Mutagenetix > Incidental Mutation

Incidental Mutation 'R8733:Lima1'

662885

Institutional Source

Beutler Lab

Gene Symbol

Lima1

Ensembl Gene

ENSMUSG00000023022

Gene Name

LIM domain and actin binding 1

Synonyms

3526402A12Rik, EPLIN, epithelial protein lost in neoplasm, 1110021C24Rik

MMRRC Submission

068581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R8733 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99676351-99773292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99678699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 581 (S581P)

Ref Sequence

ENSEMBL: ENSMUSP00000073371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073691] [ENSMUST00000109024]

AlphaFold

Q9ERG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000073691
AA Change: S581P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073371
Gene: ENSMUSG00000023022
AA Change: S581P

Domain	Start	End	E-Value	Type
LIM	387	439	5.14e-17	SMART
low complexity region	534	546	N/A	INTRINSIC
low complexity region	570	587	N/A	INTRINSIC
low complexity region	598	609	N/A	INTRINSIC
low complexity region	613	626	N/A	INTRINSIC
low complexity region	747	753	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109024
AA Change: S421P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104652
Gene: ENSMUSG00000023022
AA Change: S421P

Domain	Start	End	E-Value	Type
LIM	227	279	5.14e-17	SMART
low complexity region	374	386	N/A	INTRINSIC
low complexity region	410	427	N/A	INTRINSIC
low complexity region	438	449	N/A	INTRINSIC
low complexity region	453	466	N/A	INTRINSIC
low complexity region	587	593	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,249,627 (GRCm39)	L1106P	probably damaging	Het
Alx3	C	G	3: 107,512,135 (GRCm39)	P258A	probably damaging	Het
Bbs9	A	G	9: 22,582,128 (GRCm39)	T607A	probably benign	Het
Catsperg1	A	T	7: 28,891,111 (GRCm39)	V644E	possibly damaging	Het
Cep85	T	C	4: 133,875,472 (GRCm39)	K499E	possibly damaging	Het
Chd5	A	T	4: 152,463,923 (GRCm39)	H1464L	probably damaging	Het
Chrne	A	G	11: 70,507,856 (GRCm39)	L281P	probably damaging	Het
Col3a1	A	G	1: 45,379,472 (GRCm39)		probably benign	Het
Cpsf4l	A	G	11: 113,600,279 (GRCm39)	F13L	possibly damaging	Het
Dgcr8	T	C	16: 18,077,825 (GRCm39)	I603V	probably benign	Het
Dhx16	A	G	17: 36,192,267 (GRCm39)	D102G	probably benign	Het
Dnm1	G	T	2: 32,206,987 (GRCm39)	D564E	probably benign	Het
Dync1li1	T	A	9: 114,534,178 (GRCm39)	Y93N	probably damaging	Het
Esp31	A	G	17: 38,955,509 (GRCm39)	I51V	probably benign	Het
Grap	G	T	11: 61,562,517 (GRCm39)	A163S	possibly damaging	Het
Hgs	G	A	11: 120,360,954 (GRCm39)		probably null	Het
Icosl	A	T	10: 77,909,697 (GRCm39)	N214I	probably damaging	Het
Ints6	G	A	14: 62,934,297 (GRCm39)	P737S	probably benign	Het
Irag1	C	T	7: 110,477,425 (GRCm39)	V564M	probably benign	Het
Lrfn2	G	A	17: 49,403,824 (GRCm39)	R649H	probably damaging	Het
Muc5b	A	G	7: 141,417,532 (GRCm39)	T3493A	possibly damaging	Het
Mup4	A	T	4: 59,958,587 (GRCm39)	N104K	probably damaging	Het
Nedd4	T	C	9: 72,633,766 (GRCm39)	V424A	possibly damaging	Het
Or10ag55-ps1	A	T	2: 87,115,116 (GRCm39)	I161F	probably benign	Het
Or6c88	T	A	10: 129,406,579 (GRCm39)	D18E	possibly damaging	Het
Or8d23	A	G	9: 38,841,985 (GRCm39)	I173V	probably benign	Het
Otop1	G	A	5: 38,457,117 (GRCm39)	R292H	probably damaging	Het
Otop1	T	A	5: 38,457,796 (GRCm39)	C518*	probably null	Het
Parp3	C	T	9: 106,353,150 (GRCm39)	V9M	probably benign	Het
Pcdhb20	C	T	18: 37,638,437 (GRCm39)	A321V	probably damaging	Het
Pik3c2g	C	T	6: 139,714,426 (GRCm39)	Q311*	probably null	Het
Pkd1l1	A	T	11: 8,883,657 (GRCm39)	V855D		Het
Polr2k	T	A	15: 36,176,913 (GRCm39)	D97E	probably benign	Het
Psmd11	A	G	11: 80,325,342 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,266,683 (GRCm39)	T631M	probably damaging	Het
Ralgps1	C	A	2: 33,174,836 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,024,211 (GRCm39)	S17P	probably damaging	Het
Rcc1	C	A	4: 132,065,515 (GRCm39)	L49F	probably benign	Het
Rgma	T	C	7: 73,059,036 (GRCm39)	S63P	possibly damaging	Het
Scn1a	T	A	2: 66,154,944 (GRCm39)	I672L	probably benign	Het
Sema4c	T	C	1: 36,591,954 (GRCm39)	T270A	probably damaging	Het
Serac1	A	G	17: 6,100,303 (GRCm39)	L479P	probably damaging	Het
Slc22a16	A	G	10: 40,450,061 (GRCm39)	M187V	probably benign	Het
Slc41a3	A	T	6: 90,610,710 (GRCm39)	T191S	possibly damaging	Het
Slu7	G	A	11: 43,334,167 (GRCm39)	V398M	probably damaging	Het
Sphk1	A	G	11: 116,426,451 (GRCm39)	T136A	probably benign	Het
Sqstm1	G	T	11: 50,101,493 (GRCm39)	P31Q	possibly damaging	Het
Trappc11	A	T	8: 47,954,883 (GRCm39)	V885D	probably damaging	Het
Trav6-1	T	A	14: 52,876,213 (GRCm39)	Y44*	probably null	Het
Trav9-2	T	A	14: 53,828,755 (GRCm39)	C42S	probably damaging	Het
Zc2hc1a	A	G	3: 7,593,168 (GRCm39)	T194A	probably benign	Het
Zfp729a	A	G	13: 67,769,104 (GRCm39)	V375A	probably damaging	Het

Other mutations in Lima1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00668:Lima1	APN	15	99,700,038 (GRCm39)	missense	possibly damaging	0.47
IGL01104:Lima1	APN	15	99,741,581 (GRCm39)	missense	probably damaging	1.00
IGL02618:Lima1	APN	15	99,700,097 (GRCm39)	splice site	probably benign
IGL03124:Lima1	APN	15	99,694,615 (GRCm39)	splice site	probably benign
R0312:Lima1	UTSW	15	99,678,968 (GRCm39)	missense	possibly damaging	0.69
R0599:Lima1	UTSW	15	99,700,040 (GRCm39)	missense	probably damaging	1.00
R0601:Lima1	UTSW	15	99,678,353 (GRCm39)	missense	probably damaging	0.98
R1423:Lima1	UTSW	15	99,717,626 (GRCm39)	nonsense	probably null
R1704:Lima1	UTSW	15	99,717,617 (GRCm39)	missense	probably benign	0.00
R1784:Lima1	UTSW	15	99,678,344 (GRCm39)	missense	possibly damaging	0.93
R1819:Lima1	UTSW	15	99,717,817 (GRCm39)	missense	probably benign	0.01
R1968:Lima1	UTSW	15	99,717,565 (GRCm39)	missense	probably benign
R2352:Lima1	UTSW	15	99,692,396 (GRCm39)	missense	probably benign	0.02
R2908:Lima1	UTSW	15	99,699,991 (GRCm39)	critical splice donor site	probably null
R4582:Lima1	UTSW	15	99,678,873 (GRCm39)	missense	possibly damaging	0.65
R4672:Lima1	UTSW	15	99,741,590 (GRCm39)	missense	probably damaging	1.00
R4858:Lima1	UTSW	15	99,717,457 (GRCm39)	missense	probably benign	0.23
R6140:Lima1	UTSW	15	99,678,939 (GRCm39)	missense	probably damaging	1.00
R6614:Lima1	UTSW	15	99,681,461 (GRCm39)	missense	probably damaging	1.00
R6898:Lima1	UTSW	15	99,679,148 (GRCm39)	missense	possibly damaging	0.61
R7598:Lima1	UTSW	15	99,717,577 (GRCm39)	missense	probably benign	0.01
R7601:Lima1	UTSW	15	99,717,577 (GRCm39)	missense	probably benign	0.01
R7878:Lima1	UTSW	15	99,717,431 (GRCm39)	missense	probably benign	0.12
R8219:Lima1	UTSW	15	99,678,671 (GRCm39)	missense	probably damaging	1.00
R8348:Lima1	UTSW	15	99,678,753 (GRCm39)	missense	probably benign	0.00
R8821:Lima1	UTSW	15	99,704,306 (GRCm39)	missense	probably benign	0.00
R9285:Lima1	UTSW	15	99,678,687 (GRCm39)	missense	probably damaging	1.00
R9300:Lima1	UTSW	15	99,704,320 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAGGGTCTGGCATTTTCC -3'
(R):5'- AAGCCAAGGCCTCTTCTCAG -3'

Sequencing Primer
(F):5'- AGGGTCTGGCATTTTCCGTTTG -3'
(R):5'- GATAAGCCTGCGGAGACC -3'

Posted On

2021-03-08