Incidental Mutation 'R2289:Pax8'
| ID |
244197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax8
|
| Ensembl Gene |
ENSMUSG00000026976 |
| Gene Name |
paired box 8 |
| Synonyms |
Pax-8 |
| MMRRC Submission |
040288-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2289 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24420560-24475599 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24440740 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 227
(D227G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028355]
[ENSMUST00000136228]
[ENSMUST00000149294]
[ENSMUST00000153535]
[ENSMUST00000153601]
|
| AlphaFold |
Q00288 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028355
AA Change: D227G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: D227G
| 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 benign
Transcript: ENSMUST00000136228
AA Change: D228G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: D228G
| 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 benign
Transcript: ENSMUST00000149294
AA Change: D227G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: D227G
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
9 |
133 |
3.1e-93 |
SMART |
|
SCOP:d1ftt__
|
221 |
247 |
3e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153535
|
| SMART Domains |
Protein: ENSMUSP00000120319
Gene: ENSMUSG00000026976
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
9 |
134 |
9.13e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153601
AA Change: D227G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976
AA Change: D227G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ftt__
|
23 |
49 |
1e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187034
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| 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 |
|---|
| 2010300C02Rik |
T |
C |
1: 37,612,261 |
K1175R |
possibly damaging |
Het |
| Atp12a |
G |
A |
14: 56,373,262 |
V288I |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,569,028 |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 |
|
probably benign |
Het |
| Dcaf10 |
T |
A |
4: 45,359,816 |
W244R |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,683,872 |
|
probably null |
Het |
| Dlg4 |
T |
A |
11: 70,026,926 |
Y12N |
probably damaging |
Het |
| Fsd1l |
T |
A |
4: 53,696,931 |
Y442N |
possibly damaging |
Het |
| Gm156 |
T |
C |
6: 129,768,177 |
N152S |
probably null |
Het |
| Grm7 |
G |
T |
6: 110,646,348 |
V161F |
probably damaging |
Het |
| Hcrt |
C |
A |
11: 100,761,919 |
A90S |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,818,529 |
V119D |
probably damaging |
Het |
| Lman1l |
T |
A |
9: 57,613,658 |
E220V |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,176,106 |
S1215T |
possibly damaging |
Het |
| Loxl2 |
G |
A |
14: 69,693,075 |
E763K |
probably benign |
Het |
| Mcrip1 |
T |
C |
11: 120,544,704 |
E35G |
probably damaging |
Het |
| Nle1 |
T |
A |
11: 82,903,053 |
I386F |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 107,392,998 |
I8V |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,930,752 |
E26K |
possibly damaging |
Het |
| Phf14 |
T |
C |
6: 12,047,846 |
C885R |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 75,910,927 |
C251G |
probably damaging |
Het |
| Samd13 |
C |
T |
3: 146,662,691 |
A49T |
probably damaging |
Het |
| Snrpa1 |
T |
A |
7: 66,063,838 |
V101E |
probably benign |
Het |
| Styx |
A |
G |
14: 45,354,947 |
E20G |
possibly damaging |
Het |
| Thoc1 |
T |
C |
18: 9,984,488 |
Y325H |
probably damaging |
Het |
| Tmem163 |
T |
A |
1: 127,495,740 |
T262S |
possibly damaging |
Het |
| Tsr1 |
T |
G |
11: 74,899,285 |
L102R |
probably damaging |
Het |
| Vash1 |
G |
C |
12: 86,680,178 |
R64P |
probably damaging |
Het |
| Vps13b |
A |
C |
15: 35,572,105 |
D956A |
probably damaging |
Het |
| Vrk1 |
G |
A |
12: 106,057,861 |
G199S |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,775,442 |
T427M |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 32,883,360 |
S333T |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,950,039 |
Y140H |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,901,862 |
|
probably null |
Het |
|
| Other mutations in Pax8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Pax8
|
APN |
2 |
24443132 |
missense |
probably damaging |
1.00 |
|
IGL01118:Pax8
|
APN |
2 |
24442932 |
splice site |
probably benign |
|
|
IGL01141:Pax8
|
APN |
2 |
24441150 |
missense |
probably damaging |
1.00 |
|
IGL01338:Pax8
|
APN |
2 |
24435919 |
missense |
possibly damaging |
0.93 |
|
IGL01801:Pax8
|
APN |
2 |
24444564 |
critical splice donor site |
probably null |
|
|
IGL02159:Pax8
|
APN |
2 |
24440788 |
missense |
possibly damaging |
0.56 |
|
IGL02727:Pax8
|
APN |
2 |
24441630 |
missense |
probably damaging |
0.98 |
|
IGL02887:Pax8
|
APN |
2 |
24444615 |
missense |
probably damaging |
1.00 |
|
IGL03134:Pax8
|
UTSW |
2 |
24421391 |
unclassified |
probably benign |
|
|
R1499:Pax8
|
UTSW |
2 |
24429596 |
missense |
possibly damaging |
0.92 |
|
R1756:Pax8
|
UTSW |
2 |
24435821 |
missense |
probably damaging |
0.98 |
|
R2051:Pax8
|
UTSW |
2 |
24436508 |
missense |
probably benign |
|
|
R2234:Pax8
|
UTSW |
2 |
24443102 |
missense |
probably damaging |
1.00 |
|
R2306:Pax8
|
UTSW |
2 |
24443045 |
missense |
probably damaging |
1.00 |
|
R4328:Pax8
|
UTSW |
2 |
24441651 |
missense |
possibly damaging |
0.92 |
|
R4434:Pax8
|
UTSW |
2 |
24429609 |
missense |
possibly damaging |
0.93 |
|
R4592:Pax8
|
UTSW |
2 |
24443189 |
intron |
probably benign |
|
|
R4610:Pax8
|
UTSW |
2 |
24421583 |
missense |
probably damaging |
0.99 |
|
R4873:Pax8
|
UTSW |
2 |
24441640 |
missense |
probably benign |
0.04 |
|
R4875:Pax8
|
UTSW |
2 |
24441640 |
missense |
probably benign |
0.04 |
|
R5394:Pax8
|
UTSW |
2 |
24442910 |
intron |
probably benign |
|
|
R5924:Pax8
|
UTSW |
2 |
24421622 |
missense |
probably damaging |
0.97 |
|
R6796:Pax8
|
UTSW |
2 |
24441086 |
missense |
probably benign |
0.04 |
|
R7658:Pax8
|
UTSW |
2 |
24436511 |
missense |
probably benign |
0.00 |
|
R7660:Pax8
|
UTSW |
2 |
24436561 |
missense |
probably benign |
|
|
R7690:Pax8
|
UTSW |
2 |
24441670 |
missense |
probably benign |
0.37 |
|
R7775:Pax8
|
UTSW |
2 |
24435901 |
missense |
possibly damaging |
0.93 |
|
R7793:Pax8
|
UTSW |
2 |
24429597 |
missense |
possibly damaging |
0.85 |
|
R7824:Pax8
|
UTSW |
2 |
24435901 |
missense |
possibly damaging |
0.93 |
|
R7859:Pax8
|
UTSW |
2 |
24421555 |
missense |
possibly damaging |
0.93 |
|
R8225:Pax8
|
UTSW |
2 |
24422971 |
missense |
probably damaging |
0.99 |
|
R8520:Pax8
|
UTSW |
2 |
24443022 |
missense |
probably damaging |
1.00 |
|
R9651:Pax8
|
UTSW |
2 |
24441161 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGATGGCTAGAGGACATGC -3'
(R):5'- TCTGAGGCTCCCTTTCACAG -3'
Sequencing Primer
(F):5'- ATGGCTAGAGGACATGCTTTGC -3'
(R):5'- TTTCACAGGAGCATTGGCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation