Mutagenetix > Incidental Mutation

Incidental Mutation 'R2330:Lin7b'

245836

Institutional Source

Beutler Lab

Gene Symbol

Lin7b

Ensembl Gene

ENSMUSG00000003872

Gene Name

lin-7 homolog B, crumbs cell polarity complex component

Synonyms

Veli2, LIN-7B, MALS-2

MMRRC Submission

040321-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.498) question?

Stock #

R2330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45017315-45019988 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 45019337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000003971] [ENSMUST00000210865] [ENSMUST00000211067]

AlphaFold

O88951

PDB Structure

Solution Structure of mLin-2/mLin-7 L27 Domain Complex [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000003961

SMART Domains

Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863

Domain	Start	End	E-Value	Type
coiled coil region	27	129	N/A	INTRINSIC
coiled coil region	167	426	N/A	INTRINSIC
coiled coil region	448	500	N/A	INTRINSIC
low complexity region	534	550	N/A	INTRINSIC
coiled coil region	597	642	N/A	INTRINSIC
low complexity region	651	672	N/A	INTRINSIC
low complexity region	707	719	N/A	INTRINSIC
SAM	835	904	1.46e-10	SMART
SAM	950	1017	8.22e-5	SMART
SAM	1038	1110	3.58e-5	SMART
low complexity region	1156	1169	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000003971

SMART Domains

Protein: ENSMUSP00000003971
Gene: ENSMUSG00000003872

Domain	Start	End	E-Value	Type
L27	13	68	1.96e-12	SMART
low complexity region	71	84	N/A	INTRINSIC
PDZ	101	175	6.16e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000058665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210586

Predicted Effect

probably benign
Transcript: ENSMUST00000210865

Predicted Effect

probably benign
Transcript: ENSMUST00000211067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210360

Meta Mutation Damage Score

0.9577

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (31/31)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp9a	A	G	2: 168,481,849 (GRCm39)	S958P	probably benign	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Clasp2	T	C	9: 113,705,372 (GRCm39)	V594A	probably damaging	Het
Col12a1	A	G	9: 79,540,939 (GRCm39)	I2396T	probably damaging	Het
Col1a2	T	A	6: 4,528,300 (GRCm39)		probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dnaja3	T	A	16: 4,507,880 (GRCm39)	D127E	probably benign	Het
Etnppl	T	C	3: 130,424,224 (GRCm39)	L332P	probably damaging	Het
Gm4559	A	T	7: 141,827,833 (GRCm39)	C90S	unknown	Het
Gramd1c	T	C	16: 43,803,566 (GRCm39)	N616D	probably benign	Het
Hmcn1	A	G	1: 150,528,429 (GRCm39)		probably benign	Het
Hydin	C	A	8: 111,291,641 (GRCm39)	Q3378K	probably benign	Het
Mex3c	G	A	18: 73,706,799 (GRCm39)	V229I	probably damaging	Het
Micall2	C	G	5: 139,703,270 (GRCm39)	G189R	probably damaging	Het
Ncam2	A	G	16: 81,309,809 (GRCm39)	H433R	probably benign	Het
Or2t45	A	T	11: 58,669,825 (GRCm39)	S291C	probably damaging	Het
Or4c12	T	C	2: 89,774,297 (GRCm39)	N54S	probably benign	Het
Or6c5	C	T	10: 129,074,908 (GRCm39)	Q297*	probably null	Het
Pml	A	T	9: 58,141,854 (GRCm39)	V326E	probably damaging	Het
Prl2c5	T	A	13: 13,366,378 (GRCm39)	M219K	possibly damaging	Het
Rfc1	A	T	5: 65,470,312 (GRCm39)	I65N	possibly damaging	Het
Rsbn1	T	C	3: 103,821,816 (GRCm39)	L17P	probably damaging	Het
Serpina3m	A	G	12: 104,357,963 (GRCm39)	K296E	possibly damaging	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Spag6l	T	C	16: 16,646,949 (GRCm39)	Q19R	probably benign	Het
Tgm6	A	C	2: 129,985,162 (GRCm39)	D344A	probably damaging	Het
Zfp7	T	C	15: 76,775,509 (GRCm39)	I517T	probably damaging	Het
Zfp831	T	A	2: 174,489,882 (GRCm39)	Y1216*	probably null	Het

Other mutations in Lin7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Lin7b	APN	7	45,018,624 (GRCm39)	missense	probably damaging	1.00
R0539:Lin7b	UTSW	7	45,019,326 (GRCm39)	unclassified	probably benign
R1730:Lin7b	UTSW	7	45,019,351 (GRCm39)	missense	probably benign
R1783:Lin7b	UTSW	7	45,019,351 (GRCm39)	missense	probably benign
R2920:Lin7b	UTSW	7	45,017,821 (GRCm39)	missense	possibly damaging	0.48
R5646:Lin7b	UTSW	7	45,018,617 (GRCm39)	missense	probably damaging	0.96
R7155:Lin7b	UTSW	7	45,019,651 (GRCm39)	missense	probably damaging	0.99
R7487:Lin7b	UTSW	7	45,019,364 (GRCm39)	missense	possibly damaging	0.81
R7576:Lin7b	UTSW	7	45,018,649 (GRCm39)	nonsense	probably null
R7603:Lin7b	UTSW	7	45,017,856 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTTAGGGTCATCTTACCGACAG -3'
(R):5'- CGAGGTGAGCATCTTGGTTC -3'

Sequencing Primer
(F):5'- CTTACCGACAGGAAAGTGAGGC -3'
(R):5'- ATAAGTTGTAGTTTCCTTGCACTCTG -3'

Posted On

2014-10-30