Incidental Mutation 'R2306:Pax8'
| ID |
244579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax8
|
| Ensembl Gene |
ENSMUSG00000026976 |
| Gene Name |
paired box 8 |
| Synonyms |
Pax-8 |
| MMRRC Submission |
040305-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2306 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24310572-24365611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24333057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 96
(Y96F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028355]
[ENSMUST00000136228]
[ENSMUST00000149294]
[ENSMUST00000153535]
[ENSMUST00000153601]
|
| AlphaFold |
Q00288 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028355
AA Change: Y95F
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: Y95F
| 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: Y96F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: Y96F
| 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: Y95F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: Y95F
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
9 |
133 |
3.1e-93 |
SMART |
|
SCOP:d1ftt__
|
221 |
247 |
3e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153535
AA Change: Y96F
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120319
Gene: ENSMUSG00000026976
AA Change: Y96F
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
9 |
134 |
9.13e-91 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153601
AA Change: Y95F
PolyPhen 2
Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976
AA Change: Y95F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ftt__
|
23 |
49 |
1e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187034
|
| Meta Mutation Damage Score |
0.7553 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
100% (34/34) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
G |
A |
17: 43,024,010 (GRCm39) |
H154Y |
possibly damaging |
Het |
| Arhgef7 |
T |
A |
8: 11,862,680 (GRCm39) |
Y501* |
probably null |
Het |
| Atmin |
T |
C |
8: 117,684,389 (GRCm39) |
F683S |
probably benign |
Het |
| Bcat1 |
A |
G |
6: 144,953,379 (GRCm39) |
V403A |
probably damaging |
Het |
| C4b |
T |
G |
17: 34,947,492 (GRCm39) |
M1729L |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,159,224 (GRCm39) |
S2185P |
probably damaging |
Het |
| Crispld2 |
T |
G |
8: 120,752,810 (GRCm39) |
V286G |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,010 (GRCm39) |
|
probably null |
Het |
| Dnai1 |
T |
C |
4: 41,625,239 (GRCm39) |
V401A |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Ifitm2 |
T |
A |
7: 140,535,702 (GRCm39) |
T43S |
probably damaging |
Het |
| Mark1 |
A |
T |
1: 184,633,058 (GRCm39) |
|
probably benign |
Het |
| Mme |
A |
G |
3: 63,207,673 (GRCm39) |
I40V |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nfatc2 |
A |
C |
2: 168,432,023 (GRCm39) |
F30C |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,633,609 (GRCm39) |
V251D |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,811,327 (GRCm39) |
E187G |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,684,520 (GRCm39) |
D1183V |
probably damaging |
Het |
| Reln |
T |
G |
5: 22,101,784 (GRCm39) |
D3382A |
probably damaging |
Het |
| Rfc3 |
A |
G |
5: 151,567,243 (GRCm39) |
L271P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 141,948,455 (GRCm39) |
A600V |
probably benign |
Het |
| Sfr1 |
T |
C |
19: 47,723,291 (GRCm39) |
I265T |
probably damaging |
Het |
| Syt13 |
G |
A |
2: 92,771,312 (GRCm39) |
R133H |
probably benign |
Het |
| Tmem231 |
A |
T |
8: 112,645,503 (GRCm39) |
V132D |
probably damaging |
Het |
| Tmem247 |
C |
A |
17: 87,225,869 (GRCm39) |
A103E |
probably benign |
Het |
| Unc119b |
A |
T |
5: 115,263,534 (GRCm39) |
Y223* |
probably null |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,473 (GRCm39) |
F37L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,895,275 (GRCm39) |
Y3627N |
probably damaging |
Het |
| Zfp292 |
C |
A |
4: 34,809,468 (GRCm39) |
S1192I |
probably damaging |
Het |
|
| Other mutations in Pax8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Pax8
|
APN |
2 |
24,333,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCTTCGTGTTTCTTACAGG -3'
(R):5'- TCCAGTGTTAAGATGAGCAGG -3'
Sequencing Primer
(F):5'- AGGACTCTTCCAGAACCCTAGGG -3'
(R):5'- AGGGCCATGTCTCAGTTCCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation