Mutagenetix > Incidental Mutations

Incidental Mutation 'R4992:Lims1'

386273

Institutional Source

Beutler Lab

Gene Symbol

Lims1

Ensembl Gene

ENSMUSG00000019920

Gene Name

LIM and senescent cell antigen-like domains 1

Synonyms

4921524A02Rik, PINCH1, C430041B13Rik, Lims1l, 2310016J22Rik

MMRRC Submission

042586-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4992 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58323466-58424691 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 58410241 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020077] [ENSMUST00000020078] [ENSMUST00000105468]

Predicted Effect

probably benign
Transcript: ENSMUST00000020077

SMART Domains

Protein: ENSMUSP00000020077
Gene: ENSMUSG00000019920

Domain	Start	End	E-Value	Type
LIM	71	124	3.78e-15	SMART
LIM	132	183	5.35e-15	SMART
LIM	196	246	1.01e-10	SMART
LIM	254	305	2.84e-19	SMART
LIM	313	365	3.84e-16	SMART
low complexity region	371	387	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000020078

SMART Domains

Protein: ENSMUSP00000020078
Gene: ENSMUSG00000019920

Domain	Start	End	E-Value	Type
LIM	21	74	3.78e-15	SMART
LIM	82	133	5.35e-15	SMART
LIM	146	196	1.01e-10	SMART
LIM	204	255	2.84e-19	SMART
LIM	263	315	5.51e-17	SMART
low complexity region	317	334	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105468

SMART Domains

Protein: ENSMUSP00000101108
Gene: ENSMUSG00000019920

Domain	Start	End	E-Value	Type
LIM	71	124	3.78e-15	SMART
LIM	132	183	5.35e-15	SMART
LIM	196	246	1.01e-10	SMART
LIM	254	305	2.84e-19	SMART
LIM	313	365	5.51e-17	SMART
low complexity region	367	384	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124312

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (84/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice die shortly after implantation and have a disorganized egg cylinder by E5.5, which is degenerated by E6.5. E5.5 null embryos exhibit decreased cell proliferation and excessive cell death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 82,064,002	R700Q	possibly damaging	Het
4930444P10Rik	T	A	1: 16,080,877	E27V	probably damaging	Het
Acsm4	T	A	7: 119,711,417	I509N	probably benign	Het
Asb18	T	C	1: 89,952,863	M143V	probably benign	Het
Birc6	A	G	17: 74,689,256	D4475G	probably benign	Het
Bsn	A	T	9: 108,115,548	S1002T	probably damaging	Het
Bub3	T	C	7: 131,560,806	S33P	probably damaging	Het
Ccna1	T	A	3: 55,049,890	R35S	probably damaging	Het
Cdc23	T	A	18: 34,646,919	M119L	probably benign	Het
Ces1a	A	G	8: 93,045,022	V49A	probably benign	Het
Chil1	A	T	1: 134,188,626	E282D	probably benign	Het
Crocc	G	A	4: 141,046,666	A220V	probably damaging	Het
Cstf1	A	G	2: 172,377,800	Y277C	probably damaging	Het
D930020B18Rik	C	G	10: 121,654,761	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,654,762	P89L	probably damaging	Het
Dennd5a	A	G	7: 109,894,712	S1262P	probably damaging	Het
Dnajb5	G	A	4: 42,953,386		probably null	Het
E330034G19Rik	A	G	14: 24,306,996	K200R	unknown	Het
Ect2l	A	G	10: 18,172,729	F156S	probably benign	Het
Egf	T	C	3: 129,711,530		probably null	Het
Elmo1	T	C	13: 20,342,519	F413S	probably damaging	Het
Elmo3	T	A	8: 105,309,501	Y607*	probably null	Het
Eno3	A	G	11: 70,658,647	D98G	probably damaging	Het
Ephb2	A	G	4: 136,660,839	V651A	probably damaging	Het
Fbp1	C	T	13: 62,865,074	V102I	probably benign	Het
Gcn1l1	T	C	5: 115,599,166	V1321A	probably benign	Het
Gimd1	A	T	3: 132,634,957	Y78F	probably benign	Het
Glmn	T	G	5: 107,557,301	D483A	probably damaging	Het
Gsr	C	T	8: 33,693,913	T401I	probably damaging	Het
Htr3b	G	A	9: 48,959,218	H62Y	possibly damaging	Het
Ifna6	T	C	4: 88,827,540	V42A	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Inpp4b	A	T	8: 82,033,208	R627S	probably damaging	Het
Kif13a	C	T	13: 46,777,163	V142M	probably damaging	Het
Ltn1	T	C	16: 87,405,587	T1059A	possibly damaging	Het
Lyst	T	C	13: 13,661,163	L1810P	probably damaging	Het
Mboat1	T	G	13: 30,202,360	I119R	possibly damaging	Het
Mgat3	T	A	15: 80,212,542	D523E	probably benign	Het
Mphosph9	T	C	5: 124,304,190	E395G	probably damaging	Het
Mtcl1	G	T	17: 66,342,839	P1877Q	probably damaging	Het
Myo6	T	C	9: 80,283,510	V781A	possibly damaging	Het
Ncoa3	T	A	2: 166,069,939	M1395K	probably benign	Het
Nhlrc2	T	A	19: 56,570,534	D150E	probably benign	Het
Nlrp9a	T	C	7: 26,557,386	V54A	probably benign	Het
Olfr392	G	A	11: 73,814,320	T254I	probably damaging	Het
Olfr411	A	G	11: 74,347,197	I129T	probably damaging	Het
Parp14	A	T	16: 35,841,142	C1479S	probably benign	Het
Pdcd1lg2	T	C	19: 29,446,084	V176A	probably damaging	Het
Pibf1	T	A	14: 99,150,667	N416K	probably damaging	Het
Polb	A	T	8: 22,645,071	V115E	probably damaging	Het
Polq	T	A	16: 37,061,162	N1229K	possibly damaging	Het
Ppp1r21	A	T	17: 88,569,080	D440V	probably benign	Het
Ppp2ca	T	A	11: 52,113,206	H63Q	possibly damaging	Het
Prl7a1	C	T	13: 27,635,686		probably null	Het
Rgs1	C	A	1: 144,246,322	K77N	probably damaging	Het
Rnf112	T	A	11: 61,452,711	I100F	possibly damaging	Het
Rnf139	G	T	15: 58,898,476	E117*	probably null	Het
Robo1	G	A	16: 72,979,868	V743I	probably damaging	Het
Scarf1	T	C	11: 75,522,230	L434P	probably damaging	Het
Scarf1	T	C	11: 75,526,015	V761A	probably benign	Het
Sgsm1	A	T	5: 113,282,620	S300T	possibly damaging	Het
Slc26a7	T	G	4: 14,565,508	T192P	probably damaging	Het
Smarcc2	A	G	10: 128,474,710	K403E	probably damaging	Het
Snai3	G	A	8: 122,456,332	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,703,151	N388D	probably benign	Het
Sptlc3	G	A	2: 139,596,003	V406I	probably benign	Het
Tgds	A	C	14: 118,117,763	Y197D	probably damaging	Het
Tll1	G	T	8: 64,093,944	R323S	probably damaging	Het
Tmem55b	A	G	14: 50,929,233	V179A	probably damaging	Het
Trim14	A	G	4: 46,507,110	Y369H	probably damaging	Het
Ube2nl	C	T	7: 61,549,364		noncoding transcript	Het
Ube3a	T	A	7: 59,284,820	D560E	possibly damaging	Het
Vmn2r10	A	G	5: 108,997,726	V505A	possibly damaging	Het
Vmn2r114	T	G	17: 23,291,791	I572L	probably benign	Het
Vmn2r26	A	T	6: 124,026,111	Q160L	probably benign	Het
Vmn2r75	A	C	7: 86,166,167		probably null	Het
Vps8	A	G	16: 21,461,408	K336E	possibly damaging	Het
Zfp324	T	C	7: 12,969,373	S32P	probably benign	Het
Zfp366	T	C	13: 99,229,495	I388T	possibly damaging	Het
Zfp68	A	T	5: 138,607,337	N203K	possibly damaging	Het
Zhx2	A	T	15: 57,823,587	N784I	probably damaging	Het

Other mutations in Lims1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P0027:Lims1	UTSW	10	58418455	missense	probably benign	0.00
R4271:Lims1	UTSW	10	58410204	critical splice donor site	probably null
R4528:Lims1	UTSW	10	58410060	missense	probably damaging	1.00
R4546:Lims1	UTSW	10	58418790	intron	probably benign
R5380:Lims1	UTSW	10	58416670	missense	probably damaging	0.99
R6207:Lims1	UTSW	10	58394564	missense	possibly damaging	0.76
R6543:Lims1	UTSW	10	58412451	nonsense	probably null
R6684:Lims1	UTSW	10	58399013	splice site	probably null
R6762:Lims1	UTSW	10	58412545	missense	probably damaging	1.00
R7373:Lims1	UTSW	10	58409620	missense	probably damaging	1.00
R7434:Lims1	UTSW	10	58394479	missense	probably benign
R7597:Lims1	UTSW	10	58412441	missense	probably damaging	0.99
T0722:Lims1	UTSW	10	58418455	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCGCCCATGTCATAATCGTG -3'
(R):5'- ACCTGATTTGGTGATGTTCCGC -3'

Sequencing Primer
(F):5'- TCGCCCATGTCATAATCGTGAAAAAG -3'
(R):5'- CCTTCTTCTAACACGAAAAGTTGGGG -3'

Posted On

2016-05-10