Mutagenetix > Incidental Mutation

Incidental Mutation 'R4926:Padi1'

379016

Institutional Source

Beutler Lab

Gene Symbol

Padi1

Ensembl Gene

ENSMUSG00000025329

Gene Name

peptidyl arginine deiminase, type I

Synonyms

Pad type 1, Pdi1

MMRRC Submission

042527-MU

Accession Numbers

Essential gene?

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

Stock #

R4926 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

140540294-140573089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140552158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 429 (I429F)

Ref Sequence

ENSEMBL: ENSMUSP00000026378 (fasta)

Gene Model

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

AlphaFold

Q9Z185

Predicted Effect

probably damaging
Transcript: ENSMUST00000026378
AA Change: I429F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329
AA Change: I429F

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

Meta Mutation Damage Score

0.7263

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (87/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	T	9: 108,272,498 (GRCm39)	D136V	probably damaging	Het
Ankrd17	G	A	5: 90,447,891 (GRCm39)	R217W	probably damaging	Het
Ankrd23	A	T	1: 36,571,068 (GRCm39)	H102Q	probably damaging	Het
Arfip2	G	T	7: 105,287,151 (GRCm39)	R138S	probably damaging	Het
Arhgap27	A	T	11: 103,229,949 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,307,563 (GRCm39)	L1499P	probably damaging	Het
Bnc2	A	G	4: 84,194,416 (GRCm39)	S110P	probably damaging	Het
Ccdc171	T	C	4: 83,476,829 (GRCm39)		probably benign	Het
Ccdc7a	A	G	8: 129,706,535 (GRCm39)		probably benign	Het
Chd5	T	C	4: 152,467,768 (GRCm39)	S1689P	probably benign	Het
Corin	A	G	5: 72,529,525 (GRCm39)	C212R	probably damaging	Het
Cyp2c65	A	G	19: 39,049,597 (GRCm39)	I42V	probably benign	Het
Cyp3a25	G	A	5: 145,928,266 (GRCm39)	R260C	probably damaging	Het
Dock6	T	C	9: 21,757,087 (GRCm39)	Y116C	probably damaging	Het
Eif3a	A	G	19: 60,751,656 (GRCm39)		probably benign	Het
Epop	T	C	11: 97,519,143 (GRCm39)	D322G	probably damaging	Het
Eps8l3	T	A	3: 107,798,004 (GRCm39)		probably benign	Het
Exph5	T	C	9: 53,287,925 (GRCm39)	S1669P	possibly damaging	Het
Faah	A	T	4: 115,856,823 (GRCm39)		probably benign	Het
Fanca	A	G	8: 124,030,724 (GRCm39)	C453R	probably benign	Het
Fcgbp	T	A	7: 27,785,660 (GRCm39)	C366S	probably damaging	Het
Fmn2	A	G	1: 174,329,981 (GRCm39)	T124A	unknown	Het
Foxi3	C	T	6: 70,933,996 (GRCm39)	S161L	probably damaging	Het
Foxo3	A	T	10: 42,073,020 (GRCm39)	V499E	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gbgt1	T	C	2: 28,393,182 (GRCm39)	V90A	probably damaging	Het
Gm839	A	C	6: 89,189,581 (GRCm39)		noncoding transcript	Het
Gtf3c2	T	C	5: 31,326,467 (GRCm39)	E348G	possibly damaging	Het
Hnrnpm	G	T	17: 33,868,775 (GRCm39)	R551S	probably damaging	Het
Hspa1l	A	G	17: 35,197,199 (GRCm39)	T413A	possibly damaging	Het
Hspg2	T	C	4: 137,269,841 (GRCm39)	Y2297H	probably damaging	Het
Ighv1-81	T	A	12: 115,884,093 (GRCm39)	I53L	probably benign	Het
Kcnj11	C	T	7: 45,748,544 (GRCm39)	V260I	probably benign	Het
Krt84	A	G	15: 101,438,689 (GRCm39)	V266A	probably benign	Het
Lgals3bp	T	C	11: 118,284,781 (GRCm39)	Y266C	probably damaging	Het
Lrrc41	T	C	4: 115,946,521 (GRCm39)	V412A	possibly damaging	Het
Map4k4	A	T	1: 40,056,385 (GRCm39)	E1023D	probably damaging	Het
Mark3	T	A	12: 111,584,758 (GRCm39)	L118*	probably null	Het
Mrgpra9	T	A	7: 46,884,759 (GRCm39)	T303S	possibly damaging	Het
Mterf4	T	C	1: 93,232,647 (GRCm39)	E68G	probably benign	Het
Nckap5	A	C	1: 126,456,378 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,169 (GRCm39)	T339S	probably damaging	Het
Nrip2	A	C	6: 128,385,337 (GRCm39)	H256P	probably benign	Het
Oas1d	T	C	5: 121,053,831 (GRCm39)	V97A	probably benign	Het
Obox2	T	A	7: 15,131,102 (GRCm39)		probably null	Het
Opa1	T	C	16: 29,467,791 (GRCm39)	F989S	possibly damaging	Het
Or10g9	T	C	9: 39,912,319 (GRCm39)		probably null	Het
Paics	A	G	5: 77,109,051 (GRCm39)	D163G	probably damaging	Het
Pik3c2b	G	T	1: 133,027,364 (GRCm39)	E1288*	probably null	Het
Prdm16	A	T	4: 154,426,009 (GRCm39)	V593D	possibly damaging	Het
Prpf39	A	G	12: 65,090,830 (GRCm39)	I165M	possibly damaging	Het
Pth2r	A	G	1: 65,361,143 (GRCm39)	T26A	probably benign	Het
Ptpn21	T	C	12: 98,681,454 (GRCm39)		probably null	Het
Rab44	C	T	17: 29,358,529 (GRCm39)	A239V	probably benign	Het
Rtcb	T	C	10: 85,791,600 (GRCm39)	N52S	probably benign	Het
Sapcd2	T	A	2: 25,263,578 (GRCm39)		probably null	Het
Scaf11	T	C	15: 96,316,123 (GRCm39)	E1147G	possibly damaging	Het
Selenoo	T	C	15: 88,983,881 (GRCm39)	Y595H	probably damaging	Het
Slc2a5	G	T	4: 150,205,199 (GRCm39)	E3*	probably null	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sorbs2	A	G	8: 46,249,254 (GRCm39)	K755R	probably benign	Het
Sorbs3	G	T	14: 70,424,394 (GRCm39)	P513T	probably damaging	Het
Sowaha	T	A	11: 53,370,337 (GRCm39)	E133V	possibly damaging	Het
Srsf5	T	C	12: 80,994,075 (GRCm39)		probably benign	Het
St8sia5	T	A	18: 77,342,478 (GRCm39)	M396K	possibly damaging	Het
Tcp11l1	T	C	2: 104,512,130 (GRCm39)	I501V	probably benign	Het
Tert	A	G	13: 73,796,508 (GRCm39)	K1080E	possibly damaging	Het
Tescl	T	A	7: 24,033,323 (GRCm39)	M1L	possibly damaging	Het
Thop1	T	A	10: 80,909,201 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,210,618 (GRCm39)	H80R	probably damaging	Het
Toe1	C	T	4: 116,661,729 (GRCm39)	S480N	probably damaging	Het
Trap1	C	A	16: 3,863,352 (GRCm39)	V557F	probably benign	Het
Trim30d	T	C	7: 104,132,564 (GRCm39)	E91G	probably benign	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttll8	C	A	15: 88,798,368 (GRCm39)	G789V	probably damaging	Het
Ulk4	A	G	9: 121,087,798 (GRCm39)	F298S	probably benign	Het
Wwc1	C	T	11: 35,780,227 (GRCm39)	A243T	probably benign	Het
Zfp248	A	C	6: 118,406,787 (GRCm39)	H267Q	possibly damaging	Het
Zfyve26	T	A	12: 79,321,785 (GRCm39)	M945L	probably benign	Het
Zup1	T	C	10: 33,825,434 (GRCm39)	D16G	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
R1164:Padi1	UTSW	4	140,559,640 (GRCm39)	missense	possibly damaging	0.50
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
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

PCR Primer
(F):5'- CCACTAATTTGACCCTGAGACC -3'
(R):5'- GAGCAGATATCCCATGTCCTCG -3'

Sequencing Primer
(F):5'- GACCCTGAGACCTTATAATCTGTTGG -3'
(R):5'- CTCGCTTCTGCTAGGCATGG -3'

Posted On

2016-04-15