Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Pax6'

369766

Institutional Source

Beutler Lab

Gene Symbol

Pax6

Ensembl Gene

ENSMUSG00000027168

Gene Name

paired box 6

Synonyms

Pax-6, Dickie's small eye, Gsfaey11, 1500038E17Rik, Dey, AEY11

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4816 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

105499245-105527709 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 105514129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090391] [ENSMUST00000090397] [ENSMUST00000111082] [ENSMUST00000111083] [ENSMUST00000111085] [ENSMUST00000111086] [ENSMUST00000111087] [ENSMUST00000111088] [ENSMUST00000156216] [ENSMUST00000142772] [ENSMUST00000167211]

AlphaFold

P63015

Predicted Effect

probably benign
Transcript: ENSMUST00000090391

SMART Domains

Protein: ENSMUSP00000087870
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	142	7.36e-86	SMART
low complexity region	188	199	N/A	INTRINSIC
HOX	224	286	4.93e-26	SMART
low complexity region	295	308	N/A	INTRINSIC
low complexity region	401	409	N/A	INTRINSIC
low complexity region	412	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090397

SMART Domains

Protein: ENSMUSP00000087878
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	128	6.11e-92	SMART
low complexity region	174	185	N/A	INTRINSIC
HOX	210	272	4.93e-26	SMART
low complexity region	281	294	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC
low complexity region	398	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111082

SMART Domains

Protein: ENSMUSP00000106711
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	128	6.11e-92	SMART
low complexity region	174	185	N/A	INTRINSIC
HOX	210	272	4.93e-26	SMART
low complexity region	281	294	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC
low complexity region	398	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111083

SMART Domains

Protein: ENSMUSP00000106712
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	128	6.11e-92	SMART
low complexity region	174	185	N/A	INTRINSIC
HOX	210	272	4.93e-26	SMART
low complexity region	281	294	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC
low complexity region	398	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111085

SMART Domains

Protein: ENSMUSP00000106714
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	142	7.36e-86	SMART
low complexity region	188	199	N/A	INTRINSIC
HOX	224	286	4.93e-26	SMART
low complexity region	295	308	N/A	INTRINSIC
low complexity region	401	409	N/A	INTRINSIC
low complexity region	412	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111086

SMART Domains

Protein: ENSMUSP00000106715
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	142	7.36e-86	SMART
low complexity region	188	199	N/A	INTRINSIC
HOX	224	286	4.93e-26	SMART
low complexity region	295	308	N/A	INTRINSIC
low complexity region	401	409	N/A	INTRINSIC
low complexity region	412	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111087

SMART Domains

Protein: ENSMUSP00000106716
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	128	6.11e-92	SMART
low complexity region	174	185	N/A	INTRINSIC
HOX	210	272	4.93e-26	SMART
low complexity region	281	294	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC
low complexity region	398	412	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123063

SMART Domains

Protein: ENSMUSP00000121345
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
HOX	9	71	2.5e-28	SMART
low complexity region	80	93	N/A	INTRINSIC
Blast:PAX	121	169	6e-24	BLAST
low complexity region	186	194	N/A	INTRINSIC
low complexity region	197	211	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146803

SMART Domains

Protein: ENSMUSP00000133346
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
Blast:PAX	1	62	1e-26	BLAST
HOX	74	136	4.93e-26	SMART
low complexity region	145	158	N/A	INTRINSIC
Blast:PAX	186	234	3e-23	BLAST
low complexity region	251	259	N/A	INTRINSIC
low complexity region	262	276	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138365

SMART Domains

Protein: ENSMUSP00000117154
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
PAX	33	192	4.87e-77	SMART
low complexity region	238	249	N/A	INTRINSIC
SCOP:d1b72a_	254	291	2e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153011

SMART Domains

Protein: ENSMUSP00000118457
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	2	109	4.98e-42	SMART
low complexity region	155	166	N/A	INTRINSIC
Pfam:Homeobox	192	218	7.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155081

Predicted Effect

probably benign
Transcript: ENSMUST00000111088

SMART Domains

Protein: ENSMUSP00000106717
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
HOX	39	101	4.93e-26	SMART
low complexity region	110	123	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156216

