Mutagenetix > Incidental Mutation

Incidental Mutation 'R3964:Pls1'

312258

Institutional Source

Beutler Lab

Gene Symbol

Pls1

Ensembl Gene

ENSMUSG00000049493

Gene Name

plastin 1 (I-isoform)

Synonyms

I-fimbrin

MMRRC Submission

040933-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R3964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95634695-95727359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95667665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 81 (Q81R)

Ref Sequence

ENSEMBL: ENSMUSP00000113200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093800] [ENSMUST00000119760]

AlphaFold

Q3V0K9

Predicted Effect

probably benign
Transcript: ENSMUST00000093800
AA Change: Q81R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091317
Gene: ENSMUSG00000049493
AA Change: Q81R

Domain	Start	End	E-Value	Type
EFh	15	43	8.5e-5	SMART
EFh	55	83	1.73e-5	SMART
low complexity region	100	116	N/A	INTRINSIC
CH	124	236	3.69e-23	SMART
CH	268	375	4.4e-21	SMART
CH	398	503	7.27e-22	SMART
CH	519	624	3.75e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119760
AA Change: Q81R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113200
Gene: ENSMUSG00000049493
AA Change: Q81R

Domain	Start	End	E-Value	Type
EFh	15	43	8.5e-5	SMART
EFh	55	83	1.73e-5	SMART
low complexity region	100	116	N/A	INTRINSIC
PDB:1AOA\|A	117	138	2e-6	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135816

Meta Mutation Damage Score

0.0679

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous inactivation for this gene leads to altered intestinal morphology and physiology, increased brush border fragility and susceptibility to induced colitis, as well as a moderate and progressive form of hearing loss associated with defects in stereocilia morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	A	12: 81,607,583 (GRCm39)	A60S	possibly damaging	Het
Arpp21	C	G	9: 111,894,844 (GRCm39)	V805L	probably damaging	Het
C1galt1c1	A	T	X: 37,720,453 (GRCm39)	V181E	probably benign	Het
Cdh18	A	T	15: 23,474,187 (GRCm39)	T686S	probably benign	Het
Cemip	T	A	7: 83,600,717 (GRCm39)	Y968F	probably benign	Het
Cep70	T	A	9: 99,180,587 (GRCm39)	F581I	probably damaging	Het
Ctc1	T	A	11: 68,921,954 (GRCm39)	V800D	probably damaging	Het
Cttnbp2nl	T	C	3: 104,913,321 (GRCm39)	K188E	probably damaging	Het
Cux1	A	G	5: 136,311,796 (GRCm39)	V1180A	probably damaging	Het
Cux2	G	T	5: 122,025,539 (GRCm39)	S43*	probably null	Het
Dhx57	T	A	17: 80,572,541 (GRCm39)	K711*	probably null	Het
Ehbp1l1	C	T	19: 5,760,601 (GRCm39)		probably null	Het
Esyt3	T	A	9: 99,202,375 (GRCm39)	D512V	probably damaging	Het
Gadl1	T	C	9: 115,794,676 (GRCm39)	S284P	probably damaging	Het
Gm14137	T	A	2: 119,005,497 (GRCm39)	S19T	probably benign	Het
Gpr141b	A	G	13: 19,913,614 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gsdmc2	A	G	15: 63,721,683 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,449,320 (GRCm39)	T110A	probably benign	Het
Il23r	G	A	6: 67,443,281 (GRCm39)	T274I	probably benign	Het
Inhbb	C	A	1: 119,345,291 (GRCm39)	G333W	probably damaging	Het
Kcnb1	C	T	2: 166,946,412 (GRCm39)	C812Y	probably damaging	Het
Lrp1b	A	G	2: 41,202,482 (GRCm39)		probably benign	Het
Med31	C	T	11: 72,102,755 (GRCm39)	A118T	probably benign	Het
Mov10l1	A	G	15: 88,896,366 (GRCm39)	I737V	probably benign	Het
Mrs2	A	G	13: 25,185,746 (GRCm39)	I142T	possibly damaging	Het
Ms4a6b	T	C	19: 11,499,098 (GRCm39)	S71P	probably benign	Het
Muc2	G	A	7: 141,286,233 (GRCm39)	R120H	probably benign	Het
Muc5b	A	T	7: 141,420,705 (GRCm39)	I4191F	possibly damaging	Het
Myrf	T	C	19: 10,196,979 (GRCm39)	E267G	probably benign	Het
Nfatc2	C	T	2: 168,346,469 (GRCm39)	S875N	probably benign	Het
Nmi	T	C	2: 51,846,081 (GRCm39)	E67G	possibly damaging	Het
Nrap	T	C	19: 56,330,576 (GRCm39)	S1126G	probably damaging	Het
Nucb2	A	G	7: 116,128,110 (GRCm39)	E273G	probably damaging	Het
Or10g9	A	T	9: 39,911,767 (GRCm39)	V252E	possibly damaging	Het
Or1j4	A	G	2: 36,740,729 (GRCm39)	T224A	probably benign	Het
Or8b1b	T	C	9: 38,375,979 (GRCm39)	I214T	probably benign	Het
Or8b51	G	A	9: 38,569,023 (GRCm39)	L222F	probably benign	Het
Pcdhga12	A	T	18: 37,900,254 (GRCm39)	Q362L	probably benign	Het
Peak1	C	T	9: 56,167,263 (GRCm39)	E222K	probably damaging	Het
Pik3r1	T	C	13: 101,825,193 (GRCm39)	E458G	possibly damaging	Het
Plxdc2	T	A	2: 16,665,651 (GRCm39)	F284I	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pole	A	G	5: 110,460,648 (GRCm39)	K1143E	probably damaging	Het
Ppfia4	A	T	1: 134,250,754 (GRCm39)	D478E	probably benign	Het
Ptprd	A	G	4: 75,978,073 (GRCm39)		probably benign	Het
Ptprj	A	G	2: 90,298,785 (GRCm39)	I315T	probably benign	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Rnf13	G	A	3: 57,676,533 (GRCm39)	G63S	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shld2	T	A	14: 33,981,644 (GRCm39)	Q498L	probably damaging	Het
Slc50a1	T	C	3: 89,176,093 (GRCm39)	I151V	probably benign	Het
Snx27	T	A	3: 94,438,613 (GRCm39)	R207S	probably damaging	Het
Sos1	C	T	17: 80,762,608 (GRCm39)	R73H	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,523 (GRCm39)	E975G	possibly damaging	Het
Tbccd1	A	G	16: 22,660,523 (GRCm39)	S98P	probably damaging	Het
Timd5	T	A	11: 46,426,340 (GRCm39)	V149D	possibly damaging	Het
Tmx4	T	C	2: 134,441,981 (GRCm39)	I206V	possibly damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Usp19	T	A	9: 108,375,228 (GRCm39)	V818E	probably damaging	Het
Wdr38	A	G	2: 38,889,362 (GRCm39)	Y51C	probably damaging	Het
Zfp456	T	C	13: 67,514,900 (GRCm39)	T269A	probably benign	Het
Zfp628	T	C	7: 4,924,744 (GRCm39)	S989P	probably benign	Het

Other mutations in Pls1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Pls1	APN	9	95,664,472 (GRCm39)	missense	possibly damaging	0.95
IGL00836:Pls1	APN	9	95,643,475 (GRCm39)	missense	possibly damaging	0.86
IGL01391:Pls1	APN	9	95,655,751 (GRCm39)	missense	probably benign	0.38
IGL02335:Pls1	APN	9	95,666,236 (GRCm39)	missense	probably benign	0.32
IGL02875:Pls1	APN	9	95,636,404 (GRCm39)	missense	possibly damaging	0.93
IGL03081:Pls1	APN	9	95,655,696 (GRCm39)	missense	probably damaging	1.00
IGL03271:Pls1	APN	9	95,658,883 (GRCm39)	missense	probably benign	0.04
PIT4585001:Pls1	UTSW	9	95,643,443 (GRCm39)	missense	probably benign
R0048:Pls1	UTSW	9	95,669,116 (GRCm39)	missense	probably damaging	1.00
R0088:Pls1	UTSW	9	95,677,821 (GRCm39)	missense	possibly damaging	0.93
R0409:Pls1	UTSW	9	95,668,972 (GRCm39)	splice site	probably benign
R2015:Pls1	UTSW	9	95,643,418 (GRCm39)	missense	possibly damaging	0.77
R2516:Pls1	UTSW	9	95,658,616 (GRCm39)	missense	probably benign	0.00
R2985:Pls1	UTSW	9	95,667,635 (GRCm39)	missense	possibly damaging	0.73
R3965:Pls1	UTSW	9	95,667,665 (GRCm39)	missense	probably benign	0.00
R5240:Pls1	UTSW	9	95,658,675 (GRCm39)	splice site	probably null
R5681:Pls1	UTSW	9	95,669,065 (GRCm39)	missense	probably damaging	1.00
R6399:Pls1	UTSW	9	95,636,798 (GRCm39)	missense	probably damaging	0.99
R6441:Pls1	UTSW	9	95,636,798 (GRCm39)	missense	probably damaging	0.99
R6496:Pls1	UTSW	9	95,636,798 (GRCm39)	missense	probably damaging	0.99
R6498:Pls1	UTSW	9	95,636,798 (GRCm39)	missense	probably damaging	0.99
R6499:Pls1	UTSW	9	95,636,798 (GRCm39)	missense	probably damaging	0.99
R7016:Pls1	UTSW	9	95,668,994 (GRCm39)	missense	probably damaging	1.00
R7177:Pls1	UTSW	9	95,655,612 (GRCm39)	missense	probably benign	0.01
R7458:Pls1	UTSW	9	95,667,560 (GRCm39)	missense	probably damaging	1.00
R7467:Pls1	UTSW	9	95,651,166 (GRCm39)	missense	possibly damaging	0.78
R7536:Pls1	UTSW	9	95,644,110 (GRCm39)	missense	probably damaging	1.00
R7553:Pls1	UTSW	9	95,669,140 (GRCm39)	missense	probably damaging	1.00
R7691:Pls1	UTSW	9	95,655,726 (GRCm39)	missense	probably benign	0.21
R7756:Pls1	UTSW	9	95,658,897 (GRCm39)	missense	probably benign	0.44
R7758:Pls1	UTSW	9	95,658,897 (GRCm39)	missense	probably benign	0.44
R7876:Pls1	UTSW	9	95,667,558 (GRCm39)	nonsense	probably null
R8269:Pls1	UTSW	9	95,644,023 (GRCm39)	missense	probably damaging	1.00
R8380:Pls1	UTSW	9	95,657,438 (GRCm39)	missense	probably benign	0.03
R9182:Pls1	UTSW	9	95,658,811 (GRCm39)	missense	probably damaging	1.00
R9256:Pls1	UTSW	9	95,655,696 (GRCm39)	missense	probably damaging	1.00
R9283:Pls1	UTSW	9	95,655,642 (GRCm39)	missense	probably benign	0.43
R9604:Pls1	UTSW	9	95,644,057 (GRCm39)	missense	probably damaging	1.00
Z1177:Pls1	UTSW	9	95,667,671 (GRCm39)	missense	possibly damaging	0.82
Z1177:Pls1	UTSW	9	95,636,440 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAATCACAACGGCAGCTTAGG -3'
(R):5'- CTTGTGGTTGCGTTACAGAC -3'

Sequencing Primer
(F):5'- GCTGGAAGACATTTACTAACGGCATC -3'
(R):5'- ACGTTAGTCCATTTTGTGCGATC -3'

Posted On

2015-04-29