Mutagenetix > Incidental Mutation

Incidental Mutation 'R1164:Padi1'

100801

Institutional Source

Beutler Lab

Gene Symbol

Padi1

Ensembl Gene

ENSMUSG00000025329

Gene Name

peptidyl arginine deiminase, type I

Synonyms

Pad type 1, Pdi1

MMRRC Submission

039237-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R1164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140540294-140573089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140559640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 79 (V79E)

Ref Sequence

ENSEMBL: ENSMUSP00000026378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026378]

AlphaFold

Q9Z185

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026378
AA Change: V79E

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329
AA Change: V79E

Domain	Start	End	E-Value	Type
Pfam:PAD_N	1	113	5.4e-39	PFAM
Pfam:PAD_M	115	272	1.3e-63	PFAM
Pfam:PAD	280	659	9.4e-170	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.8%

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. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,621,305 (GRCm39)	M1055K	probably damaging	Het
Adprh	A	T	16: 38,270,702 (GRCm39)	D34E	probably benign	Het
Aldh1a1	A	T	19: 20,595,310 (GRCm39)	M80L	probably benign	Het
Arap2	T	A	5: 62,840,820 (GRCm39)	D682V	probably damaging	Het
Atp4a	T	A	7: 30,417,117 (GRCm39)	L500Q	probably benign	Het
Atp6v1c2	T	C	12: 17,358,317 (GRCm39)	E10G	probably damaging	Het
B4galt2	G	A	4: 117,734,141 (GRCm39)	R299W	possibly damaging	Het
Bltp3a	T	C	17: 28,114,354 (GRCm39)		probably null	Het
Brinp1	A	C	4: 68,716,928 (GRCm39)	S307A	probably benign	Het
Cacna2d1	G	A	5: 16,566,874 (GRCm39)		probably null	Het
Ccdc3	T	C	2: 5,146,077 (GRCm39)	V137A	possibly damaging	Het
Ccnb1ip1	T	C	14: 51,029,594 (GRCm39)	K156R	possibly damaging	Het
Cfap77	A	T	2: 28,852,700 (GRCm39)	W191R	probably damaging	Het
Chga	A	G	12: 102,529,304 (GRCm39)	E427G	probably damaging	Het
Chrnd	A	T	1: 87,120,267 (GRCm39)	Y32F	probably benign	Het
Cks1b	C	A	3: 89,323,249 (GRCm39)		probably benign	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dip2a	C	A	10: 76,112,231 (GRCm39)	R1098L	possibly damaging	Het
Dmbx1	T	A	4: 115,775,455 (GRCm39)	H275L	probably damaging	Het
Dmrt2	A	G	19: 25,655,357 (GRCm39)	M319V	possibly damaging	Het
Dock8	A	G	19: 25,067,391 (GRCm39)	Y345C	probably benign	Het
Dpp6	A	G	5: 27,926,103 (GRCm39)	T668A	probably benign	Het
Eef1d	A	G	15: 75,774,526 (GRCm39)		probably null	Het
Epb41l3	A	G	17: 69,581,762 (GRCm39)	T568A	possibly damaging	Het
Erc2	A	G	14: 28,024,929 (GRCm39)	R603G	probably damaging	Het
Fam83d	T	C	2: 158,625,170 (GRCm39)	S254P	probably damaging	Het
Fcgr4	A	T	1: 170,856,739 (GRCm39)	H202L	possibly damaging	Het
Gm4922	C	T	10: 18,659,469 (GRCm39)	A418T	possibly damaging	Het
Kmo	A	G	1: 175,486,125 (GRCm39)	H416R	probably benign	Het
Lao1	A	G	4: 118,822,602 (GRCm39)	N174S	probably benign	Het
Lrwd1	A	T	5: 136,159,844 (GRCm39)	H406Q	probably benign	Het
Magoh	A	G	4: 107,744,459 (GRCm39)	I143V	probably benign	Het
Mpz	A	G	1: 170,986,008 (GRCm39)	H49R	possibly damaging	Het
Nav1	T	C	1: 135,400,148 (GRCm39)	N474S	probably benign	Het
Ndufb10	T	G	17: 24,941,757 (GRCm39)	E68D	probably benign	Het
Obscn	T	C	11: 58,926,913 (GRCm39)	D5534G	possibly damaging	Het
Or13c7d	T	C	4: 43,770,991 (GRCm39)	T7A	probably benign	Het
Or14j5	T	A	17: 38,161,575 (GRCm39)	F31I	probably damaging	Het
Or1j16	A	T	2: 36,530,132 (GRCm39)	Y27F	probably benign	Het
Or4d10	A	T	19: 12,051,605 (GRCm39)	Y130*	probably null	Het
Or52l1	A	T	7: 104,830,040 (GRCm39)	F160Y	probably benign	Het
Or8k30	C	A	2: 86,339,028 (GRCm39)	T75K	probably damaging	Het
Pdha2	A	G	3: 140,917,260 (GRCm39)	Y83H	probably damaging	Het
Phpt1	A	G	2: 25,464,727 (GRCm39)	I42T	probably damaging	Het
Pot1b	A	C	17: 55,981,085 (GRCm39)	S310A	probably benign	Het
Ptpn13	G	A	5: 103,637,639 (GRCm39)	V176I	probably damaging	Het
Ptprf	A	G	4: 118,114,689 (GRCm39)	S189P	probably damaging	Het
Rere	A	T	4: 150,619,341 (GRCm39)	Q381L	unknown	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Scn8a	G	A	15: 100,938,043 (GRCm39)	C1804Y	probably benign	Het
Sema3c	G	A	5: 17,883,312 (GRCm39)	D307N	probably benign	Het
Siah2	T	C	3: 58,583,737 (GRCm39)	E183G	probably benign	Het
Smarca5	G	A	8: 81,437,260 (GRCm39)	L699F	probably damaging	Het
Smo	T	A	6: 29,754,718 (GRCm39)	S263T	probably benign	Het
Sox2	A	G	3: 34,704,848 (GRCm39)	E95G	probably damaging	Het
T	T	C	17: 8,658,771 (GRCm39)	S171P	probably benign	Het
Tmc7	G	T	7: 118,141,247 (GRCm39)	A628D	probably benign	Het
Tmem45a2	A	G	16: 56,869,789 (GRCm39)	S52P	probably damaging	Het
Tubb3	C	T	8: 124,148,186 (GRCm39)	A373V	probably damaging	Het
Upp2	A	G	2: 58,653,716 (GRCm39)	Y69C	probably damaging	Het
Utp4	A	G	8: 107,627,476 (GRCm39)		probably null	Het
Vmn1r59	T	A	7: 5,457,410 (GRCm39)	M117L	probably benign	Het
Xkr8	T	C	4: 132,459,722 (GRCm39)	S19G	probably benign	Het
Zbed6	G	A	1: 133,586,941 (GRCm39)	T132I	probably damaging	Het
Zbtb24	T	C	10: 41,340,523 (GRCm39)	Y518H	probably damaging	Het
Zfp324	T	C	7: 12,705,551 (GRCm39)	I580T	probably benign	Het
Zfp995	G	A	17: 22,098,960 (GRCm39)	H425Y	probably damaging	Het

