Incidental Mutation 'R4473:Sox18'
| ID |
330448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox18
|
| Ensembl Gene |
ENSMUSG00000046470 |
| Gene Name |
SRY (sex determining region Y)-box 18 |
| Synonyms |
Sry-related HMG-box gene 18, Ragl |
| MMRRC Submission |
041730-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4473 (G1)
|
| Quality Score |
166 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181311630-181313433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 181312669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 154
(K154R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054491]
|
| AlphaFold |
P43680 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054491
AA Change: K154R
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000062759
Gene: ENSMUSG00000046470
AA Change: K154R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
61 |
N/A |
INTRINSIC |
|
HMG
|
78 |
148 |
4.08e-27 |
SMART |
|
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
|
Pfam:Sox_C_TAD
|
186 |
375 |
2.2e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.1487 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for some mutant alleles show low prenatal viability and cardiovascular defects. Most mutants show darkened coats, reduced zigzag hairs and, depending on the allele, sparse abnormal hair and edema. Heterozygotes show similar or milder defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
A |
4: 152,291,313 (GRCm39) |
T93K |
probably damaging |
Het |
| Actg1 |
G |
A |
11: 120,239,085 (GRCm39) |
R2C |
probably benign |
Het |
| Alb |
T |
C |
5: 90,611,912 (GRCm39) |
C114R |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,327 (GRCm39) |
S1008T |
probably benign |
Het |
| Corin |
T |
C |
5: 72,496,400 (GRCm39) |
S510G |
probably damaging |
Het |
| D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
| Eddm3b |
A |
G |
14: 51,354,236 (GRCm39) |
T75A |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,149,246 (GRCm39) |
|
probably null |
Het |
| Erc1 |
G |
T |
6: 119,825,417 (GRCm39) |
|
probably null |
Het |
| Fancf |
A |
G |
7: 51,511,948 (GRCm39) |
C19R |
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,770,833 (GRCm39) |
L63P |
probably damaging |
Het |
| Fmo1 |
A |
G |
1: 162,677,732 (GRCm39) |
V128A |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,292,058 (GRCm39) |
V133A |
probably damaging |
Het |
| Ighv1-49 |
A |
T |
12: 115,018,959 (GRCm39) |
Y79N |
probably damaging |
Het |
| Klhl23 |
A |
G |
2: 69,654,151 (GRCm39) |
E7G |
possibly damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,287,517 (GRCm39) |
|
probably benign |
Het |
| Or5d35 |
T |
A |
2: 87,855,464 (GRCm39) |
Y133N |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Podnl1 |
A |
T |
8: 84,858,614 (GRCm39) |
I505F |
possibly damaging |
Het |
| Ppp6r3 |
G |
T |
19: 3,561,978 (GRCm39) |
Q228K |
probably damaging |
Het |
| Pramel38 |
A |
G |
5: 94,366,029 (GRCm39) |
N49S |
probably benign |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Skor2 |
C |
T |
18: 76,947,156 (GRCm39) |
P293S |
unknown |
Het |
| Tfpi |
A |
T |
2: 84,288,426 (GRCm39) |
L10Q |
probably null |
Het |
| Trim66 |
A |
T |
7: 109,081,202 (GRCm39) |
I239N |
probably damaging |
Het |
| Ttll1 |
T |
A |
15: 83,376,810 (GRCm39) |
K304N |
probably damaging |
Het |
| Vmn1r5 |
G |
A |
6: 56,962,633 (GRCm39) |
V103I |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,770,789 (GRCm39) |
W6R |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,065,995 (GRCm39) |
Y651C |
probably benign |
Het |
|
| Other mutations in Sox18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00811:Sox18
|
APN |
2 |
181,312,213 (GRCm39) |
missense |
probably benign |
|
|
IGL01691:Sox18
|
APN |
2 |
181,313,143 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
nandou
|
UTSW |
2 |
181,312,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4476:Sox18
|
UTSW |
2 |
181,312,669 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4710:Sox18
|
UTSW |
2 |
181,312,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4949:Sox18
|
UTSW |
2 |
181,313,017 (GRCm39) |
nonsense |
probably null |
|
|
R5249:Sox18
|
UTSW |
2 |
181,312,971 (GRCm39) |
splice site |
probably null |
|
|
R7056:Sox18
|
UTSW |
2 |
181,313,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7083:Sox18
|
UTSW |
2 |
181,312,165 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8109:Sox18
|
UTSW |
2 |
181,313,293 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8284:Sox18
|
UTSW |
2 |
181,312,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9341:Sox18
|
UTSW |
2 |
181,312,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9343:Sox18
|
UTSW |
2 |
181,312,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATAGTAGAGACCTGCGAGTGG -3'
(R):5'- TATGCCATGTTTCACGCCG -3'
Sequencing Primer
(F):5'- CATAGGGTGCCCGGAAAGC -3'
(R):5'- CACGACGGTTTGGCTAGTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation