Mutagenetix > Incidental Mutation

Incidental Mutation 'R6185:Pax4'

502099

Institutional Source

Beutler Lab

Gene Symbol

Pax4

Ensembl Gene

ENSMUSG00000029706

Gene Name

paired box 4

Synonyms

Pax-4

MMRRC Submission

044325-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28442333-28449339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28446347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 49 (V49I)

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: V49I

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

SMART Domains

Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: V49I

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: V49I

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

SMART Domains

Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: V49I

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: V49I

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

SMART Domains

Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: V49I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174036

Predicted Effect

probably damaging
Transcript: ENSMUST00000174194
AA Change: V49I

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

SMART Domains

Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
AA Change: V49I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174423

Meta Mutation Damage Score

0.7187

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,078,089 (GRCm39)	H894Q	probably benign	Het
Abca4	A	T	3: 121,919,789 (GRCm39)	I1024F	probably damaging	Het
Acadl	A	G	1: 66,877,522 (GRCm39)	V343A	possibly damaging	Het
Akr1e1	T	A	13: 4,651,252 (GRCm39)	I123L	probably benign	Het
Angptl2	T	C	2: 33,119,026 (GRCm39)	S267P	probably benign	Het
Ap2a1	T	G	7: 44,565,594 (GRCm39)	K91T	probably damaging	Het
Bend7	A	T	2: 4,793,333 (GRCm39)	Q379L	probably damaging	Het
Bicdl1	C	T	5: 115,808,212 (GRCm39)		probably null	Het
Cachd1	C	A	4: 100,838,228 (GRCm39)	Y830*	probably null	Het
Ccdc158	T	A	5: 92,814,713 (GRCm39)	I38F	possibly damaging	Het
Cep97	T	A	16: 55,735,455 (GRCm39)	M448L	probably benign	Het
Chd9	A	G	8: 91,775,765 (GRCm39)	D2572G	probably damaging	Het
Clcnkb	C	T	4: 141,141,825 (GRCm39)	V54M	probably benign	Het
Cln8	A	G	8: 14,946,544 (GRCm39)	D186G	probably benign	Het
Crxos	C	T	7: 15,636,805 (GRCm39)	S22L	possibly damaging	Het
Cx3cr1	A	T	9: 119,880,444 (GRCm39)	H319Q	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Dmrta1	A	G	4: 89,580,005 (GRCm39)	R322G	probably damaging	Het
Dpf1	A	G	7: 29,010,696 (GRCm39)	E103G	possibly damaging	Het
Dsg1b	T	G	18: 20,532,543 (GRCm39)	V529G	probably benign	Het
Dst	G	A	1: 34,212,161 (GRCm39)	V1361I	probably damaging	Het
Epha4	T	C	1: 77,483,743 (GRCm39)	I89V	probably damaging	Het
Etfdh	G	T	3: 79,513,114 (GRCm39)	H370N	probably benign	Het
Fam186a	A	G	15: 99,845,530 (GRCm39)	I238T	unknown	Het
Fbxl5	T	A	5: 43,978,894 (GRCm39)	S19C	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fryl	A	G	5: 73,270,131 (GRCm39)	V367A	probably benign	Het
Gm19410	T	A	8: 36,274,664 (GRCm39)	L1495H	possibly damaging	Het
Gm19965	A	G	1: 116,749,003 (GRCm39)	E228G	possibly damaging	Het
Gpr89	C	A	3: 96,798,149 (GRCm39)	C169F	probably damaging	Het
Hmcn1	A	T	1: 150,491,189 (GRCm39)		probably null	Het
Hsph1	A	T	5: 149,541,160 (GRCm39)	C753S	probably damaging	Het
Igf2	T	A	7: 142,212,118 (GRCm39)	S4C	possibly damaging	Het
Kansl3	A	T	1: 36,385,099 (GRCm39)	S486T	probably damaging	Het
Khdrbs1	G	C	4: 129,636,068 (GRCm39)		probably benign	Het
Lnx1	A	T	5: 74,846,269 (GRCm39)	C60*	probably null	Het
Lrpprc	T	C	17: 85,074,452 (GRCm39)	D485G	probably benign	Het
Ly6i	A	T	15: 74,851,879 (GRCm39)	S97T	possibly damaging	Het
Me2	G	A	18: 73,924,199 (GRCm39)	Q338*	probably null	Het
Med16	A	T	10: 79,732,197 (GRCm39)	L790Q	probably damaging	Het
Muc16	G	T	9: 18,565,769 (GRCm39)	T2250K	unknown	Het
Myo10	T	G	15: 25,726,596 (GRCm39)	F273C	probably damaging	Het
Neil3	T	A	8: 54,052,182 (GRCm39)	H472L	probably benign	Het
Nrxn1	T	A	17: 90,344,564 (GRCm39)	S57C	probably damaging	Het
Nup188	A	T	2: 30,231,722 (GRCm39)	T1439S	probably damaging	Het
Or10g3	T	C	14: 52,610,019 (GRCm39)	T164A	possibly damaging	Het
Or10g7	T	C	9: 39,905,420 (GRCm39)	F105L	probably benign	Het
Or5w10	A	G	2: 87,375,087 (GRCm39)	M267T	possibly damaging	Het
Otud7a	T	A	7: 63,408,133 (GRCm39)	L812Q	probably damaging	Het
Paip2b	C	T	6: 83,786,952 (GRCm39)	A95T	probably benign	Het
Plek	C	T	11: 16,931,829 (GRCm39)	A341T	probably damaging	Het
Prkag1	G	A	15: 98,723,595 (GRCm39)	P10L	probably benign	Het
R3hdm1	A	C	1: 128,079,598 (GRCm39)	D15A	possibly damaging	Het
Rad54b	A	T	4: 11,593,804 (GRCm39)	D144V	possibly damaging	Het
Rmi2	C	T	16: 10,704,073 (GRCm39)	T138I	probably benign	Het
Sbf1	A	G	15: 89,189,814 (GRCm39)	L379P	probably damaging	Het
Sec14l3	A	T	11: 4,025,244 (GRCm39)	I285F	probably damaging	Het
Sec31b	A	T	19: 44,531,723 (GRCm39)	I62N	possibly damaging	Het
Selp	A	G	1: 163,953,915 (GRCm39)	N72D	probably damaging	Het
Sipa1l1	T	A	12: 82,471,802 (GRCm39)	S1261T	probably damaging	Het
Sipa1l2	A	T	8: 126,194,992 (GRCm39)	Y915*	probably null	Het
Slc22a27	A	T	19: 7,903,953 (GRCm39)	D61E	probably benign	Het
Slc2a7	A	G	4: 150,233,450 (GRCm39)	T8A	probably benign	Het
Slc5a2	T	C	7: 127,870,349 (GRCm39)	I529T	probably damaging	Het
Spart	A	C	3: 55,024,640 (GRCm39)	Q78H	probably damaging	Het
Spocd1	T	C	4: 129,850,242 (GRCm39)	I756T	probably benign	Het
Stc1	G	A	14: 69,275,813 (GRCm39)	C202Y	probably damaging	Het
Stk10	A	G	11: 32,527,749 (GRCm39)	T166A	probably benign	Het
Syt6	A	T	3: 103,492,844 (GRCm39)	D32V	probably damaging	Het
Tanc1	T	A	2: 59,621,929 (GRCm39)		probably null	Het
Tanc2	T	A	11: 105,803,865 (GRCm39)	N297K	probably damaging	Het
Telo2	A	G	17: 25,321,014 (GRCm39)	S734P	probably benign	Het
Tfrc	T	A	16: 32,437,090 (GRCm39)	Y250N	probably benign	Het
Tmem97	C	T	11: 78,434,388 (GRCm39)	W65*	probably null	Het
Ubr3	T	C	2: 69,768,621 (GRCm39)	M476T	probably damaging	Het
Ubtf	T	C	11: 102,204,849 (GRCm39)	T117A	probably damaging	Het
Usp17lb	T	A	7: 104,490,631 (GRCm39)	M99L	probably benign	Het
Uvrag	A	C	7: 98,790,039 (GRCm39)		probably null	Het
Vmn2r63	A	G	7: 42,578,435 (GRCm39)	S153P	probably damaging	Het
Vmn2r90	A	T	17: 17,953,644 (GRCm39)	T603S	probably damaging	Het
Vps8	C	A	16: 21,288,891 (GRCm39)	L417I	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
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
R7054:Pax4	UTSW	6	28,446,322 (GRCm39)	missense	probably damaging	1.00
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'- CTGGGTACAAAGCCCTTCAG -3'
(R):5'- AGGGTTTCCTCCTAGAAGACCC -3'

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

Posted On

2018-02-27