Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00778:Padi6'

12897

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 #

IGL00778

Quality Score

Status

Chromosome

Chromosomal Location

140727355-140742643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140727623 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 668 (I668L)

Ref Sequence

ENSEMBL: ENSMUSP00000044044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038749] [ENSMUST00000038893] [ENSMUST00000071169]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038749
AA Change: I668L

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: I668L

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 benign
Transcript: ENSMUST00000038893

SMART Domains

Protein: ENSMUSP00000038144
Gene: ENSMUSG00000040945

Domain	Start	End	E-Value	Type
low complexity region	19	39	N/A	INTRINSIC
low complexity region	41	50	N/A	INTRINSIC
low complexity region	65	87	N/A	INTRINSIC
Pfam:RCC1_2	148	179	6.5e-8	PFAM
Pfam:RCC1	166	215	2.7e-18	PFAM
Pfam:RCC1_2	202	231	5.4e-10	PFAM
Pfam:RCC1	218	267	8.5e-14	PFAM
Pfam:RCC1	270	343	2.9e-13	PFAM
Pfam:RCC1_2	330	359	6.2e-9	PFAM
Pfam:RCC1	347	397	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071169

SMART Domains

Protein: ENSMUSP00000071163
Gene: ENSMUSG00000040945

Domain	Start	End	E-Value	Type
low complexity region	19	39	N/A	INTRINSIC
low complexity region	41	50	N/A	INTRINSIC
low complexity region	65	87	N/A	INTRINSIC
Pfam:RCC1_2	148	179	6.1e-8	PFAM
Pfam:RCC1	166	215	4.1e-19	PFAM
Pfam:RCC1_2	202	231	5.1e-10	PFAM
Pfam:RCC1	218	267	1.6e-12	PFAM
Pfam:RCC1	270	343	7.5e-13	PFAM
Pfam:RCC1_2	330	359	1.3e-8	PFAM
Pfam:RCC1	347	397	2.7e-12	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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	G	A	14: 44,163,934	H152Y	probably benign	Het
Abca1	T	C	4: 53,086,132	D457G	probably benign	Het
Atp8a1	T	G	5: 67,659,903	K913N	possibly damaging	Het
Cd180	G	A	13: 102,705,409	S321N	probably benign	Het
Cdc14b	T	C	13: 64,215,656	N264D	probably damaging	Het
Cenpf	A	T	1: 189,654,912	C1724S	probably benign	Het
Chil4	A	G	3: 106,201,797	S397P	probably benign	Het
Clpb	C	T	7: 101,778,608	R387*	probably null	Het
Csgalnact2	A	T	6: 118,126,272	M1K	probably null	Het
Enpp3	C	A	10: 24,798,262	C380F	probably damaging	Het
Gtf3c1	G	A	7: 125,667,374	R967W	probably damaging	Het
Hnrnpr	T	A	4: 136,339,545	D472E	unknown	Het
Klhl28	A	T	12: 64,950,066	D500E	probably damaging	Het
Lmo7	C	T	14: 101,910,885		probably benign	Het
Mphosph8	A	G	14: 56,674,443	I308V	probably benign	Het
Myo6	T	A	9: 80,283,586		probably null	Het
Nsmaf	C	T	4: 6,435,056		probably null	Het
Pigw	A	G	11: 84,877,324	I393T	possibly damaging	Het
Prg3	G	A	2: 84,993,732	C212Y	probably damaging	Het
Pwp1	T	C	10: 85,879,888	V267A	probably benign	Het
Raver2	C	A	4: 101,096,271	Q79K	probably benign	Het
Sdr9c7	T	C	10: 127,909,828	S270P	probably damaging	Het
Sfmbt2	A	G	2: 10,402,007	E39G	probably damaging	Het
Strada	A	G	11: 106,171,150		probably benign	Het
Xrn1	T	C	9: 95,973,447		probably benign	Het
Zic3	A	G	X: 58,034,419	Y424C	probably damaging	Het

Other mutations in Padi6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7084:Padi6	UTSW	4	140741558	nonsense	probably null
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
RF007:Padi6	UTSW	4	140729743	missense	probably damaging	1.00

Posted On

2012-12-06