Mutagenetix > Incidental Mutation

Incidental Mutation 'R7084:Padi6'

549737

Institutional Source

Beutler Lab

Gene Symbol

Padi6

Ensembl Gene

ENSMUSG00000040935

Gene Name

peptidyl arginine deiminase, type VI

Synonyms

ePAD, Padi5, Pad6

MMRRC Submission

045178-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140454666-140469954 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 140468869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 5 (K5*)

Ref Sequence

ENSEMBL: ENSMUSP00000123490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026381] [ENSMUST00000038749] [ENSMUST00000130267]

AlphaFold

Q8K3V4

Predicted Effect

probably benign
Transcript: ENSMUST00000026381

SMART Domains

Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330

Domain	Start	End	E-Value	Type
Pfam:PAD_N	1	111	2.3e-38	PFAM
Pfam:PAD_M	113	273	2.4e-63	PFAM
Pfam:PAD	283	663	2.4e-176	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038749

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935

Domain	Start	End	E-Value	Type
Pfam:PAD_N	1	112	5.6e-38	PFAM
Pfam:PAD_M	114	269	6e-53	PFAM
Pfam:PAD	280	679	4.7e-149	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000130267
AA Change: K5*

SMART Domains

Protein: ENSMUSP00000123490
Gene: ENSMUSG00000040935
AA Change: K5*

Domain	Start	End	E-Value	Type
Pfam:PAD_M	39	191	1.1e-57	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit altered oocyte cytoplasmic structures that lead to a failure of zygotes to progress beyond the 2 cell stage and female infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	T	13: 119,624,721 (GRCm39)	D8E	unknown	Het
Abca5	T	A	11: 110,192,371 (GRCm39)	I714L	probably benign	Het
Abce1	T	A	8: 80,426,043 (GRCm39)	S245C	probably benign	Het
Abcg1	T	A	17: 31,325,105 (GRCm39)	D310E	probably benign	Het
Adhfe1	T	A	1: 9,637,030 (GRCm39)	I394N	probably benign	Het
Apob	A	T	12: 8,059,591 (GRCm39)	D2691V	probably benign	Het
Arhgap18	A	G	10: 26,748,734 (GRCm39)	T340A	possibly damaging	Het
Arsb	A	T	13: 94,077,124 (GRCm39)	Q497L	probably benign	Het
Asic5	T	C	3: 81,919,318 (GRCm39)	I354T	probably benign	Het
Atp6v0a1	T	C	11: 100,924,868 (GRCm39)	C318R	probably damaging	Het
Cftr	T	C	6: 18,226,137 (GRCm39)	Y362H	probably benign	Het
Crip3	T	C	17: 46,741,716 (GRCm39)	Y113H	probably benign	Het
Dcaf4	AT	A	12: 83,584,571 (GRCm39)		probably null	Het
Dock10	T	A	1: 80,481,573 (GRCm39)	I475F		Het
Dqx1	T	A	6: 83,043,436 (GRCm39)	Y674N	probably damaging	Het
Dync2h1	G	T	9: 7,113,214 (GRCm39)	Q2437K	possibly damaging	Het
Ednra	A	T	8: 78,391,734 (GRCm39)	C385*	probably null	Het
Fam216a	G	A	5: 122,507,623 (GRCm39)	T68I	probably benign	Het
Fbxw22	A	G	9: 109,233,291 (GRCm39)	L14P	probably damaging	Het
Fem1al	G	T	11: 29,775,009 (GRCm39)	H149Q	probably damaging	Het
Fkbp10	A	G	11: 100,312,129 (GRCm39)	I230V	possibly damaging	Het
Ggn	C	A	7: 28,872,423 (GRCm39)	A637E	probably damaging	Het
Hcrtr2	T	C	9: 76,137,942 (GRCm39)	D391G	probably benign	Het
Heatr5b	A	T	17: 79,117,992 (GRCm39)	V817D	possibly damaging	Het
Il1f10	G	A	2: 24,183,682 (GRCm39)	W120*	probably null	Het
Irf5	C	A	6: 29,535,876 (GRCm39)	R297S	probably damaging	Het
Jak2	A	G	19: 29,263,798 (GRCm39)	T438A	possibly damaging	Het
Jsrp1	T	C	10: 80,644,410 (GRCm39)	D332G	possibly damaging	Het
Kank4	A	T	4: 98,659,582 (GRCm39)	V832D	probably damaging	Het
Kcnip3	C	T	2: 127,352,856 (GRCm39)	S25N	probably benign	Het
Klk1b16	C	T	7: 43,788,910 (GRCm39)	H48Y	probably benign	Het
Klrh1	C	A	6: 129,743,673 (GRCm39)	A204S	possibly damaging	Het
Krtap5-4	G	A	7: 141,857,609 (GRCm39)	C93Y	unknown	Het
Lacc1	T	A	14: 77,267,096 (GRCm39)	Q389L	probably benign	Het
Lin9	C	A	1: 180,515,661 (GRCm39)	T477K	probably benign	Het
Lpar2	A	T	8: 70,276,256 (GRCm39)	N15I	probably damaging	Het
Ltbp2	C	A	12: 84,915,459 (GRCm39)	C200F	probably damaging	Het
Mall	G	T	2: 127,550,793 (GRCm39)	H122Q	probably benign	Het
Mast3	T	C	8: 71,232,117 (GRCm39)	I1287V	probably benign	Het
Mindy4	T	C	6: 55,255,220 (GRCm39)	I566T	probably benign	Het
Mme	T	C	3: 63,235,638 (GRCm39)	Y195H	probably damaging	Het
Mpzl1	T	C	1: 165,432,267 (GRCm39)	T173A	probably benign	Het
Mri1	G	T	8: 84,977,708 (GRCm39)	T209N		Het
Myo1e	A	G	9: 70,245,083 (GRCm39)	I394V	probably damaging	Het
Nat14	T	C	7: 4,927,329 (GRCm39)	V167A	possibly damaging	Het
Nfasc	A	G	1: 132,498,247 (GRCm39)	Y1212H	unknown	Het
Nsun7	T	A	5: 66,452,764 (GRCm39)	L493Q	probably damaging	Het
Obsl1	A	T	1: 75,464,394 (GRCm39)	S1637R	probably benign	Het
Ocstamp	A	T	2: 165,239,957 (GRCm39)	Y76*	probably null	Het
Or5b95	A	C	19: 12,658,198 (GRCm39)	H242P	probably damaging	Het
Or6c2b	T	A	10: 128,947,416 (GRCm39)	K293*	probably null	Het
Or8b52	G	A	9: 38,576,565 (GRCm39)	R192C	probably benign	Het
Otog	T	A	7: 45,947,990 (GRCm39)	C145*	probably null	Het
Pcdha5	T	A	18: 37,094,615 (GRCm39)	S375T	probably benign	Het
Pde10a	C	T	17: 9,159,994 (GRCm39)	P140S	probably benign	Het
Pgbd1	C	G	13: 21,607,300 (GRCm39)	C298S	possibly damaging	Het
Plch2	C	T	4: 155,071,448 (GRCm39)	G977D	probably benign	Het
Pou2f3	T	C	9: 43,040,188 (GRCm39)	T367A	probably damaging	Het
Ppm1j	T	A	3: 104,692,276 (GRCm39)	Y352N	probably damaging	Het
Prkag2	T	C	5: 25,226,967 (GRCm39)	T97A	probably benign	Het
Rpl36a-ps1	T	A	14: 99,231,660 (GRCm39)	Y26F	probably benign	Het
Sctr	A	T	1: 119,991,001 (GRCm39)	N445Y	possibly damaging	Het
Serping1	C	T	2: 84,603,835 (GRCm39)	V69I	probably benign	Het
Slc8a2	T	A	7: 15,878,963 (GRCm39)	L483Q	probably benign	Het
Spag17	T	C	3: 99,846,586 (GRCm39)	F37L	probably benign	Het
Srrm2	T	A	17: 24,039,290 (GRCm39)	M1978K	probably damaging	Het
Tcp11	T	C	17: 28,285,995 (GRCm39)	Q540R	probably benign	Het
Thnsl1	G	T	2: 21,217,141 (GRCm39)	R298S	possibly damaging	Het
Tigd5	T	A	15: 75,782,230 (GRCm39)	Y197*	probably null	Het
Tmprss11g	A	T	5: 86,640,059 (GRCm39)	L203Q	probably damaging	Het
Trim35	T	A	14: 66,546,271 (GRCm39)	V346E	probably damaging	Het
Ttn	T	C	2: 76,598,708 (GRCm39)	I19402V	possibly damaging	Het
Ttn	C	T	2: 76,749,689 (GRCm39)	E3787K	probably benign	Het
Tut1	G	A	19: 8,942,778 (GRCm39)	V622I	probably benign	Het
Vmn1r2	A	G	4: 3,172,134 (GRCm39)	I18V	probably benign	Het
Zbbx	T	C	3: 75,046,853 (GRCm39)	N22S	possibly damaging	Het
Zfp169	A	C	13: 48,652,339 (GRCm39)	M26R	probably benign	Het
Zfp180	T	A	7: 23,804,686 (GRCm39)	H368Q	probably damaging	Het
Zfp638	T	A	6: 83,930,108 (GRCm39)	S770T	possibly damaging	Het
Znrf1	T	C	8: 112,263,774 (GRCm39)	M1T	probably null	Het

Other mutations in Padi6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Padi6	APN	4	140,454,934 (GRCm39)	missense	possibly damaging	0.56
IGL01013:Padi6	APN	4	140,456,314 (GRCm39)	missense	probably damaging	0.98
IGL01068:Padi6	APN	4	140,458,264 (GRCm39)	missense	possibly damaging	0.70
IGL01945:Padi6	APN	4	140,469,235 (GRCm39)	missense	probably benign	0.24
streetwise	UTSW	4	140,468,869 (GRCm39)	nonsense	probably null
R0097:Padi6	UTSW	4	140,458,268 (GRCm39)	missense	probably benign	0.09
R0097:Padi6	UTSW	4	140,458,268 (GRCm39)	missense	probably benign	0.09
R0135:Padi6	UTSW	4	140,464,663 (GRCm39)	missense	probably benign	0.04
R0437:Padi6	UTSW	4	140,456,240 (GRCm39)	missense	probably benign	0.01
R1581:Padi6	UTSW	4	140,463,147 (GRCm39)	missense	probably damaging	1.00
R2024:Padi6	UTSW	4	140,456,279 (GRCm39)	missense	possibly damaging	0.78
R3150:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R3176:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R3177:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R3276:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R3277:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R4168:Padi6	UTSW	4	140,469,245 (GRCm39)	missense	probably damaging	0.99
R4727:Padi6	UTSW	4	140,458,506 (GRCm39)	missense	probably damaging	1.00
R5063:Padi6	UTSW	4	140,469,191 (GRCm39)	missense	probably benign	0.01
R5382:Padi6	UTSW	4	140,458,521 (GRCm39)	missense	probably damaging	1.00
R5408:Padi6	UTSW	4	140,454,996 (GRCm39)	missense	probably damaging	1.00
R5604:Padi6	UTSW	4	140,458,473 (GRCm39)	missense	probably damaging	0.96
R5790:Padi6	UTSW	4	140,459,569 (GRCm39)	missense	probably damaging	1.00
R7533:Padi6	UTSW	4	140,458,506 (GRCm39)	missense	probably damaging	1.00
R7581:Padi6	UTSW	4	140,456,240 (GRCm39)	missense	probably benign	0.01
R7662:Padi6	UTSW	4	140,456,306 (GRCm39)	missense	probably benign	0.00
R7766:Padi6	UTSW	4	140,458,286 (GRCm39)	missense	probably benign	0.02
R7872:Padi6	UTSW	4	140,455,073 (GRCm39)	missense	probably damaging	1.00
R8333:Padi6	UTSW	4	140,464,687 (GRCm39)	missense	probably damaging	1.00
R8347:Padi6	UTSW	4	140,462,719 (GRCm39)	missense	probably benign	0.00
R8550:Padi6	UTSW	4	140,460,014 (GRCm39)	missense	probably benign	0.15
R8979:Padi6	UTSW	4	140,466,474 (GRCm39)	missense	probably benign	0.03
R9628:Padi6	UTSW	4	140,464,626 (GRCm39)	missense	probably damaging	1.00
RF007:Padi6	UTSW	4	140,457,054 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAAAGTCGTTTGCCCTGGC -3'
(R):5'- CCCACTGTGGATGAAGACAAGG -3'

Sequencing Primer
(F):5'- TTGCCCTGGCTTGGAGC -3'
(R):5'- CTGTGGATGAAGACAAGGTGAGC -3'

Posted On

2019-05-15