Mutagenetix > Incidental Mutations

Incidental Mutation 'R5408:Padi6'

426375

Institutional Source

Beutler Lab

Gene Symbol

Padi6

Ensembl Gene

ENSMUSG00000040935

Gene Name

peptidyl arginine deiminase, type VI

Synonyms

Padi5, Pad6, ePAD

MMRRC Submission

042977-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5408 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140727355-140742643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140727685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 647 (T647I)

Ref Sequence

ENSEMBL: ENSMUSP00000044044 (fasta)

Gene Model

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

AlphaFold

Q8K3V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000038749
AA Change: T647I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: T647I

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

Meta Mutation Damage Score

0.1265

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	T	C	9: 50,764,757	N87S	probably damaging	Het
A430110L20Rik	A	G	1: 181,227,414		noncoding transcript	Het
Actn2	T	C	13: 12,270,795	I837V	probably benign	Het
Adora1	T	A	1: 134,203,163	T257S	probably benign	Het
Akap9	T	A	5: 4,058,458	M2954K	possibly damaging	Het
Akr1c13	G	T	13: 4,194,716	A98S	probably benign	Het
Aldh2	C	T	5: 121,570,557		probably benign	Het
Ank1	A	G	8: 23,082,193	N48D	probably damaging	Het
Ash1l	A	G	3: 88,982,394	T527A	probably damaging	Het
Atp13a1	T	C	8: 69,796,840	V251A	probably benign	Het
Baz1a	A	T	12: 54,923,050	D608E	probably damaging	Het
Bend5	A	T	4: 111,454,083		probably null	Het
Blm	T	G	7: 80,502,622	T526P	probably benign	Het
Cacna1a	T	C	8: 84,549,707	V559A	probably damaging	Het
Cacna2d4	A	G	6: 119,348,791	D1042G	probably damaging	Het
Cadps	T	C	14: 12,705,759	H212R	possibly damaging	Het
Cdh3	T	C	8: 106,536,637	I106T	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Col16a1	A	T	4: 130,093,105		probably benign	Het
Dctn6	C	T	8: 34,094,902	V89I	possibly damaging	Het
Dgkz	C	A	2: 91,935,823	G798W	possibly damaging	Het
Epb41l2	A	T	10: 25,468,094		probably null	Het
Fam171a2	T	C	11: 102,437,518	K805R	possibly damaging	Het
Fam89b	G	T	19: 5,729,393	Y45*	probably null	Het
Fchsd2	A	G	7: 101,271,574	N462S	possibly damaging	Het
Fyco1	T	G	9: 123,829,503	H536P	probably damaging	Het
Galnt12	A	T	4: 47,104,169	E142D	probably damaging	Het
Gspt1	C	T	16: 11,253,855	G48D	probably benign	Het
H6pd	A	G	4: 149,982,865	S355P	probably damaging	Het
Hectd2	T	C	19: 36,554,896	V38A	possibly damaging	Het
Jup	C	T	11: 100,376,781	R572Q	probably damaging	Het
Kcng3	T	C	17: 83,631,005	D205G	probably benign	Het
Kif13b	A	T	14: 64,779,689		probably null	Het
Mapk3	A	G	7: 126,763,835	D253G	probably damaging	Het
Methig1	A	T	15: 100,383,754	Y253F	possibly damaging	Het
Mmp3	T	C	9: 7,449,904	S263P	probably damaging	Het
Mpo	T	A	11: 87,801,025		probably null	Het
Nbeal2	C	A	9: 110,637,520	G772W	possibly damaging	Het
Nr1d1	T	A	11: 98,770,261	H393L	probably benign	Het
Obscn	A	G	11: 59,051,611	V4915A	probably damaging	Het
Olfml2b	T	A	1: 170,644,976	W19R	probably damaging	Het
Olfr1342	T	C	4: 118,690,444	T3A	probably benign	Het
Olfr504	C	T	7: 108,565,169	A209T	probably damaging	Het
Pcyox1	A	G	6: 86,392,298	L113S	probably damaging	Het
Pde4dip	T	A	3: 97,796,736	T192S	probably benign	Het
Pip4k2a	T	C	2: 18,906,308	H87R	probably benign	Het
Pkd1l3	C	A	8: 109,667,052	T2004N	probably damaging	Het
Prex1	CGTTGTTGTTGT	CGTTGTTGTTGTTGT	2: 166,575,653		probably benign	Het
Ptprz1	C	T	6: 23,002,600	T1563I	probably damaging	Het
Reg3b	T	C	6: 78,373,232	V165A	probably benign	Het
Rreb1	A	G	13: 37,931,344	D893G	probably benign	Het
Sap18	A	T	14: 57,801,974	M78L	probably benign	Het
Scaper	A	T	9: 55,586,224	F1226I	probably damaging	Het
Scyl3	A	T	1: 163,954,676		probably null	Het
Shoc2	A	G	19: 53,988,125	M149V	probably benign	Het
Slc7a2	G	A	8: 40,915,005	R602K	probably damaging	Het
Sox30	A	G	11: 45,991,867	I575V	possibly damaging	Het
Trim14	A	T	4: 46,507,134	C361S	possibly damaging	Het
Ttn	T	C	2: 76,900,928		probably benign	Het
Uncx	A	T	5: 139,544,490	K108*	probably null	Het
Usp54	A	T	14: 20,550,433	L1412Q	probably damaging	Het
Uty	A	G	Y: 1,245,614	V6A	possibly damaging	Het
Vmn1r30	C	T	6: 58,435,044	V268I	probably benign	Het
Wdsub1	T	C	2: 59,861,543		probably benign	Het
Wipf3	A	G	6: 54,481,911	I84V	probably benign	Het
Xcr1	T	A	9: 123,856,566	I44F	probably benign	Het
Zfp687	T	C	3: 95,009,275		probably benign	Het
Zfp729b	A	T	13: 67,591,444	S901T	probably benign	Het
Zhx1	A	T	15: 58,052,423	M809K	probably damaging	Het
Zswim9	T	C	7: 13,260,826	K468E	possibly 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
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
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
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'- TGTGAGAGACCCTAACTCCC -3'
(R):5'- AGCTTTTCAGGGCTGATCC -3'

Sequencing Primer
(F):5'- GCTCGCACCCACTACTATCTATGG -3'
(R):5'- GGCTGATCCCTGTTTGATCTTAAC -3'

Posted On

2016-09-01