Incidental Mutation 'R4430:Sox5'
| ID |
328563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox5
|
| Ensembl Gene |
ENSMUSG00000041540 |
| Gene Name |
SRY (sex determining region Y)-box 5 |
| Synonyms |
A730017D01Rik |
| MMRRC Submission |
041700-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4430 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
143774151-144727703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143987000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 188
(I188T)
|
| 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: I188T
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000047567
Gene: ENSMUSG00000041540
AA Change: I188T
| 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: I188T
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000076403
Gene: ENSMUSG00000041540
AA Change: I188T
| 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
AA Change: I153T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107378
Gene: ENSMUSG00000041540
AA Change: I153T
| 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: ENSMUST00000141102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142294
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170367
AA Change: I188T
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133041
Gene: ENSMUSG00000041540
AA Change: I188T
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| 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 |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,963,348 (GRCm39) |
N926S |
unknown |
Het |
| Ahi1 |
T |
A |
10: 20,847,977 (GRCm39) |
C462S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,980,404 (GRCm39) |
I563V |
probably benign |
Het |
| Ankrd55 |
G |
A |
13: 112,459,717 (GRCm39) |
|
probably null |
Het |
| Bag3 |
A |
G |
7: 128,125,647 (GRCm39) |
D22G |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,245,705 (GRCm39) |
F152S |
probably damaging |
Het |
| Cxcr2 |
T |
C |
1: 74,198,004 (GRCm39) |
I166T |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,946,746 (GRCm39) |
I3113V |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,764,974 (GRCm39) |
H1059R |
probably benign |
Het |
| Gm14412 |
C |
A |
2: 177,007,625 (GRCm39) |
S90I |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,388 (GRCm39) |
R528G |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,882,217 (GRCm39) |
L449* |
probably null |
Het |
| Mif4gd |
T |
C |
11: 115,499,328 (GRCm39) |
T185A |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,403,509 (GRCm39) |
S840G |
possibly damaging |
Het |
| Nherf4 |
C |
T |
9: 44,161,041 (GRCm39) |
S175N |
probably benign |
Het |
| Nim1k |
C |
A |
13: 120,174,078 (GRCm39) |
R272L |
possibly damaging |
Het |
| Or5b104 |
C |
T |
19: 13,072,452 (GRCm39) |
V187I |
probably benign |
Het |
| Or6c213 |
T |
A |
10: 129,574,130 (GRCm39) |
I219F |
probably damaging |
Het |
| Or8k32 |
A |
G |
2: 86,368,731 (GRCm39) |
I176T |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,171,961 (GRCm39) |
V83A |
probably damaging |
Het |
| Pde3b |
C |
T |
7: 114,133,905 (GRCm39) |
P974S |
probably damaging |
Het |
| Pglyrp3 |
T |
A |
3: 91,938,798 (GRCm39) |
D324E |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,750,413 (GRCm39) |
S1953P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spata4 |
T |
C |
8: 55,054,878 (GRCm39) |
I86T |
probably benign |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,483,552 (GRCm39) |
V50A |
possibly damaging |
Het |
| Sytl4 |
A |
G,T |
X: 132,849,972 (GRCm39) |
S338R |
probably damaging |
Homo |
| Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem201 |
A |
C |
4: 149,815,596 (GRCm39) |
V118G |
probably benign |
Het |
| Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,401,951 (GRCm39) |
M227V |
probably benign |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,449 (GRCm39) |
M503K |
probably benign |
Het |
| Zfp54 |
T |
G |
17: 21,655,222 (GRCm39) |
V572G |
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 |
|
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 |
|
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'- CAGACAGACTGGGTTTGTGC -3'
(R):5'- ACCAGGATAGCCTATTCTTAGCAG -3'
Sequencing Primer
(F):5'- TTGGTCCTATACACTGCAAGCGG -3'
(R):5'- CTTAGCAGATAGGCTTCTATGAGCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation