Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01873:Lime1'

178788

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lime1

Ensembl Gene

ENSMUSG00000090077

Gene Name

Lck interacting transmembrane adaptor 1

Synonyms

2810038K19Rik, LIME

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01873

Quality Score

Status

Chromosome

Chromosomal Location

181023028-181025421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181024667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 107 (V107A)

Ref Sequence

ENSEMBL: ENSMUSP00000045010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029105] [ENSMUST00000029106] [ENSMUST00000048077] [ENSMUST00000108804] [ENSMUST00000108807] [ENSMUST00000116366]

AlphaFold

Q9EQR5

Predicted Effect

probably benign
Transcript: ENSMUST00000029105

SMART Domains

Protein: ENSMUSP00000029105
Gene: ENSMUSG00000027582

Domain	Start	End	E-Value	Type
low complexity region	53	64	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
ZnF_C3H1	174	199	5.99e-4	SMART
SCOP:d1g5va_	218	268	2e-3	SMART
low complexity region	270	287	N/A	INTRINSIC
G_patch	311	357	1.34e-9	SMART
low complexity region	379	392	N/A	INTRINSIC
coiled coil region	431	505	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000029106

SMART Domains

Protein: ENSMUSP00000029106
Gene: ENSMUSG00000027583

Domain	Start	End	E-Value	Type
BTB	31	129	2.89e-21	SMART
ZnF_C2H2	418	440	4.72e-2	SMART
ZnF_C2H2	446	468	4.24e-4	SMART
ZnF_C2H2	474	498	1.31e2	SMART
low complexity region	543	557	N/A	INTRINSIC
low complexity region	568	580	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048077
AA Change: V107A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000045010
Gene: ENSMUSG00000090077
AA Change: V107A

Domain	Start	End	E-Value	Type
Pfam:LIME1	27	266	5.6e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108804

SMART Domains

Protein: ENSMUSP00000104432
Gene: ENSMUSG00000090077

Domain	Start	End	E-Value	Type
Pfam:LIME1	27	87	9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108807

SMART Domains

Protein: ENSMUSP00000104435
Gene: ENSMUSG00000027582

Domain	Start	End	E-Value	Type
low complexity region	53	64	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
ZnF_C3H1	174	199	5.99e-4	SMART
SCOP:d1g5va_	218	268	2e-3	SMART
low complexity region	270	287	N/A	INTRINSIC
G_patch	311	357	1.34e-9	SMART
low complexity region	379	392	N/A	INTRINSIC
coiled coil region	431	505	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116366

SMART Domains

Protein: ENSMUSP00000112067
Gene: ENSMUSG00000027582

Domain	Start	End	E-Value	Type
low complexity region	53	64	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
ZnF_C3H1	174	199	5.99e-4	SMART
SCOP:d1g5va_	218	268	2e-3	SMART
low complexity region	270	287	N/A	INTRINSIC
G_patch	311	357	1.34e-9	SMART
low complexity region	379	392	N/A	INTRINSIC
coiled coil region	431	505	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000126611
AA Change: V86A

SMART Domains

Protein: ENSMUSP00000119181
Gene: ENSMUSG00000090077
AA Change: V86A

Domain	Start	End	E-Value	Type
Pfam:LIME1	4	246	9.6e-111	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000140943
AA Change: V108A

SMART Domains

Protein: ENSMUSP00000117558
Gene: ENSMUSG00000090077
AA Change: V108A

Domain	Start	End	E-Value	Type
Pfam:LIME1	24	189	5.4e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126733

Predicted Effect

probably benign
Transcript: ENSMUST00000156258

SMART Domains

Protein: ENSMUSP00000122714
Gene: ENSMUSG00000027582

Domain	Start	End	E-Value	Type
G_patch	1	44	1.18e-5	SMART
low complexity region	66	79	N/A	INTRINSIC
coiled coil region	117	148	N/A	INTRINSIC

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 transmembrane adaptor protein that links the T and B-cell receptor stimulation to downstream signaling pathways via its association with the Src family kinases Lck and Lyn, respectively. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit no detectable abnormalities in the development and function of B and T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chd9	A	G	8: 91,660,395 (GRCm39)	T452A	probably benign	Het
Coq8a	T	A	1: 180,006,542 (GRCm39)	Q115L	probably damaging	Het
Cul9	T	C	17: 46,813,378 (GRCm39)	E2326G	probably damaging	Het
Cyp2c69	A	G	19: 39,869,693 (GRCm39)		probably benign	Het
Dennd5b	A	T	6: 148,946,027 (GRCm39)	M528K	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Gm6665	T	C	18: 31,953,355 (GRCm39)	S38G	probably damaging	Het
Gsg1l	A	G	7: 125,557,615 (GRCm39)	V171A	probably damaging	Het
Ighv5-2	A	T	12: 113,542,350 (GRCm39)	S42T	probably benign	Het
Itch	C	T	2: 155,010,670 (GRCm39)	T46I	possibly damaging	Het
Itsn2	T	G	12: 4,682,366 (GRCm39)		probably benign	Het
Mertk	T	C	2: 128,571,195 (GRCm39)	S50P	possibly damaging	Het
Myo5b	T	A	18: 74,713,467 (GRCm39)	V104E	probably damaging	Het
Nckap1	A	T	2: 80,383,729 (GRCm39)	I145K	possibly damaging	Het
Ppp4r3a	A	T	12: 101,008,094 (GRCm39)	I794N	possibly damaging	Het
Psapl1	C	A	5: 36,362,569 (GRCm39)	P387Q	possibly damaging	Het
Ripk1	T	A	13: 34,193,707 (GRCm39)	L23Q	probably damaging	Het
Srrm4	G	T	5: 116,729,527 (GRCm39)		probably benign	Het
St6galnac1	T	A	11: 116,657,437 (GRCm39)	T376S	probably damaging	Het
Tmem74	T	C	15: 43,730,782 (GRCm39)	D87G	probably benign	Het
Trav19	A	G	14: 54,083,173 (GRCm39)	R83G	probably benign	Het
Tubgcp4	T	C	2: 121,018,665 (GRCm39)		probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfat	T	C	15: 68,096,744 (GRCm39)	N23S	probably benign	Het

Other mutations in Lime1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1549:Lime1	UTSW	2	181,025,169 (GRCm39)	missense	probably benign	0.08
R1782:Lime1	UTSW	2	181,024,849 (GRCm39)	missense	possibly damaging	0.95
R5225:Lime1	UTSW	2	181,024,640 (GRCm39)	missense	probably benign
R7468:Lime1	UTSW	2	181,025,135 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07