Incidental Mutation 'R2888:Slc35a5'
ID |
260012 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35a5
|
Ensembl Gene |
ENSMUSG00000022664 |
Gene Name |
solute carrier family 35, member A5 |
Synonyms |
1010001J06Rik, D730043G07Rik, D16Ertd450e |
MMRRC Submission |
040476-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
R2888 (G1)
|
Quality Score |
225 |
Status
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (39/39) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
Acd |
A |
G |
8: 106,425,470 (GRCm39) |
S288P |
probably benign |
Het |
Aimp2 |
T |
C |
5: 143,846,553 (GRCm39) |
|
probably benign |
Het |
Atp8b2 |
T |
C |
3: 89,865,600 (GRCm39) |
D100G |
probably damaging |
Het |
Cacna1i |
A |
T |
15: 80,258,968 (GRCm39) |
I1226F |
probably damaging |
Het |
Dsp |
C |
A |
13: 38,376,224 (GRCm39) |
N1336K |
possibly damaging |
Het |
Extl2 |
T |
C |
3: 115,820,906 (GRCm39) |
F251S |
probably damaging |
Het |
Gusb |
T |
C |
5: 130,029,343 (GRCm39) |
H146R |
probably damaging |
Het |
Itpr2 |
C |
T |
6: 146,072,791 (GRCm39) |
G2380S |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,763,764 (GRCm39) |
K762E |
probably benign |
Het |
Krtap4-9 |
C |
A |
11: 99,676,245 (GRCm39) |
C55* |
probably null |
Het |
Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
Llcfc1 |
A |
T |
6: 41,661,537 (GRCm39) |
K29M |
probably damaging |
Het |
Malrd1 |
A |
T |
2: 16,079,568 (GRCm39) |
I1762F |
unknown |
Het |
Muc5b |
G |
A |
7: 141,415,291 (GRCm39) |
V2746M |
probably damaging |
Het |
Mug1 |
T |
A |
6: 121,858,802 (GRCm39) |
D1173E |
probably benign |
Het |
Myo5b |
G |
C |
18: 74,895,689 (GRCm39) |
E1782Q |
probably damaging |
Het |
Or2t46 |
T |
C |
11: 58,471,988 (GRCm39) |
F106S |
possibly damaging |
Het |
Pcdha5 |
A |
G |
18: 37,094,940 (GRCm39) |
D483G |
probably damaging |
Het |
Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,897,251 (GRCm39) |
S103C |
probably damaging |
Het |
Plekha4 |
C |
T |
7: 45,187,668 (GRCm39) |
R176C |
probably damaging |
Het |
Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
Pramel23 |
G |
T |
4: 143,423,460 (GRCm39) |
T443K |
probably benign |
Het |
Prol1 |
C |
A |
5: 88,476,168 (GRCm39) |
A186E |
unknown |
Het |
Rbm39 |
C |
T |
2: 156,009,503 (GRCm39) |
R123H |
probably benign |
Het |
Rtn4 |
T |
C |
11: 29,643,687 (GRCm39) |
S167P |
probably damaging |
Het |
Smoc2 |
T |
C |
17: 14,617,887 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
A |
G |
19: 4,798,664 (GRCm39) |
T1998A |
possibly damaging |
Het |
Tbc1d5 |
T |
A |
17: 51,242,577 (GRCm39) |
E173D |
probably damaging |
Het |
Tsc2 |
A |
G |
17: 24,850,969 (GRCm39) |
|
probably null |
Het |
Umps |
A |
T |
16: 33,784,240 (GRCm39) |
V71E |
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 |
Zfp511 |
A |
C |
7: 139,619,295 (GRCm39) |
D204A |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAAGTCAGTATTCAGGTGGC -3'
(R):5'- CAGAGGCAATTTAATAAAGCCCAG -3'
Sequencing Primer
(F):5'- CAAGTCAGTATTCAGGTGGCTCTAG -3'
(R):5'- GCAATTTAATAAAGCCCAGCTAATAG -3'
|
Posted On |
2015-01-23 |