Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01887:Lins1'

179169

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lins1

Ensembl Gene

ENSMUSG00000053091

Gene Name

lines homolog 1

Synonyms

2700083B01Rik, Wins2, Lins

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

IGL01887

Quality Score

Status

Chromosome

Chromosomal Location

66339637-66367004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66360129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 168 (I168T)

Ref Sequence

ENSEMBL: ENSMUSP00000119187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065323] [ENSMUST00000077967] [ENSMUST00000121777] [ENSMUST00000130161] [ENSMUST00000153773] [ENSMUST00000150071] [ENSMUST00000133771] [ENSMUST00000153007]

AlphaFold

Q3U1D0

Predicted Effect

probably benign
Transcript: ENSMUST00000065323

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077967
AA Change: I297T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077117
Gene: ENSMUSG00000053091
AA Change: I297T

Domain	Start	End	E-Value	Type
Pfam:LINES_N	204	554	1.6e-119	PFAM
low complexity region	641	652	N/A	INTRINSIC
low complexity region	684	699	N/A	INTRINSIC
Pfam:LINES_C	717	755	5e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121777
AA Change: I302T

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112404
Gene: ENSMUSG00000053091
AA Change: I302T

Domain	Start	End	E-Value	Type
Pfam:LINES_N	210	558	9.5e-150	PFAM
low complexity region	646	657	N/A	INTRINSIC
low complexity region	689	704	N/A	INTRINSIC
Pfam:LINES_C	723	759	2.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128486

Predicted Effect

probably benign
Transcript: ENSMUST00000130161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132181

Predicted Effect

probably benign
Transcript: ENSMUST00000132351

SMART Domains

Protein: ENSMUSP00000115180
Gene: ENSMUSG00000053091

Domain	Start	End	E-Value	Type
Pfam:LINES_N	155	244	1.1e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153773
AA Change: I168T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119187
Gene: ENSMUSG00000053091
AA Change: I168T

Domain	Start	End	E-Value	Type
Pfam:LINES_N	75	229	1.3e-40	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000133199
AA Change: I83T

SMART Domains

Protein: ENSMUSP00000115124
Gene: ENSMUSG00000053091
AA Change: I83T

Domain	Start	End	E-Value	Type
Pfam:LINES_N	1	220	3.4e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150071

Predicted Effect

probably benign
Transcript: ENSMUST00000133771

Predicted Effect

probably benign
Transcript: ENSMUST00000153007

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	C	A	10: 83,457,386 (GRCm39)		probably benign	Het
Atosa	A	G	9: 74,924,339 (GRCm39)	I861V	probably benign	Het
Faap20	T	C	4: 155,340,657 (GRCm39)	V158A	probably damaging	Het
Filip1	A	T	9: 79,726,899 (GRCm39)	D573E	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Myo5b	A	G	18: 74,848,007 (GRCm39)	R1082G	probably benign	Het
Or5aq1	A	G	2: 86,965,885 (GRCm39)	I260T	possibly damaging	Het
Or8k39	A	G	2: 86,563,030 (GRCm39)	C309R	probably benign	Het
Pomt2	C	T	12: 87,166,363 (GRCm39)	V439I	probably damaging	Het
Rars1	A	T	11: 35,716,822 (GRCm39)	D231E	probably benign	Het
Shisal1	A	G	15: 84,290,851 (GRCm39)	L152P	probably damaging	Het
Slf1	A	T	13: 77,249,101 (GRCm39)	N362K	probably benign	Het
Smad2	T	C	18: 76,432,965 (GRCm39)	V299A	probably damaging	Het
Tead2	T	C	7: 44,881,734 (GRCm39)	V84A	probably damaging	Het
Tnni3k	A	T	3: 154,580,824 (GRCm39)		probably null	Het
Trp63	C	T	16: 25,684,069 (GRCm39)	R319C	probably damaging	Het
Vmn1r203	G	A	13: 22,709,046 (GRCm39)	V276I	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp318	G	T	17: 46,710,094 (GRCm39)	V606L	probably benign	Het

Other mutations in Lins1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Lins1	APN	7	66,364,279 (GRCm39)	nonsense	probably null
IGL01402:Lins1	APN	7	66,363,676 (GRCm39)	missense	probably damaging	0.99
IGL01404:Lins1	APN	7	66,363,676 (GRCm39)	missense	probably damaging	0.99
IGL02887:Lins1	APN	7	66,363,931 (GRCm39)	missense	probably damaging	0.99
R0089:Lins1	UTSW	7	66,361,796 (GRCm39)	unclassified	probably benign
R1473:Lins1	UTSW	7	66,361,794 (GRCm39)	critical splice donor site	probably null
R1556:Lins1	UTSW	7	66,360,385 (GRCm39)	nonsense	probably null
R1580:Lins1	UTSW	7	66,364,239 (GRCm39)	missense	probably benign	0.10
R1794:Lins1	UTSW	7	66,361,657 (GRCm39)	missense	probably damaging	1.00
R1848:Lins1	UTSW	7	66,364,070 (GRCm39)	missense	probably damaging	0.98
R3969:Lins1	UTSW	7	66,357,946 (GRCm39)	missense	probably benign	0.31
R4760:Lins1	UTSW	7	66,364,435 (GRCm39)	unclassified	probably benign
R4766:Lins1	UTSW	7	66,360,389 (GRCm39)	missense	possibly damaging	0.92
R4811:Lins1	UTSW	7	66,357,898 (GRCm39)	missense	probably benign	0.00
R4941:Lins1	UTSW	7	66,359,198 (GRCm39)	splice site	probably benign
R5419:Lins1	UTSW	7	66,357,843 (GRCm39)	unclassified	probably benign
R6140:Lins1	UTSW	7	66,361,672 (GRCm39)	missense	probably damaging	1.00
R6258:Lins1	UTSW	7	66,360,496 (GRCm39)	critical splice donor site	probably null
R6713:Lins1	UTSW	7	66,358,230 (GRCm39)	missense	probably benign	0.00
R6787:Lins1	UTSW	7	66,363,902 (GRCm39)	missense	probably benign	0.32
R7176:Lins1	UTSW	7	66,363,553 (GRCm39)	missense	probably benign	0.10
R7455:Lins1	UTSW	7	66,361,692 (GRCm39)	missense	probably benign	0.14
R7761:Lins1	UTSW	7	66,363,853 (GRCm39)	nonsense	probably null
R9020:Lins1	UTSW	7	66,357,961 (GRCm39)	missense	probably damaging	1.00
R9509:Lins1	UTSW	7	66,358,119 (GRCm39)	nonsense	probably null
Z1176:Lins1	UTSW	7	66,360,012 (GRCm39)	missense	possibly damaging	0.54

Posted On

2014-05-07