Incidental Mutation 'R4466:Sox8'
| ID |
330369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox8
|
| Ensembl Gene |
ENSMUSG00000024176 |
| Gene Name |
SRY (sex determining region Y)-box 8 |
| Synonyms |
|
| MMRRC Submission |
041723-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4466 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25784866-25789660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25787879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 190
(G190V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025003]
[ENSMUST00000173447]
|
| AlphaFold |
Q04886 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025003
AA Change: G190V
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025003
Gene: ENSMUSG00000024176
AA Change: G190V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sox_N
|
18 |
86 |
3.8e-27 |
PFAM |
|
HMG
|
98 |
168 |
3.86e-28 |
SMART |
|
low complexity region
|
208 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163493
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173447
AA Change: G190V
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000133403
Gene: ENSMUSG00000024176
AA Change: G190V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sox_N
|
3 |
87 |
3.3e-25 |
PFAM |
|
HMG
|
98 |
168 |
3.86e-28 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174560
AA Change: G87V
|
| SMART Domains |
Protein: ENSMUSP00000133742
Gene: ENSMUSG00000024176
AA Change: G87V
| Domain | Start | End | E-Value | Type |
|---|
|
HMG
|
1 |
66 |
1.19e-19 |
SMART |
|
| Meta Mutation Damage Score |
0.0682 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (55/56) |
| 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 activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a 30% decrease in adult body weight due to diminished fat stores, and a reduction of several tarsals which subsequently fail to fuse. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
A |
T |
3: 59,745,887 (GRCm39) |
|
noncoding transcript |
Het |
| Adgra1 |
T |
A |
7: 139,420,752 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,252,521 (GRCm39) |
|
probably null |
Het |
| Amn1 |
T |
C |
6: 149,068,343 (GRCm39) |
|
probably null |
Het |
| Ano5 |
T |
A |
7: 51,220,023 (GRCm39) |
F374I |
probably damaging |
Het |
| Apol7c |
T |
C |
15: 77,410,664 (GRCm39) |
E94G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,307,095 (GRCm39) |
S117C |
probably damaging |
Het |
| Atm |
C |
A |
9: 53,359,469 (GRCm39) |
E2778* |
probably null |
Het |
| Cped1 |
A |
T |
6: 22,123,651 (GRCm39) |
Q468L |
probably benign |
Het |
| Crygb |
A |
G |
1: 65,119,645 (GRCm39) |
S112P |
probably damaging |
Het |
| Eeig2 |
T |
A |
3: 108,887,124 (GRCm39) |
R291S |
probably benign |
Het |
| Eml4 |
C |
T |
17: 83,729,103 (GRCm39) |
Q93* |
probably null |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,684,969 (GRCm39) |
S457T |
probably damaging |
Het |
| Frmd4b |
A |
G |
6: 97,300,614 (GRCm39) |
|
probably null |
Het |
| Gm5134 |
G |
C |
10: 75,844,409 (GRCm39) |
K588N |
probably benign |
Het |
| Gpr21 |
A |
G |
2: 37,407,570 (GRCm39) |
T39A |
probably benign |
Het |
| Irx1 |
C |
A |
13: 72,108,101 (GRCm39) |
G194W |
probably damaging |
Het |
| Itgal |
C |
T |
7: 126,927,684 (GRCm39) |
T992I |
possibly damaging |
Het |
| Itpr3 |
T |
C |
17: 27,325,316 (GRCm39) |
L1303P |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,370,328 (GRCm39) |
D1052E |
probably damaging |
Het |
| Klhl6 |
T |
C |
16: 19,776,018 (GRCm39) |
D180G |
probably damaging |
Het |
| M6pr |
A |
G |
6: 122,290,228 (GRCm39) |
T64A |
probably benign |
Het |
| Mrpl47 |
G |
A |
3: 32,784,240 (GRCm39) |
R177* |
probably null |
Het |
| Mtfr2 |
A |
G |
10: 20,224,159 (GRCm39) |
Y31C |
probably damaging |
Het |
| Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
| Oas2 |
A |
G |
5: 120,887,667 (GRCm39) |
S58P |
probably damaging |
Het |
| Or1j11 |
A |
T |