SMART Domains

Protein: ENSMUSP00000119375
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	139	1.46e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142772

Predicted Effect

probably benign
Transcript: ENSMUST00000167211

SMART Domains

Protein: ENSMUSP00000129344
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	142	7.36e-86	SMART
low complexity region	188	199	N/A	INTRINSIC
HOX	224	286	4.93e-26	SMART
low complexity region	295	308	N/A	INTRINSIC
low complexity region	401	409	N/A	INTRINSIC
low complexity region	412	426	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

MGI Phenotype

FUNCTION: This gene encodes a homeobox-containing protein that functions as a regulator of transcription. It plays a key role in the development of neural tissues, particularly the eye. Activity of this protein is also required for expression of glucagon in the pancreas. This gene is regulated by multiple enhancers located up to tens or hundreds of kilobases upstream and downstream of the transcription start sites. Mutations in this gene or deletion of these regulatory elements results in severe defects in eye development. Alternative splicing and the use of alternative promoters results in multiple transcript variants, some of which encode proteins that lack the N-terminal paired domain. [provided by RefSeq, Jul 2015]
PHENOTYPE: Null and hypomorphic mutants show a range of phenotypes from viable with small eyes and lens/cornea fusion to microphthalmia and cataract to embryonic or perinatal lethality with anophthalmia and severe craniofacial and forebrain defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,754,131 (GRCm39)	A1562S	probably benign	Het
Adam30	C	A	3: 98,070,061 (GRCm39)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,676,793 (GRCm39)	T2013A	probably damaging	Het
Ark2n	A	T	18: 77,740,995 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,269 (GRCm39)		probably benign	Het
Bicra	T	C	7: 15,722,831 (GRCm39)	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,873,190 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,040,226 (GRCm39)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,043,007 (GRCm39)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdcp2	A	G	4: 106,963,969 (GRCm39)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,244,856 (GRCm39)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,386,529 (GRCm39)	I39N	probably damaging	Het
Cep152	A	C	2: 125,405,674 (GRCm39)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,195,108 (GRCm39)	I42T	probably damaging	Het
Cfap61	G	T	2: 145,985,020 (GRCm39)	V955L	probably damaging	Het
Cit	G	A	5: 116,046,750 (GRCm39)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Cntn4	A	T	6: 106,527,458 (GRCm39)	I447L	probably benign	Het
Csmd3	T	C	15: 47,721,330 (GRCm39)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,214,905 (GRCm39)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,625,186 (GRCm39)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,466,779 (GRCm39)	T550S	probably benign	Het
Dtnb	A	G	12: 3,799,505 (GRCm39)	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,680,584 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,927 (GRCm39)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,689,001 (GRCm39)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,942,874 (GRCm39)	Y22C	probably damaging	Het
Flacc1	G	A	1: 58,709,567 (GRCm39)	A196V	probably benign	Het
Gbp3	T	C	3: 142,273,335 (GRCm39)	V294A	probably damaging	Het
Gls	A	G	1: 52,239,104 (GRCm39)		probably benign	Het
Gm15130	A	T	2: 110,965,714 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,040,728 (GRCm39)		noncoding transcript	Het
Gpr171	T	A	3: 59,005,517 (GRCm39)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,230,074 (GRCm39)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,502,794 (GRCm39)	V124E	probably damaging	Het
H2bc13	A	G	13: 21,900,135 (GRCm39)	M60T	probably benign	Het
H2-M5	A	G	17: 37,300,309 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,902,984 (GRCm39)	N2355K	probably damaging	Het
Il9r	A	C	11: 32,142,654 (GRCm39)	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,334,288 (GRCm39)	T313A	probably benign	Het
Kalrn	C	T	16: 34,334,389 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,610,661 (GRCm39)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,272,104 (GRCm39)	C242*	probably null	Het
Lipe	A	G	7: 25,079,568 (GRCm39)	S1013P	probably damaging	Het
Lrrc25	C	T	8: 71,070,726 (GRCm39)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,362,515 (GRCm39)		probably null	Het
Lrrd1	T	A	5: 3,901,126 (GRCm39)	L477*	probably null	Het
Lrriq4	A	G	3: 30,714,196 (GRCm39)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,030,840 (GRCm39)	Y1248C	unknown	Het
Maml1	G	T	11: 50,149,162 (GRCm39)	N859K	possibly damaging	Het
Mdm1	A	T	10: 117,982,782 (GRCm39)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,075,397 (GRCm39)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,101,848 (GRCm39)	K38E	probably benign	Het
Mtmr4	T	C	11: 87,494,923 (GRCm39)	V405A	probably damaging	Het
Naip5	G	A	13: 100,356,195 (GRCm39)	T1140M	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,356,189 (GRCm39)	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,433,604 (GRCm39)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,439,127 (GRCm39)	I235V	probably benign	Het
Nyap2	T	A	1: 81,219,028 (GRCm39)	L318Q	probably damaging	Het
Nynrin	G	A	14: 56,109,458 (GRCm39)	V1522M	probably damaging	Het
Oog3	A	G	4: 143,885,731 (GRCm39)	L289P	probably damaging	Het
Or52n20	C	T	7: 104,319,942 (GRCm39)	P11L	probably benign	Het
Or5b107	A	G	19: 13,142,488 (GRCm39)	I37V	probably benign	Het
Or6c69b	T	C	10: 129,627,308 (GRCm39)	D50G	probably damaging	Het
Or8b12b	T	A	9: 37,684,726 (GRCm39)	M257K	possibly damaging	Het
Or9g20	A	T	2: 85,630,391 (GRCm39)	N74K	probably benign	Het
Pbrm1	G	A	14: 30,832,405 (GRCm39)	R1441K	probably benign	Het
Pcdha9	C	T	18: 37,132,511 (GRCm39)	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,620,450 (GRCm39)	S747P	probably benign	Het
Pcnx3	A	C	19: 5,738,023 (GRCm39)		probably null	Het
Pds5a	A	T	5: 65,808,632 (GRCm39)	V413E	probably damaging	Het
Phpt1	G	T	2: 25,464,332 (GRCm39)		probably benign	Het
Phykpl	A	G	11: 51,483,780 (GRCm39)	E220G	probably benign	Het
Pias2	T	C	18: 77,193,587 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,269,639 (GRCm39)	I3302L	probably damaging	Het
Poli	A	G	18: 70,655,822 (GRCm39)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,515,284 (GRCm39)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,588,997 (GRCm39)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,359,058 (GRCm39)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,872,644 (GRCm39)	F59S	probably benign	Het
Sanbr	A	C	11: 23,565,243 (GRCm39)	I248S	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setdb2	G	A	14: 59,651,095 (GRCm39)	T412I	probably benign	Het
Shank2	C	A	7: 143,606,043 (GRCm39)	N75K	probably damaging	Het
Shank3	T	A	15: 89,427,318 (GRCm39)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm39)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,760,623 (GRCm39)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,226,362 (GRCm39)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm39)	T292A	probably benign	Het
Spag9	T	C	11: 93,939,425 (GRCm39)		probably benign	Het
Tas2r113	C	T	6: 132,870,745 (GRCm39)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,029,567 (GRCm39)	S530G	probably benign	Het
Tenm2	A	G	11: 35,918,117 (GRCm39)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,878,606 (GRCm39)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,414,646 (GRCm39)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,972,264 (GRCm39)	E195V	probably damaging	Het
Try5	T	C	6: 41,290,349 (GRCm39)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm39)		probably benign	Het
Vmn2r105	T	C	17: 20,428,953 (GRCm39)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,743,711 (GRCm39)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,887,780 (GRCm39)	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,251,599 (GRCm39)	S1304G	probably benign	Het
Zfp287	G	T	11: 62,605,074 (GRCm39)	T611K	probably damaging	Het
Zfp534	G	A	4: 147,758,743 (GRCm39)	T642I	possibly damaging	Het

Other mutations in Pax6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Pax6	APN	2	105,522,623 (GRCm39)	critical splice donor site	probably null
IGL02256:Pax6	APN	2	105,515,115 (GRCm39)	missense	probably benign	0.16
IGL02500:Pax6	APN	2	105,523,115 (GRCm39)	missense	probably benign	0.13
beady	UTSW	2	105,522,036 (GRCm39)	missense	probably damaging	1.00
red_hots	UTSW	2	105,525,705 (GRCm39)	missense	probably benign	0.00
G1citation:Pax6	UTSW	2	105,516,268 (GRCm39)	missense	probably benign	0.04
R1067:Pax6	UTSW	2	105,510,646 (GRCm39)	missense	probably benign	0.01
R1213:Pax6	UTSW	2	105,516,258 (GRCm39)	missense	probably benign	0.13
R1494:Pax6	UTSW	2	105,521,955 (GRCm39)	missense	probably benign	0.16
R1633:Pax6	UTSW	2	105,522,063 (GRCm39)	missense	probably damaging	1.00
R2291:Pax6	UTSW	2	105,516,228 (GRCm39)	missense	probably benign	0.09
R3834:Pax6	UTSW	2	105,526,795 (GRCm39)	missense	probably benign	0.00
R3835:Pax6	UTSW	2	105,526,795 (GRCm39)	missense	probably benign	0.00
R4665:Pax6	UTSW	2	105,514,343 (GRCm39)	intron	probably benign
R4714:Pax6	UTSW	2	105,525,745 (GRCm39)	missense	possibly damaging	0.74
R4747:Pax6	UTSW	2	105,526,847 (GRCm39)	missense	probably benign
R4764:Pax6	UTSW	2	105,526,847 (GRCm39)	missense	probably benign
R4767:Pax6	UTSW	2	105,525,705 (GRCm39)	missense	probably benign	0.00
R4771:Pax6	UTSW	2	105,526,847 (GRCm39)	missense	probably benign
R4772:Pax6	UTSW	2	105,526,847 (GRCm39)	missense	probably benign
R4819:Pax6	UTSW	2	105,522,622 (GRCm39)	critical splice donor site	probably null
R5418:Pax6	UTSW	2	105,521,910 (GRCm39)	missense	probably benign	0.00
R5683:Pax6	UTSW	2	105,516,252 (GRCm39)	missense	probably benign	0.06
R6041:Pax6	UTSW	2	105,514,247 (GRCm39)	missense	probably damaging	1.00
R6263:Pax6	UTSW	2	105,523,199 (GRCm39)	critical splice donor site	probably null
R6651:Pax6	UTSW	2	105,516,175 (GRCm39)	missense	probably benign	0.00
R6822:Pax6	UTSW	2	105,516,268 (GRCm39)	missense	probably benign	0.04
R7042:Pax6	UTSW	2	105,526,718 (GRCm39)	missense	probably benign
R7088:Pax6	UTSW	2	105,526,753 (GRCm39)	missense	probably benign	0.00
R7102:Pax6	UTSW	2	105,522,604 (GRCm39)	missense	probably damaging	0.98
R7294:Pax6	UTSW	2	105,515,246 (GRCm39)	nonsense	probably null
R7761:Pax6	UTSW	2	105,522,036 (GRCm39)	missense	probably damaging	1.00
R7948:Pax6	UTSW	2	105,516,222 (GRCm39)	missense	probably benign
R8882:Pax6	UTSW	2	105,521,963 (GRCm39)	missense	possibly damaging	0.96
R9151:Pax6	UTSW	2	105,523,097 (GRCm39)	missense	probably benign	0.10
R9796:Pax6	UTSW	2	105,522,541 (GRCm39)	missense	probably damaging	1.00
Z1177:Pax6	UTSW	2	105,516,161 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- GCTGAGGTTCACACAGGTTG -3'
(R):5'- TGCAGAATTCGGGAAATGTCG -3'

Sequencing Primer
(F):5'- TTCACACAGGTTGGCAGG -3'
(R):5'- TTCGGGAAATGTCGCACGG -3'

Posted On

2016-02-04