Incidental Mutation 'R5314:Slc35b2'
| ID |
405769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35b2
|
| Ensembl Gene |
ENSMUSG00000037089 |
| Gene Name |
solute carrier family 35, member B2 |
| Synonyms |
PAPST1, 1110003M08Rik |
| MMRRC Submission |
042897-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
R5314 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
45874844-45878597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45877424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 184
(Y184H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024739]
[ENSMUST00000024742]
[ENSMUST00000041353]
[ENSMUST00000163966]
[ENSMUST00000223987]
[ENSMUST00000224905]
[ENSMUST00000165127]
[ENSMUST00000226086]
[ENSMUST00000166469]
|
| AlphaFold |
Q91ZN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024739
|
| SMART Domains |
Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
HATPase_c
|
35 |
189 |
3.82e-10 |
SMART |
|
Pfam:HSP90
|
191 |
719 |
5.4e-246 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024742
|
| SMART Domains |
Protein: ENSMUSP00000024742
Gene: ENSMUSG00000023947
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
110 |
N/A |
INTRINSIC |
|
ANK
|
122 |
152 |
1.14e2 |
SMART |
|
ANK
|
157 |
187 |
2.15e0 |
SMART |
|
ANK
|
190 |
219 |
6.81e-3 |
SMART |
|
ANK
|
233 |
262 |
5.09e-2 |
SMART |
|
ANK
|
267 |
296 |
1.12e-3 |
SMART |
|
ANK
|
300 |
329 |
1e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041353
AA Change: Y135H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089
AA Change: Y135H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
62 |
363 |
5.1e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163966
|
| SMART Domains |
Protein: ENSMUSP00000131601
Gene: ENSMUSG00000023944
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1byqa_
|
9 |
85 |
9e-40 |
SMART |
|
PDB:1UYM|A
|
14 |
85 |
3e-45 |
PDB |
|
Blast:HATPase_c
|
35 |
85 |
9e-29 |
BLAST |
|
low complexity region
|
93 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223987
AA Change: Y135H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224905
AA Change: Y184H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165127
|
| SMART Domains |
Protein: ENSMUSP00000126239
Gene: ENSMUSG00000023944
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
Pfam:HSP90
|
37 |
161 |
3.8e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226086
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166469
|
| SMART Domains |
Protein: ENSMUSP00000127338
Gene: ENSMUSG00000023944
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP90
|
4 |
189 |
1.3e-92 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
T |
C |
3: 121,473,172 (GRCm39) |
F109S |
unknown |
Het |
| Ankhd1 |
A |
T |
18: 36,694,111 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
C |
T |
5: 67,863,248 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
G |
T |
6: 29,417,497 (GRCm39) |
V707F |
probably benign |
Het |
| Ccdc157 |
A |
T |
11: 4,100,078 (GRCm39) |
C91* |
probably null |
Het |
| Ceacam3 |
T |
A |
7: 16,892,296 (GRCm39) |
N346K |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,626 (GRCm39) |
D1196G |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,077,551 (GRCm39) |
E74G |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,192,892 (GRCm39) |
M665V |
probably benign |
Het |
| Crtc2 |
C |
T |
3: 90,168,348 (GRCm39) |
Q364* |
probably null |
Het |
| Csf1r |
T |
A |
18: 61,262,796 (GRCm39) |
I857N |
probably damaging |
Het |
| Dner |
C |
T |
1: 84,558,460 (GRCm39) |
G168D |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,443,182 (GRCm39) |
T315A |
probably benign |
Het |
| Egflam |
A |
G |
15: 7,333,493 (GRCm39) |
V153A |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,211,682 (GRCm39) |
I193T |
possibly damaging |
Het |
| Epc1 |
A |
G |
18: 6,462,969 (GRCm39) |
I9T |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,522,246 (GRCm39) |
I208F |
possibly damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,364 (GRCm39) |
V243A |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,869,534 (GRCm39) |
V4297A |
probably damaging |
Het |
| Itsn2 |
C |
T |
12: 4,677,960 (GRCm39) |
P106S |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,352,486 (GRCm39) |
T218A |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,946,220 (GRCm39) |
S1677P |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,526 (GRCm39) |
M293K |
probably damaging |
Het |
| Meis3 |
T |
A |
7: 15,917,989 (GRCm39) |
V307E |
probably damaging |
Het |
| Nadk2 |
A |
C |
15: 9,108,401 (GRCm39) |
I417L |
probably benign |
Het |
| Nav2 |
AAGCAGCAGCAGCAGCAGCAGCAGCA |
AAGCAGCAGCAGCAGCAGCAGCA |
7: 49,058,440 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,171,515 (GRCm39) |
N1659K |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,630 (GRCm39) |
V274A |
probably benign |
Het |
| Or8g32 |
T |
C |
9: 39,305,785 (GRCm39) |
S233P |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pde3b |
A |
T |
7: 114,093,772 (GRCm39) |
N339Y |
probably damaging |
Het |
| Pde8b |
A |
G |
13: 95,223,361 (GRCm39) |
F298L |
possibly damaging |
Het |
| Phtf1 |
G |
A |
3: 103,906,603 (GRCm39) |
R606H |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,290,528 (GRCm39) |
D535G |
possibly damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,905,121 (GRCm39) |
V130A |
probably damaging |
Het |
| Rbm11 |
T |
C |
16: 75,393,474 (GRCm39) |
F57L |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,671,401 (GRCm39) |
V1334A |
possibly damaging |
Het |
| Satb2 |
T |
C |
1: 56,870,686 (GRCm39) |
E433G |
probably damaging |
Het |
| Sema6b |
G |
A |
17: 56,435,413 (GRCm39) |
R277* |
probably null |
Het |
| Sepsecs |
A |
T |
5: 52,805,015 (GRCm39) |
S349T |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,368,067 (GRCm39) |
|
probably null |
Het |
| Smc1b |
T |
A |
15: 84,955,066 (GRCm39) |
Y1062F |
probably benign |
Het |
| Snrnp70 |
G |
A |
7: 45,026,476 (GRCm39) |
R298* |
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Taar8c |
A |
T |
10: 23,977,246 (GRCm39) |
C189S |
probably damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,382,672 (GRCm39) |
D103E |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,568,087 (GRCm39) |
I236V |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,208,407 (GRCm39) |
V316A |
probably damaging |
Het |
| Treml2 |
T |
A |
17: 48,607,601 (GRCm39) |
L16Q |
probably damaging |
Het |
| Zcchc14 |
G |
A |
8: 122,335,337 (GRCm39) |
|
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,013,178 (GRCm39) |
Y567H |
probably damaging |
Het |
| Zfp551 |
G |
A |
7: 12,150,087 (GRCm39) |
R441* |
probably null |
Het |
| Zfp930 |
A |
G |
8: 69,679,373 (GRCm39) |
I59M |
probably benign |
Het |
|
| Other mutations in Slc35b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Slc35b2
|
APN |
17 |
45,875,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02749:Slc35b2
|
APN |
17 |
45,877,493 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02951:Slc35b2
|
APN |
17 |
45,875,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03382:Slc35b2
|
APN |
17 |
45,877,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0020:Slc35b2
|
UTSW |
17 |
45,877,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0368:Slc35b2
|
UTSW |
17 |
45,877,389 (GRCm39) |
missense |
probably benign |
|
|
R0743:Slc35b2
|
UTSW |
17 |
45,877,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0884:Slc35b2
|
UTSW |
17 |
45,877,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2293:Slc35b2
|
UTSW |
17 |
45,878,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3894:Slc35b2
|
UTSW |
17 |
45,877,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4372:Slc35b2
|
UTSW |
17 |
45,877,355 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4415:Slc35b2
|
UTSW |
17 |
45,877,355 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4416:Slc35b2
|
UTSW |
17 |
45,877,355 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4417:Slc35b2
|
UTSW |
17 |
45,877,355 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5291:Slc35b2
|
UTSW |
17 |
45,877,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Slc35b2
|
UTSW |
17 |
45,877,587 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6178:Slc35b2
|
UTSW |
17 |
45,877,302 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7217:Slc35b2
|
UTSW |
17 |
45,875,955 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7561:Slc35b2
|
UTSW |
17 |
45,877,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8823:Slc35b2
|
UTSW |
17 |
45,877,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Slc35b2
|
UTSW |
17 |
45,877,673 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9401:Slc35b2
|
UTSW |
17 |
45,877,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTATCTGACTTGGGGCATAC -3'
(R):5'- GAAGAAACATGCTCACTCCAATGG -3'
Sequencing Primer
(F):5'- CATACTGCAGGAAAGAGTGATGACTG -3'
(R):5'- AGGCCGGCAGTCAGGTATTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation