Incidental Mutation 'R1561:Slc35a5'
| ID |
170635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35a5
|
| Ensembl Gene |
ENSMUSG00000022664 |
| Gene Name |
solute carrier family 35, member A5 |
| Synonyms |
1010001J06Rik, D730043G07Rik, D16Ertd450e |
| MMRRC Submission |
039600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R1561 (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 C
at 44971884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 127
(S127A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023344]
[ENSMUST00000114600]
[ENSMUST00000180636]
[ENSMUST00000181177]
[ENSMUST00000181750]
|
| AlphaFold |
Q921R7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023344
AA Change: S111A
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023344
Gene: ENSMUSG00000022664
AA Change: S111A
| 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 |
possibly damaging
Transcript: ENSMUST00000114600
AA Change: S127A
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110247
Gene: ENSMUSG00000022664
AA Change: S127A
| 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
AA Change: S111A
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000137821
Gene: ENSMUSG00000022664
AA Change: S111A
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,431 (GRCm39) |
N69D |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
| Ap1g2 |
T |
C |
14: 55,342,344 (GRCm39) |
E171G |
probably damaging |
Het |
| Atg7 |
T |
C |
6: 114,678,133 (GRCm39) |
V341A |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,750,492 (GRCm39) |
R56L |
probably benign |
Het |
| Cd200l1 |
A |
G |
16: 45,262,875 (GRCm39) |
V88A |
possibly damaging |
Het |
| Chfr |
A |
T |
5: 110,306,674 (GRCm39) |
D472V |
probably benign |
Het |
| Ckap2l |
G |
A |
2: 129,112,645 (GRCm39) |
T621I |
probably benign |
Het |
| Cmip |
A |
G |
8: 118,180,589 (GRCm39) |
T554A |
probably benign |
Het |
| Crocc |
C |
T |
4: 140,757,579 (GRCm39) |
E905K |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,014,472 (GRCm39) |
S581* |
probably null |
Het |
| Fam227a |
T |
A |
15: 79,520,963 (GRCm39) |
Y291F |
possibly damaging |
Het |
| Gpr151 |
A |
T |
18: 42,712,221 (GRCm39) |
S152R |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,820,505 (GRCm39) |
|
probably null |
Het |
| Kcna5 |
T |
C |
6: 126,511,546 (GRCm39) |
Y194C |
probably damaging |
Het |
| Khsrp |
A |
G |
17: 57,332,639 (GRCm39) |
S214P |
probably benign |
Het |
| Mrgprb1 |
C |
G |
7: 48,096,873 (GRCm39) |
|
probably null |
Het |
| Mrnip |
C |
T |
11: 50,067,676 (GRCm39) |
T30I |
probably damaging |
Het |
| Mtus2 |
A |
C |
5: 148,013,362 (GRCm39) |
K52Q |
probably benign |
Het |
| Naca |
G |
T |
10: 127,876,267 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
G |
11: 58,926,899 (GRCm39) |
T5539P |
probably damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,751 (GRCm39) |
I49N |
probably damaging |
Het |
| Or9m1 |
C |
T |
2: 87,733,505 (GRCm39) |
V172I |
probably benign |
Het |
| Ovca2 |
A |
G |
11: 75,068,805 (GRCm39) |
L198P |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,518 (GRCm39) |
V308A |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,341,445 (GRCm39) |
I99M |
unknown |
Het |
| Polr3b |
T |
A |
10: 84,470,776 (GRCm39) |
M139K |
probably damaging |
Het |
| Prkag2 |
T |
C |
5: 25,076,593 (GRCm39) |
Y191C |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,194,062 (GRCm39) |
C278S |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,247,536 (GRCm39) |
T600A |
probably damaging |
Het |
| Ruvbl1 |
T |
C |
6: 88,456,136 (GRCm39) |
V70A |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,129,217 (GRCm39) |
V726A |
probably benign |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,516,451 (GRCm39) |
N603S |
probably benign |
Het |
| Slc2a1 |
A |
G |
4: 118,993,606 (GRCm39) |
E481G |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,199,694 (GRCm39) |
G2978* |
probably null |
Het |
| Srrt |
T |
A |
5: 137,298,281 (GRCm39) |
E297V |
probably benign |
Het |
| Srsf4 |
T |
A |
4: 131,625,006 (GRCm39) |
D134E |
probably damaging |
Het |
| Tdrd6 |
G |
A |
17: 43,936,515 (GRCm39) |
S1511L |
probably damaging |
Het |
| Tmem65 |
T |
A |
15: 58,694,707 (GRCm39) |
I91F |
probably benign |
Het |
| Top2b |
A |
G |
14: 16,398,993 (GRCm38) |
K538E |
possibly damaging |
Het |
| Trappc8 |
G |
A |
18: 20,974,680 (GRCm39) |
R883* |
probably null |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Vav3 |
T |
C |
3: 109,402,154 (GRCm39) |
|
probably null |
Het |
| Vmn1r42 |
C |
T |
6: 89,822,363 (GRCm39) |
G69S |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,379,100 (GRCm39) |
Y5333* |
probably null |
Het |
| Zfp994 |
A |
C |
17: 22,420,206 (GRCm39) |
F248V |
probably 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAGTCAGTATTCAGGTGGCTC -3'
(R):5'- TTGTTCATGACACACAGGTGGGG -3'
Sequencing Primer
(F):5'- ATTCAGGTGGCTCTAGCCAAG -3'
(R):5'- CCTGAAGTCACTTACAGAGGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation