Incidental Mutation 'RF049:Tspan33'
| ID |
605103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspan33
|
| Ensembl Gene |
ENSMUSG00000001763 |
| Gene Name |
tetraspanin 33 |
| Synonyms |
Penumbra, Pen, 1300010A20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
RF049 (G1)
|
| Quality Score |
143.467 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29694221-29718558 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
G to GCTGT
at 29709997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046750]
[ENSMUST00000115250]
|
| AlphaFold |
Q8R3S2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046750
|
| SMART Domains |
Protein: ENSMUSP00000045282
Gene: ENSMUSG00000001763
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
21 |
264 |
3.8e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115250
|
| SMART Domains |
Protein: ENSMUSP00000110905
Gene: ENSMUSG00000001763
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
21 |
263 |
1.3e-52 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the tetraspanin family which typically have four transmembrane domains. The encoded protein may be involved in the regulation of erythropoiesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a null mutation display anemia and partial penetrance of red blood cell abnormalities, splenomegaly, monocytosis, thrombocytopenia, reticulocytosis, and extramedullary hematopoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
GTAGGA |
G |
5: 26,053,486 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,976 (GRCm39) |
|
probably benign |
Het |
| Begain |
GCGCCCCCGCC |
GCGCCCCCGCCCCCGCC |
12: 108,999,340 (GRCm39) |
|
probably benign |
Het |
| Cdx1 |
GGGGCTG |
GGGGCTGGGGCTG |
18: 61,152,938 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCCGC |
12: 102,527,652 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
CAGCC |
CAGCCCTAGCC |
11: 101,080,418 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
C |
CCCAGCA |
11: 101,080,422 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CCTGGTGT |
CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT |
17: 23,981,145 (GRCm39) |
|
probably null |
Het |
| Gabre |
CTCAGGCTGGGG |
C |
X: 71,313,883 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
AGCTGCAGGAGCAGCCACAGCTGCAGGAG |
AGCTGCAGGAGCCGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAG |
4: 59,610,633 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
AG |
AGATGCAGCAGCAGCCACGG |
4: 59,610,651 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGC |
CACAGCAACAGC |
1: 83,019,859 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGC |
CACAGCCACAGCCACAACAGC |
1: 83,020,006 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CTCCAGCTCCAGCTCCAGCTCCAG |
CTCCAGCTCCAGTTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,367 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCATCA |
X: 70,162,439 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCATCA |
X: 70,162,451 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,390 (GRCm39) |
|
probably benign |
Het |
| Nefh |
ACTTGGCCTCAGCTGG |
ACTTGGCCTCAGCTGGAGCCTTGGCCTCAGCTGG |
11: 4,890,997 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CACGTTAGCAGTGAGGAGCAAGCTGAGA |
CACGTTAGCAGTCAGGAGCAAGCTGAGATAGACGTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,064 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ACTCATGGTCCTGTAGAGCAATGGGGATTC |
ACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCGCTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,772 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
TCGGCCCACTCAGCCCACTCGGCC |
TCGGCCCACTCGGCCCACTCAGCCCACTCGGCC |
5: 129,646,808 (GRCm39) |
|
probably benign |
Het |
| Sirpa |
TCATCAG |
T |
2: 129,451,123 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,150 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
CTGCTGCTGCTGCTG |
CTGCTGCTGCTGCTGATGCTGCTGCTGCTG |
15: 72,673,155 (GRCm39) |
|
probably benign |
Het |
| Triobp |
GACAA |
GACAACCCCAGGACTCCCTGTACCCAACGGAACAA |
15: 78,851,261 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
CAGAGCCACCAAGTACCT |
C |
7: 11,581,067 (GRCm39) |
|
probably null |
Het |
| Zkscan4 |
AAAAA |
AAAAAA |
13: 21,668,881 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tspan33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0227:Tspan33
|
UTSW |
6 |
29,713,477 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0329:Tspan33
|
UTSW |
6 |
29,711,091 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0330:Tspan33
|
UTSW |
6 |
29,711,091 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1554:Tspan33
|
UTSW |
6 |
29,711,081 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2078:Tspan33
|
UTSW |
6 |
29,709,970 (GRCm39) |
missense |
probably benign |
|
|
R5705:Tspan33
|
UTSW |
6 |
29,717,232 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5815:Tspan33
|
UTSW |
6 |
29,710,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Tspan33
|
UTSW |
6 |
29,716,783 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7375:Tspan33
|
UTSW |
6 |
29,713,519 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7535:Tspan33
|
UTSW |
6 |
29,717,588 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7570:Tspan33
|
UTSW |
6 |
29,717,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8731:Tspan33
|
UTSW |
6 |
29,717,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9034:Tspan33
|
UTSW |
6 |
29,717,611 (GRCm39) |
nonsense |
probably null |
|
|
R9238:Tspan33
|
UTSW |
6 |
29,710,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF011:Tspan33
|
UTSW |
6 |
29,716,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Tspan33
|
UTSW |
6 |
29,710,630 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0020:Tspan33
|
UTSW |
6 |
29,694,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCCTGAGTTATACCTCCAGAC -3'
(R):5'- TCAGACAGATCTTGGGAGGG -3'
Sequencing Primer
(F):5'- TCCATCTGTGAAATGCGGAC -3'
(R):5'- CAGATCTTGGGAGGGGGTGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation