Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Lsm14b'

471927

Institutional Source

Beutler Lab

Gene Symbol

Lsm14b

Ensembl Gene

ENSMUSG00000039108

Gene Name

LSM family member 14B

Synonyms

MMRRC Submission

044149-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179666780-179677258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 179673218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 84 (S84R)

Ref Sequence

ENSEMBL: ENSMUSP00000062519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029082] [ENSMUST00000055485] [ENSMUST00000058764] [ENSMUST00000129529]

AlphaFold

Q8CGC4

Predicted Effect

probably benign
Transcript: ENSMUST00000029082

SMART Domains

Protein: ENSMUSP00000029082
Gene: ENSMUSG00000027566

Domain	Start	End	E-Value	Type
Proteasome_A_N	3	25	1.84e-9	SMART
Pfam:Proteasome	26	211	1.5e-65	PFAM
low complexity region	223	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055485
AA Change: S164R

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000055036
Gene: ENSMUSG00000039108
AA Change: S164R

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
AA Change: S84R

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000062519
Gene: ENSMUSG00000039108
AA Change: S84R

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: ENSMUST00000126021

Predicted Effect

probably benign
Transcript: ENSMUST00000129529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140257

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,250,874 (GRCm39)	Q581*	probably null	Het
Agl	A	G	3: 116,587,423 (GRCm39)	V44A	probably damaging	Het
Alpk3	T	A	7: 80,742,008 (GRCm39)	D608E	possibly damaging	Het
Aspm	C	A	1: 139,382,965 (GRCm39)		probably benign	Het
Bbs2	T	C	8: 94,794,995 (GRCm39)	N692S	probably benign	Het
Bend4	A	G	5: 67,575,161 (GRCm39)	I240T	probably benign	Het
Casp8	G	T	1: 58,872,895 (GRCm39)	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,634,865 (GRCm39)	I123N	probably damaging	Het
Ccr9	T	G	9: 123,608,499 (GRCm39)	I60M	probably benign	Het
Cd163	T	A	6: 124,303,531 (GRCm39)	W1066R	probably benign	Het
Cd226	A	T	18: 89,225,307 (GRCm39)	H68L	probably benign	Het
Cdkn3	T	A	14: 47,004,674 (GRCm39)	C79S	probably null	Het
Cnnm1	A	T	19: 43,458,162 (GRCm39)	E658V	probably benign	Het
Cog7	T	C	7: 121,555,252 (GRCm39)	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,415,760 (GRCm39)	V286E	possibly damaging	Het
Creg2	C	A	1: 39,664,122 (GRCm39)	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,688,410 (GRCm39)	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,625,648 (GRCm39)	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,725,277 (GRCm39)	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,214,157 (GRCm39)	V744A	probably benign	Het
Dlgap2	T	A	8: 14,777,128 (GRCm39)	Y124*	probably null	Het
Dnah3	T	C	7: 119,522,103 (GRCm39)	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,730 (GRCm39)	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,052,553 (GRCm39)	V347D	probably benign	Het
Gigyf2	C	T	1: 87,334,889 (GRCm39)	T294M	probably damaging	Het
Gli3	C	G	13: 15,900,747 (GRCm39)	S1378*	probably null	Het
Gnao1	G	A	8: 94,693,627 (GRCm39)	D337N	probably benign	Het
Gp2	T	A	7: 119,048,352 (GRCm39)	Q422L	probably benign	Het
Ifit1	T	A	19: 34,625,869 (GRCm39)	M335K	possibly damaging	Het
Ism1	T	C	2: 139,520,677 (GRCm39)	S30P	probably benign	Het
Itgax	A	G	7: 127,739,619 (GRCm39)	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,765,081 (GRCm39)	A442V	probably damaging	Het
Kif13a	T	C	13: 46,925,000 (GRCm39)	I311M	probably damaging	Het
Lrrc37	A	G	11: 103,432,946 (GRCm39)	S1232P	possibly damaging	Het
Lzts3	A	G	2: 130,478,208 (GRCm39)	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,952,191 (GRCm39)	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,311 (GRCm39)	N501I	probably damaging	Het
Mctp2	T	C	7: 71,752,925 (GRCm39)	E776G	probably damaging	Het
Mex3d	A	T	10: 80,218,421 (GRCm39)	N265K	probably damaging	Het
Myo5a	A	G	9: 75,111,115 (GRCm39)	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,580,632 (GRCm39)	M35V	probably damaging	Het
Nek4	G	A	14: 30,679,036 (GRCm39)		probably null	Het
Ngrn	T	C	7: 79,911,681 (GRCm39)		probably null	Het
Nlrp1a	T	A	11: 71,013,846 (GRCm39)	Q468L	probably benign	Het
Or11g27	T	A	14: 50,771,655 (GRCm39)	M262K	probably damaging	Het
Or5b98	A	C	19: 12,931,895 (GRCm39)	Q314P	probably benign	Het
Phtf2	T	C	5: 20,980,932 (GRCm39)	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852 (GRCm39)	Q140*	probably null	Het
Prtg	G	A	9: 72,799,536 (GRCm39)	G778E	probably benign	Het
Pum3	T	C	19: 27,397,451 (GRCm39)	E308G	probably damaging	Het
Pwp1	T	G	10: 85,718,750 (GRCm39)	F306V	probably damaging	Het
Rab24	A	T	13: 55,469,389 (GRCm39)	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,085,898 (GRCm39)	F126L	probably benign	Het
Samd13	A	T	3: 146,386,451 (GRCm39)		probably benign	Het
Serac1	T	A	17: 6,115,324 (GRCm39)	H213L	probably benign	Het
Slc45a3	A	G	1: 131,905,811 (GRCm39)	E278G	probably damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slx4	A	T	16: 3,818,815 (GRCm39)		probably null	Het
Smarca4	C	A	9: 21,558,726 (GRCm39)	T631K	probably benign	Het
Snx16	C	T	3: 10,499,541 (GRCm39)	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,022,688 (GRCm39)	V140A	probably damaging	Het
Tcf12	A	T	9: 71,775,522 (GRCm39)	D409E	probably damaging	Het
Tgfbr2	G	T	9: 115,939,323 (GRCm39)	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,578,703 (GRCm39)	H131N	probably damaging	Het
Ttn	C	A	2: 76,660,232 (GRCm39)	R7458I	possibly damaging	Het
Ttn	C	A	2: 76,543,855 (GRCm39)	E31298*	probably null	Het
Usp7	A	G	16: 8,529,966 (GRCm39)	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Wdfy4	T	C	14: 32,827,968 (GRCm39)	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,555,819 (GRCm39)	P3A	probably damaging	Het
Znhit6	A	G	3: 145,282,688 (GRCm39)	K21R	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
IGL03078:Lsm14b	APN	2	179,668,521 (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
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

Predicted Primers

PCR Primer
(F):5'- AGCCTGGGAGAGTAAACCCTAG -3'
(R):5'- GGCTTTAAAACACAACCCAGTG -3'

Sequencing Primer
(F):5'- CTGGGAGAGTAAACCCTAGGTTCAG -3'
(R):5'- TGAAACTTCACTGGGAACACAG -3'

Posted On

2017-03-31