Mutagenetix > Incidental Mutation

Incidental Mutation 'R2386:Lbhd2'

247708

Institutional Source

Beutler Lab

Gene Symbol

Lbhd2

Ensembl Gene

ENSMUSG00000087075

Gene Name

LBH domain containing 2

Synonyms

A230065H16Rik, LOC380787, Lbh2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R2386 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111373243-111378524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111376741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 63 (T63S)

Ref Sequence

ENSEMBL: ENSMUSP00000128648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000150384]

AlphaFold

G3UW55

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150384
AA Change: T63S

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128648
Gene: ENSMUSG00000087075
AA Change: T63S

Domain	Start	End	E-Value	Type
Pfam:Lbh	25	75	5.9e-14	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	A	G	11: 83,328,575 (GRCm39)	D2G	probably damaging	Het
Btnl9	A	G	11: 49,069,602 (GRCm39)	S226P	probably damaging	Het
Canx	A	T	11: 50,187,933 (GRCm39)	D558E	probably benign	Het
Cd248	G	T	19: 5,119,221 (GRCm39)	M356I	possibly damaging	Het
Col1a1	A	T	11: 94,841,217 (GRCm39)	D1200V	unknown	Het
Dgat2	A	C	7: 98,806,300 (GRCm39)	V299G	possibly damaging	Het
Ercc6	G	A	14: 32,263,316 (GRCm39)		probably null	Het
Fgfr4	T	C	13: 55,315,714 (GRCm39)	V747A	probably benign	Het
Ftcd	A	C	10: 76,417,211 (GRCm39)	D240A	probably damaging	Het
Hs3st3b1	C	A	11: 63,780,039 (GRCm39)	E363*	probably null	Het
Ikbke	A	G	1: 131,187,003 (GRCm39)	L563P	probably damaging	Het
Mterf1a	A	T	5: 3,941,225 (GRCm39)	D214E	probably benign	Het
Or5p53	A	G	7: 107,533,480 (GRCm39)	Y251C	probably damaging	Het
Pclo	A	G	5: 14,815,261 (GRCm39)	E4511G	unknown	Het
Pigs	A	G	11: 78,223,812 (GRCm39)	Y108C	probably damaging	Het
Pkhd1l1	A	G	15: 44,391,574 (GRCm39)	T1547A	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Rad54b	T	A	4: 11,597,874 (GRCm39)	M253K	probably benign	Het
Rrp12	T	C	19: 41,859,723 (GRCm39)	D1080G	probably benign	Het
Sox6	A	G	7: 115,196,740 (GRCm39)	Y298H	probably damaging	Het
Tdrd9	A	T	12: 111,982,334 (GRCm39)	D475V	probably damaging	Het
Tmem131	G	A	1: 36,868,716 (GRCm39)	H370Y	probably benign	Het

Other mutations in Lbhd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0265:Lbhd2	UTSW	12	111,376,676 (GRCm39)	missense	probably damaging	0.99
R6509:Lbhd2	UTSW	12	111,376,747 (GRCm39)	missense	possibly damaging	0.89
R6524:Lbhd2	UTSW	12	111,376,724 (GRCm39)	missense	probably damaging	0.99
R7282:Lbhd2	UTSW	12	111,376,724 (GRCm39)	missense	probably damaging	0.99
R8483:Lbhd2	UTSW	12	111,378,190 (GRCm39)	missense	probably damaging	0.99
R9072:Lbhd2	UTSW	12	111,375,040 (GRCm39)	missense	probably damaging	1.00
R9756:Lbhd2	UTSW	12	111,376,774 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGCCTTCCTAGTAGGACAG -3'
(R):5'- TGTGCATTAAGAGGACAGGTAC -3'

Sequencing Primer
(F):5'- TCCTAGTAGGACAGGACAGAG -3'
(R):5'- TGCATTAAGAGGACAGGTACAGATG -3'

Posted On

2014-11-11