Other mutations in Padi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01844:Padi1	APN	4	140,556,746 (GRCm39)	missense	probably damaging	1.00
IGL01972:Padi1	APN	4	140,546,170 (GRCm39)	splice site	probably benign
IGL03260:Padi1	APN	4	140,555,505 (GRCm39)	missense	probably benign	0.11
R0598:Padi1	UTSW	4	140,542,098 (GRCm39)	missense	possibly damaging	0.84
R1793:Padi1	UTSW	4	140,541,967 (GRCm39)	missense	probably damaging	1.00
R4208:Padi1	UTSW	4	140,544,538 (GRCm39)	missense	possibly damaging	0.80
R4256:Padi1	UTSW	4	140,542,089 (GRCm39)	missense	probably damaging	1.00
R4484:Padi1	UTSW	4	140,544,581 (GRCm39)	intron	probably benign
R4926:Padi1	UTSW	4	140,552,158 (GRCm39)	missense	probably damaging	0.99
R4967:Padi1	UTSW	4	140,572,901 (GRCm39)	missense	probably benign	0.00
R5066:Padi1	UTSW	4	140,556,748 (GRCm39)	missense	probably damaging	1.00
R5523:Padi1	UTSW	4	140,542,164 (GRCm39)	missense	probably damaging	1.00
R5622:Padi1	UTSW	4	140,552,266 (GRCm39)	missense	probably damaging	1.00
R5850:Padi1	UTSW	4	140,542,141 (GRCm39)	missense	probably benign	0.03
R5870:Padi1	UTSW	4	140,553,892 (GRCm39)	missense	probably benign	0.39
R5951:Padi1	UTSW	4	140,542,140 (GRCm39)	missense	probably damaging	1.00
R6187:Padi1	UTSW	4	140,554,276 (GRCm39)	missense	probably damaging	1.00
R7257:Padi1	UTSW	4	140,556,782 (GRCm39)	missense	probably damaging	1.00
R7326:Padi1	UTSW	4	140,559,715 (GRCm39)	missense	probably benign	0.15
R7339:Padi1	UTSW	4	140,556,545 (GRCm39)	missense	probably null	0.98
R8282:Padi1	UTSW	4	140,542,014 (GRCm39)	missense	probably damaging	1.00
R9083:Padi1	UTSW	4	140,559,602 (GRCm39)	critical splice donor site	probably null
R9590:Padi1	UTSW	4	140,544,552 (GRCm39)	missense	probably damaging	1.00
X0024:Padi1	UTSW	4	140,555,478 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2014-01-15