Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02901:Palld'

363582

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 #

IGL02901

Quality Score

Status

Chromosome

Chromosomal Location

61964467-62355724 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 62330029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 283 (K283*)

Ref Sequence

ENSEMBL: ENSMUSP00000112442 (fasta)

Gene Model

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

AlphaFold

Q9ET54

Predicted Effect

probably null
Transcript: ENSMUST00000034057
AA Change: K283*

SMART Domains

Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: K283*

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 null
Transcript: ENSMUST00000121785
AA Change: K283*

SMART Domains

Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: K283*

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	T	2: 131,403,524 (GRCm39)	Y189N	probably damaging	Het
Ahdc1	A	G	4: 132,792,245 (GRCm39)	D1162G	possibly damaging	Het
Alpk2	A	G	18: 65,439,482 (GRCm39)	M637T	probably benign	Het
Arvcf	G	A	16: 18,216,992 (GRCm39)	A440T	probably damaging	Het
BC051665	A	T	13: 60,932,532 (GRCm39)	V51E	probably damaging	Het
Clca3a2	A	T	3: 144,522,529 (GRCm39)	V164E	probably damaging	Het
Cox6a2	A	C	7: 127,805,454 (GRCm39)	L5R	probably damaging	Het
Cpsf1	A	T	15: 76,483,696 (GRCm39)	L849*	probably null	Het
Dclk1	A	G	3: 55,395,208 (GRCm39)		probably benign	Het
Fam120b	T	A	17: 15,627,964 (GRCm39)		probably benign	Het
Iqub	A	G	6: 24,454,194 (GRCm39)	L563P	probably damaging	Het
Itgb3	A	T	11: 104,528,772 (GRCm39)	I300F	probably benign	Het
Mdga2	A	G	12: 66,844,583 (GRCm39)		probably benign	Het
Mfsd6	A	G	1: 52,747,632 (GRCm39)	I411T	probably benign	Het
Misp	A	T	10: 79,662,771 (GRCm39)	Y396F	possibly damaging	Het
Nhsl2	T	A	X: 101,122,849 (GRCm39)	V884D	probably benign	Het
Nxf7	A	T	X: 134,487,984 (GRCm39)		probably null	Het
Or10al4	T	A	17: 38,037,311 (GRCm39)	I132K	probably damaging	Het
Or4b12	G	A	2: 90,096,052 (GRCm39)	H241Y	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Proc	T	G	18: 32,256,678 (GRCm39)	T330P	possibly damaging	Het
Prpf38a	T	C	4: 108,425,615 (GRCm39)	D221G	probably damaging	Het
Prss55	T	A	14: 64,314,576 (GRCm39)	N198I	probably damaging	Het
Rabggta	A	G	14: 55,959,138 (GRCm39)	S10P	probably benign	Het
Sbk2	A	G	7: 4,960,289 (GRCm39)	Y294H	possibly damaging	Het
Smyd1	A	G	6: 71,215,614 (GRCm39)	V115A	probably benign	Het
Trpm7	A	G	2: 126,649,207 (GRCm39)		probably null	Het
Ttc21a	A	G	9: 119,787,347 (GRCm39)	N751S	probably damaging	Het
Upk1a	A	T	7: 30,303,204 (GRCm39)	M241K	possibly damaging	Het
Vmn2r71	A	C	7: 85,268,470 (GRCm39)	E224D	probably benign	Het
Vmn2r81	C	T	10: 79,106,564 (GRCm39)	T514I	probably damaging	Het
Zkscan16	T	C	4: 58,946,283 (GRCm39)	W53R	probably damaging	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
IGL01644:Palld	APN	8	62,330,512 (GRCm39)	missense	probably benign	0.28
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
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

2015-12-18