Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03078:Lsm14b'

417765

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lsm14b

Ensembl Gene

ENSMUSG00000039108

Gene Name

LSM family member 14B

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03078

Quality Score

Status

Chromosome

Chromosomal Location

179666780-179677258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 179668521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 74 (I74T)

Ref Sequence

ENSEMBL: ENSMUSP00000055036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055485] [ENSMUST00000058764]

AlphaFold

Q8CGC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000055485
AA Change: I74T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055036
Gene: ENSMUSG00000039108
AA Change: I74T

Domain	Start	End	E-Value	Type
LSM14	3	100	4.33e-53	SMART
low complexity region	123	142	N/A	INTRINSIC
low complexity region	216	238	N/A	INTRINSIC
FDF	247	350	3.37e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000058764

SMART Domains

Protein: ENSMUSP00000062519
Gene: ENSMUSG00000039108

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
low complexity region	28	44	N/A	INTRINSIC
low complexity region	136	158	N/A	INTRINSIC
FDF	167	270	3.37e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140257

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,167,371 (GRCm39)	K1482*	probably null	Het
Abtb3	C	T	10: 85,468,027 (GRCm39)	A774V	probably damaging	Het
Adam15	A	G	3: 89,253,244 (GRCm39)		probably benign	Het
Adamdec1	C	T	14: 68,806,299 (GRCm39)	R392H	possibly damaging	Het
Anxa7	T	C	14: 20,506,624 (GRCm39)	K439E	probably damaging	Het
Arap2	T	A	5: 62,890,408 (GRCm39)		probably benign	Het
Asic5	A	G	3: 81,921,735 (GRCm39)	E367G	possibly damaging	Het
Cubn	T	C	2: 13,291,905 (GRCm39)	T3307A	possibly damaging	Het
Dnd1	T	C	18: 36,899,197 (GRCm39)	E8G	probably damaging	Het
Eif2ak1	T	C	5: 143,810,587 (GRCm39)	I99T	probably benign	Het
Fras1	C	T	5: 96,783,994 (GRCm39)	R833C	probably damaging	Het
Hectd1	A	G	12: 51,849,019 (GRCm39)	S362P	probably damaging	Het
Hs3st4	A	G	7: 123,996,669 (GRCm39)	E445G	probably damaging	Het
Kcnh1	A	G	1: 192,117,108 (GRCm39)	T21A	probably damaging	Het
Kif26b	G	A	1: 178,698,291 (GRCm39)	R594H	probably damaging	Het
Myh2	T	A	11: 67,081,256 (GRCm39)	S1291T	probably benign	Het
Myo3b	T	A	2: 70,117,335 (GRCm39)	F923I	probably damaging	Het
Obscn	T	C	11: 58,969,624 (GRCm39)		probably null	Het
Or51f1d	T	C	7: 102,701,036 (GRCm39)	F177S	probably damaging	Het
Or8b53	C	T	9: 38,667,541 (GRCm39)	Q186*	probably null	Het
Piezo2	A	C	18: 63,203,146 (GRCm39)	M1484R	probably damaging	Het
Rhoh	T	A	5: 66,050,231 (GRCm39)	V167D	probably damaging	Het
Rspo3	T	C	10: 29,380,657 (GRCm39)	Y119C	probably damaging	Het
Scpep1	T	A	11: 88,826,657 (GRCm39)	I260F	possibly damaging	Het
Slc15a3	T	A	19: 10,834,609 (GRCm39)	F497I	probably damaging	Het
Stom	T	C	2: 35,205,941 (GRCm39)	K263E	probably damaging	Het
Taf4b	C	A	18: 14,946,611 (GRCm39)	A478E	possibly damaging	Het
Ttn	C	T	2: 76,600,594 (GRCm39)		probably benign	Het
Wdr95	C	T	5: 149,535,062 (GRCm39)	A598V	possibly damaging	Het

Other mutations in Lsm14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Lsm14b	APN	2	179,674,419 (GRCm39)	missense	probably damaging	1.00
IGL01599:Lsm14b	APN	2	179,674,396 (GRCm39)	missense	probably damaging	1.00
PIT4283001:Lsm14b	UTSW	2	179,674,336 (GRCm39)	missense	probably benign	0.00
R1166:Lsm14b	UTSW	2	179,673,334 (GRCm39)	unclassified	probably benign
R1777:Lsm14b	UTSW	2	179,673,588 (GRCm39)	missense	probably benign	0.24
R1840:Lsm14b	UTSW	2	179,668,521 (GRCm39)	missense	probably damaging	1.00
R2095:Lsm14b	UTSW	2	179,673,580 (GRCm39)	unclassified	probably benign
R4033:Lsm14b	UTSW	2	179,673,309 (GRCm39)	missense	probably benign	0.44
R4720:Lsm14b	UTSW	2	179,669,774 (GRCm39)	nonsense	probably null
R4967:Lsm14b	UTSW	2	179,675,692 (GRCm39)	unclassified	probably benign
R5964:Lsm14b	UTSW	2	179,673,218 (GRCm39)	missense	probably benign	0.12
R8269:Lsm14b	UTSW	2	179,674,407 (GRCm39)	missense	probably damaging	1.00
R8971:Lsm14b	UTSW	2	179,667,107 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02