Incidental Mutation 'R3434:Slc35a5'
ID |
266366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35a5
|
Ensembl Gene |
ENSMUSG00000022664 |
Gene Name |
solute carrier family 35, member A5 |
Synonyms |
1010001J06Rik, D730043G07Rik, D16Ertd450e |
MMRRC Submission |
040652-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
R3434 (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 44964396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 279
(I279T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023344]
[ENSMUST00000114600]
[ENSMUST00000180636]
[ENSMUST00000181177]
|
AlphaFold |
Q921R7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023344
AA Change: I279T
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000023344 Gene: ENSMUSG00000022664 AA Change: I279T
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 benign
Transcript: ENSMUST00000114600
|
SMART Domains |
Protein: ENSMUSP00000110247 Gene: ENSMUSG00000022664
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 benign
Transcript: ENSMUST00000180636
|
SMART Domains |
Protein: ENSMUSP00000137821 Gene: ENSMUSG00000022664
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 |
|
Meta Mutation Damage Score |
0.2837 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
98% (54/55) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
A |
17: 24,508,511 (GRCm39) |
A1008V |
probably damaging |
Het |
Adora3 |
A |
G |
3: 105,812,231 (GRCm39) |
K39R |
probably benign |
Het |
Ankib1 |
A |
G |
5: 3,742,760 (GRCm39) |
V1085A |
probably damaging |
Het |
Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
Azin1 |
T |
C |
15: 38,493,820 (GRCm39) |
I268V |
probably benign |
Het |
Carm1 |
T |
C |
9: 21,480,769 (GRCm39) |
F81S |
probably damaging |
Het |
Ccnjl |
A |
G |
11: 43,470,688 (GRCm39) |
Y152C |
probably damaging |
Het |
Chrna3 |
T |
A |
9: 54,931,610 (GRCm39) |
I61F |
possibly damaging |
Het |
Clca3a2 |
G |
A |
3: 144,514,522 (GRCm39) |
|
probably benign |
Het |
Clstn2 |
T |
A |
9: 97,336,768 (GRCm39) |
D903V |
probably benign |
Het |
Dpysl3 |
C |
T |
18: 43,494,126 (GRCm39) |
V70I |
probably benign |
Het |
Drg2 |
A |
T |
11: 60,352,218 (GRCm39) |
K180* |
probably null |
Het |
Dync2h1 |
A |
C |
9: 7,011,236 (GRCm39) |
H3659Q |
probably benign |
Het |
Dysf |
A |
T |
6: 84,047,870 (GRCm39) |
Y349F |
probably benign |
Het |
Epb41l4b |
T |
C |
4: 57,040,865 (GRCm39) |
N533D |
probably benign |
Het |
Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
Fasn |
G |
A |
11: 120,713,599 (GRCm39) |
A24V |
probably damaging |
Het |
Fhl4 |
T |
C |
10: 84,934,308 (GRCm39) |
T158A |
probably benign |
Het |
Fnbp1l |
C |
T |
3: 122,339,955 (GRCm39) |
R499Q |
probably damaging |
Het |
Hdlbp |
A |
T |
1: 93,355,883 (GRCm39) |
M358K |
probably benign |
Het |
Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
Lhx4 |
A |
G |
1: 155,578,147 (GRCm39) |
Y332H |
probably damaging |
Het |
Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
Mrps23 |
A |
G |
11: 88,100,940 (GRCm39) |
K44E |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
Or2ag13 |
A |
T |
7: 106,472,976 (GRCm39) |
Y159N |
probably benign |
Het |
Or4a67 |
T |
C |
2: 88,598,413 (GRCm39) |
D82G |
probably damaging |
Het |
Or5w11 |
T |
C |
2: 87,459,418 (GRCm39) |
F204L |
probably benign |
Het |
P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
Phykpl |
A |
G |
11: 51,489,482 (GRCm39) |
T363A |
probably benign |
Het |
Pitpnm1 |
G |
A |
19: 4,162,234 (GRCm39) |
A1047T |
probably damaging |
Het |
Ppat |
A |
G |
5: 77,065,912 (GRCm39) |
I402T |
probably damaging |
Het |
Rpgr |
A |
G |
X: 10,042,841 (GRCm39) |
S656P |
probably benign |
Het |
Rsbn1l |
T |
C |
5: 21,110,928 (GRCm39) |
|
probably benign |
Het |
Sacs |
A |
G |
14: 61,449,752 (GRCm39) |
K3933E |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,505,847 (GRCm39) |
I1681V |
probably benign |
Het |
Sel1l3 |
T |
C |
5: 53,274,432 (GRCm39) |
D1016G |
probably benign |
Het |
Sf3a3 |
C |
A |
4: 124,618,870 (GRCm39) |
T277N |
possibly damaging |
Het |
Slc39a10 |
T |
C |
1: 46,874,877 (GRCm39) |
T142A |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,321,376 (GRCm39) |
|
probably null |
Het |
Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,698,721 (GRCm39) |
T5A |
possibly damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,708,381 (GRCm39) |
|
probably null |
Het |
Ush2a |
C |
T |
1: 188,465,955 (GRCm39) |
P2841L |
probably damaging |
Het |
Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
probably benign |
Het |
Vmn2r91 |
A |
T |
17: 18,330,370 (GRCm39) |
|
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 |
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 |
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'- CTGGGCCATCAAGACATGAAAC -3'
(R):5'- ATTGTACATCGAAGGAGTGGAC -3'
Sequencing Primer
(F):5'- TAAAAGCCACTGAAAGGCC -3'
(R):5'- CTTTCAGTGAAGTCCAGTGGAAC -3'
|
Posted On |
2015-02-18 |