2: 36,312,308 (GRCm39) |
R299S |
probably benign |
Het |
| Or5b124 |
G |
A |
19: 13,610,801 (GRCm39) |
E109K |
probably damaging |
Het |
| Or8b36 |
T |
A |
9: 37,937,479 (GRCm39) |
C126S |
probably damaging |
Het |
| Polr1b |
A |
T |
2: 128,965,802 (GRCm39) |
I815L |
probably benign |
Het |
| Psma8 |
T |
C |
18: 14,854,231 (GRCm39) |
I37T |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,483,447 (GRCm39) |
E4100G |
possibly damaging |
Het |
| Serpina3g |
C |
T |
12: 104,204,182 (GRCm39) |
|
probably benign |
Het |
| Serpina3m |
A |
T |
12: 104,357,874 (GRCm39) |
Y266F |
probably damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,559,023 (GRCm39) |
D423E |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,299,688 (GRCm39) |
E224G |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
| Slc24a2 |
A |
T |
4: 87,146,099 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
A |
G |
1: 189,614,349 (GRCm39) |
M393T |
probably benign |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
| Stk35 |
C |
A |
2: 129,643,436 (GRCm39) |
T140K |
probably damaging |
Het |
| Taf6 |
A |
C |
5: 138,179,463 (GRCm39) |
|
probably benign |
Het |
| Ten1 |
A |
C |
11: 116,095,823 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,544,044 (GRCm39) |
F32981L |
probably damaging |
Het |
| Zik1 |
G |
T |
7: 10,224,893 (GRCm39) |
T68K |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,815,485 (GRCm39) |
I2935N |
probably damaging |
Het |
|
| Other mutations in Sox8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01417:Sox8
|
APN |
17 |
25,786,502 (GRCm39) |
splice site |
probably null |
|
|
IGL01918:Sox8
|
APN |
17 |
25,789,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02672:Sox8
|
APN |
17 |
25,787,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03371:Sox8
|
APN |
17 |
25,786,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Sox8
|
UTSW |
17 |
25,786,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1673:Sox8
|
UTSW |
17 |
25,786,456 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1742:Sox8
|
UTSW |
17 |
25,786,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4019:Sox8
|
UTSW |
17 |
25,789,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Sox8
|
UTSW |
17 |
25,786,309 (GRCm39) |
makesense |
probably null |
|
|
R4893:Sox8
|
UTSW |
17 |
25,787,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4929:Sox8
|
UTSW |
17 |
25,789,330 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5915:Sox8
|
UTSW |
17 |
25,786,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Sox8
|
UTSW |
17 |
25,786,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Sox8
|
UTSW |
17 |
25,786,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Sox8
|
UTSW |
17 |
25,789,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7232:Sox8
|
UTSW |
17 |
25,786,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7549:Sox8
|
UTSW |
17 |
25,786,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8262:Sox8
|
UTSW |
17 |
25,786,617 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8862:Sox8
|
UTSW |
17 |
25,787,045 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9015:Sox8
|
UTSW |
17 |
25,789,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9109:Sox8
|
UTSW |
17 |
25,787,813 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9387:Sox8
|
UTSW |
17 |
25,786,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9406:Sox8
|
UTSW |
17 |
25,786,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9646:Sox8
|
UTSW |
17 |
25,786,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Sox8
|
UTSW |
17 |
25,787,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sox8
|
UTSW |
17 |
25,786,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTAGATGGAGCTAGGC -3'
(R):5'- TAGGTCCTTGGCAAGTCTGGAG -3'
Sequencing Primer
(F):5'- TTTTTACAAGGGATCGGGGAAGACC -3'
(R):5'- TTGGCAAGTCTGGAGCTCCG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation