Incidental Mutation 'R4057:Sox5'
| ID |
314284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox5
|
| Ensembl Gene |
ENSMUSG00000041540 |
| Gene Name |
SRY (sex determining region Y)-box 5 |
| Synonyms |
A730017D01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4057 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
143774151-144727703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 144062248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 135
(R135S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038815]
[ENSMUST00000077160]
[ENSMUST00000111749]
[ENSMUST00000170367]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038815
AA Change: R135S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000047567
Gene: ENSMUSG00000041540
AA Change: R135S
| 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 damaging
Transcript: ENSMUST00000077160
AA Change: R135S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076403
Gene: ENSMUSG00000041540
AA Change: R135S
| 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 |
possibly damaging
Transcript: ENSMUST00000111749
AA Change: R100S
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107378
Gene: ENSMUSG00000041540
AA Change: R100S
| 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 |
noncoding transcript
Transcript: ENSMUST00000129050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139478
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149451
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170367
AA Change: R135S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133041
Gene: ENSMUSG00000041540
AA Change: R135S
| 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 |
|
| Meta Mutation Damage Score |
0.4619 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
95% (36/38) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
G |
17: 36,270,807 (GRCm39) |
I510T |
possibly damaging |
Het |
| Asb2 |
A |
G |
12: 103,291,653 (GRCm39) |
Y377H |
probably benign |
Het |
| Cars1 |
T |
C |
7: 143,124,385 (GRCm39) |
E347G |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,118,576 (GRCm39) |
V741A |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,248,509 (GRCm39) |
M1686K |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,225,135 (GRCm39) |
|
probably benign |
Het |
| Emcn |
C |
A |
3: 137,085,660 (GRCm39) |
T86K |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,803,541 (GRCm39) |
Q1715L |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,290,250 (GRCm39) |
Y2361C |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,282,714 (GRCm39) |
K180E |
probably damaging |
Het |
| Ints2 |
A |
C |
11: 86,133,778 (GRCm39) |
L424R |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,134,579 (GRCm39) |
I401N |
probably damaging |
Het |
| Ltbp1 |
G |
T |
17: 75,617,189 (GRCm39) |
G725C |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,270,971 (GRCm39) |
M144K |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,716,394 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,096,711 (GRCm39) |
V5000D |
possibly damaging |
Het |
| Neb |
G |
T |
2: 52,127,120 (GRCm39) |
A3534E |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,270,071 (GRCm39) |
C833S |
probably benign |
Het |
| Npas1 |
C |
A |
7: 16,208,712 (GRCm39) |
R55L |
probably damaging |
Het |
| Or52n20 |
A |
G |
7: 104,320,476 (GRCm39) |
K189R |
probably damaging |
Het |
| P2ry10 |
T |
C |
X: 106,146,862 (GRCm39) |
C266R |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,331,950 (GRCm39) |
E351G |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,748,563 (GRCm39) |
R1751W |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,150 (GRCm39) |
|
probably null |
Het |
| Por |
A |
G |
5: 135,760,428 (GRCm39) |
Y245C |
probably damaging |
Het |
| Ptprm |
A |
C |
17: 67,382,658 (GRCm39) |
I158S |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,673 (GRCm39) |
I385V |
probably damaging |
Het |
| Serpina3m |
A |
C |
12: 104,357,996 (GRCm39) |
|
probably benign |
Het |
| Stag2 |
A |
G |
X: 41,313,819 (GRCm39) |
T228A |
probably damaging |
Het |
| Wif1 |
G |
A |
10: 120,918,099 (GRCm39) |
V156I |
probably benign |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably 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 |
|
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 |
|
R8250:Sox5
|
UTSW |
6 |
144,100,777 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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'- AAGGCTCACGTTGCAATGTG -3'
(R):5'- TGAATTTTAAACAGCCCTCCCTG -3'
Sequencing Primer
(F):5'- ATCTTAGGATCTGTGAGATAGAGATG -3'
(R):5'- AAACAGCCCTCCCTGTCTTTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation