Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03190:Lin52'

412618

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lin52

Ensembl Gene

ENSMUSG00000085793

Gene Name

lin-52 DREAM MuvB core complex component

Synonyms

5830457H20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

IGL03190

Quality Score

Status

Chromosome

Chromosomal Location

84498196-84592919 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84504732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 39 (V39A)

Ref Sequence

ENSEMBL: ENSMUSP00000133045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000137170]

AlphaFold

Q8CD94

Predicted Effect

probably damaging
Transcript: ENSMUST00000137170
AA Change: V39A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133045
Gene: ENSMUSG00000085793
AA Change: V39A

Domain	Start	End	E-Value	Type
Pfam:LIN52	18	112	1.1e-42	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000221033
AA Change: V26A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221172

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	T	14: 56,016,510 (GRCm39)	C314S	probably damaging	Het
Agr2	T	A	12: 36,048,634 (GRCm39)	I128N	probably damaging	Het
Akr1c6	T	C	13: 4,496,412 (GRCm39)	I91T	possibly damaging	Het
Ankrd45	A	G	1: 160,990,909 (GRCm39)	I221V	probably benign	Het
Armc3	A	T	2: 19,293,761 (GRCm39)	L517F	probably damaging	Het
Atp13a3	A	T	16: 30,141,766 (GRCm39)	M1129K	probably benign	Het
Atp6v0a4	T	A	6: 38,031,491 (GRCm39)	Q670L	probably benign	Het
Bank1	T	C	3: 135,806,185 (GRCm39)	Y483C	probably damaging	Het
Bcan	A	T	3: 87,900,357 (GRCm39)		probably benign	Het
Bcl11a	G	A	11: 24,108,333 (GRCm39)	E104K	probably benign	Het
Clasp2	C	T	9: 113,673,208 (GRCm39)	Q368*	probably null	Het
Clcn1	T	A	6: 42,267,037 (GRCm39)	Y71N	probably benign	Het
Cul2	C	T	18: 3,429,634 (GRCm39)	T498I	possibly damaging	Het
Fat4	A	G	3: 39,035,390 (GRCm39)	D3014G	probably damaging	Het
Flnc	T	C	6: 29,445,636 (GRCm39)		probably benign	Het
Il36g	C	A	2: 24,077,272 (GRCm39)	S28*	probably null	Het
Itgb3bp	A	G	4: 99,677,923 (GRCm39)		probably benign	Het
Itm2b	G	A	14: 73,603,229 (GRCm39)	P120L	probably damaging	Het
Klk1b26	T	C	7: 43,662,151 (GRCm39)	F3S	possibly damaging	Het
Magt1	A	C	X: 105,032,622 (GRCm39)	N242K	probably benign	Het
Nos3	A	G	5: 24,588,627 (GRCm39)	M1118V	probably damaging	Het
Or1j13	A	T	2: 36,369,734 (GRCm39)	M136K	probably damaging	Het
Or6k2	T	C	1: 173,987,110 (GRCm39)	V257A	probably damaging	Het
Paqr5	A	C	9: 61,880,084 (GRCm39)	L56R	probably damaging	Het
Pcdhb16	T	C	18: 37,612,396 (GRCm39)	F452S	probably damaging	Het
Prdm5	T	A	6: 65,833,116 (GRCm39)		probably benign	Het
Rps6ka5	A	G	12: 100,524,907 (GRCm39)		probably benign	Het
Slc22a5	A	G	11: 53,765,840 (GRCm39)	F249L	probably benign	Het
Spata31f1a	C	A	4: 42,848,362 (GRCm39)	G1265C	probably benign	Het
Ttll2	T	C	17: 7,618,779 (GRCm39)	K383E	probably benign	Het
Ube2o	G	A	11: 116,435,954 (GRCm39)	P353L	probably damaging	Het
Vmn1r63	T	C	7: 5,806,110 (GRCm39)	D174G	probably benign	Het
Vmn2r82	A	G	10: 79,192,643 (GRCm39)		probably null	Het
Xpnpep2	T	A	X: 47,207,205 (GRCm39)		probably benign	Het
Zfp352	T	A	4: 90,111,994 (GRCm39)	S45T	possibly damaging	Het
Zfp811	A	G	17: 33,017,855 (GRCm39)		probably benign	Het
Zfyve19	G	A	2: 119,046,717 (GRCm39)	A304T	probably damaging	Het

Other mutations in Lin52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01142:Lin52	APN	12	84,503,009 (GRCm39)	unclassified	probably benign
R0038:Lin52	UTSW	12	84,576,499 (GRCm39)	missense	probably damaging	1.00
R7326:Lin52	UTSW	12	84,504,728 (GRCm39)	missense	probably damaging	0.96
R9030:Lin52	UTSW	12	84,592,681 (GRCm39)	missense
R9311:Lin52	UTSW	12	84,576,470 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02