Mutagenetix > Incidental Mutations

Incidental Mutation 'R4375:Lactbl1'

325066

Institutional Source

Beutler Lab

Gene Symbol

Lactbl1

Ensembl Gene

ENSMUSG00000070683

Gene Name

lactamase, beta-like 1

Synonyms

MMRRC Submission

041119-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R4375 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

136622621-136639110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136637591 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 418 (V418A)

Ref Sequence

ENSEMBL: ENSMUSP00000138455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178843]

AlphaFold

S4R213

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178843
AA Change: V418A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138455
Gene: ENSMUSG00000070683
AA Change: V418A

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Beta-lactamase	87	440	3e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195460

Meta Mutation Damage Score

0.0783

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	T	1: 9,561,628		probably benign	Het
C330007P06Rik	C	A	X: 36,824,159	C206F	probably benign	Het
Cd209c	T	C	8: 3,954,635		noncoding transcript	Het
Cntnap1	A	G	11: 101,182,253	D561G	probably damaging	Het
Csf1	T	A	3: 107,756,739	T38S	probably damaging	Het
Cyp4b1	T	C	4: 115,636,313	T191A	probably benign	Het
Dapk1	A	T	13: 60,761,589	M1339L	probably benign	Het
Dpm3	T	C	3: 89,266,908	Y59H	probably damaging	Het
Eif2ak4	A	G	2: 118,427,924	Y585C	probably damaging	Het
Ercc1	G	A	7: 19,347,132		probably benign	Het
Fam184b	T	C	5: 45,542,343	D577G	probably benign	Het
Gon4l	C	A	3: 88,907,387	P1888T	probably benign	Het
Hsf2bp	C	T	17: 31,987,348	D270N	probably null	Het
Lifr	A	T	15: 7,166,898	M188L	probably benign	Het
Ltbp1	G	T	17: 75,312,997	G760V	probably damaging	Het
March11	A	G	15: 26,309,446	E62G	probably damaging	Het
Nlrp12	A	G	7: 3,240,946	L312P	possibly damaging	Het
Olfr365	T	A	2: 37,201,562	M107K	probably benign	Het
Olfr608	T	C	7: 103,470,071	S11P	probably damaging	Het
Olfr898	T	C	9: 38,349,169	F23L	probably benign	Het
Pcdh17	T	C	14: 84,448,271	V726A	possibly damaging	Het
Pdia4	G	A	6: 47,798,392	R495W	probably damaging	Het
Phf20l1	T	C	15: 66,615,222	S369P	probably benign	Het
Polq	G	T	16: 37,013,181	V79F	probably damaging	Het
Prcc	A	G	3: 87,867,407	Y363H	probably damaging	Het
Proser3	A	G	7: 30,540,671	V336A	possibly damaging	Het
Rbbp8	C	T	18: 11,725,410	T646M	probably benign	Het
Rgs1	T	C	1: 144,247,906	T94A	probably benign	Het
Rpl11	G	A	4: 136,051,143		probably benign	Het
Slc14a2	G	A	18: 78,207,068	R62C	probably damaging	Het
Snx9	G	A	17: 5,908,626	W292*	probably null	Het
St14	T	C	9: 31,090,458	I784V	probably benign	Het
Strc	A	G	2: 121,380,823	S14P	unknown	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Ubap1	G	A	4: 41,371,850		probably null	Het
Zfr	T	C	15: 12,118,340		probably null	Het

Other mutations in Lactbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Lactbl1	APN	4	136631051	missense	probably damaging	1.00
R1592:Lactbl1	UTSW	4	136635876	splice site	probably null
R2869:Lactbl1	UTSW	4	136626786	missense	probably damaging	1.00
R2869:Lactbl1	UTSW	4	136626786	missense	probably damaging	1.00
R2874:Lactbl1	UTSW	4	136626786	missense	probably damaging	1.00
R3844:Lactbl1	UTSW	4	136637960	missense	possibly damaging	0.91
R5185:Lactbl1	UTSW	4	136631045	missense	probably benign	0.00
R6227:Lactbl1	UTSW	4	136637918	missense	probably benign	0.00
R6544:Lactbl1	UTSW	4	136632989	missense	possibly damaging	0.69
R7028:Lactbl1	UTSW	4	136632975	missense	probably damaging	1.00
R7476:Lactbl1	UTSW	4	136637639	missense	probably benign	0.01
R7779:Lactbl1	UTSW	4	136630996	nonsense	probably null
R8782:Lactbl1	UTSW	4	136631018	missense	possibly damaging	0.78
R8915:Lactbl1	UTSW	4	136632932	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- ATTGCTAGCACCACTACGCG -3'
(R):5'- TCACTGGGAGCTGAACACTG -3'

Sequencing Primer
(F):5'- CACCACTACGCGCCTGC -3'
(R):5'- ATCCAGTGGGTAGAACCGCAC -3'

Posted On

2015-07-06