Mutagenetix > Incidental Mutation

Incidental Mutation 'R7054:Pax4'

547766

Institutional Source

Beutler Lab

Gene Symbol

Pax4

Ensembl Gene

ENSMUSG00000029706

Gene Name

paired box 4

Synonyms

Pax-4

MMRRC Submission

045151-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28442333-28449339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28446322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 57 (I57T)

Ref Sequence

ENSEMBL: ENSMUSP00000134470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031718] [ENSMUST00000164519] [ENSMUST00000171089] [ENSMUST00000174194]

AlphaFold

P32115

Predicted Effect

probably damaging
Transcript: ENSMUST00000031718
AA Change: I57T

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

SMART Domains

Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: I57T

Domain	Start	End	E-Value	Type
PAX	5	129	8.08e-83	SMART
HOX	170	232	8.92e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164519
AA Change: I57T

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

SMART Domains

Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: I57T

Domain	Start	End	E-Value	Type
PAX	5	129	8.08e-83	SMART
HOX	170	232	8.92e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171089
AA Change: I57T

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

SMART Domains

Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: I57T

Domain	Start	End	E-Value	Type
PAX	5	129	8.08e-83	SMART
HOX	170	232	8.92e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174194
AA Change: I57T

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

SMART Domains

Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
AA Change: I57T

Domain	Start	End	E-Value	Type
PAX	5	129	8.08e-83	SMART
HOX	139	190	2.22e-10	SMART

Meta Mutation Damage Score

0.8899

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (67/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation lack mature insulin- and somatostatin-producing cells (beta and delta, respectively) in the pancreas, but contain glucagon-producing alpha cells in considerably higher numbers relative to wild-type mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,486 (GRCm39)	H44L	unknown	Het
Abcc3	T	C	11: 94,256,051 (GRCm39)	K478R	probably benign	Het
Ank2	A	T	3: 126,736,952 (GRCm39)		probably benign	Het
Apod	A	G	16: 31,129,950 (GRCm39)	V2A	probably benign	Het
Armh4	C	A	14: 50,011,155 (GRCm39)	S184I	probably damaging	Het
Aspg	T	A	12: 112,092,824 (GRCm39)	D530E	probably damaging	Het
Atxn7	A	T	14: 14,100,878 (GRCm38)	T855S	probably benign	Het
Blmh	G	C	11: 76,859,451 (GRCm39)	G351R	probably damaging	Het
Cc2d2a	C	T	5: 43,857,321 (GRCm39)	R454*	probably null	Het
Cenpp	T	C	13: 49,619,233 (GRCm39)	E188G	probably damaging	Het
Cimip3	A	G	17: 47,748,114 (GRCm39)		probably null	Het
Creg2	T	C	1: 39,662,376 (GRCm39)	E252G	probably benign	Het
Dot1l	A	G	10: 80,622,857 (GRCm39)	Y636C	probably damaging	Het
Dpy30	A	G	17: 74,614,835 (GRCm39)	I36T	probably benign	Het
Eed	A	G	7: 89,613,935 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,195,353 (GRCm39)	D351G	unknown	Het
Fra10ac1	C	T	19: 38,212,567 (GRCm39)		probably benign	Het
Gdpd4	T	A	7: 97,623,136 (GRCm39)	I249N	probably damaging	Het
Glb1l2	A	T	9: 26,676,423 (GRCm39)	V600D	probably null	Het
Gm13889	A	T	2: 93,787,459 (GRCm39)		probably benign	Het
Gm17654	T	A	14: 43,813,327 (GRCm39)	N188Y		Het
Gm3327	T	C	14: 44,363,732 (GRCm39)	F112S		Het
H2-Ab1	T	C	17: 34,482,316 (GRCm39)	S11P	probably benign	Het
Hcn4	T	C	9: 58,763,000 (GRCm39)	S522P	unknown	Het
Hfm1	T	C	5: 107,043,909 (GRCm39)	T576A	probably benign	Het
Hoxa1	A	G	6: 52,135,180 (GRCm39)	S8P	probably damaging	Het
Hoxd13	A	G	2: 74,499,369 (GRCm39)	Y239C	probably damaging	Het
Ifih1	T	A	2: 62,440,859 (GRCm39)	I485L	probably benign	Het
Ift52	G	A	2: 162,871,716 (GRCm39)	V183M	probably damaging	Het
Ikbkb	A	G	8: 23,161,658 (GRCm39)	V410A	possibly damaging	Het
Il22ra1	G	A	4: 135,478,473 (GRCm39)	V515I	probably benign	Het
Klk1b3	A	T	7: 43,850,863 (GRCm39)	I132F	probably damaging	Het
Limk2	T	C	11: 3,305,448 (GRCm39)	T206A	possibly damaging	Het
Llph	A	T	10: 120,067,240 (GRCm39)		probably benign	Het
Lrrc26	T	A	2: 25,180,087 (GRCm39)	D29E	probably benign	Het
Ltbp4	A	G	7: 27,007,191 (GRCm39)		probably null	Het
Mageb3	A	T	2: 121,784,973 (GRCm39)	V243E	probably damaging	Het
Mfhas1	T	C	8: 36,055,792 (GRCm39)	V89A	probably benign	Het
Mycbp2	G	A	14: 103,393,534 (GRCm39)	T2899I	possibly damaging	Het
Nckap5	A	T	1: 126,186,449 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,275,619 (GRCm39)	D530G	probably null	Het
Or10ag55-ps1	T	A	2: 87,114,775 (GRCm39)	M47K	probably benign	Het
Or56a3b	C	T	7: 104,771,170 (GRCm39)	R169*	probably null	Het
Peg12	T	C	7: 62,113,711 (GRCm39)	I129V	possibly damaging	Het
Pex6	G	A	17: 47,031,447 (GRCm39)	A416T	probably benign	Het
Pgghg	G	A	7: 140,524,631 (GRCm39)	R326H	probably benign	Het
Pgk2	T	A	17: 40,519,366 (GRCm39)	M21L	probably benign	Het
Polh	A	T	17: 46,509,642 (GRCm39)	W64R	probably benign	Het
Rassf7	T	A	7: 140,797,556 (GRCm39)	H256Q	probably benign	Het
Rc3h2	A	G	2: 37,265,258 (GRCm39)	M1184T	probably benign	Het
Ror1	A	T	4: 100,299,436 (GRCm39)	E936D	probably benign	Het
Skic3	G	A	13: 76,283,079 (GRCm39)	A769T	probably damaging	Het
Slco1b2	A	T	6: 141,617,974 (GRCm39)	T440S	probably damaging	Het
Specc1	T	A	11: 62,008,604 (GRCm39)	V40E	probably damaging	Het
Tarbp1	T	A	8: 127,201,234 (GRCm39)	S191C	possibly damaging	Het
Timm22	A	G	11: 76,298,071 (GRCm39)	E14G	possibly damaging	Het
Tpp2	T	A	1: 44,022,318 (GRCm39)	D905E	probably damaging	Het
Trav7-5	T	C	14: 53,768,756 (GRCm39)	L108P	probably damaging	Het
Ttc9b	A	G	7: 27,353,667 (GRCm39)	T106A	probably benign	Het
Ttn	T	C	2: 76,545,012 (GRCm39)	S32697G	probably damaging	Het
Usp17la	T	G	7: 104,510,514 (GRCm39)	L373R	probably benign	Het
Vmn1r113	A	G	7: 20,521,427 (GRCm39)	N73S	probably benign	Het
Vmn1r42	T	C	6: 89,822,051 (GRCm39)	T173A	possibly damaging	Het
Vmn2r106	A	G	17: 20,499,182 (GRCm39)	V243A	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r25	T	A	6: 123,800,569 (GRCm39)	D591V	probably damaging	Het
Zc3h13	T	C	14: 75,559,227 (GRCm39)	S379P	probably benign	Het
Zfp870	T	C	17: 33,102,456 (GRCm39)	Y292C	probably damaging	Het
Zfp977	A	T	7: 42,229,786 (GRCm39)	N246K	possibly damaging	Het
Zp1	G	A	19: 10,896,104 (GRCm39)	T207M	probably damaging	Het

Other mutations in Pax4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03150:Pax4	APN	6	28,444,338 (GRCm39)	missense	probably null	1.00
R0034:Pax4	UTSW	6	28,442,448 (GRCm39)	missense	probably benign
R1523:Pax4	UTSW	6	28,444,840 (GRCm39)	missense	probably damaging	1.00
R1828:Pax4	UTSW	6	28,443,446 (GRCm39)	missense	probably benign	0.02
R2014:Pax4	UTSW	6	28,446,209 (GRCm39)	missense	probably benign	0.01
R4037:Pax4	UTSW	6	28,443,882 (GRCm39)	missense	probably benign	0.00
R5117:Pax4	UTSW	6	28,446,278 (GRCm39)	missense	probably benign	0.43
R5163:Pax4	UTSW	6	28,446,269 (GRCm39)	missense	probably damaging	1.00
R5182:Pax4	UTSW	6	28,444,368 (GRCm39)	missense	probably benign	0.19
R5200:Pax4	UTSW	6	28,445,138 (GRCm39)	missense	probably damaging	1.00
R5713:Pax4	UTSW	6	28,446,184 (GRCm39)	missense	probably damaging	1.00
R5902:Pax4	UTSW	6	28,447,126 (GRCm39)	missense	probably benign	0.22
R6185:Pax4	UTSW	6	28,446,347 (GRCm39)	missense	probably damaging	1.00
R6744:Pax4	UTSW	6	28,442,396 (GRCm39)	missense	probably benign	0.00
R6923:Pax4	UTSW	6	28,447,118 (GRCm39)	critical splice donor site	probably null
R7165:Pax4	UTSW	6	28,446,136 (GRCm39)	missense	probably damaging	1.00
R8133:Pax4	UTSW	6	28,442,513 (GRCm39)	missense	probably benign
R9110:Pax4	UTSW	6	28,445,201 (GRCm39)	missense	probably benign
R9438:Pax4	UTSW	6	28,446,185 (GRCm39)	missense	possibly damaging	0.94
Z1177:Pax4	UTSW	6	28,442,462 (GRCm39)	missense	possibly damaging	0.71
Z1177:Pax4	UTSW	6	28,442,459 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGTACAAAGCCCTTCAGTG -3'
(R):5'- GCAGGGTTTCCTCCTAGAAGAC -3'

Sequencing Primer
(F):5'- CCTTCAGTGCAAAGCTGGTG -3'
(R):5'- GAGTTTTAGGTGCCCAACAATG -3'

Posted On

2019-05-13