Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01644:Palld'

102587

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Palld

Ensembl Gene

ENSMUSG00000058056

Gene Name

palladin, cytoskeletal associated protein

Synonyms

2410003B16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01644

Quality Score

Status

Chromosome

Chromosomal Location

61964467-62355724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62330512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 122 (K122E)

Ref Sequence

ENSEMBL: ENSMUSP00000112442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034057] [ENSMUST00000121785]

AlphaFold

Q9ET54

Predicted Effect

probably benign
Transcript: ENSMUST00000034057
AA Change: K122E

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: K122E

Domain	Start	End	E-Value	Type
IGc2	290	358	1.45e-9	SMART
low complexity region	372	385	N/A	INTRINSIC
IGc2	460	535	1.6e-11	SMART
low complexity region	639	667	N/A	INTRINSIC
IGc2	796	865	3.1e-9	SMART
low complexity region	881	906	N/A	INTRINSIC
IGc2	930	998	4.92e-12	SMART
IGc2	1029	1098	1.61e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121785
AA Change: K122E

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: K122E

Domain	Start	End	E-Value	Type
IGc2	290	358	1.45e-9	SMART
low complexity region	372	385	N/A	INTRINSIC
IGc2	460	535	1.6e-11	SMART
low complexity region	639	673	N/A	INTRINSIC
low complexity region	687	715	N/A	INTRINSIC
low complexity region	765	796	N/A	INTRINSIC
low complexity region	805	840	N/A	INTRINSIC
IGc2	1038	1107	3.1e-9	SMART
low complexity region	1123	1148	N/A	INTRINSIC
IGc2	1172	1240	4.92e-12	SMART
IGc2	1271	1340	1.61e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133752

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg16l2	A	G	7: 100,946,424 (GRCm39)	*82R	probably null	Het
Crb1	T	A	1: 139,165,368 (GRCm39)	R919*	probably null	Het
Csf1	T	C	3: 107,661,158 (GRCm39)	T120A	possibly damaging	Het
Defa29	A	T	8: 21,816,137 (GRCm39)	C77S	possibly damaging	Het
Defb7	A	T	8: 19,547,717 (GRCm39)		probably benign	Het
Ece2	T	C	16: 20,436,616 (GRCm39)	V146A	possibly damaging	Het
Efcab6	T	A	15: 83,917,273 (GRCm39)	S96C	probably damaging	Het
Gm7729	T	C	18: 27,731,872 (GRCm39)		noncoding transcript	Het
Hapln2	G	T	3: 87,929,944 (GRCm39)	R311S	probably damaging	Het
Impg2	C	T	16: 56,080,233 (GRCm39)	P679L	probably benign	Het
Kansl1l	A	G	1: 66,840,475 (GRCm39)	I275T	probably benign	Het
Med29	A	G	7: 28,090,272 (GRCm39)	F108L	probably damaging	Het
Nrxn1	C	T	17: 90,928,301 (GRCm39)	C789Y	possibly damaging	Het
Or10w1	A	T	19: 13,632,768 (GRCm39)		probably benign	Het
Or4c123	T	C	2: 89,126,976 (GRCm39)	I213V	probably benign	Het
Ppl	A	T	16: 4,909,719 (GRCm39)	L864H	probably damaging	Het
Ptov1	C	A	7: 44,516,926 (GRCm39)	E37*	probably null	Het
Sspo	T	C	6: 48,429,436 (GRCm39)	V482A	probably benign	Het
St7l	C	T	3: 104,826,772 (GRCm39)	R377*	probably null	Het
Ttn	G	T	2: 76,585,727 (GRCm39)	P13643T	probably damaging	Het
Vcan	T	A	13: 89,836,794 (GRCm39)	T2917S	probably benign	Het

Other mutations in Palld

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Palld	APN	8	61,968,969 (GRCm39)	missense	possibly damaging	0.77
IGL01083:Palld	APN	8	61,991,841 (GRCm39)	missense	probably benign	0.44
IGL01672:Palld	APN	8	62,330,536 (GRCm39)	missense	probably benign	0.22
IGL01941:Palld	APN	8	61,988,734 (GRCm39)	missense	probably benign	0.44
IGL02037:Palld	APN	8	61,978,148 (GRCm39)	missense	probably damaging	1.00
IGL02126:Palld	APN	8	62,330,476 (GRCm39)	missense	possibly damaging	0.82
IGL02537:Palld	APN	8	62,137,968 (GRCm39)	missense	probably benign	0.05
IGL02632:Palld	APN	8	61,968,279 (GRCm39)	missense	probably damaging	1.00
IGL02809:Palld	APN	8	61,968,281 (GRCm39)	missense	probably damaging	1.00
IGL02901:Palld	APN	8	62,330,029 (GRCm39)	nonsense	probably null
IGL03400:Palld	APN	8	61,966,489 (GRCm39)	missense	probably damaging	1.00
R0098:Palld	UTSW	8	61,978,120 (GRCm39)	missense	probably damaging	1.00
R0098:Palld	UTSW	8	61,978,120 (GRCm39)	missense	probably damaging	1.00
R0745:Palld	UTSW	8	62,330,737 (GRCm39)	missense	probably damaging	1.00
R1263:Palld	UTSW	8	61,966,491 (GRCm39)	frame shift	probably null
R1342:Palld	UTSW	8	61,975,916 (GRCm39)	critical splice donor site	probably null
R1893:Palld	UTSW	8	61,969,655 (GRCm39)	missense	probably damaging	1.00
R2017:Palld	UTSW	8	62,137,799 (GRCm39)	missense	probably damaging	0.99
R2102:Palld	UTSW	8	61,986,467 (GRCm39)	missense	possibly damaging	0.82
R2129:Palld	UTSW	8	62,330,395 (GRCm39)	missense	probably benign	0.00
R2246:Palld	UTSW	8	62,330,169 (GRCm39)	missense	probably benign	0.01
R3545:Palld	UTSW	8	62,003,112 (GRCm39)	missense	possibly damaging	0.95
R3815:Palld	UTSW	8	62,002,871 (GRCm39)	intron	probably benign
R3824:Palld	UTSW	8	62,162,067 (GRCm39)	missense	probably damaging	1.00
R4412:Palld	UTSW	8	62,140,406 (GRCm39)	missense	probably damaging	0.98
R4781:Palld	UTSW	8	62,330,062 (GRCm39)	missense	probably benign	0.01
R4836:Palld	UTSW	8	62,140,415 (GRCm39)	missense	probably benign	0.11
R4871:Palld	UTSW	8	62,002,815 (GRCm39)	intron	probably benign
R4963:Palld	UTSW	8	62,156,244 (GRCm39)	missense	probably damaging	1.00
R5036:Palld	UTSW	8	62,003,196 (GRCm39)	missense	probably damaging	1.00
R5128:Palld	UTSW	8	62,173,622 (GRCm39)	missense	probably damaging	1.00
R5343:Palld	UTSW	8	62,002,849 (GRCm39)	intron	probably benign
R5421:Palld	UTSW	8	61,969,584 (GRCm39)	missense	probably damaging	1.00
R5427:Palld	UTSW	8	62,003,106 (GRCm39)	missense	probably benign	0.01
R5561:Palld	UTSW	8	61,969,619 (GRCm39)	missense	probably damaging	1.00
R5651:Palld	UTSW	8	61,991,822 (GRCm39)	missense	probably damaging	1.00
R5679:Palld	UTSW	8	62,137,979 (GRCm39)	missense	possibly damaging	0.95
R5915:Palld	UTSW	8	61,986,386 (GRCm39)	critical splice donor site	probably null
R6153:Palld	UTSW	8	62,003,186 (GRCm39)	missense	probably damaging	1.00
R6276:Palld	UTSW	8	61,966,457 (GRCm39)	missense	probably damaging	1.00
R6323:Palld	UTSW	8	62,173,727 (GRCm39)	missense	probably damaging	1.00
R6659:Palld	UTSW	8	61,986,477 (GRCm39)	missense	probably benign	0.28
R7016:Palld	UTSW	8	61,969,032 (GRCm39)	missense	probably damaging	1.00
R7124:Palld	UTSW	8	61,969,679 (GRCm39)	missense	unknown
R7145:Palld	UTSW	8	61,985,051 (GRCm39)	missense	unknown
R7386:Palld	UTSW	8	61,985,086 (GRCm39)	missense	unknown
R7407:Palld	UTSW	8	61,968,975 (GRCm39)	nonsense	probably null
R7723:Palld	UTSW	8	62,164,492 (GRCm39)	missense	probably damaging	1.00
R8029:Palld	UTSW	8	62,330,346 (GRCm39)	missense	probably damaging	1.00
R8402:Palld	UTSW	8	62,164,440 (GRCm39)	missense	probably damaging	1.00
R8775:Palld	UTSW	8	62,138,006 (GRCm39)	missense	possibly damaging	0.73
R8775-TAIL:Palld	UTSW	8	62,138,006 (GRCm39)	missense	possibly damaging	0.73
R8887:Palld	UTSW	8	61,986,512 (GRCm39)	missense	unknown
R8906:Palld	UTSW	8	62,003,198 (GRCm39)	critical splice donor site	probably null
R8969:Palld	UTSW	8	62,137,883 (GRCm39)	missense	probably damaging	1.00
R8971:Palld	UTSW	8	61,969,735 (GRCm39)	missense	unknown
R8990:Palld	UTSW	8	61,968,279 (GRCm39)	missense	probably damaging	1.00
R9012:Palld	UTSW	8	62,173,697 (GRCm39)	missense	possibly damaging	0.85
R9145:Palld	UTSW	8	62,330,107 (GRCm39)	missense	probably benign	0.01
R9221:Palld	UTSW	8	61,969,591 (GRCm39)	missense	unknown
R9228:Palld	UTSW	8	62,173,571 (GRCm39)	missense	probably damaging	1.00
R9311:Palld	UTSW	8	61,978,189 (GRCm39)	missense	unknown
R9355:Palld	UTSW	8	61,969,691 (GRCm39)	missense	unknown
R9376:Palld	UTSW	8	61,969,691 (GRCm39)	missense	unknown
R9377:Palld	UTSW	8	61,969,691 (GRCm39)	missense	unknown
R9378:Palld	UTSW	8	61,969,691 (GRCm39)	missense	unknown
R9467:Palld	UTSW	8	61,968,264 (GRCm39)	missense	unknown
R9638:Palld	UTSW	8	62,002,788 (GRCm39)	missense	unknown

Posted On

2014-01-21