Incidental Mutation 'R6288:Sox11'
| ID |
509242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox11
|
| Ensembl Gene |
ENSMUSG00000063632 |
| Gene Name |
SRY (sex determining region Y)-box 11 |
| Synonyms |
end1, 1110038H03Rik, 6230403H02Rik |
| MMRRC Submission |
044458-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
27384263-27392573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27392332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 26
(F26L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079063]
|
| AlphaFold |
Q7M6Y2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079063
AA Change: F26L
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078070
Gene: ENSMUSG00000063632
AA Change: F26L
| Domain | Start | End | E-Value | Type |
|---|
|
HMG
|
48 |
118 |
1.35e-27 |
SMART |
|
low complexity region
|
142 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
357 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless 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. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality with impaired ossification and impaired development of the heart, lung, spleen, stomach, skeleton and pancreas. Mice homozygous for a different knock-out allele exhibit abnormal nervous system development and complete neonatal lethality. [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 |
|---|
| 4930438A08Rik |
G |
T |
11: 58,184,421 (GRCm39) |
D380Y |
probably damaging |
Het |
| 4931406B18Rik |
T |
A |
7: 43,147,549 (GRCm39) |
E274V |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,802,922 (GRCm39) |
L192P |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,208,434 (GRCm39) |
I624F |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,526,040 (GRCm39) |
K219E |
possibly damaging |
Het |
| Bean1 |
T |
A |
8: 104,937,622 (GRCm39) |
L33Q |
probably damaging |
Het |
| Cdhr17 |
T |
A |
5: 17,061,283 (GRCm39) |
C738S |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,766,718 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,945,462 (GRCm39) |
D884G |
probably damaging |
Het |
| Crocc2 |
A |
G |
1: 93,122,227 (GRCm39) |
R707G |
probably benign |
Het |
| Cts7 |
C |
T |
13: 61,500,584 (GRCm39) |
G321E |
probably damaging |
Het |
| Cyp2d9 |
C |
T |
15: 82,340,616 (GRCm39) |
H422Y |
probably damaging |
Het |
| Epha2 |
C |
T |
4: 141,044,344 (GRCm39) |
A382V |
probably benign |
Het |
| Fam151a |
A |
C |
4: 106,605,341 (GRCm39) |
T568P |
probably damaging |
Het |
| Fbln2 |
A |
T |
6: 91,210,263 (GRCm39) |
Y69F |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,111,092 (GRCm39) |
H1040L |
unknown |
Het |
| Gucy2g |
T |
C |
19: 55,215,945 (GRCm39) |
T476A |
probably benign |
Het |
| H3c7 |
A |
G |
13: 23,728,664 (GRCm39) |
T4A |
probably benign |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,519 (GRCm39) |
G75D |
probably benign |
Het |
| Inpp5b |
G |
A |
4: 124,679,020 (GRCm39) |
V476I |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,540,591 (GRCm39) |
L855Q |
probably damaging |
Het |
| Or52ab2 |
A |
G |
7: 102,970,286 (GRCm39) |
I223V |
probably damaging |
Het |
| Or8h7 |
A |
G |
2: 86,721,226 (GRCm39) |
F98L |
probably benign |
Het |
| Pcolce2 |
T |
A |
9: 95,563,646 (GRCm39) |
Y211N |
probably damaging |
Het |
| Phf21b |
A |
C |
15: 84,739,272 (GRCm39) |
|
probably benign |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,111 (GRCm39) |
E122G |
probably benign |
Het |
| Rimbp3 |
C |
T |
16: 17,030,772 (GRCm39) |
P1399S |
probably benign |
Het |
| Slc38a1 |
A |
G |
15: 96,484,759 (GRCm39) |
V267A |
probably benign |
Het |
| Ssbp3 |
T |
A |
4: 106,903,277 (GRCm39) |
|
probably null |
Het |
| Trim12c |
C |
T |
7: 103,995,936 (GRCm39) |
V146I |
probably benign |
Het |
| Trrap |
C |
A |
5: 144,748,802 (GRCm39) |
T1543K |
probably damaging |
Het |
| Zfp473 |
C |
A |
7: 44,382,958 (GRCm39) |
K457N |
probably damaging |
Het |
|
| Other mutations in Sox11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0898:Sox11
|
UTSW |
12 |
27,391,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1265:Sox11
|
UTSW |
12 |
27,391,735 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2073:Sox11
|
UTSW |
12 |
27,392,278 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2108:Sox11
|
UTSW |
12 |
27,391,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3620:Sox11
|
UTSW |
12 |
27,391,735 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3855:Sox11
|
UTSW |
12 |
27,391,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5681:Sox11
|
UTSW |
12 |
27,391,823 (GRCm39) |
missense |
probably benign |
|
|
R6933:Sox11
|
UTSW |
12 |
27,391,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7752:Sox11
|
UTSW |
12 |
27,391,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Sox11
|
UTSW |
12 |
27,392,313 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9066:Sox11
|
UTSW |
12 |
27,391,422 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9172:Sox11
|
UTSW |
12 |
27,391,536 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGGATAATCAGCCATGTGC -3'
(R):5'- AGGACTTTGCAACTTGCCG -3'
Sequencing Primer
(F):5'- AGCATCTTCCAGCGCTTG -3'
(R):5'- CTTTGCAACTTGCCGGAGAAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation