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

24310572-24365611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24311634 bp (GRCm39)

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 (GRCm39)	Y76C	probably damaging	Het
Agbl1	C	T	7: 76,058,982 (GRCm39)	T204I	probably benign	Het
Apc2	A	T	10: 80,147,984 (GRCm39)	I984F	probably damaging	Het
Art3	A	T	5: 92,560,091 (GRCm39)		probably benign	Het
B4galnt4	A	G	7: 140,650,742 (GRCm39)	M839V	probably damaging	Het
Bnip2	A	G	9: 69,904,444 (GRCm39)	D67G	probably benign	Het
Cdhr2	A	C	13: 54,874,496 (GRCm39)	D856A	probably benign	Het
Cep78	A	T	19: 15,938,430 (GRCm39)	L506Q	probably damaging	Het
Col6a1	A	G	10: 76,554,205 (GRCm39)		probably null	Het
Cyp3a44	A	T	5: 145,731,137 (GRCm39)	F221Y	possibly damaging	Het
Dcakd	C	A	11: 102,890,646 (GRCm39)	R47L	probably benign	Het
Ddr2	A	G	1: 169,822,197 (GRCm39)	V417A	probably benign	Het
Dnah5	A	T	15: 28,307,473 (GRCm39)	T1734S	probably benign	Het
Eefsec	A	T	6: 88,332,529 (GRCm39)	M227K	probably damaging	Het
Eif4g3	T	G	4: 137,929,237 (GRCm39)	N1628K	probably damaging	Het
Epha5	A	T	5: 84,381,533 (GRCm39)	Y439*	probably null	Het
Esrp1	G	T	4: 11,361,174 (GRCm39)	T324K	probably damaging	Het
Flnb	T	A	14: 7,890,765 (GRCm38)	M549K	probably benign	Het
Fndc1	T	A	17: 7,992,442 (GRCm39)	Q418L	unknown	Het
Ggnbp2	A	G	11: 84,749,363 (GRCm39)	S144P	possibly damaging	Het
Gk5	T	C	9: 96,032,563 (GRCm39)		probably null	Het
Gpr137	A	G	19: 6,916,729 (GRCm39)	L228P	probably damaging	Het
Gpt2	C	A	8: 86,219,633 (GRCm39)	S26R	probably damaging	Het
Hras	C	T	7: 140,772,374 (GRCm39)	E91K	possibly damaging	Het
Ighv1-36	G	A	12: 114,843,777 (GRCm39)	P28S	possibly damaging	Het
Kalrn	G	A	16: 34,064,203 (GRCm39)	T807M	probably damaging	Het
Lifr	A	G	15: 7,202,453 (GRCm39)	T365A	probably benign	Het
Lpin1	A	T	12: 16,594,658 (GRCm39)	S795T	possibly damaging	Het
Magi2	A	C	5: 20,816,067 (GRCm39)	M1128L	probably benign	Het
Magi3	A	T	3: 103,961,854 (GRCm39)		probably null	Het
Mier1	T	A	4: 103,016,899 (GRCm39)	L380*	probably null	Het
Mtmr14	A	G	6: 113,230,750 (GRCm39)	Y118C	probably damaging	Het
Myof	A	T	19: 37,971,421 (GRCm39)	M277K	probably damaging	Het
Nlrp6	T	C	7: 140,503,403 (GRCm39)	V473A	probably damaging	Het
Nsfl1c	T	A	2: 151,347,320 (GRCm39)	N164K	probably benign	Het
Olfm3	A	T	3: 114,916,187 (GRCm39)	Q353L	probably benign	Het
Opn5	A	T	17: 42,922,199 (GRCm39)	M1K	probably null	Het
Or2y3	A	G	17: 38,393,254 (GRCm39)	V205A	probably benign	Het
Or4k15	A	G	14: 50,364,139 (GRCm39)	Y35C	probably damaging	Het
Or5d41	T	C	2: 88,054,891 (GRCm39)	I162V	probably benign	Het
Pigo	G	A	4: 43,023,389 (GRCm39)	Q256*	probably null	Het
Pik3ap1	A	C	19: 41,284,895 (GRCm39)	F597V	probably damaging	Het
Pkd2	A	G	5: 104,646,424 (GRCm39)	K744E	probably damaging	Het
Prom1	T	C	5: 44,162,305 (GRCm39)	T729A	probably benign	Het
Rasal1	T	C	5: 120,813,582 (GRCm39)	L652P	probably damaging	Het
Sebox	T	C	11: 78,395,017 (GRCm39)		probably null	Het
Setd2	A	T	9: 110,403,112 (GRCm39)	I1918F	probably benign	Het
Slc24a2	A	T	4: 86,929,825 (GRCm39)		probably null	Het
Slc28a1	G	T	7: 80,765,360 (GRCm39)	G25V	probably benign	Het
Slc51a	A	G	16: 32,295,990 (GRCm39)	F259L	possibly damaging	Het
Slco2a1	T	A	9: 102,923,898 (GRCm39)	C37*	probably null	Het
Speer4f2	A	G	5: 17,581,622 (GRCm39)	D188G	probably damaging	Het
Stim2	A	G	5: 54,259,985 (GRCm39)	K156E	probably benign	Het
Strn4	T	C	7: 16,572,246 (GRCm39)	I653T	probably damaging	Het
Tacr3	G	T	3: 134,638,060 (GRCm39)	D406Y	possibly damaging	Het
Utp20	G	A	10: 88,651,784 (GRCm39)	R400C	probably benign	Het
V1rd19	C	T	7: 23,703,374 (GRCm39)	S280L	probably benign	Het
Vmn2r4	C	T	3: 64,296,685 (GRCm39)	C700Y	probably damaging	Het
Zup1	A	T	10: 33,803,543 (GRCm39)	C514S	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
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
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'- AGCGGCAATGCTGGAATTG -3'
(R):5'- TTTCTGGTTAGAGACTCAAAGGTGAG -3'

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

Posted On

2017-12-01