39) |
L207F |
probably damaging |
Het |
| Aurka |
A |
G |
2: 172,209,040 (GRCm39) |
S54P |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,836,165 (GRCm39) |
K725R |
probably benign |
Het |
| Kcnq5 |
T |
A |
1: 21,472,526 (GRCm39) |
D879V |
probably damaging |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Msantd3 |
T |
C |
4: 48,552,494 (GRCm39) |
Y28H |
possibly damaging |
Het |
| Npr2 |
T |
C |
4: 43,641,600 (GRCm39) |
I468T |
probably benign |
Het |
| Or5p56 |
A |
T |
7: 107,589,784 (GRCm39) |
I71F |
probably benign |
Het |
| Or6z3 |
T |
A |
7: 6,463,940 (GRCm39) |
V144D |
probably damaging |
Het |
| Pcdhb9 |
G |
T |
18: 37,536,276 (GRCm39) |
V757F |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,906,995 (GRCm39) |
H5000N |
unknown |
Het |
| Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
| Pmfbp1 |
T |
C |
8: 110,252,063 (GRCm39) |
Y403H |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Rsrc2 |
A |
T |
5: 123,874,620 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,778,166 (GRCm39) |
D2110G |
possibly damaging |
Het |
| Son |
T |
C |
16: 91,456,787 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,630,699 (GRCm39) |
T1067I |
probably damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,862 (GRCm39) |
L218P |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,831,476 (GRCm39) |
E917* |
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,302,260 (GRCm39) |
K1908R |
possibly damaging |
Het |
| Zfp189 |
A |
G |
4: 49,521,547 (GRCm39) |
|
probably benign |
Het |
| Zfy1 |
G |
A |
Y: 726,307 (GRCm39) |
T486I |
possibly damaging |
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 |
|
IGL01396:Slc35a5
|
APN |
16 |
44,971,866 (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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGCAAGTCAGTATTCAGG -3'
(R):5'- AGGCAATTTAATAAAGCCCAGC -3'
Sequencing Primer
(F):5'- CAAGTCAGTATTCAGGTGGCTC -3'
(R):5'- GCAATTTAATAAAGCCCAGCTAATAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation