Incidental Mutation 'R8250:Sox5'
| ID |
640281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox5
|
| Ensembl Gene |
ENSMUSG00000041540 |
| Gene Name |
SRY (sex determining region Y)-box 5 |
| Synonyms |
A730017D01Rik |
| MMRRC Submission |
067676-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8250 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
143774151-144727703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144100777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 71
(S71T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038815]
[ENSMUST00000077160]
[ENSMUST00000111749]
[ENSMUST00000170367]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038815
AA Change: S71T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047567
Gene: ENSMUSG00000041540
AA Change: S71T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
|
coiled coil region
|
193 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
445 |
N/A |
INTRINSIC |
|
coiled coil region
|
449 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
505 |
N/A |
INTRINSIC |
|
HMG
|
555 |
625 |
2.84e-26 |
SMART |
|
low complexity region
|
686 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077160
AA Change: S71T
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000076403
Gene: ENSMUSG00000041540
AA Change: S71T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
|
coiled coil region
|
193 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
397 |
N/A |
INTRINSIC |
|
coiled coil region
|
401 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
457 |
N/A |
INTRINSIC |
|
HMG
|
507 |
577 |
2.84e-26 |
SMART |
|
low complexity region
|
638 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
702 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111749
|
| SMART Domains |
Protein: ENSMUSP00000107378
Gene: ENSMUSG00000041540
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
158 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
361 |
N/A |
INTRINSIC |
|
coiled coil region
|
365 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
421 |
N/A |
INTRINSIC |
|
HMG
|
471 |
541 |
2.84e-26 |
SMART |
|
low complexity region
|
602 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
666 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170367
AA Change: S71T
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133041
Gene: ENSMUSG00000041540
AA Change: S71T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
|
coiled coil region
|
193 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
396 |
N/A |
INTRINSIC |
|
coiled coil region
|
400 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
456 |
N/A |
INTRINSIC |
|
HMG
|
506 |
576 |
2.84e-26 |
SMART |
|
low complexity region
|
637 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
701 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| 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. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice fail to breathe and die at birth exhibiting a narrow thoracic cage, irregularly mineralized sternum, cleft secondary palate, and delayed bone mineralization. Homozygotes for a transposon induced insertion die shortly after birth exhibiting cyanosis and respiratory distress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,260,846 (GRCm39) |
E1027V |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,971,811 (GRCm39) |
S515P |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,126,245 (GRCm39) |
D81E |
unknown |
Het |
| Csrnp3 |
A |
G |
2: 65,852,562 (GRCm39) |
E330G |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Ftcd |
T |
G |
10: 76,417,461 (GRCm39) |
I300R |
probably damaging |
Het |
| Fxr1 |
T |
A |
3: 34,101,178 (GRCm39) |
Y161* |
probably null |
Het |
| Gabrg2 |
C |
T |
11: 41,858,379 (GRCm39) |
V250I |
probably benign |
Het |
| Gmcl1 |
T |
C |
6: 86,698,384 (GRCm39) |
D171G |
possibly damaging |
Het |
| Grk2 |
A |
G |
19: 4,339,962 (GRCm39) |
F375S |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,970,564 (GRCm39) |
I650N |
probably damaging |
Het |
| Lhfpl6 |
T |
C |
3: 52,950,759 (GRCm39) |
I11T |
probably benign |
Het |
| Mbtd1 |
A |
G |
11: 93,801,176 (GRCm39) |
Y141C |
probably damaging |
Het |
| Mon1b |
A |
T |
8: 114,366,351 (GRCm39) |
E449V |
probably damaging |
Het |
| Mrpl47 |
T |
C |
3: 32,785,382 (GRCm39) |
N112S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,767,392 (GRCm39) |
H865Q |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,351,310 (GRCm39) |
N1895S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,879,318 (GRCm39) |
I693V |
probably benign |
Het |
| Oip5 |
A |
G |
2: 119,446,110 (GRCm39) |
S133P |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,566 (GRCm39) |
I95V |
probably damaging |
Het |
| Or10v1 |
A |
T |
19: 11,873,741 (GRCm39) |
M119L |
probably damaging |
Het |
| Or52l1 |
T |
C |
7: 104,830,518 (GRCm39) |
M16V |
|
Het |
| Or8k20 |
T |
C |
2: 86,106,498 (GRCm39) |
E111G |
probably damaging |
Het |
| P2rx3 |
A |
C |
2: 84,852,735 (GRCm39) |
V221G |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,556 (GRCm39) |
N56S |
possibly damaging |
Het |
| Psmd11 |
T |
C |
11: 80,336,752 (GRCm39) |
S135P |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,743 (GRCm39) |
D395G |
probably benign |
Het |
| Scube2 |
T |
C |
7: 109,463,377 (GRCm39) |
N62S |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,423,182 (GRCm39) |
S275T |
probably damaging |
Het |
| Sirpb1a |
A |
T |
3: 15,444,104 (GRCm39) |
L382Q |
possibly damaging |
Het |
| Snrpn |
T |
A |
7: 59,636,633 (GRCm39) |
|
probably null |
Het |
| Synpo2l |
G |
T |
14: 20,712,344 (GRCm39) |
T321K |
probably benign |
Het |
| Tex15 |
G |
A |
8: 34,055,233 (GRCm39) |
E285K |
probably null |
Het |
| Tmem126b |
G |
A |
7: 90,118,317 (GRCm39) |
L188F |
probably damaging |
Het |
| Ttll2 |
T |
C |
17: 7,618,767 (GRCm39) |
T387A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,667,155 (GRCm39) |
Y11484H |
unknown |
Het |
| Vmn2r76 |
T |
A |
7: 85,875,231 (GRCm39) |
Y582F |
possibly damaging |
Het |
| Zfp786 |
A |
T |
6: 47,797,729 (GRCm39) |
L403Q |
possibly damaging |
Het |
|
| Other mutations in Sox5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Sox5
|
APN |
6 |
144,062,198 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03217:Sox5
|
APN |
6 |
143,853,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stocking
|
UTSW |
6 |
144,062,169 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0230:Sox5
|
UTSW |
6 |
144,155,064 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0610:Sox5
|
UTSW |
6 |
143,779,165 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1162:Sox5
|
UTSW |
6 |
143,906,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Sox5
|
UTSW |
6 |
143,906,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Sox5
|
UTSW |
6 |
143,819,831 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4057:Sox5
|
UTSW |
6 |
144,062,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4164:Sox5
|
UTSW |
6 |
144,062,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4284:Sox5
|
UTSW |
6 |
143,781,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4430:Sox5
|
UTSW |
6 |
143,987,000 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4470:Sox5
|
UTSW |
6 |
143,790,491 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4471:Sox5
|
UTSW |
6 |
143,790,491 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4672:Sox5
|
UTSW |
6 |
143,779,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4683:Sox5
|
UTSW |
6 |
143,779,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4693:Sox5
|
UTSW |
6 |
143,781,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Sox5
|
UTSW |
6 |
143,906,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4745:Sox5
|
UTSW |
6 |
143,779,214 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4762:Sox5
|
UTSW |
6 |
143,807,109 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4996:Sox5
|
UTSW |
6 |
143,974,070 (GRCm39) |
nonsense |
probably null |
|
|
R5218:Sox5
|
UTSW |
6 |
143,906,616 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5673:Sox5
|
UTSW |
6 |
144,062,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5856:Sox5
|
UTSW |
6 |
144,155,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Sox5
|
UTSW |
6 |
143,779,009 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6394:Sox5
|
UTSW |
6 |
143,987,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Sox5
|
UTSW |
6 |
143,779,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6812:Sox5
|
UTSW |
6 |
144,062,169 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7312:Sox5
|
UTSW |
6 |
144,100,759 (GRCm39) |
missense |
probably benign |
|
|
R7543:Sox5
|
UTSW |
6 |
143,786,905 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8110:Sox5
|
UTSW |
6 |
144,062,200 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8231:Sox5
|
UTSW |
6 |
143,974,014 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8705:Sox5
|
UTSW |
6 |
143,987,012 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8937:Sox5
|
UTSW |
6 |
143,853,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9182:Sox5
|
UTSW |
6 |
143,779,118 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9193:Sox5
|
UTSW |
6 |
143,790,570 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9740:Sox5
|
UTSW |
6 |
144,100,947 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9762:Sox5
|
UTSW |
6 |
143,819,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGAGGCCTGCTGTGAATC -3'
(R):5'- CCACACAATGACGGCATTAAGG -3'
Sequencing Primer
(F):5'- AATCGTCTGTGTGGTTCTTAGAAAC -3'
(R):5'- AATGACGGCATTAAGGATTTATGTGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation