Mutagenetix > Incidental Mutation

Incidental Mutation 'R7793:Pax8'

600008

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 #

R7793 (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 24429597 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 354 (D354G)

Ref Sequence

ENSEMBL: ENSMUSP00000115194 (fasta)

Gene Model

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

AlphaFold

Q00288

Predicted Effect

silent
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

silent
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

possibly damaging
Transcript: ENSMUST00000149294
AA Change: D354G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: D354G

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: ENSMUST00000153601
AA Change: D271G

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

SMART Domains

Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976
AA Change: D271G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (94/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	G	7: 30,699,943	I54S	probably damaging	Het
2310002L09Rik	C	T	4: 73,942,935	V143M	probably benign	Het
2610507B11Rik	C	T	11: 78,273,205	P1124L	possibly damaging	Het
Abca1	T	C	4: 53,042,367	I1902V	not run	Het
AI314180	T	C	4: 58,853,150	N395S	probably damaging	Het
Apob	A	C	12: 8,008,124	D2202A	probably damaging	Het
Arhgap44	T	A	11: 65,009,924	S623C	probably damaging	Het
Arhgef7	T	A	8: 11,824,507	W713R	possibly damaging	Het
Axdnd1	A	C	1: 156,338,743		probably null	Het
Bcl9l	T	C	9: 44,508,966	M1223T	probably benign	Het
Bcl9l	C	A	9: 44,509,697	H1467N	probably damaging	Het
Brinp3	A	G	1: 146,746,568	N236S	probably benign	Het
Cckbr	T	G	7: 105,433,591	L54V	probably benign	Het
Cd6	G	A	19: 10,798,358	Q246*	probably null	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Ces3a	T	A	8: 105,055,661		probably null	Het
Cgnl1	T	A	9: 71,725,635	N145Y	probably damaging	Het
Col6a5	T	C	9: 105,898,735	D1707G	probably damaging	Het
Cyp2w1	A	G	5: 139,356,140	T103A	probably damaging	Het
Dip2a	A	T	10: 76,278,583	I1021N	probably benign	Het
Dnah2	T	C	11: 69,495,214	T981A	probably benign	Het
Dnah8	A	G	17: 30,855,944	I4546V	probably benign	Het
E2f8	A	C	7: 48,878,075	F106L	probably benign	Het
Eif4g1	G	A	16: 20,688,614	V1413I	probably benign	Het
Epha10	G	A	4: 124,914,453	V688I	probably benign	Het
Exoc2	A	T	13: 30,911,178	V245D	probably benign	Het
Eya4	T	A	10: 23,226,816	E23D	probably benign	Het
Fbxw10	T	A	11: 62,847,387	W36R	possibly damaging	Het
Gabbr1	G	A	17: 37,047,501	G44S	probably benign	Het
Gabrg3	T	A	7: 57,179,580	Q143L	probably benign	Het
Gm14412	A	C	2: 177,315,867	I78M	possibly damaging	Het
Gm35339	T	C	15: 76,359,107	L989P		Het
Gm3854	C	T	7: 6,353,887	S233L	probably damaging	Het
Gm7298	T	C	6: 121,760,604		probably null	Het
Hpse2	A	T	19: 43,388,070	L81Q	probably damaging	Het
Il18r1	A	G	1: 40,471,764	H3R	probably benign	Het
Kansl1l	T	C	1: 66,778,014	K396E	probably damaging	Het
Kbtbd3	T	A	9: 4,331,221	S532T	probably damaging	Het
Lrrtm4	T	C	6: 80,022,858	Y418H	probably damaging	Het
Mfng	G	A	15: 78,773,065	R70C	probably damaging	Het
Mx2	T	A	16: 97,546,883	I236K	probably damaging	Het
Mysm1	T	C	4: 94,965,132	Q410R	probably damaging	Het
Nlrp12	T	C	7: 3,245,400	N100S	probably benign	Het
Nlrp4b	T	A	7: 10,725,074	H773Q	probably benign	Het
Nlrp5	T	A	7: 23,423,918	S735T	possibly damaging	Het
Nt5c2	G	A	19: 46,891,581	R363W	probably benign	Het
Olfr139	T	A	11: 74,044,788	H162L	possibly damaging	Het
Olfr361	A	G	2: 37,084,921	F276L	possibly damaging	Het
Otud7b	A	T	3: 96,155,211	Y589F	probably benign	Het
P2rx1	T	A	11: 73,009,253	C165*	probably null	Het
Pdcd11	G	A	19: 47,106,432	V552I	probably benign	Het
Pde6c	G	T	19: 38,159,753	C485F	possibly damaging	Het
Pex5	T	C	6: 124,399,341	Y434C	probably benign	Het
Ppargc1a	T	C	5: 51,462,509		probably null	Het
Prss2	A	T	6: 41,524,952	D224V	possibly damaging	Het
Psd2	A	G	18: 36,002,979	N440S	probably benign	Het
Psmb3	T	A	11: 97,712,439	D159E	probably benign	Het
Ptgr2	T	G	12: 84,307,801	L252R	probably damaging	Het
Ptpro	A	T	6: 137,416,820	N829Y	probably damaging	Het
Rhobtb2	C	A	14: 69,796,831	R315L	probably benign	Het
Rimbp2	A	T	5: 128,789,695	V520D	possibly damaging	Het
Schip1	A	T	3: 68,494,578	Y24F	probably benign	Het
Sdha	A	T	13: 74,331,436	V432E	probably damaging	Het
Sez6	T	C	11: 77,977,600	L929P	probably damaging	Het
Shcbp1l	A	G	1: 153,447,825	I466V	probably benign	Het
Skor1	T	C	9: 63,144,885	S601G	probably damaging	Het
Slc6a7	A	C	18: 61,005,779	L219R	probably damaging	Het
Smok2a	T	C	17: 13,225,626	M30T	possibly damaging	Het
Sp8	A	G	12: 118,849,409	D333G	probably damaging	Het
Spp1	G	A	5: 104,440,334	D201N	probably damaging	Het
Sstr3	A	T	15: 78,540,388	L53Q	probably damaging	Het
Tacc2	T	A	7: 130,623,113	N509K	probably benign	Het
Tdrd1	T	C	19: 56,864,377	V1030A	probably damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Tgm3	G	A	2: 130,012,410		probably null	Het
Tomm5	C	A	4: 45,106,651	L88F	unknown	Het
Trak1	T	A	9: 121,416,198	C46*	probably null	Het
Trim8	A	T	19: 46,515,614	D535V	probably damaging	Het
Trpm7	A	T	2: 126,824,075	Y870*	probably null	Het
Tspoap1	T	C	11: 87,764,310	L286P	probably benign	Het
Ttll3	AAGTA	AAGTAGAGTA	6: 113,399,159		probably null	Het
Ttn	T	A	2: 76,732,045	I28819F	probably damaging	Het
Twf2	T	C	9: 106,211,880	S89P	probably damaging	Het
Ulk4	C	T	9: 121,263,668	E168K	possibly damaging	Het
Unc13b	T	A	4: 43,172,737	N1188K	unknown	Het
Utp6	C	T	11: 79,937,730	V528I	probably benign	Het
Vmn1r78	T	C	7: 12,153,314	F284S	probably benign	Het
Vmn2r54	T	A	7: 12,632,269	Q246L	probably damaging	Het
Vmn2r87	A	G	10: 130,477,544	M451T	probably benign	Het
Vwf	C	T	6: 125,686,520	P2808L		Het
Wwc1	T	C	11: 35,869,109	Q693R	probably benign	Het
Zfp658	T	A	7: 43,574,684	H794Q	possibly damaging	Het
Zfp882	A	G	8: 71,913,141	D8G	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
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
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'- CTCTGGGATGCCTATGAGTGAG -3'
(R):5'- CAGAGAAGGACTGCAGTTGC -3'

Sequencing Primer
(F):5'- TGCCTATGAGTGAGACATAGCCTG -3'
(R):5'- AAGGACTGCAGTTGCCTGGG -3'

Posted On

2019-11-26