Mutagenetix > Incidental Mutation

Incidental Mutation 'R4261:Pald1'

322662

Institutional Source

Beutler Lab

Gene Symbol

Pald1

Ensembl Gene

ENSMUSG00000020092

Gene Name

phosphatase domain containing, paladin 1

Synonyms

paladin, X99384

MMRRC Submission

041074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R4261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61319656-61383530 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61343692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 466 (L466P)

Ref Sequence

ENSEMBL: ENSMUSP00000020289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020289]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020289
AA Change: L466P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020289
Gene: ENSMUSG00000020092
AA Change: L466P

Domain	Start	End	E-Value	Type
low complexity region	2	37	N/A	INTRINSIC
PTPlike_phytase	164	333	4.33e-53	SMART
low complexity region	428	441	N/A	INTRINSIC
PTPlike_phytase	548	682	5.37e-49	SMART
low complexity region	757	768	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219240

Meta Mutation Damage Score

0.8487

Coding Region Coverage

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

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,995,234	S298P	probably damaging	Het
4930407I10Rik	A	G	15: 82,063,726	D608G	possibly damaging	Het
Actr10	T	C	12: 70,952,985	V185A	probably benign	Het
Adam9	G	A	8: 24,964,907	Q733*	probably null	Het
Adamts4	C	T	1: 171,259,104	P822S	probably benign	Het
Arhgap9	G	C	10: 127,328,465	R537P	probably damaging	Het
Bsn	T	A	9: 108,110,684		probably benign	Het
Car5a	A	T	8: 121,944,749	H15Q	probably benign	Het
Disp1	A	T	1: 183,089,386	I490N	probably damaging	Het
Dlgap5	T	G	14: 47,413,788	Y96S	probably damaging	Het
Dnah10	T	A	5: 124,730,137	V162D	possibly damaging	Het
Dock7	A	T	4: 99,003,886	M821K	possibly damaging	Het
Exoc3l	T	C	8: 105,290,967	R528G	probably damaging	Het
Fam234b	G	A	6: 135,209,136	G17E	unknown	Het
Grhl2	G	A	15: 37,360,823	G617D	possibly damaging	Het
Herc1	CTGAGGACTCTTTG	CTG	9: 66,448,348		probably null	Het
Hoxd9	C	A	2: 74,695,687		probably benign	Het
Hspa9	A	G	18: 34,939,423	S550P	probably damaging	Het
Ide	A	C	19: 37,329,186	S63A	unknown	Het
Kat6b	T	A	14: 21,669,669	I1363N	probably damaging	Het
Ltbp1	T	A	17: 75,291,367	C614*	probably null	Het
Mphosph8	A	G	14: 56,674,465	D315G	probably benign	Het
Mthfr-ps1	A	C	5: 78,474,483		noncoding transcript	Het
Mug1	A	G	6: 121,873,734	T730A	probably benign	Het
Myef2	T	C	2: 125,115,479	T119A	possibly damaging	Het
Pcdh15	G	A	10: 74,645,680	V286M	probably damaging	Het
Pcdhgb2	A	G	18: 37,691,897	D647G	probably damaging	Het
Pdgfrb	A	C	18: 61,077,631	T737P	probably benign	Het
Pgk2	T	G	17: 40,207,383	T385P	probably benign	Het
Pkp4	A	G	2: 59,305,162	Y126C	probably damaging	Het
Plppr1	A	G	4: 49,300,993	I109V	probably benign	Het
Ppcs	A	G	4: 119,421,909	F149L	probably damaging	Het
Ppp2r5d	G	A	17: 46,687,081	Q219*	probably null	Het
Raf1	C	T	6: 115,623,054		probably null	Het
Rfx7	C	T	9: 72,616,643	R372W	probably damaging	Het
Robo4	C	A	9: 37,405,581	S397R	probably benign	Het
Sat1	T	C	X: 155,215,186		probably benign	Het
Serpina1c	T	C	12: 103,897,080	K287R	probably benign	Het
Sgsm2	T	A	11: 74,892,028	H34L	probably damaging	Het
Slc38a4	A	G	15: 96,998,493	Y498H	probably damaging	Het
Ttn	T	A	2: 76,798,040	Y14592F	probably damaging	Het
Ube3b	T	C	5: 114,398,428	F245S	possibly damaging	Het
Ugt3a2	G	A	15: 9,335,793		probably null	Het
Wdr91	T	A	6: 34,904,522	S297C	possibly damaging	Het
Zcwpw2	T	C	9: 117,998,914		noncoding transcript	Het

Other mutations in Pald1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Pald1	APN	10	61347141	splice site	probably benign
IGL03068:Pald1	APN	10	61321184	missense	possibly damaging	0.94
IGL03106:Pald1	APN	10	61347105	missense	probably benign	0.41
R0331:Pald1	UTSW	10	61340929	critical splice donor site	probably null
R0497:Pald1	UTSW	10	61341315	missense	probably damaging	0.99
R1181:Pald1	UTSW	10	61347587	splice site	probably benign
R1437:Pald1	UTSW	10	61341285	missense	possibly damaging	0.63
R1466:Pald1	UTSW	10	61348525	splice site	probably benign
R1827:Pald1	UTSW	10	61355922	small deletion	probably benign
R2129:Pald1	UTSW	10	61348306	critical splice donor site	probably null
R2184:Pald1	UTSW	10	61347136	missense	possibly damaging	0.46
R2260:Pald1	UTSW	10	61352971	missense	probably damaging	1.00
R3051:Pald1	UTSW	10	61346763	nonsense	probably null
R3690:Pald1	UTSW	10	61355808	splice site	probably null
R3713:Pald1	UTSW	10	61342365	missense	possibly damaging	0.67
R3876:Pald1	UTSW	10	61347487	missense	probably damaging	0.97
R4600:Pald1	UTSW	10	61348616	missense	probably benign	0.00
R4603:Pald1	UTSW	10	61348616	missense	probably benign	0.00
R5069:Pald1	UTSW	10	61341246	missense	possibly damaging	0.50
R5354:Pald1	UTSW	10	61348661	missense	probably damaging	1.00
R5590:Pald1	UTSW	10	61343710	missense	probably damaging	1.00
R5705:Pald1	UTSW	10	61323297	missense	possibly damaging	0.90
R5780:Pald1	UTSW	10	61339218	missense	probably damaging	1.00
R6239:Pald1	UTSW	10	61321131	missense	possibly damaging	0.59
R6380:Pald1	UTSW	10	61350935	missense	possibly damaging	0.86
R6812:Pald1	UTSW	10	61342922	missense	possibly damaging	0.53
R6891:Pald1	UTSW	10	61348532	critical splice donor site	probably null
R6949:Pald1	UTSW	10	61321217	missense	probably benign	0.23
R7038:Pald1	UTSW	10	61339299	missense	probably benign
R7051:Pald1	UTSW	10	61323346	missense	probably benign	0.26
R7188:Pald1	UTSW	10	61347066	missense	probably damaging	0.99
R7339:Pald1	UTSW	10	61323331	missense	possibly damaging	0.60
R7831:Pald1	UTSW	10	61355814	missense	probably damaging	1.00
R8000:Pald1	UTSW	10	61347439	missense	probably benign	0.00
R8710:Pald1	UTSW	10	61347453	missense	probably benign	0.03
R8903:Pald1	UTSW	10	61347036	critical splice donor site	probably null
R9255:Pald1	UTSW	10	61341210	critical splice donor site	probably null
R9414:Pald1	UTSW	10	61343153	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTCTGTGTCAAAGCTCTGGG -3'
(R):5'- TCACAGTGATACCTTTCGGGC -3'

Sequencing Primer
(F):5'- GGCACATTCTGCTCACATGAG -3'
(R):5'- CTCCCTTTCTGTGGCTAGGCAG -3'

Posted On

2015-06-20