Mutagenetix > Incidental Mutation

Incidental Mutation 'R7660:Pax8'

591476

Institutional Source

Beutler Lab

Gene Symbol

Pax8

Ensembl Gene

ENSMUSG00000026976

Gene Name

paired box 8

Synonyms

Pax-8

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7660 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24420560-24475599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24436561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 263 (Y263C)

Ref Sequence

ENSEMBL: ENSMUSP00000028355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028355] [ENSMUST00000136228] [ENSMUST00000149294] [ENSMUST00000153535] [ENSMUST00000153601]

AlphaFold

Q00288

Predicted Effect

probably benign
Transcript: ENSMUST00000028355
AA Change: Y263C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: Y263C

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

probably benign
Transcript: ENSMUST00000136228
AA Change: Y264C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: Y264C

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: Y263C

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: Y263C

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

SMART Domains

Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976

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

Meta Mutation Damage Score

0.2740

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (70/70)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,860,719	H142L	possibly damaging	Het
Abca13	A	G	11: 9,290,678	E847G	probably benign	Het
Abca9	T	A	11: 110,115,452	T1276S	probably benign	Het
Abcb11	C	T	2: 69,287,594		probably null	Het
AF366264	A	T	8: 13,837,995	I32K	probably benign	Het
Alpk1	G	C	3: 127,680,967	H462Q	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atm	C	T	9: 53,445,507	V2815M	probably benign	Het
Braf	T	C	6: 39,623,641	I681V	possibly damaging	Het
Casc3	C	G	11: 98,809,873	R4G	unknown	Het
Crybg1	T	C	10: 43,998,835	D759G	probably damaging	Het
Csrp2	A	G	10: 110,937,763	N103S	probably benign	Het
Faf1	A	T	4: 109,861,837	H380L	probably damaging	Het
Farp1	G	A	14: 121,276,922	A888T	probably benign	Het
Fat4	A	T	3: 38,981,160	Q2987L	probably benign	Het
Fkbp15	T	A	4: 62,314,341	T665S	probably benign	Het
Gigyf1	T	C	5: 137,520,969	S343P	probably benign	Het
Glrx3	A	G	7: 137,459,225	Y196C	probably damaging	Het
Gm3278	T	G	14: 4,893,349	L66R	probably damaging	Het
Gm8298	A	G	3: 59,865,268	I64M	probably benign	Het
Ick	G	C	9: 78,167,620	V586L	probably benign	Het
Ifi205	A	G	1: 174,028,248	V72A	probably benign	Het
Ift140	T	G	17: 25,051,824	L708R	probably damaging	Het
Ints13	A	T	6: 146,557,338	L328M	probably benign	Het
Itfg2	A	G	6: 128,424,746	I23T	probably damaging	Het
Ldha	C	T	7: 46,850,257	P100S	unknown	Het
Lmtk2	T	A	5: 144,148,340	L210H	probably damaging	Het
Lrrc4	T	A	6: 28,829,817	I600L	probably benign	Het
Map2	C	A	1: 66,414,377	P809T	probably damaging	Het
Matn2	A	G	15: 34,402,946	K439R	probably benign	Het
Matn2	T	A	15: 34,423,728	C577*	probably null	Het
Mep1a	C	T	17: 43,478,977	G494S	probably benign	Het
Mtmr4	T	C	11: 87,604,580	F488L	probably damaging	Het
Mtus1	G	T	8: 41,016,211	T8K	probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Mybpc1	T	C	10: 88,548,854	T523A	possibly damaging	Het
Ncoa3	C	T	2: 166,069,321	P1334S	probably benign	Het
Neb	T	G	2: 52,249,439	M119L		Het
Nox4	T	C	7: 87,370,022	Y408H	probably damaging	Het
Nxpe3	C	T	16: 55,844,327	R510Q	probably damaging	Het
Olfr1077-ps1	A	T	2: 86,525,830	S116T	possibly damaging	Het
Olfr1275	C	T	2: 111,231,615	M59I	probably damaging	Het
Olfr48	T	C	2: 89,844,443	T177A	probably benign	Het
Olfr484	A	G	7: 108,124,834	V143A	probably benign	Het
Olfr807	C	A	10: 129,754,563	E296*	probably null	Het
Olfr839-ps1	T	C	9: 19,175,508	H56R	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pcdha11	T	A	18: 37,005,851	Y178N	probably benign	Het
Pcdhga11	C	T	18: 37,757,130	T397M	possibly damaging	Het
Pdlim5	G	T	3: 142,259,185	H428N	probably damaging	Het
Pigg	G	A	5: 108,338,619	V713I	probably benign	Het
Rgs3	A	G	4: 62,701,112	D478G	possibly damaging	Het
Scgb2b11	C	T	7: 32,210,458	E68K	probably damaging	Het
Sema4b	C	A	7: 80,220,247	Q428K	probably benign	Het
Serpine2	T	C	1: 79,802,905	T276A	probably benign	Het
Sgo2b	G	A	8: 63,940,074	H110Y	probably benign	Het
Slc12a7	T	C	13: 73,806,089	L833S	probably benign	Het
Slc6a15	T	A	10: 103,393,380		probably null	Het
Srfbp1	G	A	18: 52,475,599	V24I	probably damaging	Het
Stpg2	A	T	3: 139,701,697	N537Y	probably damaging	Het
Svep1	A	T	4: 58,087,782	S1766T	probably benign	Het
Tiam2	T	A	17: 3,482,605	M1K	probably null	Het
Tmem245	A	T	4: 56,899,170	I661K	possibly damaging	Het
Trim5	T	C	7: 104,279,362	H124R	probably damaging	Het
Trim67	T	A	8: 124,820,285	L478Q	probably damaging	Het
Triml2	A	G	8: 43,193,320	D282G	probably damaging	Het
Txndc11	T	C	16: 11,087,929	Y579C	probably damaging	Het
Ube3c	T	A	5: 29,619,631	D551E	probably damaging	Het
Vmn1r194	T	C	13: 22,244,597	V128A	not run	Het
Vmn2r70	T	G	7: 85,568,922	N56T	probably damaging	Het
Vmn2r-ps130	T	A	17: 23,077,032	D725E	probably damaging	Het
Wdr95	T	C	5: 149,594,480	V501A	possibly damaging	Het
Zc3h8	T	C	2: 128,930,822	T249A	probably damaging	Het
Zfp54	T	C	17: 21,434,239	C332R	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
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
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'- AGTCAGCAGAGCCTATTTCTCC -3'
(R):5'- AAGTCCTGGGAGAGTTCTGG -3'

Sequencing Primer
(F):5'- AGCAGAGCCTATTTCTCCTTTCCAG -3'
(R):5'- AGAGTTCTGGGGCTCTGAG -3'

Posted On

2019-11-12