Incidental Mutation 'IGL00392:Pax8'
| ID |
7266 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pax8
|
| Ensembl Gene |
ENSMUSG00000026976 |
| Gene Name |
paired box 8 |
| Synonyms |
Pax-8 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
24310572-24365611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24333144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 66
(Y66C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028355]
[ENSMUST00000136228]
[ENSMUST00000149294]
[ENSMUST00000153535]
[ENSMUST00000153601]
|
| AlphaFold |
Q00288 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028355
AA Change: Y66C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: Y66C
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
9 |
133 |
3.1e-93 |
SMART |
|
SCOP:d1ftt__
|
221 |
247 |
8e-5 |
SMART |
|
low complexity region
|
311 |
328 |
N/A |
INTRINSIC |
|
Pfam:Pax2_C
|
344 |
456 |
2.3e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135829
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136228
AA Change: Y67C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: Y67C
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
9 |
134 |
9.13e-91 |
SMART |
|
SCOP:d1fjla_
|
221 |
248 |
8e-5 |
SMART |
|
low complexity region
|
312 |
329 |
N/A |
INTRINSIC |
|
Pfam:Pax2_C
|
342 |
404 |
1.2e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149294
AA Change: Y66C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: Y66C
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
9 |
133 |
3.1e-93 |
SMART |
|
SCOP:d1ftt__
|
221 |
247 |
3e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153535
AA Change: Y67C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120319
Gene: ENSMUSG00000026976
AA Change: Y67C
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
9 |
134 |
9.13e-91 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153601
AA Change: Y66C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976
AA Change: Y66C
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ftt__
|
23 |
49 |
1e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187034
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of a family of transcription factors that contain a characteristic N-terminal paired DNA-binding domain. The encoded protein is important for proper differentiation of the thyroid and the kidney. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age. [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 |
|---|
| Alpk3 |
T |
C |
7: 80,727,757 (GRCm39) |
Y296H |
possibly damaging |
Het |
| Armh3 |
T |
G |
19: 45,928,927 (GRCm39) |
H389P |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,464,705 (GRCm39) |
T1490A |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,987,102 (GRCm39) |
D1732V |
probably damaging |
Het |
| Capzb |
T |
C |
4: 139,016,258 (GRCm39) |
I273T |
probably benign |
Het |
| Carmil1 |
G |
A |
13: 24,278,474 (GRCm39) |
T165I |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,881,722 (GRCm39) |
|
probably benign |
Het |
| Cdh22 |
A |
G |
2: 164,954,521 (GRCm39) |
Y667H |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,815,546 (GRCm39) |
Q1823L |
probably benign |
Het |
| Cfap210 |
T |
C |
2: 69,602,328 (GRCm39) |
H361R |
probably benign |
Het |
| Cntrl |
T |
C |
2: 35,027,826 (GRCm39) |
|
probably benign |
Het |
| Dhx15 |
A |
T |
5: 52,314,924 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
A |
T |
13: 9,543,144 (GRCm39) |
D30V |
probably damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,749 (GRCm39) |
D503G |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,521,325 (GRCm39) |
I801F |
possibly damaging |
Het |
| Fnbp4 |
A |
C |
2: 90,581,966 (GRCm39) |
|
probably benign |
Het |
| Klk1b5 |
T |
A |
7: 43,865,928 (GRCm39) |
W2R |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,064,261 (GRCm39) |
K1240R |
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,403,002 (GRCm39) |
N409S |
probably benign |
Het |
| Mep1b |
A |
T |
18: 21,217,243 (GRCm39) |
K121* |
probably null |
Het |
| Mettl26 |
T |
C |
17: 26,095,098 (GRCm39) |
|
probably null |
Het |
| Myh7 |
T |
C |
14: 55,224,845 (GRCm39) |
E574G |
probably damaging |
Het |
| Nfkbie |
G |
A |
17: 45,871,139 (GRCm39) |
|
probably null |
Het |
| Nlrc4 |
T |
C |
17: 74,753,529 (GRCm39) |
R285G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,482,876 (GRCm39) |
D1523G |
probably damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,724,159 (GRCm39) |
|
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,164,363 (GRCm39) |
|
probably null |
Het |
| Ptk6 |
T |
C |
2: 180,837,611 (GRCm39) |
D436G |
probably benign |
Het |
| Robo4 |
T |
A |
9: 37,319,525 (GRCm39) |
F592I |
probably damaging |
Het |
| Sec24c |
C |
A |
14: 20,743,271 (GRCm39) |
S964R |
probably benign |
Het |
| Sgcb |
G |
T |
5: 73,793,021 (GRCm39) |
N260K |
possibly damaging |
Het |
| Smarcd2 |
T |
C |
11: 106,156,730 (GRCm39) |
D221G |
probably damaging |
Het |
| Unc13b |
C |
T |
4: 43,240,285 (GRCm39) |
R3569W |
probably damaging |
Het |
| Zfpl1 |
C |
A |
19: 6,131,137 (GRCm39) |
R285L |
possibly damaging |
Het |
|
| Other mutations in Pax8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01118:Pax8
|
APN |
2 |
24,332,944 (GRCm39) |
splice site |
probably benign |
|
|
IGL01141:Pax8
|
APN |
2 |
24,331,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01338:Pax8
|
APN |
2 |
24,325,931 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01801:Pax8
|
APN |
2 |
24,334,576 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02159:Pax8
|
APN |
2 |
24,330,800 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02727:Pax8
|
APN |
2 |
24,331,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02887:Pax8
|
APN |
2 |
24,334,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03134:Pax8
|
UTSW |
2 |
24,311,403 (GRCm39) |
unclassified |
probably benign |
|
|
R1499:Pax8
|
UTSW |
2 |
24,319,608 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1756:Pax8
|
UTSW |
2 |
24,325,833 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2051:Pax8
|
UTSW |
2 |
24,326,520 (GRCm39) |
missense |
probably benign |
|
|
R2234:Pax8
|
UTSW |
2 |
24,333,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2289:Pax8
|
UTSW |
2 |
24,330,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2306:Pax8
|
UTSW |
2 |
24,333,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Pax8
|
UTSW |
2 |
24,331,663 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4434:Pax8
|
UTSW |
2 |
24,319,621 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4592:Pax8
|
UTSW |
2 |
24,333,201 (GRCm39) |
intron |
probably benign |
|
|
R4610:Pax8
|
UTSW |
2 |
24,311,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4873:Pax8
|
UTSW |
2 |
24,331,652 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4875:Pax8
|
UTSW |
2 |
24,331,652 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5394:Pax8
|
UTSW |
2 |
24,332,922 (GRCm39) |
intron |
probably benign |
|
|
R5924:Pax8
|
UTSW |
2 |
24,311,634 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6796:Pax8
|
UTSW |
2 |
24,331,098 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7658:Pax8
|
UTSW |
2 |
24,326,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7660:Pax8
|
UTSW |
2 |
24,326,573 (GRCm39) |
missense |
probably benign |
|
|
R7690:Pax8
|
UTSW |
2 |
24,331,682 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7775:Pax8
|
UTSW |
2 |
24,325,913 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7793:Pax8
|
UTSW |
2 |
24,319,609 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7824:Pax8
|
UTSW |
2 |
24,325,913 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7859:Pax8
|
UTSW |
2 |
24,311,567 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8225:Pax8
|
UTSW |
2 |
24,312,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8520:Pax8
|
UTSW |
2 |
24,333,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9651:Pax8
|
UTSW |
2 |
24,331,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation