Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03276:Lsm12'

415422

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lsm12

Ensembl Gene

ENSMUSG00000020922

Gene Name

LSM12 homolog

Synonyms

2600001B17Rik, 1110032E16Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

IGL03276

Quality Score

Status

Chromosome

Chromosomal Location

102053323-102076122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102073770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 58 (I58L)

Ref Sequence

ENSEMBL: ENSMUSP00000021297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021297] [ENSMUST00000107156]

AlphaFold

Q9D0R8

Predicted Effect

probably benign
Transcript: ENSMUST00000021297
AA Change: I58L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021297
Gene: ENSMUSG00000020922
AA Change: I58L

Domain	Start	End	E-Value	Type
AD	78	165	5.73e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107156

SMART Domains

Protein: ENSMUSP00000102774
Gene: ENSMUSG00000020922

Domain	Start	End	E-Value	Type
AD	21	107	1.31e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153276

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef25	A	C	10: 127,021,794 (GRCm39)	F202V	possibly damaging	Het
Atrnl1	A	T	19: 57,641,359 (GRCm39)	N336Y	probably damaging	Het
Bicc1	T	C	10: 70,789,268 (GRCm39)	D381G	possibly damaging	Het
Cabin1	A	T	10: 75,568,247 (GRCm39)	L912Q	probably damaging	Het
Fam83e	A	G	7: 45,372,884 (GRCm39)	D165G	possibly damaging	Het
Foxn1	T	A	11: 78,261,950 (GRCm39)	T140S	probably benign	Het
Ggt1	A	G	10: 75,416,331 (GRCm39)		probably benign	Het
Kctd8	A	T	5: 69,497,929 (GRCm39)	M239K	possibly damaging	Het
Kdm4d	A	T	9: 14,375,838 (GRCm39)	C7S	probably benign	Het
Kdm5a	T	A	6: 120,379,669 (GRCm39)		probably benign	Het
Klrb1b	T	C	6: 128,792,168 (GRCm39)	N191S	probably benign	Het
Krt35	C	T	11: 99,983,953 (GRCm39)	S349N	probably benign	Het
Krt75	A	T	15: 101,476,811 (GRCm39)	D359E	probably damaging	Het
Lipo5	T	C	19: 33,445,242 (GRCm39)	D109G	unknown	Het
Mxd4	T	C	5: 34,335,088 (GRCm39)	D99G	probably benign	Het
Nlrp4a	T	A	7: 26,163,615 (GRCm39)	N927K	probably damaging	Het
Olfm2	A	G	9: 20,580,083 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,457,980 (GRCm39)	V4103A	possibly damaging	Het
Slc30a9	T	C	5: 67,507,260 (GRCm39)		probably benign	Het
Snap91	T	C	9: 86,707,065 (GRCm39)	T242A	possibly damaging	Het
Srp19	A	C	18: 34,464,843 (GRCm39)	T28P	probably damaging	Het
Tenm2	C	T	11: 35,963,603 (GRCm39)	V943I	possibly damaging	Het
Tgfb3	T	C	12: 86,104,642 (GRCm39)	E384G	probably damaging	Het
Tmem39a	T	A	16: 38,405,646 (GRCm39)	N74K	probably benign	Het
Tnfrsf11a	A	G	1: 105,749,215 (GRCm39)	Y211C	probably damaging	Het

Other mutations in Lsm12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Lsm12	APN	11	102,054,896 (GRCm39)	utr 3 prime	probably benign
IGL02637:Lsm12	APN	11	102,054,948 (GRCm39)	missense	probably benign
R4513:Lsm12	UTSW	11	102,057,909 (GRCm39)	splice site	probably null
R4818:Lsm12	UTSW	11	102,057,989 (GRCm39)	missense	probably damaging	1.00
R7790:Lsm12	UTSW	11	102,055,995 (GRCm39)	splice site	probably null
R8049:Lsm12	UTSW	11	102,056,235 (GRCm39)	missense	possibly damaging	0.81

Posted On

2016-08-02