Mutagenetix > Incidental Mutation

Incidental Mutation 'R7016:Pls1'

545317

Institutional Source

Beutler Lab

Gene Symbol

Pls1

Ensembl Gene

ENSMUSG00000049493

Gene Name

plastin 1 (I-isoform)

Synonyms

I-fimbrin

MMRRC Submission

045117-MU

Accession Numbers

Essential gene?

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

Stock #

R7016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95634695-95727359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95668994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 76 (F76I)

Ref Sequence

ENSEMBL: ENSMUSP00000113200 (fasta)

Gene Model

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

AlphaFold

Q3V0K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000093800
AA Change: F76I

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

SMART Domains

Protein: ENSMUSP00000091317
Gene: ENSMUSG00000049493
AA Change: F76I

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 damaging
Transcript: ENSMUST00000119760
AA Change: F76I

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

SMART Domains

Protein: ENSMUSP00000113200
Gene: ENSMUSG00000049493
AA Change: F76I

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

Meta Mutation Damage Score

0.9553

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,986,843 (GRCm39)	V754D	probably benign	Het
Actn1	T	A	12: 80,219,742 (GRCm39)	M710L	possibly damaging	Het
Adam1a	A	G	5: 121,659,101 (GRCm39)	F64S	probably benign	Het
Aip	G	T	19: 4,171,402 (GRCm39)	D11E	probably benign	Het
Ak7	T	A	12: 105,747,938 (GRCm39)	Y714*	probably null	Het
Amhr2	A	G	15: 102,362,799 (GRCm39)	E522G	possibly damaging	Het
Amotl1	A	G	9: 14,504,995 (GRCm39)	L108P	probably damaging	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Asph	T	C	4: 9,630,604 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,895,185 (GRCm39)	S908P	probably benign	Het
Atp13a3	C	A	16: 30,157,308 (GRCm39)	V903L	possibly damaging	Het
Bcam	G	A	7: 19,492,368 (GRCm39)	R576*	probably null	Het
Btbd2	A	G	10: 80,484,449 (GRCm39)	S141P	probably damaging	Het
Cacna1b	T	C	2: 24,652,860 (GRCm39)	N67S	possibly damaging	Het
Cc2d2b	A	G	19: 40,784,248 (GRCm39)	T872A	possibly damaging	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Cep44	A	T	8: 56,997,234 (GRCm39)	F101L	possibly damaging	Het
Cfap410	T	A	10: 77,818,790 (GRCm39)	C154S	probably benign	Het
Cimap1d	T	C	10: 79,475,790 (GRCm39)	Y258C	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnajc21	G	T	15: 10,461,493 (GRCm39)	Y152*	probably null	Het
Edem2	A	G	2: 155,557,992 (GRCm39)	F214L	possibly damaging	Het
Fam118b	G	A	9: 35,135,014 (GRCm39)	R198W	probably damaging	Het
Fgb	A	G	3: 82,953,371 (GRCm39)	V133A	probably benign	Het
Fsip2	A	G	2: 82,820,979 (GRCm39)	T5571A	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hnf4a	T	A	2: 163,406,193 (GRCm39)	Y277N	probably damaging	Het
Htatip2	A	G	7: 49,420,583 (GRCm39)	D143G	possibly damaging	Het
Itgae	A	G	11: 73,010,342 (GRCm39)	N611D	probably damaging	Het
Ksr1	A	T	11: 78,918,362 (GRCm39)	N515K	probably damaging	Het
Lrp1	C	A	10: 127,395,836 (GRCm39)		probably null	Het
Map3k20	T	A	2: 72,208,979 (GRCm39)	V195D	probably damaging	Het
Meox2	A	G	12: 37,159,223 (GRCm39)	S132G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nell2	T	A	15: 95,127,032 (GRCm39)	N781I	possibly damaging	Het
Or12d16-ps1	G	A	17: 37,706,094 (GRCm39)	G221D	possibly damaging	Het
Or13a22	A	G	7: 140,073,153 (GRCm39)	T201A	probably benign	Het
Or51m1	A	G	7: 103,578,737 (GRCm39)	I236V	probably benign	Het
Or5e1	A	G	7: 108,354,918 (GRCm39)	N285S	probably damaging	Het
Otoa	A	T	7: 120,746,989 (GRCm39)	Q918L	probably damaging	Het
Palld	T	G	8: 61,969,032 (GRCm39)	K1022T	probably damaging	Het
Parp8	A	T	13: 117,031,627 (GRCm39)	S362T	probably damaging	Het
Phrf1	A	G	7: 140,817,476 (GRCm39)	E95G	probably damaging	Het
Pnp	T	A	14: 51,187,706 (GRCm39)		probably null	Het
Ptdss1	A	C	13: 67,120,685 (GRCm39)	M294L	probably benign	Het
Rictor	T	A	15: 6,804,361 (GRCm39)		probably null	Het
Rilp	A	G	11: 75,401,745 (GRCm39)	E175G	probably damaging	Het
Serpina16	T	A	12: 103,641,630 (GRCm39)	T32S	probably benign	Het
Sim1	C	T	10: 50,860,346 (GRCm39)	S736L	probably benign	Het
Smarcc2	T	G	10: 128,321,198 (GRCm39)		probably null	Het
Smtn	A	G	11: 3,480,368 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,426,098 (GRCm39)	W98R	probably damaging	Het
St8sia3	A	T	18: 64,402,654 (GRCm39)	I98F	probably benign	Het
Taf10	A	T	7: 105,393,205 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,626,857 (GRCm39)	V1031E	possibly damaging	Het
Tbc1d4	T	A	14: 101,724,877 (GRCm39)	N580I	probably damaging	Het
Trim12c	A	T	7: 103,997,413 (GRCm39)	C48S		Het
Tsc22d1	C	A	14: 76,654,982 (GRCm39)	T405K	probably damaging	Het
Tubgcp5	A	G	7: 55,443,977 (GRCm39)	D2G	possibly damaging	Het
Wwc2	T	C	8: 48,300,583 (GRCm39)	E960G	unknown	Het
Yme1l1	T	A	2: 23,076,367 (GRCm39)		probably null	Het
Zbtb2	G	C	10: 4,318,646 (GRCm39)	P460R	probably damaging	Het
Zfp62	T	G	11: 49,106,764 (GRCm39)	I285S	probably damaging	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
R3964:Pls1	UTSW	9	95,667,665 (GRCm39)	missense	probably benign	0.00
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
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'- GTACAGTTATTCTAGGGCCTGAATG -3'
(R):5'- GCCTTGCCTTCATTTGACAG -3'

Sequencing Primer
(F):5'- AGGGCCTGAATGATTGTTATCTGAAC -3'
(R):5'- GCCTTCATTTGACAGTTTACCATG -3'

Posted On

2019-05-13