Incidental Mutation 'R9193:Sox5'
| ID |
697806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox5
|
| Ensembl Gene |
ENSMUSG00000041540 |
| Gene Name |
SRY (sex determining region Y)-box 5 |
| Synonyms |
A730017D01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9193 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
143774151-144727703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 143790570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 497
(E497K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038815]
[ENSMUST00000077160]
[ENSMUST00000111748]
[ENSMUST00000111749]
[ENSMUST00000144289]
[ENSMUST00000170367]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038815
AA Change: E497K
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000047567
Gene: ENSMUSG00000041540
AA Change: E497K
| 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: E449K
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000076403
Gene: ENSMUSG00000041540
AA Change: E449K
| 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: ENSMUST00000111748
AA Change: E126K
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107377
Gene: ENSMUSG00000041540
AA Change: E126K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
coiled coil region
|
78 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
|
HMG
|
184 |
254 |
2.84e-26 |
SMART |
|
low complexity region
|
315 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111749
AA Change: E413K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000107378
Gene: ENSMUSG00000041540
AA Change: E413K
| 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: ENSMUST00000144289
AA Change: E175K
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122786
Gene: ENSMUSG00000041540
AA Change: E175K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
coiled coil region
|
127 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170367
AA Change: E448K
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133041
Gene: ENSMUSG00000041540
AA Change: E448K
| 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: 99.3%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak1 |
A |
T |
2: 32,520,391 (GRCm39) |
K79M |
probably benign |
Het |
| Amy1 |
T |
C |
3: 113,356,278 (GRCm39) |
K293E |
probably benign |
Het |
| Bcl2l10 |
A |
G |
9: 75,255,333 (GRCm39) |
Q50R |
probably benign |
Het |
| Bpifa6 |
G |
A |
2: 153,826,740 (GRCm39) |
G35D |
probably benign |
Het |
| Cachd1 |
C |
A |
4: 100,634,339 (GRCm39) |
P5Q |
unknown |
Het |
| Capn13 |
A |
T |
17: 73,652,191 (GRCm39) |
I266N |
probably damaging |
Het |
| Chil3 |
A |
G |
3: 106,063,081 (GRCm39) |
S170P |
possibly damaging |
Het |
| Ckap4 |
A |
G |
10: 84,363,350 (GRCm39) |
I571T |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,242,964 (GRCm39) |
M371V |
unknown |
Het |
| Dag1 |
A |
G |
9: 108,085,467 (GRCm39) |
L558P |
possibly damaging |
Het |
| Edem3 |
G |
A |
1: 151,694,270 (GRCm39) |
E868K |
probably benign |
Het |
| Eif3k |
T |
C |
7: 28,673,624 (GRCm39) |
Y150C |
probably damaging |
Het |
| Farp1 |
T |
C |
14: 121,518,281 (GRCm39) |
I988T |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,910,248 (GRCm39) |
M1918T |
probably benign |
Het |
| Gba2 |
A |
G |
4: 43,578,112 (GRCm39) |
I79T |
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,179,169 (GRCm39) |
D110G |
probably damaging |
Het |
| Gm57858 |
G |
T |
3: 36,089,428 (GRCm39) |
N165K |
probably benign |
Het |
| H2-M2 |
T |
A |
17: 37,793,428 (GRCm39) |
M193L |
probably benign |
Het |
| H2-T13 |
A |
G |
17: 36,391,956 (GRCm39) |
V39A |
possibly damaging |
Het |
| Ighv7-1 |
T |
A |
12: 113,860,110 (GRCm39) |
D94V |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,689,202 (GRCm39) |
F244L |
possibly damaging |
Het |
| Jag1 |
A |
T |
2: 136,931,764 (GRCm39) |
H602Q |
probably null |
Het |
| Kidins220 |
A |
T |
12: 25,036,966 (GRCm39) |
I16F |
possibly damaging |
Het |
| Klb |
A |
G |
5: 65,529,368 (GRCm39) |
T299A |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,951,444 (GRCm39) |
K1063R |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,794,550 (GRCm39) |
E538G |
possibly damaging |
Het |
| Lrrc7 |
A |
T |
3: 158,059,011 (GRCm39) |
L32* |
probably null |
Het |
| Lrrtm3 |
A |
T |
10: 63,765,883 (GRCm39) |
I568N |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,343,295 (GRCm39) |
D164G |
probably damaging |
Het |
| Naaladl2 |
T |
C |
3: 23,900,742 (GRCm39) |
D696G |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,545,792 (GRCm39) |
L1073* |
probably null |
Het |
| Nid2 |
T |
C |
14: 19,853,278 (GRCm39) |
S1166P |
probably damaging |
Het |
| Nlrp4c |
T |
C |
7: 6,095,621 (GRCm39) |
V833A |
probably benign |
Het |
| Nyap2 |
T |
C |
1: 81,275,712 (GRCm39) |
S619P |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,867,878 (GRCm39) |
M118V |
probably damaging |
Het |
| Or2a20 |
A |
T |
6: 43,194,086 (GRCm39) |
T80S |
probably benign |
Het |
| Or4a71 |
A |
G |
2: 89,357,987 (GRCm39) |
Y256H |
probably damaging |
Het |
| Or8k16 |
C |
A |
2: 85,520,644 (GRCm39) |
Y290* |
probably null |
Het |
| P3h2 |
T |
C |
16: 25,923,991 (GRCm39) |
N148S |
probably benign |
Het |
| P4htm |
A |
G |
9: 108,460,081 (GRCm39) |
M231T |
probably damaging |
Het |
| Pank1 |
T |
A |
19: 34,804,634 (GRCm39) |
K349I |
possibly damaging |
Het |
| Pgam5 |
A |
G |
5: 110,413,466 (GRCm39) |
Y210H |
probably benign |
Het |
| Prb1b |
T |
C |
6: 132,288,996 (GRCm39) |
H276R |
unknown |
Het |
| Prl2a1 |
T |
A |
13: 27,992,535 (GRCm39) |
C220S |
probably damaging |
Het |
| Psca |
C |
T |
15: 74,587,932 (GRCm39) |
Q39* |
probably null |
Het |
| Rgs20 |
A |
T |
1: 5,091,067 (GRCm39) |
M121K |
possibly damaging |
Het |
| S100z |
C |
T |
13: 95,613,883 (GRCm39) |
V76M |
possibly damaging |
Het |
| Slc30a10 |
T |
C |
1: 185,195,034 (GRCm39) |
I282T |
probably damaging |
Het |
| Slc30a3 |
T |
C |
5: 31,246,088 (GRCm39) |
Y214C |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,519 (GRCm39) |
D284G |
probably benign |
Het |
| Sptbn1 |
C |
T |
11: 30,087,551 (GRCm39) |
E963K |
possibly damaging |
Het |
| Srl |
T |
C |
16: 4,311,723 (GRCm39) |
E465G |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,228,304 (GRCm39) |
M1663T |
probably benign |
Het |
| Tas2r119 |
T |
G |
15: 32,177,932 (GRCm39) |
V166G |
probably benign |
Het |
| Tcf7l1 |
A |
G |
6: 72,611,205 (GRCm39) |
V191A |
probably damaging |
Het |
| Thap7 |
A |
T |
16: 17,346,901 (GRCm39) |
I92K |
probably damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,371,407 (GRCm39) |
T38A |
possibly damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
| Trim30c |
C |
T |
7: 104,031,553 (GRCm39) |
V421I |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,571,729 (GRCm39) |
M101K |
probably benign |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,565 (GRCm39) |
C104S |
probably damaging |
Het |
| Wdr74 |
T |
A |
19: 8,715,240 (GRCm39) |
V133E |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,580,600 (GRCm39) |
Y33F |
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 |
|
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 |
|
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'- CAGGTAGGCAGTGACCTTTCTG -3'
(R):5'- AAGAGTCCAAACCCCTGCTG -3'
Sequencing Primer
(F):5'- AGTGACCTTTCTGCCTGTTC -3'
(R):5'- GAGTCCAAACCCCTGCTGATTAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation