Incidental Mutation 'R0598:Padi1'
| ID |
55164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Padi1
|
| Ensembl Gene |
ENSMUSG00000025329 |
| Gene Name |
peptidyl arginine deiminase, type I |
| Synonyms |
Pad type 1, Pdi1 |
| MMRRC Submission |
038787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R0598 (G1)
|
| Quality Score |
199 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
140540294-140573089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 140542098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 608
(R608L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026377]
[ENSMUST00000026378]
|
| AlphaFold |
Q9Z185 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026377
|
| SMART Domains |
Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAD_N
|
1 |
113 |
2.1e-38 |
PFAM |
|
Pfam:PAD_M
|
115 |
273 |
4.2e-61 |
PFAM |
|
Pfam:PAD
|
283 |
661 |
2.3e-169 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026378
AA Change: R608L
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329
AA Change: R608L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151848
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,681 (GRCm39) |
E198D |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,087,980 (GRCm39) |
I1049N |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,369,216 (GRCm39) |
N1014K |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,471 (GRCm39) |
E132G |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,740,601 (GRCm39) |
W42R |
probably damaging |
Het |
| Bptf |
G |
T |
11: 106,963,791 (GRCm39) |
T1738K |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
| Cpt2 |
G |
T |
4: 107,764,135 (GRCm39) |
T543N |
probably damaging |
Het |
| Cstdc7 |
T |
A |
18: 42,306,436 (GRCm39) |
M1K |
probably null |
Het |
| Dnah9 |
T |
C |
11: 66,009,703 (GRCm39) |
E728G |
probably benign |
Het |
| Itgbl1 |
A |
G |
14: 124,094,848 (GRCm39) |
H167R |
possibly damaging |
Het |
| Kctd1 |
A |
G |
18: 15,140,822 (GRCm39) |
V40A |
probably damaging |
Het |
| L3mbtl4 |
T |
G |
17: 68,766,768 (GRCm39) |
D158E |
probably benign |
Het |
| Lrp8 |
A |
C |
4: 107,714,434 (GRCm39) |
I603L |
possibly damaging |
Het |
| Lypd8l |
G |
A |
11: 58,499,230 (GRCm39) |
S196L |
probably benign |
Het |
| Mrps9 |
C |
T |
1: 42,944,577 (GRCm39) |
T365I |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,658 (GRCm39) |
T110S |
possibly damaging |
Het |
| Or1e1 |
G |
T |
11: 73,244,729 (GRCm39) |
R50L |
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,230 (GRCm39) |
D309G |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,271,114 (GRCm39) |
F3146L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,439,770 (GRCm39) |
S189P |
probably damaging |
Het |
| Sez6 |
G |
T |
11: 77,868,647 (GRCm39) |
D974Y |
possibly damaging |
Het |
| St3gal3 |
A |
T |
4: 117,964,829 (GRCm39) |
L11Q |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,579,622 (GRCm39) |
E554G |
probably damaging |
Het |
| Tectb |
G |
T |
19: 55,178,018 (GRCm39) |
E170* |
probably null |
Het |
| Themis2 |
A |
T |
4: 132,516,994 (GRCm39) |
C169S |
possibly damaging |
Het |
| Tmem88b |
A |
T |
4: 155,868,824 (GRCm39) |
D141E |
probably benign |
Het |
| Uaca |
T |
A |
9: 60,778,203 (GRCm39) |
Y685* |
probably null |
Het |
| Vsnl1 |
T |
C |
12: 11,436,860 (GRCm39) |
S40G |
probably benign |
Het |
| Vxn |
T |
G |
1: 9,690,067 (GRCm39) |
I98S |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,633,465 (GRCm39) |
Q905H |
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 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- AACGAAGAAGTGTGTTGTCCTCCTG -3'
(R):5'- AATCTGAGACCCGAGTTCCTGACC -3'
Sequencing Primer
(F):5'- GTAGCCAGCCCACTTTCAG -3'
(R):5'- TGACCAACCCCTAATTCTGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation