Mutagenetix > Incidental Mutation

Incidental Mutation 'R8903:Pald1'

678317

Institutional Source

Beutler Lab

Gene Symbol

Pald1

Ensembl Gene

ENSMUSG00000020092

Gene Name

phosphatase domain containing, paladin 1

Synonyms

paladin, X99384

MMRRC Submission

068760-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R8903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61155435-61219309 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 61182815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020289 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000020289

SMART Domains

Protein: ENSMUSP00000020289
Gene: ENSMUSG00000020092

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

probably null
Transcript: ENSMUST00000020289

SMART Domains

Protein: ENSMUSP00000020289
Gene: ENSMUSG00000020092

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

probably null
Transcript: ENSMUST00000020289

SMART Domains

Protein: ENSMUSP00000020289
Gene: ENSMUSG00000020092

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

probably null
Transcript: ENSMUST00000020289

SMART Domains

Protein: ENSMUSP00000020289
Gene: ENSMUSG00000020092

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

Meta Mutation Damage Score

0.9498

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,815,526 (GRCm39)	F258S	probably damaging	Het
Abca3	A	G	17: 24,602,959 (GRCm39)	Y518C	probably damaging	Het
Ank2	A	T	3: 126,840,431 (GRCm39)	N274K	probably damaging	Het
Ankrd31	C	T	13: 96,969,329 (GRCm39)	L989F	probably damaging	Het
Ano6	A	G	15: 95,825,463 (GRCm39)	R354G	probably benign	Het
Ano8	T	C	8: 71,934,834 (GRCm39)		probably null	Het
Arfgef1	T	C	1: 10,211,838 (GRCm39)	Y1735C	probably damaging	Het
B3gnt8	G	A	7: 25,328,659 (GRCm39)	G363D	probably benign	Het
Calcrl	T	C	2: 84,203,729 (GRCm39)		probably null	Het
Cc2d2b	A	T	19: 40,797,726 (GRCm39)	D782V	unknown	Het
Ccdc162	A	G	10: 41,531,440 (GRCm39)		probably null	Het
Cdkal1	A	T	13: 29,809,918 (GRCm39)	*219R	probably null	Het
Clcnkb	A	T	4: 141,135,160 (GRCm39)	V526D	possibly damaging	Het
Cnbp	A	T	6: 87,821,074 (GRCm39)	C162S	probably damaging	Het
Coq2	A	G	5: 100,811,656 (GRCm39)		probably benign	Het
D6Wsu163e	T	A	6: 126,931,778 (GRCm39)	L270Q	probably damaging	Het
Dennd10	C	T	19: 60,823,423 (GRCm39)	Q353*	probably null	Het
Dnhd1	C	T	7: 105,362,855 (GRCm39)	Q3806*	probably null	Het
Eepd1	T	C	9: 25,394,518 (GRCm39)	F261L	probably benign	Het
Fes	C	T	7: 80,036,559 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,807,681 (GRCm39)	D1333E	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm5113	T	C	7: 29,878,292 (GRCm39)	F127L	probably benign	Het
Grk3	A	G	5: 113,066,697 (GRCm39)	S596P	possibly damaging	Het
Gsk3a	A	G	7: 24,936,814 (GRCm39)	V91A	possibly damaging	Het
Gss	T	C	2: 155,420,279 (GRCm39)	K141E	probably damaging	Het
Il1rl2	A	T	1: 40,366,530 (GRCm39)		probably null	Het
Kcnmb1	A	G	11: 33,914,825 (GRCm39)	Y42C	probably damaging	Het
Krtap16-1	A	T	11: 99,877,170 (GRCm39)	I78N	probably damaging	Het
Lrp2	C	T	2: 69,379,382 (GRCm39)	S110N	possibly damaging	Het
Lrrfip1	T	A	1: 91,012,781 (GRCm39)		probably benign	Het
Magel2	G	T	7: 62,029,441 (GRCm39)	A782S	unknown	Het
Map1b	C	A	13: 99,569,017 (GRCm39)	E1235*	probably null	Het
Mcpt1	A	C	14: 56,257,520 (GRCm39)	H222P	probably benign	Het
Met	T	A	6: 17,549,137 (GRCm39)	N996K	probably benign	Het
Mia	C	A	7: 26,880,230 (GRCm39)	Q52H	probably damaging	Het
Mia	T	A	7: 26,880,231 (GRCm39)	Q52L	possibly damaging	Het
Myh7	T	A	14: 55,230,228 (GRCm39)	K35*	probably null	Het
Myt1l	T	A	12: 29,861,468 (GRCm39)	D83E	unknown	Het
Nbl1	A	G	4: 138,810,861 (GRCm39)	V111A	probably damaging	Het
Nid1	T	A	13: 13,638,515 (GRCm39)	V145D	probably benign	Het
Nif3l1	C	T	1: 58,486,653 (GRCm39)		probably benign	Het
Npnt	T	C	3: 132,591,764 (GRCm39)	Y500C	probably damaging	Het
Nubpl	T	A	12: 52,144,676 (GRCm39)		probably null	Het
Nxpe4	T	A	9: 48,310,250 (GRCm39)	D504E	probably damaging	Het
Obsl1	A	G	1: 75,463,917 (GRCm39)	V1696A	possibly damaging	Het
Or56a3	A	T	7: 104,735,329 (GRCm39)	R135S	possibly damaging	Het
Or8s2	A	T	15: 98,276,475 (GRCm39)	I172N	probably damaging	Het
P2rx1	A	T	11: 72,900,821 (GRCm39)	H224L	probably benign	Het
Pard6g	C	T	18: 80,160,411 (GRCm39)	R175*	probably null	Het
Pisd	A	G	5: 32,895,755 (GRCm39)	I271T	probably benign	Het
Prrt3	T	C	6: 113,472,796 (GRCm39)	S459G	probably damaging	Het
Psd3	A	T	8: 68,165,945 (GRCm39)	C328S	unknown	Het
Psme1	A	G	14: 55,817,853 (GRCm39)	E120G		Het
Pum3	A	T	19: 27,397,457 (GRCm39)	M306K	possibly damaging	Het
Pxdn	T	C	12: 30,040,992 (GRCm39)	F423L	probably benign	Het
Rac3	A	G	11: 120,614,071 (GRCm39)	D118G	probably damaging	Het
Rnf14	A	G	18: 38,446,267 (GRCm39)	K357E	probably benign	Het
Rpl23a	T	C	11: 78,073,720 (GRCm39)	I40V	probably benign	Het
Slc5a5	A	T	8: 71,345,227 (GRCm39)	S27T	probably damaging	Het
Slc7a14	A	T	3: 31,277,595 (GRCm39)	L670Q	probably damaging	Het
Snorc	C	T	1: 87,402,826 (GRCm39)	T52I	probably damaging	Het
Sst	T	A	16: 23,708,499 (GRCm39)	K111*	probably null	Het
Stxbp4	A	G	11: 90,426,267 (GRCm39)	S514P	unknown	Het
Susd1	T	A	4: 59,390,576 (GRCm39)	T300S	probably benign	Het
Tecpr1	C	T	5: 144,150,845 (GRCm39)		probably benign	Het
Tmem185b	C	T	1: 119,454,198 (GRCm39)		probably benign	Het
Tor2a	T	A	2: 32,651,699 (GRCm39)	F305I	probably damaging	Het
Ttk	T	A	9: 83,750,113 (GRCm39)	D689E	probably damaging	Het
Tut4	A	T	4: 108,336,408 (GRCm39)	D44V	probably damaging	Het
Usp25	A	G	16: 76,878,421 (GRCm39)	D615G	probably damaging	Het
Vmn1r209	A	G	13: 22,990,684 (GRCm39)	V2A	probably benign	Het
Vmn2r80	A	C	10: 79,017,928 (GRCm39)	E551A	probably damaging	Het
Wac	G	T	18: 7,926,104 (GRCm39)	E636*	probably null	Het
Wdr53	T	A	16: 32,071,130 (GRCm39)	D158E	probably damaging	Het
Zbtb7c	T	C	18: 76,270,152 (GRCm39)	V80A	probably damaging	Het

Other mutations in Pald1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Pald1	APN	10	61,182,920 (GRCm39)	splice site	probably benign
IGL03068:Pald1	APN	10	61,156,963 (GRCm39)	missense	possibly damaging	0.94
IGL03106:Pald1	APN	10	61,182,884 (GRCm39)	missense	probably benign	0.41
R0331:Pald1	UTSW	10	61,176,708 (GRCm39)	critical splice donor site	probably null
R0497:Pald1	UTSW	10	61,177,094 (GRCm39)	missense	probably damaging	0.99
R1181:Pald1	UTSW	10	61,183,366 (GRCm39)	splice site	probably benign
R1437:Pald1	UTSW	10	61,177,064 (GRCm39)	missense	possibly damaging	0.63
R1466:Pald1	UTSW	10	61,184,304 (GRCm39)	splice site	probably benign
R1827:Pald1	UTSW	10	61,191,701 (GRCm39)	small deletion	probably benign
R2129:Pald1	UTSW	10	61,184,085 (GRCm39)	critical splice donor site	probably null
R2184:Pald1	UTSW	10	61,182,915 (GRCm39)	missense	possibly damaging	0.46
R2260:Pald1	UTSW	10	61,188,750 (GRCm39)	missense	probably damaging	1.00
R3051:Pald1	UTSW	10	61,182,542 (GRCm39)	nonsense	probably null
R3690:Pald1	UTSW	10	61,191,587 (GRCm39)	splice site	probably null
R3713:Pald1	UTSW	10	61,178,144 (GRCm39)	missense	possibly damaging	0.67
R3876:Pald1	UTSW	10	61,183,266 (GRCm39)	missense	probably damaging	0.97
R4261:Pald1	UTSW	10	61,179,471 (GRCm39)	missense	probably damaging	1.00
R4600:Pald1	UTSW	10	61,184,395 (GRCm39)	missense	probably benign	0.00
R4603:Pald1	UTSW	10	61,184,395 (GRCm39)	missense	probably benign	0.00
R5069:Pald1	UTSW	10	61,177,025 (GRCm39)	missense	possibly damaging	0.50
R5354:Pald1	UTSW	10	61,184,440 (GRCm39)	missense	probably damaging	1.00
R5590:Pald1	UTSW	10	61,179,489 (GRCm39)	missense	probably damaging	1.00
R5705:Pald1	UTSW	10	61,159,076 (GRCm39)	missense	possibly damaging	0.90
R5780:Pald1	UTSW	10	61,174,997 (GRCm39)	missense	probably damaging	1.00
R6239:Pald1	UTSW	10	61,156,910 (GRCm39)	missense	possibly damaging	0.59
R6380:Pald1	UTSW	10	61,186,714 (GRCm39)	missense	possibly damaging	0.86
R6812:Pald1	UTSW	10	61,178,701 (GRCm39)	missense	possibly damaging	0.53
R6891:Pald1	UTSW	10	61,184,311 (GRCm39)	critical splice donor site	probably null
R6949:Pald1	UTSW	10	61,156,996 (GRCm39)	missense	probably benign	0.23
R7038:Pald1	UTSW	10	61,175,078 (GRCm39)	missense	probably benign
R7051:Pald1	UTSW	10	61,159,125 (GRCm39)	missense	probably benign	0.26
R7188:Pald1	UTSW	10	61,182,845 (GRCm39)	missense	probably damaging	0.99
R7339:Pald1	UTSW	10	61,159,110 (GRCm39)	missense	possibly damaging	0.60
R7831:Pald1	UTSW	10	61,191,593 (GRCm39)	missense	probably damaging	1.00
R8000:Pald1	UTSW	10	61,183,218 (GRCm39)	missense	probably benign	0.00
R8710:Pald1	UTSW	10	61,183,232 (GRCm39)	missense	probably benign	0.03
R9255:Pald1	UTSW	10	61,176,989 (GRCm39)	critical splice donor site	probably null
R9414:Pald1	UTSW	10	61,178,932 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCTTCAGGTCATGCAACTC -3'
(R):5'- ATTTGATGCCTCCCAGTGGC -3'

Sequencing Primer
(F):5'- ATCGCTCGATCCACCTAGG -3'
(R):5'- ATGCCTCCCAGTGGCTGATG -3'

Posted On

2021-08-02