Mutagenetix > Incidental Mutation

Incidental Mutation 'R7013:Lbhd1'

545151

Institutional Source

Beutler Lab

Gene Symbol

Lbhd1

Ensembl Gene

ENSMUSG00000096740

Gene Name

LBH domain containing 1

Synonyms

Gm21743

MMRRC Submission

045114-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7013 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8861242-8868123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8861523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 52 (S52P)

Ref Sequence

ENSEMBL: ENSMUSP00000139692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096251] [ENSMUST00000096253] [ENSMUST00000177826] [ENSMUST00000185488] [ENSMUST00000187504] [ENSMUST00000191089]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096251

SMART Domains

Protein: ENSMUSP00000093970
Gene: ENSMUSG00000071653

Domain	Start	End	E-Value	Type
low complexity region	15	37	N/A	INTRINSIC
low complexity region	99	112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096253

SMART Domains

Protein: ENSMUSP00000093972
Gene: ENSMUSG00000071654

Domain	Start	End	E-Value	Type
Pfam:DUF4574	1	84	1.3e-42	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177826
AA Change: S52P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137432
Gene: ENSMUSG00000116166
AA Change: S52P

Domain	Start	End	E-Value	Type
Pfam:Lbh	1	101	1.6e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185488

SMART Domains

Protein: ENSMUSP00000140221
Gene: ENSMUSG00000071653

Domain	Start	End	E-Value	Type
low complexity region	15	37	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187504
AA Change: S52P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139692
Gene: ENSMUSG00000096740
AA Change: S52P

Domain	Start	End	E-Value	Type
Pfam:Lbh	1	101	2.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191089

SMART Domains

Protein: ENSMUSP00000140564
Gene: ENSMUSG00000116347

Domain	Start	End	E-Value	Type
low complexity region	15	37	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,618,345 (GRCm39)	I213V	probably null	Het
Abcc4	A	T	14: 118,763,755 (GRCm39)	C952S	probably benign	Het
Adhfe1	T	C	1: 9,620,816 (GRCm39)		probably benign	Het
Apob	T	A	12: 8,060,080 (GRCm39)	L2854*	probably null	Het
Arhgap5	T	A	12: 52,565,109 (GRCm39)	N693K	probably benign	Het
Arid5b	A	G	10: 67,933,649 (GRCm39)	V508A	probably damaging	Het
Atl1	A	G	12: 70,000,214 (GRCm39)	E288G	probably damaging	Het
Bank1	A	G	3: 135,806,270 (GRCm39)	S455P	possibly damaging	Het
Ces1c	A	T	8: 93,857,392 (GRCm39)	L63Q	probably damaging	Het
Crmp1	A	T	5: 37,426,036 (GRCm39)		probably null	Het
Csnka2ip	T	C	16: 64,298,780 (GRCm39)	D528G	unknown	Het
Dact2	T	C	17: 14,423,796 (GRCm39)	T66A	probably benign	Het
Dkk2	T	C	3: 131,880,760 (GRCm39)	L135P	probably damaging	Het
Drc3	A	G	11: 60,278,129 (GRCm39)	N381S	probably benign	Het
Dsg4	T	C	18: 20,591,578 (GRCm39)	V439A	possibly damaging	Het
Dysf	C	T	6: 84,114,340 (GRCm39)	P1240S	probably damaging	Het
Esyt1	A	T	10: 128,361,520 (GRCm39)	V58E	probably damaging	Het
Exo1	G	T	1: 175,721,338 (GRCm39)	A326S	probably damaging	Het
Fam20b	A	G	1: 156,518,135 (GRCm39)	S220P	probably damaging	Het
Fmo6	G	A	1: 162,745,817 (GRCm39)	T402I	probably benign	Het
Galnt10	A	T	11: 57,656,410 (GRCm39)	D198V	probably benign	Het
Gsap	A	T	5: 21,483,108 (GRCm39)	E604D	probably benign	Het
Il20rb	A	G	9: 100,343,481 (GRCm39)	Y258H	probably benign	Het
Impg1	A	T	9: 80,285,776 (GRCm39)	S409R	probably damaging	Het
Jak3	G	T	8: 72,131,425 (GRCm39)	V97F	possibly damaging	Het
Lman2l	A	G	1: 36,482,599 (GRCm39)		probably benign	Het
Lnpep	C	A	17: 17,788,625 (GRCm39)	M493I	probably benign	Het
Mpp4	T	C	1: 59,188,774 (GRCm39)	D132G	probably damaging	Het
Nlrp1a	G	A	11: 71,014,378 (GRCm39)	R291W	probably benign	Het
Or1e23	G	T	11: 73,407,247 (GRCm39)	Y259*	probably null	Het
Or4a79	T	A	2: 89,551,730 (GRCm39)	I242F	probably benign	Het
Or4b13	C	T	2: 90,082,441 (GRCm39)	R297Q	possibly damaging	Het
Or4f15	G	A	2: 111,814,308 (GRCm39)	A37V	probably benign	Het
Or4n4b	T	A	14: 50,536,656 (GRCm39)	I37F	probably damaging	Het
Orc5	A	G	5: 22,738,787 (GRCm39)	V158A	probably benign	Het
Pate8	C	A	9: 36,493,854 (GRCm39)	W26C	unknown	Het
Pcdhga3	A	G	18: 37,808,674 (GRCm39)	N376D	probably damaging	Het
Ptprr	T	A	10: 116,072,659 (GRCm39)	I207N	probably damaging	Het
Recql5	A	G	11: 115,785,402 (GRCm39)	V698A	probably benign	Het
Rnf212	A	T	5: 108,877,826 (GRCm39)	M222K	probably benign	Het
Rsph6a	A	G	7: 18,788,820 (GRCm39)	S51G	probably benign	Het
Smap2	T	C	4: 120,839,365 (GRCm39)	K121E	probably damaging	Het
Syt11	A	T	3: 88,655,296 (GRCm39)	V335D	possibly damaging	Het
Terb1	A	T	8: 105,215,222 (GRCm39)	C251*	probably null	Het
Tmprss11d	C	A	5: 86,474,432 (GRCm39)	R37L	probably damaging	Het
Ttbk2	T	C	2: 120,576,265 (GRCm39)	N904S	possibly damaging	Het
Vmn1r119	T	A	7: 20,745,714 (GRCm39)	I223F	probably damaging	Het
Vmn1r66	T	C	7: 10,008,683 (GRCm39)	R117G	possibly damaging	Het
Zfp106	T	C	2: 120,362,113 (GRCm39)	D1025G	probably damaging	Het

Other mutations in Lbhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3834:Lbhd1	UTSW	19	8,861,421 (GRCm39)	missense	probably benign
R4645:Lbhd1	UTSW	19	8,861,452 (GRCm39)	unclassified	probably benign
R4812:Lbhd1	UTSW	19	8,866,538 (GRCm39)	missense	probably damaging	0.99
R5257:Lbhd1	UTSW	19	8,861,453 (GRCm39)	unclassified	probably benign
R5258:Lbhd1	UTSW	19	8,861,453 (GRCm39)	unclassified	probably benign
R8424:Lbhd1	UTSW	19	8,861,341 (GRCm39)	missense	possibly damaging	0.84
R9188:Lbhd1	UTSW	19	8,864,397 (GRCm39)	critical splice acceptor site	probably null
R9300:Lbhd1	UTSW	19	8,861,550 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCATGGCATCCAGAAAGTCC -3'
(R):5'- ATTCCTGGACATCTATTGTGGGTC -3'

Sequencing Primer
(F):5'- TGGCATCCAGAAAGTCCTCAGTTG -3'
(R):5'- TGTCAATGGCCTGAACGAATC -3'

Posted On

2019-05-13