Mutagenetix > Incidental Mutation

Incidental Mutation 'R1499:Pax8'

168664

Institutional Source

Beutler Lab

Gene Symbol

Pax8

Ensembl Gene

ENSMUSG00000026976

Gene Name

paired box 8

Synonyms

Pax-8

MMRRC Submission

039550-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1499 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

24310572-24365611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24319608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 381 (Y381H)

Ref Sequence

ENSEMBL: ENSMUSP00000028355 (fasta)

Gene Model

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

AlphaFold

Q00288

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028355
AA Change: Y381H

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: Y381H

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

possibly damaging
Transcript: ENSMUST00000136228
AA Change: Y382H

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: Y382H

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

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

silent
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

0.4274

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

99% (83/84)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,458 (GRCm39)	Y763F	probably benign	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Actl11	A	G	9: 107,808,682 (GRCm39)	T1002A	probably damaging	Het
Ampd1	T	A	3: 102,998,980 (GRCm39)	N378K	probably damaging	Het
Arhgap42	A	G	9: 9,033,587 (GRCm39)		probably benign	Het
Arhgap6	C	A	X: 167,579,499 (GRCm39)	P95T	possibly damaging	Het
Atg14	T	C	14: 47,798,102 (GRCm39)	N87S	probably benign	Het
Atp9b	C	T	18: 80,805,353 (GRCm39)	C735Y	probably damaging	Het
Atp9b	T	A	18: 80,822,122 (GRCm39)	T110S	probably benign	Het
Birc6	T	G	17: 74,919,314 (GRCm39)	L221R	probably damaging	Het
Ces1c	A	G	8: 93,854,233 (GRCm39)	F101L	probably benign	Het
Cfap91	A	G	16: 38,141,762 (GRCm39)	V390A	probably damaging	Het
Chsy1	T	C	7: 65,821,750 (GRCm39)	Y662H	probably damaging	Het
Cldn12	A	T	5: 5,557,900 (GRCm39)	F176I	probably benign	Het
Col5a2	A	G	1: 45,450,626 (GRCm39)	S374P	probably benign	Het
Col6a2	A	T	10: 76,439,544 (GRCm39)	V740E	probably damaging	Het
Cpne3	A	T	4: 19,526,336 (GRCm39)	I401K	probably damaging	Het
Cspp1	T	A	1: 10,159,191 (GRCm39)		probably null	Het
Ddn	G	A	15: 98,704,647 (GRCm39)	T215I	possibly damaging	Het
Dync1i1	T	C	6: 5,769,799 (GRCm39)		probably benign	Het
Dync2li1	T	C	17: 84,954,667 (GRCm39)		probably benign	Het
Eif2a	T	A	3: 58,445,005 (GRCm39)	L50*	probably null	Het
Elavl3	G	A	9: 21,929,875 (GRCm39)	A343V	probably damaging	Het
Fastkd1	T	C	2: 69,538,982 (GRCm39)		probably null	Het
Fgf8	C	A	19: 45,730,786 (GRCm39)	V80F	possibly damaging	Het
Fras1	A	T	5: 96,891,046 (GRCm39)	E2858D	probably benign	Het
Fshr	A	T	17: 89,293,529 (GRCm39)	L383Q	probably damaging	Het
Glb1	A	G	9: 114,246,171 (GRCm39)	K74R	probably benign	Het
Gmeb2	T	G	2: 180,897,019 (GRCm39)	M290L	probably benign	Het
Gnptg	A	G	17: 25,454,828 (GRCm39)		probably null	Het
Grik2	A	C	10: 49,008,871 (GRCm39)	S739A	probably damaging	Het
Grk2	T	A	19: 4,337,222 (GRCm39)	Q659L	probably benign	Het
Hdhd5	A	G	6: 120,491,473 (GRCm39)	V210A	probably damaging	Het
Hyal1	C	T	9: 107,455,091 (GRCm39)	L134F	probably damaging	Het
Itgb2	A	T	10: 77,381,987 (GRCm39)	K18N	possibly damaging	Het
Jam3	A	T	9: 27,017,701 (GRCm39)	I29K	possibly damaging	Het
Kcnh3	C	A	15: 99,137,796 (GRCm39)	D830E	probably benign	Het
Kcnmb4	T	C	10: 116,309,203 (GRCm39)	D75G	possibly damaging	Het
Kdm4b	A	G	17: 56,707,025 (GRCm39)	Y981C	probably damaging	Het
Klk1b26	C	A	7: 43,665,810 (GRCm39)	D207E	probably benign	Het
Kmt2a	G	T	9: 44,759,563 (GRCm39)	T762N	probably benign	Het
Kmt2d	A	G	15: 98,742,819 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,964,876 (GRCm39)	S1414P	possibly damaging	Het
Lce1f	C	G	3: 92,626,276 (GRCm39)	C127S	unknown	Het
Map7d1	A	G	4: 126,128,558 (GRCm39)		probably null	Het
Ninl	T	C	2: 150,822,096 (GRCm39)	D2G	possibly damaging	Het
Or2w1b	T	A	13: 21,300,303 (GRCm39)	M147K	probably benign	Het
Or5k3	A	G	16: 58,969,287 (GRCm39)	T25A	probably benign	Het
Or5m11b	C	T	2: 85,806,372 (GRCm39)	P262S	possibly damaging	Het
Or6n1	T	A	1: 173,916,813 (GRCm39)	L69*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Pde7a	T	C	3: 19,314,408 (GRCm39)	I63V	possibly damaging	Het
Pgm3	A	T	9: 86,452,340 (GRCm39)	F40Y	probably benign	Het
Phrf1	G	T	7: 140,836,564 (GRCm39)	D78Y	probably damaging	Het
Plekhg1	C	T	10: 3,890,538 (GRCm39)		probably benign	Het
Prss59	A	T	6: 40,898,652 (GRCm39)	S199T	probably benign	Het
Pum1	T	C	4: 130,446,567 (GRCm39)	S209P	probably damaging	Het
Qtrt2	A	T	16: 43,689,337 (GRCm39)	F220L	probably benign	Het
Rgs9	A	G	11: 109,159,747 (GRCm39)		probably null	Het
Rin3	A	G	12: 102,335,018 (GRCm39)	T230A	unknown	Het
Ros1	A	T	10: 51,974,773 (GRCm39)	V1604E	possibly damaging	Het
Rpp14	A	G	14: 8,090,528 (GRCm38)	M151V	probably benign	Het
Sacs	T	A	14: 61,451,153 (GRCm39)	F4400I	possibly damaging	Het
Scamp1	C	T	13: 94,361,437 (GRCm39)	V148I	probably benign	Het
Slc13a5	A	G	11: 72,141,557 (GRCm39)	C428R	probably damaging	Het
Slc43a2	T	G	11: 75,453,733 (GRCm39)		probably null	Het
Smarcc2	T	A	10: 128,299,741 (GRCm39)	N135K	probably damaging	Het
Snx15	G	C	19: 6,172,094 (GRCm39)	S116R	probably damaging	Het
Stag1	A	G	9: 100,737,885 (GRCm39)	E414G	possibly damaging	Het
Stag1	A	T	9: 100,769,426 (GRCm39)		probably benign	Het
Tmem106a	T	A	11: 101,481,263 (GRCm39)	L257Q	possibly damaging	Het
Tnc	C	T	4: 63,882,991 (GRCm39)	D1968N	probably benign	Het
Trim42	A	G	9: 97,248,138 (GRCm39)	L186P	possibly damaging	Het
Tshb	T	A	3: 102,685,624 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,584,484 (GRCm39)	D13881V	probably damaging	Het
Uqcrc2	T	C	7: 120,239,506 (GRCm39)	V56A	probably benign	Het
Uty	G	A	Y: 1,197,228 (GRCm39)	T113I	probably damaging	Het
Vps13c	A	G	9: 67,864,787 (GRCm39)	E3032G	probably benign	Het
Wfdc9	T	G	2: 164,493,729 (GRCm39)		probably benign	Het
Zc3h7a	G	A	16: 10,980,520 (GRCm39)	T31I	probably damaging	Het
Zfp462	T	C	4: 55,060,046 (GRCm39)	S1191P	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
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
R5924:Pax8	UTSW	2	24,311,634 (GRCm39)	missense	probably damaging	0.97
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'- CCGCTTTAATGCACTGAAGAGGAGG -3'
(R):5'- AGTCTGGAGAATGACTGTGGCTGAG -3'

Sequencing Primer
(F):5'- CTTCTATGAAGGGAGCCCATTGAG -3'
(R):5'- GCTGAGGAGAGACGTGCC -3'

Posted On

2014-04-13