Mutagenetix > Incidental Mutations

Incidental Mutation 'R7084:Padi6'

549737

Institutional Source

Beutler Lab

Gene Symbol

Padi6

Ensembl Gene

ENSMUSG00000040935

Gene Name

peptidyl arginine deiminase, type VI

Synonyms

Padi5, Pad6, ePAD

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140727355-140742643 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 140741558 bp (GRCm38)

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: 119,488,185	D8E	unknown	Het
4931440F15Rik	G	T	11: 29,825,009	H149Q	probably damaging	Het
Abca5	T	A	11: 110,301,545	I714L	probably benign	Het
Abce1	T	A	8: 79,699,414	S245C	probably benign	Het
Abcg1	T	A	17: 31,106,131	D310E	probably benign	Het
Adhfe1	T	A	1: 9,566,805	I394N	probably benign	Het
Apob	A	T	12: 8,009,591	D2691V	probably benign	Het
Arhgap18	A	G	10: 26,872,738	T340A	possibly damaging	Het
Arsb	A	T	13: 93,940,616	Q497L	probably benign	Het
Asic5	T	C	3: 82,012,011	I354T	probably benign	Het
Atp6v0a1	T	C	11: 101,034,042	C318R	probably damaging	Het
Cftr	T	C	6: 18,226,138	Y362H	probably benign	Het
Crip3	T	C	17: 46,430,790	Y113H	probably benign	Het
Dcaf4	AT	A	12: 83,537,797		probably null	Het
Dock10	T	A	1: 80,503,856	I475F		Het
Dqx1	T	A	6: 83,066,455	Y674N	probably damaging	Het
Dync2h1	G	T	9: 7,113,214	Q2437K	possibly damaging	Het
Ednra	A	T	8: 77,665,105	C385*	probably null	Het
Fam216a	G	A	5: 122,369,560	T68I	probably benign	Het
Fbxw22	A	G	9: 109,404,223	L14P	probably damaging	Het
Fkbp10	A	G	11: 100,421,303	I230V	possibly damaging	Het
Ggn	C	A	7: 29,172,998	A637E	probably damaging	Het
Gm156	C	A	6: 129,766,710	A204S	possibly damaging	Het
Hcrtr2	T	C	9: 76,230,660	D391G	probably benign	Het
Heatr5b	A	T	17: 78,810,563	V817D	possibly damaging	Het
Il1f10	G	A	2: 24,293,670	W120*	probably null	Het
Irf5	C	A	6: 29,535,877	R297S	probably damaging	Het
Jak2	A	G	19: 29,286,398	T438A	possibly damaging	Het
Jsrp1	T	C	10: 80,808,576	D332G	possibly damaging	Het
Kank4	A	T	4: 98,771,345	V832D	probably damaging	Het
Kcnip3	C	T	2: 127,510,936	S25N	probably benign	Het
Klk1b16	C	T	7: 44,139,486	H48Y	probably benign	Het
Krtap5-4	G	A	7: 142,303,872	C93Y	unknown	Het
Lacc1	T	A	14: 77,029,656	Q389L	probably benign	Het
Lin9	C	A	1: 180,688,096	T477K	probably benign	Het
Lpar2	A	T	8: 69,823,606	N15I	probably damaging	Het
Ltbp2	C	A	12: 84,868,685	C200F	probably damaging	Het
Mall	G	T	2: 127,708,873	H122Q	probably benign	Het
Mast3	T	C	8: 70,779,473	I1287V	probably benign	Het
Mindy4	T	C	6: 55,278,235	I566T	probably benign	Het
Mme	T	C	3: 63,328,217	Y195H	probably damaging	Het
Mpzl1	T	C	1: 165,604,698	T173A	probably benign	Het
Mri1	G	T	8: 84,251,079	T209N		Het
Myo1e	A	G	9: 70,337,801	I394V	probably damaging	Het
Nat14	T	C	7: 4,924,330	V167A	possibly damaging	Het
Nfasc	A	G	1: 132,570,509	Y1212H	unknown	Het
Nsun7	T	A	5: 66,295,421	L493Q	probably damaging	Het
Obsl1	A	T	1: 75,487,750	S1637R	probably benign	Het
Ocstamp	A	T	2: 165,398,037	Y76*	probably null	Het
Olfr1443	A	C	19: 12,680,834	H242P	probably damaging	Het
Olfr769	T	A	10: 129,111,547	K293*	probably null	Het
Olfr917	G	A	9: 38,665,269	R192C	probably benign	Het
Otog	T	A	7: 46,298,566	C145*	probably null	Het
Pcdha5	T	A	18: 36,961,562	S375T	probably benign	Het
Pde10a	C	T	17: 8,941,162	P140S	probably benign	Het
Pgbd1	C	G	13: 21,423,130	C298S	possibly damaging	Het
Plch2	C	T	4: 154,986,991	G977D	probably benign	Het
Pou2f3	T	C	9: 43,128,893	T367A	probably damaging	Het
Ppm1j	T	A	3: 104,784,960	Y352N	probably damaging	Het
Prkag2	T	C	5: 25,021,969	T97A	probably benign	Het
Rpl36a-ps1	T	A	14: 98,994,224	Y26F	probably benign	Het
Sctr	A	T	1: 120,063,271	N445Y	possibly damaging	Het
Serping1	C	T	2: 84,773,491	V69I	probably benign	Het
Slc8a2	T	A	7: 16,145,038	L483Q	probably benign	Het
Spag17	T	C	3: 99,939,270	F37L	probably benign	Het
Srrm2	T	A	17: 23,820,316	M1978K	probably damaging	Het
Tcp11	T	C	17: 28,067,021	Q540R	probably benign	Het
Thnsl1	G	T	2: 21,212,330	R298S	possibly damaging	Het
Tigd5	T	A	15: 75,910,381	Y197*	probably null	Het
Tmprss11g	A	T	5: 86,492,200	L203Q	probably damaging	Het
Trim35	T	A	14: 66,308,822	V346E	probably damaging	Het
Ttn	T	C	2: 76,768,364	I19402V	possibly damaging	Het
Ttn	C	T	2: 76,919,345	E3787K	probably benign	Het
Tut1	G	A	19: 8,965,414	V622I	probably benign	Het
Vmn1r2	A	G	4: 3,172,134	I18V	probably benign	Het
Zbbx	T	C	3: 75,139,546	N22S	possibly damaging	Het
Zfp169	A	C	13: 48,498,863	M26R	probably benign	Het
Zfp180	T	A	7: 24,105,261	H368Q	probably damaging	Het
Zfp638	T	A	6: 83,953,126	S770T	possibly damaging	Het
Znrf1	T	C	8: 111,537,142	M1T	probably null	Het

Other mutations in Padi6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Padi6	APN	4	140727623	missense	possibly damaging	0.56
IGL01013:Padi6	APN	4	140729003	missense	probably damaging	0.98
IGL01068:Padi6	APN	4	140730953	missense	possibly damaging	0.70
IGL01945:Padi6	APN	4	140741924	missense	probably benign	0.24
streetwise	UTSW	4	140741558	nonsense	probably null
R0097:Padi6	UTSW	4	140730957	missense	probably benign	0.09
R0097:Padi6	UTSW	4	140730957	missense	probably benign	0.09
R0135:Padi6	UTSW	4	140737352	missense	probably benign	0.04
R0437:Padi6	UTSW	4	140728929	missense	probably benign	0.01
R1581:Padi6	UTSW	4	140735836	missense	probably damaging	1.00
R2024:Padi6	UTSW	4	140728968	missense	possibly damaging	0.78
R3150:Padi6	UTSW	4	140735389	missense	probably damaging	1.00
R3176:Padi6	UTSW	4	140735389	missense	probably damaging	1.00
R3177:Padi6	UTSW	4	140735389	missense	probably damaging	1.00
R3276:Padi6	UTSW	4	140735389	missense	probably damaging	1.00
R3277:Padi6	UTSW	4	140735389	missense	probably damaging	1.00
R4168:Padi6	UTSW	4	140741934	missense	probably damaging	0.99
R4727:Padi6	UTSW	4	140731195	missense	probably damaging	1.00
R5063:Padi6	UTSW	4	140741880	missense	probably benign	0.01
R5382:Padi6	UTSW	4	140731210	missense	probably damaging	1.00
R5408:Padi6	UTSW	4	140727685	missense	probably damaging	1.00
R5604:Padi6	UTSW	4	140731162	missense	probably damaging	0.96
R5790:Padi6	UTSW	4	140732258	missense	probably damaging	1.00
R7533:Padi6	UTSW	4	140731195	missense	probably damaging	1.00
R7581:Padi6	UTSW	4	140728929	missense	probably benign	0.01
R7662:Padi6	UTSW	4	140728995	missense	probably benign	0.00
R7766:Padi6	UTSW	4	140730975	missense	probably benign	0.02
R7872:Padi6	UTSW	4	140727762	missense	probably damaging	1.00
R8333:Padi6	UTSW	4	140737376	missense	probably damaging	1.00
R8347:Padi6	UTSW	4	140735408	missense	probably benign	0.00
R8550:Padi6	UTSW	4	140732703	missense	probably benign	0.15
R8979:Padi6	UTSW	4	140739163	missense	probably benign	0.03
RF007:Padi6	UTSW	4	140729743	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