Mutagenetix > Incidental Mutation

Incidental Mutation 'R5394:Pax8'

426003

Institutional Source

Beutler Lab

Gene Symbol

Pax8

Ensembl Gene

ENSMUSG00000026976

Gene Name

paired box 8

Synonyms

Pax-8

MMRRC Submission

042966-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24420560-24475599 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 24442910 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976

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

SMART Domains

Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976

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

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187034

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (96/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	T	C	3: 92,868,698	E226G	probably damaging	Het
4930503B20Rik	A	G	3: 146,650,608	F182L	probably damaging	Het
4930503B20Rik	T	C	3: 146,650,958	Y65C	probably damaging	Het
4930590J08Rik	A	G	6: 91,919,193	T341A	probably benign	Het
4932438A13Rik	G	T	3: 36,917,668	V517F	probably damaging	Het
Adamts13	G	A	2: 26,986,558	V495I	probably benign	Het
Alms1	C	A	6: 85,623,088	T2101K	probably benign	Het
Als2	T	C	1: 59,174,946	D1361G	probably benign	Het
Ankdd1a	A	T	9: 65,505,214	M275K	probably benign	Het
Arfip2	A	T	7: 105,636,976	Y161*	probably null	Het
Asap3	A	T	4: 136,241,259	E707D	probably benign	Het
Atm	C	T	9: 53,507,777		probably null	Het
Atp9b	A	T	18: 80,776,837	S577R	probably benign	Het
Camk1d	G	C	2: 5,303,366	D274E	probably benign	Het
Cebpz	C	T	17: 78,922,205	D907N	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cnst	T	A	1: 179,601,736		probably benign	Het
Cog2	G	T	8: 124,532,529	V196L	probably benign	Het
Col11a1	A	G	3: 114,194,184		probably null	Het
Cops6	T	A	5: 138,163,500		probably null	Het
Cspg4	A	G	9: 56,890,200	E1316G	probably damaging	Het
Cwc22	G	C	2: 77,929,339	D122E	possibly damaging	Het
Dapk2	G	A	9: 66,268,718	V300M	probably benign	Het
Dcp1b	C	A	6: 119,175,367	D25E	probably damaging	Het
Ddx10	A	T	9: 53,233,857	Y273*	probably null	Het
Dhx58	T	C	11: 100,698,208	E504G	probably benign	Het
Dync2h1	C	T	9: 7,120,899	W2129*	probably null	Het
Egr4	A	T	6: 85,512,460	L206Q	probably damaging	Het
Eif4g3	A	G	4: 138,103,398		probably null	Het
Fbxo46	A	G	7: 19,136,616	N387D	possibly damaging	Het
Fpr-rs3	T	G	17: 20,624,208	M224L	probably benign	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gxylt2	A	G	6: 100,705,114	K91E	probably benign	Het
H2afy2	G	A	10: 61,751,687	T156M	possibly damaging	Het
Hecw1	A	T	13: 14,322,589	V278E	probably damaging	Het
Hydin	A	G	8: 110,539,842		probably null	Het
Iars	T	C	13: 49,722,165	L776P	probably damaging	Het
Kcnh2	T	A	5: 24,332,041	T182S	probably benign	Het
Lats2	T	G	14: 57,691,353	S1022R	probably benign	Het
Lef1	C	T	3: 131,194,659	P264S	probably damaging	Het
Lyrm1	A	C	7: 119,914,248	I79L	possibly damaging	Het
Man2b2	T	G	5: 36,814,518	Q618P	probably benign	Het
Mei1	T	C	15: 82,092,756	V180A	possibly damaging	Het
Mmp15	A	T	8: 95,366,404	N137I	probably damaging	Het
Mms22l	A	G	4: 24,517,115	D222G	possibly damaging	Het
Mut	T	A	17: 40,947,184	S414T	probably benign	Het
Myo18a	T	C	11: 77,853,350	M1846T	probably benign	Het
Neo1	A	T	9: 58,990,234	N146K	probably benign	Het
Nos3	A	G	5: 24,383,890	T1174A	probably benign	Het
Olfr1233	A	T	2: 89,339,462	I280N	probably damaging	Het
Olfr417	T	C	1: 174,369,270	Y118H	probably damaging	Het
Olfr566	A	T	7: 102,856,479	S268T	probably damaging	Het
Olfr960	A	T	9: 39,623,134	T4S	probably benign	Het
Pde5a	G	A	3: 122,818,009	C532Y	probably damaging	Het
Pigq	T	C	17: 25,931,472	D442G	possibly damaging	Het
Pik3c2g	T	C	6: 139,720,082	V43A	probably benign	Het
Pik3cb	T	C	9: 99,088,663	N325S	probably benign	Het
Pot1b	T	C	17: 55,700,063	K18R	probably benign	Het
Ppp1r42	A	T	1: 9,999,405	L144Q	probably damaging	Het
Prdm13	T	A	4: 21,679,455	Q345L	unknown	Het
Pyroxd2	T	A	19: 42,740,459	K167N	probably benign	Het
Rnf123	T	C	9: 108,070,731	Y131C	probably damaging	Het
Rnf25	T	C	1: 74,595,252	D204G	probably damaging	Het
Rpf2	G	A	10: 40,233,185	T60I	possibly damaging	Het
Scaf11	T	C	15: 96,419,458	N742D	probably benign	Het
Shank1	G	A	7: 44,352,651	D1257N	possibly damaging	Het
Shc2	A	G	10: 79,630,099	V168A	probably damaging	Het
Slc16a4	G	A	3: 107,292,442	V2M	probably benign	Het
Slc24a3	T	C	2: 145,613,574	V461A	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Slc4a4	T	A	5: 89,197,764		probably null	Het
Snx30	T	A	4: 59,879,329	D189E	probably benign	Het
Sspo	A	G	6: 48,495,260	Q4653R	possibly damaging	Het
Tpte	G	T	8: 22,327,790	R264I	probably damaging	Het
Tsc22d4	T	A	5: 137,758,774		probably benign	Het
Ubn1	T	C	16: 5,074,369	L585P	possibly damaging	Het
Usp24	A	T	4: 106,408,013	D1781V	probably damaging	Het
Utp20	A	T	10: 88,772,915	Y1514*	probably null	Het
Vmn1r55	A	T	7: 5,146,996	Y143N	probably damaging	Het
Vmn2r65	A	G	7: 84,946,654	V274A	probably benign	Het
Wdr17	A	G	8: 54,639,489	S1087P	possibly damaging	Het
Wnt5b	C	A	6: 119,440,322	R156L	probably damaging	Het
Zan	T	C	5: 137,435,634	D2279G	unknown	Het
Zan	T	C	5: 137,464,074	T948A	unknown	Het
Zfp758	T	C	17: 22,372,068	S4P	probably damaging	Het
Zfp839	A	G	12: 110,855,586	E278G	probably benign	Het
Zfp994	T	A	17: 22,200,525	H481L	probably damaging	Het
Zswim9	G	A	7: 13,260,983	R416C	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
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'- GGTGTTTGAGGAAGCACAAC -3'
(R):5'- GTACTACGAGACTGGCAGCATC -3'

Sequencing Primer
(F):5'- TGTTTGAGGAAGCACAACATAGTGTG -3'
(R):5'- TGATAGGGGGCTCCAAGC -3'

Posted On

2016-08-04