Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01013:Padi6'

53522

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Padi6

Ensembl Gene

ENSMUSG00000040935

Gene Name

peptidyl arginine deiminase, type VI

Synonyms

Padi5, Pad6, ePAD

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01013

Quality Score

Status

Chromosome

Chromosomal Location

140727355-140742643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140729003 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 560 (L560P)

Ref Sequence

ENSEMBL: ENSMUSP00000044044 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038749
AA Change: L560P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: L560P

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

noncoding transcript
Transcript: ENSMUST00000125046

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 76,886,206	E499D	possibly damaging	Het
Abca1	A	T	4: 53,038,185	L2059*	probably null	Het
Ankar	T	A	1: 72,650,989	I1228F	possibly damaging	Het
Appl1	A	T	14: 26,949,476	Y340N	possibly damaging	Het
Atp8b4	C	A	2: 126,323,087	R1103L	probably benign	Het
B4galt6	A	G	18: 20,689,013	V308A	probably damaging	Het
Ccdc162	G	A	10: 41,581,339	P1534L	probably benign	Het
Ccdc78	A	G	17: 25,789,054	E313G	possibly damaging	Het
Cep57l1	G	A	10: 41,740,869	R141*	probably null	Het
Cpsf1	G	A	15: 76,599,297	Q883*	probably null	Het
Crot	A	G	5: 8,993,575	Y16H	probably benign	Het
Cyld	T	G	8: 88,742,362	L587R	probably damaging	Het
Fam114a1	G	A	5: 65,031,395		probably null	Het
Fam89b	G	T	19: 5,729,369	D53E	probably benign	Het
Fig4	T	C	10: 41,267,786	M226V	probably benign	Het
Gm10722	A	T	9: 3,002,230	Y184F	probably damaging	Het
Hp	C	A	8: 109,579,021		probably benign	Het
Igsf9b	G	T	9: 27,334,304	R1189L	probably damaging	Het
Ilf3	A	G	9: 21,399,691	N620D	possibly damaging	Het
Jakmip3	A	C	7: 139,017,573	E228A	possibly damaging	Het
Kpna3	A	T	14: 61,370,517	I413K	probably damaging	Het
Letm1	A	T	5: 33,762,590	C202S	possibly damaging	Het
Lmod2	C	A	6: 24,604,135	Q370K	probably damaging	Het
Map4k5	T	C	12: 69,827,526		probably benign	Het
Mcidas	T	A	13: 112,997,585		probably benign	Het
Mme	A	G	3: 63,327,860		probably null	Het
Mrc1	T	C	2: 14,328,425	W1306R	probably damaging	Het
Mthfd1l	C	A	10: 4,030,716	Q473K	probably damaging	Het
Muc6	A	T	7: 141,648,066	C719*	probably null	Het
Nsun7	T	C	5: 66,283,601	I355T	possibly damaging	Het
Parl	C	A	16: 20,282,790	A285S	possibly damaging	Het
Pclo	A	T	5: 14,793,834	M4795L	unknown	Het
Polr2f	A	G	15: 79,146,129	Y56C	probably damaging	Het
Rasgrp2	A	T	19: 6,404,383	H152L	probably damaging	Het
Rpl10l	T	C	12: 66,284,227	D44G	probably benign	Het
Slc25a16	A	G	10: 62,944,433		probably null	Het
Snrnp200	G	A	2: 127,232,472	E1411K	probably damaging	Het
Tanc2	G	A	11: 105,625,065	R3Q	probably damaging	Het
Tbc1d32	G	T	10: 56,201,959		probably null	Het
Tcf7l2	T	C	19: 55,919,627		probably benign	Het
Tnrc6c	G	T	11: 117,722,029	V498L	probably benign	Het
Tymp	G	A	15: 89,376,310	H102Y	probably damaging	Het
Wdr76	T	C	2: 121,535,497	S492P	probably benign	Het
Zc3h12d	T	C	10: 7,839,956	I41T	probably damaging	Het

Other mutations in Padi6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Padi6	APN	4	140727623	missense	possibly damaging	0.56
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
R7084:Padi6	UTSW	4	140741558	nonsense	probably null
R7533:Padi6	UTSW	4	140731195	missense	probably damaging	1.00

Posted On

2013-06-28