Mutagenetix > Incidental Mutation

Incidental Mutation 'R5924:Pax8'

501723

Institutional Source

Beutler Lab

Gene Symbol

Pax8

Ensembl Gene

ENSMUSG00000026976

Gene Name

paired box 8

Synonyms

Pax-8

MMRRC Submission

044119-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5924 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24420560-24475599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24421622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 434 (S434P)

Ref Sequence

ENSEMBL: ENSMUSP00000028355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028355] [ENSMUST00000149294] [ENSMUST00000153601]

AlphaFold

Q00288

Predicted Effect

probably damaging
Transcript: ENSMUST00000028355
AA Change: S434P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: S434P

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

silent
Transcript: ENSMUST00000149294

SMART Domains

Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976

Domain	Start	End	E-Value	Type
PAX	9	133	3.1e-93	SMART
SCOP:d1ftt__	221	247	3e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149860

Predicted Effect

probably benign
Transcript: ENSMUST00000153601

SMART Domains

Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976

Domain	Start	End	E-Value	Type
SCOP:d1ftt__	23	49	1e-4	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 97.6%
20x: 92.7%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	C	18: 10,706,085	Y76C	probably damaging	Het
Agbl1	C	T	7: 76,409,234	T204I	probably benign	Het
Apc2	A	T	10: 80,312,150	I984F	probably damaging	Het
Art3	A	T	5: 92,412,232		probably benign	Het
B4galnt4	A	G	7: 141,070,829	M839V	probably damaging	Het
Bnip2	A	G	9: 69,997,162	D67G	probably benign	Het
Cdhr2	A	C	13: 54,726,683	D856A	probably benign	Het
Cep78	A	T	19: 15,961,066	L506Q	probably damaging	Het
Col6a1	A	G	10: 76,718,371		probably null	Het
Cyp3a44	A	T	5: 145,794,327	F221Y	possibly damaging	Het
Dcakd	C	A	11: 102,999,820	R47L	probably benign	Het
Ddr2	A	G	1: 169,994,628	V417A	probably benign	Het
Dnah5	A	T	15: 28,307,327	T1734S	probably benign	Het
Eefsec	A	T	6: 88,355,547	M227K	probably damaging	Het
Eif4g3	T	G	4: 138,201,926	N1628K	probably damaging	Het
Epha5	A	T	5: 84,233,674	Y439*	probably null	Het
Esrp1	G	T	4: 11,361,174	T324K	probably damaging	Het
Flnb	T	A	14: 7,890,765	M549K	probably benign	Het
Fndc1	T	A	17: 7,773,610	Q418L	unknown	Het
Ggnbp2	A	G	11: 84,858,537	S144P	possibly damaging	Het
Gk5	T	C	9: 96,150,510		probably null	Het
Gpr137	A	G	19: 6,939,361	L228P	probably damaging	Het
Gpt2	C	A	8: 85,493,004	S26R	probably damaging	Het
Hras	C	T	7: 141,192,461	E91K	possibly damaging	Het
Ighv1-36	G	A	12: 114,880,157	P28S	possibly damaging	Het
Kalrn	G	A	16: 34,243,833	T807M	probably damaging	Het
Lifr	A	G	15: 7,172,972	T365A	probably benign	Het
Lpin1	A	T	12: 16,544,657	S795T	possibly damaging	Het
Magi2	A	C	5: 20,611,069	M1128L	probably benign	Het
Magi3	A	T	3: 104,054,538		probably null	Het
Mier1	T	A	4: 103,159,702	L380*	probably null	Het
Mtmr14	A	G	6: 113,253,789	Y118C	probably damaging	Het
Myof	A	T	19: 37,982,973	M277K	probably damaging	Het
Nlrp6	T	C	7: 140,923,490	V473A	probably damaging	Het
Nsfl1c	T	A	2: 151,505,400	N164K	probably benign	Het
Olfm3	A	T	3: 115,122,538	Q353L	probably benign	Het
Olfr1170	T	C	2: 88,224,547	I162V	probably benign	Het
Olfr131	A	G	17: 38,082,363	V205A	probably benign	Het
Olfr727	A	G	14: 50,126,682	Y35C	probably damaging	Het
Opn5	A	T	17: 42,611,308	M1K	probably null	Het
Pigo	G	A	4: 43,023,389	Q256*	probably null	Het
Pik3ap1	A	C	19: 41,296,456	F597V	probably damaging	Het
Pkd2	A	G	5: 104,498,558	K744E	probably damaging	Het
Prom1	T	C	5: 44,004,963	T729A	probably benign	Het
Rasal1	T	C	5: 120,675,517	L652P	probably damaging	Het
Sebox	T	C	11: 78,504,191		probably null	Het
Setd2	A	T	9: 110,574,044	I1918F	probably benign	Het
Slc24a2	A	T	4: 87,011,588		probably null	Het
Slc28a1	G	T	7: 81,115,612	G25V	probably benign	Het
Slc51a	A	G	16: 32,477,172	F259L	possibly damaging	Het
Slco2a1	T	A	9: 103,046,699	C37*	probably null	Het
Speer4f2	A	G	5: 17,376,624	D188G	probably damaging	Het
Stim2	A	G	5: 54,102,643	K156E	probably benign	Het
Strn4	T	C	7: 16,838,321	I653T	probably damaging	Het
Tacr3	G	T	3: 134,932,299	D406Y	possibly damaging	Het
Utp20	G	A	10: 88,815,922	R400C	probably benign	Het
V1rd19	C	T	7: 24,003,949	S280L	probably benign	Het
Vmn2r4	C	T	3: 64,389,264	C700Y	probably damaging	Het
Zufsp	A	T	10: 33,927,547	C514S	probably damaging	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
R2289:Pax8	UTSW	2	24440740	missense	probably benign	0.00
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
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'- AGCGGCAATGCTGGAATTG -3'
(R):5'- TTTCTGGTTAGAGACTCAAAGGTGAG -3'

Sequencing Primer
(F):5'- CAATGCTGGAATTGTGGTTATTTTTC -3'
(R):5'- CTCAAAGGTGAGGCCAAAGAAAG -3'

Posted On

2017-12-01