Incidental Mutation 'R4399:Slc35b3'
| ID |
325646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35b3
|
| Ensembl Gene |
ENSMUSG00000021432 |
| Gene Name |
solute carrier family 35, member B3 |
| Synonyms |
PAPST2, 4921526O06Rik |
| MMRRC Submission |
041686-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.635)
|
| Stock # |
R4399 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
39116112-39144851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39121791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 73
(F73L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021870]
[ENSMUST00000167513]
[ENSMUST00000224429]
[ENSMUST00000224645]
[ENSMUST00000225396]
[ENSMUST00000225432]
[ENSMUST00000225568]
[ENSMUST00000225461]
[ENSMUST00000225714]
|
| AlphaFold |
Q922Q5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021870
AA Change: F281L
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021870
Gene: ENSMUSG00000021432
AA Change: F281L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
Pfam:UAA
|
92 |
383 |
3.5e-95 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167513
AA Change: F237L
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126016
Gene: ENSMUSG00000021432
AA Change: F237L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
49 |
343 |
4e-98 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224429
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224645
AA Change: F64L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225396
AA Change: F73L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225432
AA Change: F237L
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225568
AA Change: F139L
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225461
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225714
|
| Meta Mutation Damage Score |
0.3927 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,827,211 (GRCm39) |
T1466A |
possibly damaging |
Het |
| Abcc6 |
T |
C |
7: 45,652,031 (GRCm39) |
N612S |
probably benign |
Het |
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| Cep152 |
G |
A |
2: 125,429,900 (GRCm39) |
A674V |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,807,238 (GRCm39) |
H1992R |
probably benign |
Het |
| Cnga1 |
T |
C |
5: 72,761,724 (GRCm39) |
K597E |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,766,164 (GRCm39) |
M1919L |
possibly damaging |
Het |
| Cramp1 |
C |
T |
17: 25,198,559 (GRCm39) |
V788I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,557,886 (GRCm39) |
Y2176C |
probably damaging |
Het |
| Foxred2 |
A |
C |
15: 77,837,558 (GRCm39) |
V226G |
possibly damaging |
Het |
| Foxred2 |
T |
C |
15: 77,839,880 (GRCm39) |
I137V |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,967,516 (GRCm39) |
N430K |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,740,126 (GRCm39) |
|
probably benign |
Het |
| Ibsp |
T |
A |
5: 104,457,148 (GRCm39) |
S86T |
probably damaging |
Het |
| Igkv6-25 |
T |
A |
6: 70,192,694 (GRCm39) |
S34T |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,227,484 (GRCm39) |
Y572* |
probably null |
Het |
| Mup18 |
C |
T |
4: 61,590,866 (GRCm39) |
G97D |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,242 (GRCm39) |
N303I |
probably benign |
Het |
| Or1p1 |
A |
G |
11: 74,179,682 (GRCm39) |
D70G |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,660 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4k40 |
T |
G |
2: 111,251,144 (GRCm39) |
I51L |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,353,534 (GRCm39) |
I454N |
possibly damaging |
Het |
| Prrg3 |
A |
T |
X: 71,010,915 (GRCm39) |
S141C |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,842,563 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,777,189 (GRCm39) |
S323T |
probably benign |
Het |
| Sbpl |
A |
G |
17: 24,173,860 (GRCm39) |
L8P |
unknown |
Het |
| Setd1b |
C |
T |
5: 123,299,861 (GRCm39) |
|
probably benign |
Het |
| Sh2d3c |
G |
A |
2: 32,636,172 (GRCm39) |
G332D |
probably damaging |
Het |
| Slc2a7 |
A |
G |
4: 150,243,007 (GRCm39) |
E276G |
probably damaging |
Het |
| Sstr3 |
T |
G |
15: 78,424,324 (GRCm39) |
D141A |
probably damaging |
Het |
| St8sia5 |
T |
C |
18: 77,340,714 (GRCm39) |
C191R |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,269,538 (GRCm39) |
N230S |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,060,872 (GRCm39) |
|
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem151a |
A |
G |
19: 5,133,099 (GRCm39) |
S36P |
probably damaging |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,476 (GRCm39) |
T247A |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,834 (GRCm39) |
S304P |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,708 (GRCm39) |
N619D |
probably damaging |
Het |
| Xab2 |
C |
A |
8: 3,664,244 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc35b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00782:Slc35b3
|
APN |
13 |
39,127,116 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02111:Slc35b3
|
APN |
13 |
39,139,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0883:Slc35b3
|
UTSW |
13 |
39,121,251 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1170:Slc35b3
|
UTSW |
13 |
39,121,307 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1440:Slc35b3
|
UTSW |
13 |
39,138,110 (GRCm39) |
nonsense |
probably null |
|
|
R1653:Slc35b3
|
UTSW |
13 |
39,139,774 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1900:Slc35b3
|
UTSW |
13 |
39,144,587 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3874:Slc35b3
|
UTSW |
13 |
39,127,044 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3897:Slc35b3
|
UTSW |
13 |
39,118,739 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4937:Slc35b3
|
UTSW |
13 |
39,116,887 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4955:Slc35b3
|
UTSW |
13 |
39,116,866 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5034:Slc35b3
|
UTSW |
13 |
39,127,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5770:Slc35b3
|
UTSW |
13 |
39,121,734 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6155:Slc35b3
|
UTSW |
13 |
39,128,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6663:Slc35b3
|
UTSW |
13 |
39,138,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7701:Slc35b3
|
UTSW |
13 |
39,128,611 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8534:Slc35b3
|
UTSW |
13 |
39,128,566 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8796:Slc35b3
|
UTSW |
13 |
39,121,722 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8950:Slc35b3
|
UTSW |
13 |
39,138,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9185:Slc35b3
|
UTSW |
13 |
39,123,958 (GRCm39) |
splice site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGACTGGTACATTATGAACTTC -3'
(R):5'- GATACTGGTTCATGGGCCACTAG -3'
Sequencing Primer
(F):5'- GGATCTGTAATGTTGTATTCAAAGGG -3'
(R):5'- GTTCATGGGCCACTAGAATCAGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation