Mutagenetix > Incidental Mutation

Incidental Mutation 'R9438:Pax4'

713363

Institutional Source

Beutler Lab

Gene Symbol

Pax4

Ensembl Gene

ENSMUSG00000029706

Gene Name

paired box 4

Synonyms

Pax-4

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28442333-28449339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28446185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 103 (I103V)

Ref Sequence

ENSEMBL: ENSMUSP00000031718 (fasta)

Gene Model

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

AlphaFold

P32115

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031718
AA Change: I103V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: I103V

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: I103V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: I103V

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: I103V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: I103V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174194
AA Change: I103V

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
AA Change: I103V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	G	A	2: 91,033,339 (GRCm39)	M20I	probably benign	Het
Adgra1	C	T	7: 139,432,525 (GRCm39)	P121L	probably benign	Het
Arhgap39	C	A	15: 76,636,118 (GRCm39)	R39L	probably damaging	Het
Atp1b3	A	T	9: 96,215,631 (GRCm39)	N261K	possibly damaging	Het
Atp8b3	C	T	10: 80,361,409 (GRCm39)	A838T	probably damaging	Het
Cacng8	G	A	7: 3,463,919 (GRCm39)	S357N	unknown	Het
Calhm5	T	C	10: 33,972,049 (GRCm39)	M129V	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Cdk19	T	A	10: 40,352,176 (GRCm39)	D319E	probably damaging	Het
Chd6	A	G	2: 160,799,078 (GRCm39)	S2336P	probably benign	Het
Cntn1	G	A	15: 92,144,024 (GRCm39)		probably null	Het
Cts6	G	A	13: 61,350,069 (GRCm39)	T4I	probably benign	Het
Ddt	A	T	10: 75,607,332 (GRCm39)	I98N	probably damaging	Het
Diaph1	A	C	18: 38,026,443 (GRCm39)	V465G	unknown	Het
Dnah2	G	T	11: 69,364,220 (GRCm39)	D2064E	probably damaging	Het
Dnmt1	T	C	9: 20,827,190 (GRCm39)	N969D	probably benign	Het
Dot1l	T	A	10: 80,627,120 (GRCm39)	V1447E	probably benign	Het
Efs	T	A	14: 55,156,868 (GRCm39)	D389V		Het
Gbp11	T	A	5: 105,474,471 (GRCm39)	K402*	probably null	Het
Grm7	A	T	6: 111,231,077 (GRCm39)	D500V	possibly damaging	Het
Hecw1	T	C	13: 14,481,414 (GRCm39)	M439V	probably benign	Het
Ice1	A	G	13: 70,754,434 (GRCm39)	S551P	probably benign	Het
Igsf9b	T	C	9: 27,243,839 (GRCm39)	S779P	probably benign	Het
Itpr2	T	C	6: 146,068,166 (GRCm39)	N2437S	probably benign	Het
Kbtbd12	G	A	6: 88,591,040 (GRCm39)	Q391*	probably null	Het
Kcnma1	T	C	14: 23,417,653 (GRCm39)	I859V	probably benign	Het
Klri1	A	C	6: 129,675,879 (GRCm39)	D130E	probably benign	Het
Krt9	A	G	11: 100,079,824 (GRCm39)	Y523H	unknown	Het
Ldhc	G	T	7: 46,515,857 (GRCm39)	V51F	possibly damaging	Het
Macf1	G	T	4: 123,279,366 (GRCm39)	D5890E	probably benign	Het
Map4k4	A	G	1: 40,045,952 (GRCm39)	S613G	probably damaging	Het
Mrpl55	A	G	11: 59,096,581 (GRCm39)	D118G	probably damaging	Het
Muc16	T	C	9: 18,559,028 (GRCm39)	T2422A	unknown	Het
Nfkbib	T	A	7: 28,459,654 (GRCm39)	D219V	probably damaging	Het
Nsd2	A	G	5: 34,000,632 (GRCm39)	K50E	probably damaging	Het
Nudcd1	C	T	15: 44,269,321 (GRCm39)	R113H	probably benign	Het
Or5p55	A	T	7: 107,567,000 (GRCm39)	Y132F	probably damaging	Het
Or7e170	C	T	9: 19,795,083 (GRCm39)	E173K	probably benign	Het
Or7g19	T	A	9: 18,856,326 (GRCm39)	C127*	probably null	Het
Papln	A	T	12: 83,818,606 (GRCm39)	T63S	probably benign	Het
Pitpnm2	G	A	5: 124,269,342 (GRCm39)	H427Y	probably damaging	Het
Plk5	T	A	10: 80,193,867 (GRCm39)	V52E	probably damaging	Het
Prr23a4	G	A	9: 98,785,833 (GRCm39)	S166N	probably benign	Het
Rab44	A	G	17: 29,364,226 (GRCm39)	H600R	unknown	Het
Rbbp6	G	A	7: 122,599,456 (GRCm39)	V1256I		Het
Rexo1	T	A	10: 80,378,848 (GRCm39)	T1063S	possibly damaging	Het
Rp1l1	A	G	14: 64,265,574 (GRCm39)	R387G	possibly damaging	Het
Rufy3	T	C	5: 88,796,124 (GRCm39)	S603P	probably benign	Het
Setd1b	A	G	5: 123,285,944 (GRCm39)	H330R	unknown	Het
Strc	A	T	2: 121,198,647 (GRCm39)	W1415R	probably damaging	Het
Tcstv5	A	G	13: 120,411,363 (GRCm39)	L81P	probably benign	Het
Terf2	C	A	8: 107,803,504 (GRCm39)	A359S	probably benign	Het
Tmod1	A	G	4: 46,093,958 (GRCm39)	N223S	probably damaging	Het
Tram2	T	A	1: 21,075,834 (GRCm39)	I195F	possibly damaging	Het
Trap1	T	C	16: 3,883,131 (GRCm39)	Q148R	probably benign	Het
Tsks	C	T	7: 44,607,095 (GRCm39)	R143*	probably null	Het
Ttc14	T	A	3: 33,858,861 (GRCm39)	H373Q	probably damaging	Het
Ttn	T	C	2: 76,747,748 (GRCm39)	K4434E	probably benign	Het
Usp7	T	C	16: 8,522,833 (GRCm39)	D347G	probably benign	Het
Vps13d	T	C	4: 144,858,314 (GRCm39)	E2170G		Het
Xrn1	T	C	9: 95,893,287 (GRCm39)	I1001T	probably benign	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
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
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'- AGTAGCAGCTTGACGCACTC -3'
(R):5'- CACACTCAGGTATCTAATGGCTGTG -3'

Sequencing Primer
(F):5'- AGCTTGACGCACTCCCCTG -3'
(R):5'- CTGTGTGAGCAAGATCCTAGGAC -3'

Posted On

2022-05-16