Mutagenetix > Incidental Mutation

Incidental Mutation 'R5257:Lbhd1'

399843

Institutional Source

Beutler Lab

Gene Symbol

Lbhd1

Ensembl Gene

ENSMUSG00000096740

Gene Name

LBH domain containing 1

Synonyms

Gm21743

MMRRC Submission

042855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8861242-8868123 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 8861453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140564 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000093658

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

noncoding transcript
Transcript: ENSMUST00000175573

Predicted Effect

probably benign
Transcript: ENSMUST00000177826

SMART Domains

Protein: ENSMUSP00000137432
Gene: ENSMUSG00000116166

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

noncoding transcript
Transcript: ENSMUST00000186647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189165

Predicted Effect

probably benign
Transcript: ENSMUST00000187504

SMART Domains

Protein: ENSMUSP00000139692
Gene: ENSMUSG00000096740

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190843

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

Meta Mutation Damage Score

0.0966

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,199,684 (GRCm39)	T128S	possibly damaging	Het
Abca16	T	G	7: 120,035,992 (GRCm39)		probably null	Het
Acp3	T	C	9: 104,186,674 (GRCm39)	I266V	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Asf1b	C	T	8: 84,695,896 (GRCm39)	T179I	probably benign	Het
Astn1	A	G	1: 158,440,102 (GRCm39)	K890R	probably damaging	Het
Card11	G	A	5: 140,862,180 (GRCm39)	P1039L	possibly damaging	Het
Cep43	T	C	17: 8,391,775 (GRCm39)	S152P	probably benign	Het
Chsy3	A	G	18: 59,542,866 (GRCm39)	E668G	possibly damaging	Het
Cnot8	T	A	11: 58,008,348 (GRCm39)	N271K	possibly damaging	Het
Dcaf5	G	T	12: 80,444,493 (GRCm39)	P200H	probably damaging	Het
Dkk4	C	A	8: 23,117,031 (GRCm39)	L215I	probably damaging	Het
Dnhd1	C	T	7: 105,323,244 (GRCm39)	T584I	probably benign	Het
Dock3	T	C	9: 106,874,124 (GRCm39)	Y449C	probably damaging	Het
Dsg1a	A	G	18: 20,453,988 (GRCm39)	D31G	probably damaging	Het
Foxi2	C	T	7: 135,012,256 (GRCm39)	T48M	probably benign	Het
Gdf3	T	C	6: 122,583,345 (GRCm39)	M341V	probably damaging	Het
Gm21738	A	G	14: 19,415,942 (GRCm38)	L199S	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Igkv4-80	T	A	6: 68,993,811 (GRCm39)	T27S	probably benign	Het
Ipo9	A	T	1: 135,313,173 (GRCm39)	C1019S	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Ktn1	T	A	14: 47,904,820 (GRCm39)	H199Q	probably benign	Het
Kyat3	A	G	3: 142,440,337 (GRCm39)	M354V	probably benign	Het
Llgl1	G	C	11: 60,602,389 (GRCm39)		probably null	Het
Lyzl6	T	A	11: 103,525,899 (GRCm39)	I74F	probably damaging	Het
Mfsd4b2	T	A	10: 39,798,017 (GRCm39)	M113L	probably benign	Het
Mslnl	T	C	17: 25,965,139 (GRCm39)	Y502H	probably benign	Het
Nckap5	A	G	1: 125,952,245 (GRCm39)	S1372P	probably damaging	Het
Nle1	T	C	11: 82,795,772 (GRCm39)	D225G	probably damaging	Het
Or5au1	T	C	14: 52,273,341 (GRCm39)	T76A	possibly damaging	Het
P2rx7	A	G	5: 122,819,066 (GRCm39)	E496G	probably damaging	Het
Padi4	C	T	4: 140,473,515 (GRCm39)	V641M	probably benign	Het
Phf11d	T	C	14: 59,590,160 (GRCm39)	I221V	possibly damaging	Het
Pla2g2c	G	A	4: 138,458,856 (GRCm39)		probably benign	Het
Prdm16	A	T	4: 154,451,671 (GRCm39)	D179E	possibly damaging	Het
Psca	A	T	15: 74,588,240 (GRCm39)	I56F	probably damaging	Het
Ptrhd1	A	G	12: 4,286,481 (GRCm39)	Y124C	probably damaging	Het
Sardh	T	C	2: 27,134,271 (GRCm39)	T82A	probably damaging	Het
Sesn1	C	T	10: 41,770,984 (GRCm39)	P172S	probably benign	Het
Setd4	T	C	16: 93,393,221 (GRCm39)	T57A	probably damaging	Het
Skint5	T	C	4: 113,434,859 (GRCm39)	T1037A	unknown	Het
Slc18a3	T	C	14: 32,185,777 (GRCm39)	D202G	probably damaging	Het
Slc44a5	G	A	3: 153,948,760 (GRCm39)	C176Y	probably damaging	Het
Slc6a5	G	A	7: 49,579,740 (GRCm39)	V373M	probably damaging	Het
Sorbs3	T	C	14: 70,422,483 (GRCm39)	I523V	probably benign	Het
Sspo	T	C	6: 48,453,428 (GRCm39)	V2872A	probably damaging	Het
Stard9	T	A	2: 120,529,824 (GRCm39)	L2027H	probably damaging	Het
Tex2	T	A	11: 106,458,585 (GRCm39)		probably benign	Het
Tfdp1	C	T	8: 13,419,529 (GRCm39)	T86M	possibly damaging	Het
Ttc6	A	T	12: 57,749,061 (GRCm39)	D1331V	possibly damaging	Het
Vps13b	A	G	15: 35,794,567 (GRCm39)	T2326A	possibly damaging	Het
Wnk1	A	G	6: 120,014,149 (GRCm39)	S149P	probably benign	Het
Zfp521	G	A	18: 13,980,035 (GRCm39)	S126F	probably damaging	Het
Zfp958	A	T	8: 4,678,456 (GRCm39)	E160D	probably benign	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
R5258:Lbhd1	UTSW	19	8,861,453 (GRCm39)	unclassified	probably benign
R7013:Lbhd1	UTSW	19	8,861,523 (GRCm39)	missense	probably damaging	0.97
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'- TGACCTGGAATCCAACCATCTC -3'
(R):5'- GAAGAAAGCTTCTGCGTCTTC -3'

Sequencing Primer
(F):5'- CCACGTTTACAGAGTTACTATCATGG -3'
(R):5'- AAGAAAGCTTCTGCGTCTTCTTCAC -3'

Posted On

2016-07-06