Incidental Mutation 'R7217:Slc35b2'
| ID |
561557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35b2
|
| Ensembl Gene |
ENSMUSG00000037089 |
| Gene Name |
solute carrier family 35, member B2 |
| Synonyms |
PAPST1, 1110003M08Rik |
| MMRRC Submission |
045289-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
R7217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45874844-45878597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45875955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 55
(T55A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024739]
[ENSMUST00000024742]
[ENSMUST00000041353]
[ENSMUST00000165127]
[ENSMUST00000166469]
[ENSMUST00000223987]
[ENSMUST00000224905]
[ENSMUST00000226086]
|
| 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 benign
Transcript: ENSMUST00000041353
AA Change: T55A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089
AA Change: T55A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
62 |
363 |
5.1e-79 |
PFAM |
|
| 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: ENSMUST00000166469
|
| SMART Domains |
Protein: ENSMUSP00000127338
Gene: ENSMUSG00000023944
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP90
|
4 |
189 |
1.3e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223987
AA Change: T55A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224905
AA Change: T104A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226086
AA Change: T104A
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
91% (40/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
C |
A |
5: 138,645,188 (GRCm39) |
H358N |
probably benign |
Het |
| Abcg3 |
A |
G |
5: 105,087,094 (GRCm39) |
F543L |
possibly damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,387,352 (GRCm39) |
T92A |
probably damaging |
Het |
| Atg2a |
G |
T |
19: 6,303,471 (GRCm39) |
|
probably null |
Het |
| Aven |
T |
A |
2: 112,461,191 (GRCm39) |
N327K |
possibly damaging |
Het |
| Brd9 |
T |
C |
13: 74,087,063 (GRCm39) |
V116A |
probably damaging |
Het |
| Car14 |
A |
G |
3: 95,806,629 (GRCm39) |
S250P |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,345,422 (GRCm39) |
I138T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,938 (GRCm39) |
Y2717H |
probably damaging |
Het |
| Eno1b |
C |
A |
18: 48,180,746 (GRCm39) |
T308K |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,372,857 (GRCm39) |
T949A |
probably benign |
Het |
| Fcrl5 |
C |
T |
3: 87,351,081 (GRCm39) |
T197M |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,416,023 (GRCm39) |
Q664L |
unknown |
Het |
| Fsip2 |
A |
T |
2: 82,819,412 (GRCm39) |
K5048N |
possibly damaging |
Het |
| Gcnt4 |
T |
C |
13: 97,082,818 (GRCm39) |
L38P |
probably damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,058 (GRCm39) |
V162A |
possibly damaging |
Het |
| Grin3a |
A |
T |
4: 49,770,741 (GRCm39) |
M677K |
possibly damaging |
Het |
| Grm7 |
A |
G |
6: 111,335,785 (GRCm39) |
Y732C |
probably damaging |
Het |
| H2-T15 |
A |
C |
17: 36,367,235 (GRCm39) |
M329R |
probably benign |
Het |
| Hoxb4 |
A |
G |
11: 96,209,906 (GRCm39) |
E104G |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,182,390 (GRCm39) |
S237P |
possibly damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
| Kif20a |
T |
A |
18: 34,762,613 (GRCm39) |
H495Q |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,071,668 (GRCm39) |
T852S |
|
Het |
| Mep1b |
T |
A |
18: 21,226,600 (GRCm39) |
D487E |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,305,911 (GRCm39) |
T656A |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,313,481 (GRCm39) |
W902R |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,555,372 (GRCm39) |
Y3640* |
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,722,536 (GRCm39) |
I2424T |
probably benign |
Het |
| Prl8a2 |
A |
G |
13: 27,534,998 (GRCm39) |
E91G |
possibly damaging |
Het |
| Prpf18 |
A |
G |
2: 4,650,435 (GRCm39) |
V65A |
probably benign |
Het |
| Pxmp2 |
A |
G |
5: 110,433,771 (GRCm39) |
V34A |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,287,839 (GRCm39) |
Y36D |
probably damaging |
Het |
| Rbm25 |
G |
A |
12: 83,710,991 (GRCm39) |
R368Q |
unknown |
Het |
| Rims2 |
C |
A |
15: 39,339,885 (GRCm39) |
L860M |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,868,108 (GRCm39) |
M318L |
probably benign |
Het |
| Trnp1 |
T |
C |
4: 133,225,416 (GRCm39) |
E118G |
possibly damaging |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,049,785 (GRCm39) |
H1680Q |
probably damaging |
Het |
| Zfp131 |
A |
G |
13: 120,237,377 (GRCm39) |
I327T |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,743,367 (GRCm39) |
V66A |
probably damaging |
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 |
|
R5314: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 |
|
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'- GTAAGTCAGACACCGGATCG -3'
(R):5'- CATGCGTGTGTACAGTGAAC -3'
Sequencing Primer
(F):5'- GATCGGGCTGGCTGCTC -3'
(R):5'- AAGCGCTGGAAGTTCACTTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation