Incidental Mutation 'IGL02294:Sox21'
ID |
290133 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sox21
|
Ensembl Gene |
ENSMUSG00000061517 |
Gene Name |
SRY (sex determining region Y)-box 21 |
Synonyms |
Sox25 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.871)
|
Stock # |
IGL02294
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
118470645-118474442 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118472950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 33
(M33T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127396
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170662]
|
AlphaFold |
Q811W0 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163396
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164755
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170662
AA Change: M33T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000127396 Gene: ENSMUSG00000061517 AA Change: M33T
Domain | Start | End | E-Value | Type |
HMG
|
7 |
77 |
8.41e-29 |
SMART |
low complexity region
|
110 |
125 |
N/A |
INTRINSIC |
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
low complexity region
|
200 |
221 |
N/A |
INTRINSIC |
low complexity region
|
267 |
275 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[supplied by OMIM, Apr 2004] PHENOTYPE: Mice homozygous for a null mutation display cyclic alopecia, epidermal hyperplasia, enlarged sebaceous glands, and hair shaft and cuticle abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
A |
G |
18: 65,439,146 (GRCm39) |
V749A |
possibly damaging |
Het |
Col6a4 |
T |
C |
9: 105,943,931 (GRCm39) |
D1181G |
probably benign |
Het |
Crb1 |
A |
G |
1: 139,162,520 (GRCm39) |
S1213P |
possibly damaging |
Het |
D430041D05Rik |
A |
T |
2: 104,085,351 (GRCm39) |
M1066K |
probably benign |
Het |
Fasn |
G |
T |
11: 120,701,102 (GRCm39) |
T1999N |
probably damaging |
Het |
Flg2 |
C |
T |
3: 93,111,053 (GRCm39) |
A1027V |
unknown |
Het |
Gbp5 |
T |
A |
3: 142,209,588 (GRCm39) |
V178E |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,909,929 (GRCm39) |
D445G |
probably benign |
Het |
Hps3 |
T |
C |
3: 20,068,212 (GRCm39) |
E482G |
probably damaging |
Het |
Impdh1 |
G |
A |
6: 29,205,201 (GRCm39) |
A200V |
probably benign |
Het |
Kdm2b |
T |
C |
5: 123,099,537 (GRCm39) |
Y134C |
probably damaging |
Het |
Ly6g |
T |
A |
15: 75,030,413 (GRCm39) |
I77N |
possibly damaging |
Het |
Oprk1 |
T |
G |
1: 5,672,610 (GRCm39) |
M249R |
probably damaging |
Het |
Or5ac21 |
T |
C |
16: 59,123,975 (GRCm39) |
L153P |
probably damaging |
Het |
Or5h17 |
T |
C |
16: 58,820,428 (GRCm39) |
C127R |
probably damaging |
Het |
Otud4 |
A |
G |
8: 80,391,606 (GRCm39) |
|
probably benign |
Het |
Slc16a4 |
T |
C |
3: 107,208,384 (GRCm39) |
I298T |
probably benign |
Het |
Speer4a1 |
T |
A |
5: 26,243,240 (GRCm39) |
T82S |
probably benign |
Het |
Stard13 |
T |
C |
5: 150,986,580 (GRCm39) |
D310G |
probably benign |
Het |
Trpm6 |
C |
A |
19: 18,831,427 (GRCm39) |
Q1431K |
probably benign |
Het |
Ufl1 |
T |
A |
4: 25,259,281 (GRCm39) |
K446* |
probably null |
Het |
Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
|
Other mutations in Sox21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0027:Sox21
|
UTSW |
14 |
118,473,029 (GRCm39) |
missense |
probably benign |
0.33 |
R0157:Sox21
|
UTSW |
14 |
118,473,354 (GRCm39) |
start gained |
probably benign |
|
R2980:Sox21
|
UTSW |
14 |
118,472,962 (GRCm39) |
missense |
probably damaging |
0.96 |
R3716:Sox21
|
UTSW |
14 |
118,472,842 (GRCm39) |
missense |
probably benign |
0.05 |
R3827:Sox21
|
UTSW |
14 |
118,472,870 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4543:Sox21
|
UTSW |
14 |
118,472,548 (GRCm39) |
small deletion |
probably benign |
|
R4835:Sox21
|
UTSW |
14 |
118,472,336 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5776:Sox21
|
UTSW |
14 |
118,472,656 (GRCm39) |
missense |
probably damaging |
0.98 |
R6176:Sox21
|
UTSW |
14 |
118,473,040 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6933:Sox21
|
UTSW |
14 |
118,472,725 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7836:Sox21
|
UTSW |
14 |
118,472,729 (GRCm39) |
nonsense |
probably null |
|
R9585:Sox21
|
UTSW |
14 |
118,472,993 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Posted On |
2015-04-16 |