Incidental Mutation 'R1328:Sox13'
| ID |
157266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox13
|
| Ensembl Gene |
ENSMUSG00000070643 |
| Gene Name |
SRY (sex determining region Y)-box 13 |
| Synonyms |
|
| MMRRC Submission |
039394-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1328 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133310041-133352115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133311555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 559
(D559G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094551]
[ENSMUST00000129213]
[ENSMUST00000135222]
[ENSMUST00000144386]
[ENSMUST00000153799]
|
| AlphaFold |
Q04891 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094551
AA Change: D559G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
AA Change: D559G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
171 |
217 |
N/A |
INTRINSIC |
|
HMG
|
415 |
485 |
3.09e-27 |
SMART |
|
low complexity region
|
593 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126530
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129213
|
| SMART Domains |
Protein: ENSMUSP00000122244
Gene: ENSMUSG00000070644
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Choline_kinase
|
1 |
200 |
4.7e-64 |
PFAM |
|
Pfam:APH
|
2 |
227 |
2.2e-21 |
PFAM |
|
Pfam:EcKinase
|
58 |
211 |
1.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135222
|
| SMART Domains |
Protein: ENSMUSP00000114272
Gene: ENSMUSG00000070644
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:APH
|
84 |
331 |
1e-19 |
PFAM |
|
Pfam:Choline_kinase
|
104 |
303 |
2.7e-64 |
PFAM |
|
Pfam:EcKinase
|
163 |
313 |
2.8e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144386
|
| SMART Domains |
Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
153 |
197 |
N/A |
INTRINSIC |
|
HMG
|
396 |
466 |
3.09e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145922
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153799
AA Change: D559G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
AA Change: D559G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
153 |
199 |
N/A |
INTRINSIC |
|
HMG
|
397 |
467 |
3.09e-27 |
SMART |
|
low complexity region
|
575 |
589 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1262 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
100% (37/37) |
| 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 cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired development of gamma-delta T cells and severe postnatal growth defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
C |
T |
7: 43,906,516 (GRCm39) |
|
probably null |
Het |
| Bcap29 |
T |
C |
12: 31,680,807 (GRCm39) |
I60V |
probably benign |
Het |
| Ccdc71 |
T |
A |
9: 108,340,148 (GRCm39) |
|
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,027,382 (GRCm39) |
V240E |
probably benign |
Het |
| Copa |
C |
T |
1: 171,949,258 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
G |
T |
9: 54,303,533 (GRCm39) |
Q2314K |
probably benign |
Het |
| Fam181b |
T |
C |
7: 92,729,437 (GRCm39) |
I70T |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,457,347 (GRCm39) |
L176P |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,796 (GRCm39) |
F144L |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,438,612 (GRCm39) |
W169R |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,581,925 (GRCm39) |
V127A |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,468,802 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
C |
T |
15: 101,939,169 (GRCm39) |
A251V |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,644,617 (GRCm39) |
|
probably benign |
Het |
| Or6c202 |
A |
G |
10: 128,996,293 (GRCm39) |
S187P |
possibly damaging |
Het |
| Or9i14 |
G |
A |
19: 13,792,900 (GRCm39) |
T18I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,392 (GRCm39) |
Y481H |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,533,046 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
G |
A |
8: 79,162,759 (GRCm39) |
A92V |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,058 (GRCm39) |
L395P |
probably damaging |
Het |
| Prmt9 |
T |
C |
8: 78,299,283 (GRCm39) |
I659T |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rrp36 |
T |
A |
17: 46,983,705 (GRCm39) |
K36* |
probably null |
Het |
| Sag |
G |
A |
1: 87,738,016 (GRCm39) |
|
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,450,240 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Srd5a1 |
T |
A |
13: 69,723,310 (GRCm39) |
Y236F |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,692,657 (GRCm39) |
I570F |
possibly damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,805,859 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,260,913 (GRCm39) |
T1064A |
possibly damaging |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,278 (GRCm39) |
S110P |
possibly damaging |
Het |
| Vmn2r118 |
C |
A |
17: 55,915,620 (GRCm39) |
M443I |
probably benign |
Het |
|
| Other mutations in Sox13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Sox13
|
APN |
1 |
133,314,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01147:Sox13
|
APN |
1 |
133,320,873 (GRCm39) |
missense |
probably benign |
|
|
IGL01586:Sox13
|
APN |
1 |
133,317,182 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02750:Sox13
|
APN |
1 |
133,311,534 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02902:Sox13
|
APN |
1 |
133,317,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03388:Sox13
|
APN |
1 |
133,316,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4802001:Sox13
|
UTSW |
1 |
133,313,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0515:Sox13
|
UTSW |
1 |
133,311,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3766:Sox13
|
UTSW |
1 |
133,318,536 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4591:Sox13
|
UTSW |
1 |
133,311,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Sox13
|
UTSW |
1 |
133,316,672 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5715:Sox13
|
UTSW |
1 |
133,313,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5909:Sox13
|
UTSW |
1 |
133,311,627 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6155:Sox13
|
UTSW |
1 |
133,321,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7150:Sox13
|
UTSW |
1 |
133,313,243 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7225:Sox13
|
UTSW |
1 |
133,314,862 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7232:Sox13
|
UTSW |
1 |
133,312,129 (GRCm39) |
splice site |
probably null |
|
|
R7443:Sox13
|
UTSW |
1 |
133,312,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Sox13
|
UTSW |
1 |
133,312,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Sox13
|
UTSW |
1 |
133,311,498 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9200:Sox13
|
UTSW |
1 |
133,313,743 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9593:Sox13
|
UTSW |
1 |
133,316,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Sox13
|
UTSW |
1 |
133,313,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAGTACCACCAGCTCCTCATC -3'
(R):5'- CCCCTTATTTGACCATGACAGGCAC -3'
Sequencing Primer
(F):5'- ACCAGCTCCTCATCACTCTTC -3'
(R):5'- AGAGTATGCCGGTTACCCAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation