Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02887:Pax8'

363814

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pax8

Ensembl Gene

ENSMUSG00000026976

Gene Name

paired box 8

Synonyms

Pax-8

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02887

Quality Score

Status

Chromosome

Chromosomal Location

24310572-24365611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24334627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 48 (S48P)

Ref Sequence

ENSEMBL: ENSMUSP00000134343 (fasta)

Gene Model

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

AlphaFold

Q00288

Predicted Effect

probably damaging
Transcript: ENSMUST00000028355
AA Change: S48P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: S48P

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 damaging
Transcript: ENSMUST00000136228
AA Change: S48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: S48P

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 damaging
Transcript: ENSMUST00000149294
AA Change: S48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: S48P

Domain	Start	End	E-Value	Type
PAX	9	133	3.1e-93	SMART
SCOP:d1ftt__	221	247	3e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000153535
AA Change: S48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120319
Gene: ENSMUSG00000026976
AA Change: S48P

Domain	Start	End	E-Value	Type
PAX	9	134	9.13e-91	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000153601
AA Change: S48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976
AA Change: S48P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187034

Coding Region Coverage

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,166,168 (GRCm39)	Y69H	probably damaging	Het
Afap1l2	A	T	19: 56,908,995 (GRCm39)	S310R	probably damaging	Het
Aldh7a1	A	G	18: 56,675,288 (GRCm39)		probably benign	Het
Anxa8	T	A	14: 33,818,481 (GRCm39)		probably null	Het
Ap1ar	T	C	3: 127,602,192 (GRCm39)	E282G	probably damaging	Het
Arl6ip6	T	G	2: 53,092,939 (GRCm39)	S155A	probably benign	Het
Armc9	T	C	1: 86,092,557 (GRCm39)	F107S	probably damaging	Het
Ash1l	C	A	3: 88,891,488 (GRCm39)	D1122E	probably benign	Het
Atp2b4	T	A	1: 133,656,512 (GRCm39)	I713F	probably damaging	Het
BC005624	A	C	2: 30,863,317 (GRCm39)		probably benign	Het
Calcrl	T	C	2: 84,169,586 (GRCm39)	D365G	probably benign	Het
Ccdc110	A	G	8: 46,396,221 (GRCm39)	N704S	probably benign	Het
Ccr10	G	T	11: 101,065,492 (GRCm39)	L13I	probably benign	Het
Cfap52	A	G	11: 67,844,341 (GRCm39)	Y125H	probably damaging	Het
Cnr2	C	A	4: 135,644,936 (GRCm39)	T338K	possibly damaging	Het
Cntn2	T	A	1: 132,444,308 (GRCm39)	D935V	probably damaging	Het
Cog7	T	C	7: 121,543,067 (GRCm39)	K448R	possibly damaging	Het
Csnk1g2	G	A	10: 80,474,369 (GRCm39)	D197N	probably damaging	Het
Cyp2e1	T	A	7: 140,343,824 (GRCm39)	S21T	probably damaging	Het
Dcaf11	T	C	14: 55,801,592 (GRCm39)	F187L	probably damaging	Het
Dmd	T	A	X: 82,922,110 (GRCm39)	F1460Y	probably benign	Het
Dnah11	G	A	12: 117,874,775 (GRCm39)	A4030V	probably damaging	Het
Dnah7a	A	G	1: 53,561,519 (GRCm39)	V2046A	possibly damaging	Het
Dnajc6	T	C	4: 101,496,497 (GRCm39)	I820T	probably damaging	Het
Dsel	T	C	1: 111,788,462 (GRCm39)	D691G	possibly damaging	Het
Fbp1	T	A	13: 63,016,894 (GRCm39)	M203L	probably benign	Het
Fndc1	T	C	17: 7,992,470 (GRCm39)	T409A	unknown	Het
Golgb1	T	G	16: 36,746,211 (GRCm39)	L2930R	probably damaging	Het
Htr2a	A	G	14: 74,882,583 (GRCm39)	T190A	probably benign	Het
Klra4	C	T	6: 130,021,033 (GRCm39)	C254Y	probably damaging	Het
Large1	A	T	8: 73,858,667 (GRCm39)	V67E	probably benign	Het
Lins1	T	C	7: 66,363,931 (GRCm39)	S609P	probably damaging	Het
Magi3	T	C	3: 104,002,473 (GRCm39)	E156G	probably damaging	Het
Mdh1b	A	G	1: 63,754,523 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,037 (GRCm39)	D276G	probably benign	Het
Myh9	T	A	15: 77,680,220 (GRCm39)	K185*	probably null	Het
Myof	T	C	19: 37,909,227 (GRCm39)		probably null	Het
Naip2	T	G	13: 100,298,020 (GRCm39)	Y672S	possibly damaging	Het
Nbeal1	A	G	1: 60,326,603 (GRCm39)		probably benign	Het
Nbeal2	T	A	9: 110,457,344 (GRCm39)	H2273L	probably damaging	Het
Neb	T	C	2: 52,090,733 (GRCm39)	K1346E	possibly damaging	Het
Nfatc2	T	C	2: 168,346,370 (GRCm39)	D908G	probably damaging	Het
Nlgn2	T	C	11: 69,718,080 (GRCm39)	N375S	probably benign	Het
Nova1	G	T	12: 46,767,505 (GRCm39)	Q139K	unknown	Het
Opa3	A	T	7: 18,962,507 (GRCm39)	Q47L	probably damaging	Het
Or10g7	T	A	9: 39,905,109 (GRCm39)	M1K	probably null	Het
Or2t47	A	G	11: 58,442,987 (GRCm39)	L26P	probably damaging	Het
Or6c205	T	A	10: 129,086,794 (GRCm39)	Y130*	probably null	Het
Pacs1	A	T	19: 5,185,138 (GRCm39)		probably benign	Het
Pappa2	T	A	1: 158,609,829 (GRCm39)	H1544L	probably damaging	Het
Pdilt	T	C	7: 119,097,272 (GRCm39)	N70S	possibly damaging	Het
Poldip3	T	C	15: 83,013,469 (GRCm39)		probably benign	Het
Ppp6r1	T	A	7: 4,645,211 (GRCm39)	I80F	probably damaging	Het
Pycr2	T	A	1: 180,732,304 (GRCm39)		probably null	Het
Rapgef2	C	T	3: 78,976,187 (GRCm39)		probably benign	Het
Rbm44	T	A	1: 91,080,902 (GRCm39)	D363E	probably damaging	Het
Rnf213	A	T	11: 119,318,336 (GRCm39)	I1046F	probably damaging	Het
Ryr2	A	G	13: 11,606,155 (GRCm39)	S4476P	probably damaging	Het
Scara5	G	A	14: 66,000,278 (GRCm39)	D483N	unknown	Het
Scmh1	T	A	4: 120,325,586 (GRCm39)	F101Y	probably damaging	Het
Sgo2a	T	A	1: 58,055,511 (GRCm39)	V565E	probably damaging	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Skint6	T	A	4: 113,095,381 (GRCm39)	R93*	probably null	Het
Skint7	T	C	4: 111,839,375 (GRCm39)	V223A	possibly damaging	Het
Slc25a2	T	C	18: 37,770,939 (GRCm39)	I197V	probably benign	Het
Slit2	A	G	5: 48,374,816 (GRCm39)	T361A	probably benign	Het
Sugp1	G	A	8: 70,522,776 (GRCm39)	G492D	probably damaging	Het
Svep1	C	T	4: 58,145,301 (GRCm39)	G388D	probably damaging	Het
Tbpl2	G	T	2: 23,983,888 (GRCm39)	A183E	probably damaging	Het
Tcerg1l	G	T	7: 137,831,619 (GRCm39)	P453T	probably damaging	Het
Tdpoz2	T	C	3: 93,559,046 (GRCm39)	T309A	probably benign	Het
Thbs4	T	A	13: 92,927,306 (GRCm39)	Y61F	probably benign	Het
Tmem117	C	A	15: 94,992,656 (GRCm39)	P439T	probably damaging	Het
Tmem151a	A	G	19: 5,132,993 (GRCm39)	V71A	probably benign	Het
Tmem268	G	T	4: 63,486,691 (GRCm39)		probably benign	Het
Tmem43	T	A	6: 91,454,356 (GRCm39)	Y48N	possibly damaging	Het
Tmigd1	T	C	11: 76,804,812 (GRCm39)	V217A	probably benign	Het
Tmprss11g	A	T	5: 86,645,188 (GRCm39)		probably benign	Het
Tsn	T	C	1: 118,237,551 (GRCm39)	I38V	probably benign	Het
Ttc41	A	T	10: 86,569,518 (GRCm39)	Y632F	probably damaging	Het
Vmn2r117	C	T	17: 23,694,552 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,238,351 (GRCm39)	I463N	probably benign	Het
Wdsub1	T	A	2: 59,683,176 (GRCm39)	N466I	probably damaging	Het
Zdhhc21	A	T	4: 82,762,427 (GRCm39)	I56N	probably benign	Het
Zfand4	A	G	6: 116,250,617 (GRCm39)	T16A	possibly damaging	Het
Zmym4	T	C	4: 126,842,268 (GRCm39)	E15G	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
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
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

Posted On

2015-12-18