Mutagenetix > Incidental Mutation

Incidental Mutation 'R6227:Lactbl1'

504392

Institutional Source

Beutler Lab

Gene Symbol

Lactbl1

Ensembl Gene

ENSMUSG00000070683

Gene Name

lactamase, beta-like 1

Synonyms

MMRRC Submission

044398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R6227 (G1)

Quality Score

134.008

Status

Validated

Chromosome

Chromosomal Location

136349932-136366421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 136365229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 527 (A527E)

Ref Sequence

ENSEMBL: ENSMUSP00000138455 (fasta)

Gene Model

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

AlphaFold

S4R213

Predicted Effect

probably benign
Transcript: ENSMUST00000178843
AA Change: A527E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138455
Gene: ENSMUSG00000070683
AA Change: A527E

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

0.0592

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,558,581 (GRCm39)		probably null	Het
Abca4	T	A	3: 121,930,743 (GRCm39)	Y205*	probably null	Het
Adgrf1	A	G	17: 43,621,164 (GRCm39)	D467G	probably benign	Het
Atp7b	T	C	8: 22,510,841 (GRCm39)	D550G	possibly damaging	Het
Bicd1	T	A	6: 149,414,674 (GRCm39)	Y462*	probably null	Het
Cfap97	T	C	8: 46,644,769 (GRCm39)		probably null	Het
Csf1r	T	A	18: 61,258,900 (GRCm39)	Y706*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dst	A	G	1: 34,233,621 (GRCm39)	D3443G	probably benign	Het
Fktn	C	T	4: 53,731,136 (GRCm39)	A96V	probably benign	Het
Inppl1	G	A	7: 101,473,506 (GRCm39)	T1048M	possibly damaging	Het
Itga2	T	C	13: 114,976,097 (GRCm39)	T1092A	probably benign	Het
Miga1	C	T	3: 151,984,586 (GRCm39)	A510T	probably benign	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Naca	T	G	10: 127,879,785 (GRCm39)		probably benign	Het
Or51f5	A	T	7: 102,423,883 (GRCm39)	I51F	probably damaging	Het
Or52l1	T	C	7: 104,829,917 (GRCm39)	Y216C	probably damaging	Het
Or6c69	T	A	10: 129,747,536 (GRCm39)	T204S	probably damaging	Het
Pcm1	T	A	8: 41,783,862 (GRCm39)	M1986K	probably damaging	Het
Pex6	T	A	17: 47,023,034 (GRCm39)	D203E	probably benign	Het
Rlbp1	T	C	7: 79,029,876 (GRCm39)	N119S	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Rusc1	T	A	3: 88,999,048 (GRCm39)	T245S	probably benign	Het
Slc26a5	A	T	5: 22,026,095 (GRCm39)	C378S	probably damaging	Het
Smtn	A	G	11: 3,477,624 (GRCm39)		probably benign	Het
Tes3-ps	T	C	13: 49,647,516 (GRCm39)	C131R	probably damaging	Het
Thbs4	T	C	13: 92,911,190 (GRCm39)	E331G	probably null	Het
Tlr4	T	C	4: 66,758,832 (GRCm39)	Y542H	probably benign	Het
Trf	G	A	9: 103,107,504 (GRCm39)		probably benign	Het
Trim75	T	A	8: 65,435,748 (GRCm39)	H234L	probably benign	Het
Zan	T	G	5: 137,466,605 (GRCm39)	R417S	probably damaging	Het
Zfp213	T	C	17: 23,776,996 (GRCm39)	T349A	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het

Other mutations in Lactbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Lactbl1	APN	4	136,358,362 (GRCm39)	missense	probably damaging	1.00
R1592:Lactbl1	UTSW	4	136,363,187 (GRCm39)	splice site	probably null
R2869:Lactbl1	UTSW	4	136,354,097 (GRCm39)	missense	probably damaging	1.00
R2869:Lactbl1	UTSW	4	136,354,097 (GRCm39)	missense	probably damaging	1.00
R2874:Lactbl1	UTSW	4	136,354,097 (GRCm39)	missense	probably damaging	1.00
R3844:Lactbl1	UTSW	4	136,365,271 (GRCm39)	missense	possibly damaging	0.91
R4375:Lactbl1	UTSW	4	136,364,902 (GRCm39)	missense	possibly damaging	0.90
R5185:Lactbl1	UTSW	4	136,358,356 (GRCm39)	missense	probably benign	0.00
R6544:Lactbl1	UTSW	4	136,360,300 (GRCm39)	missense	possibly damaging	0.69
R7028:Lactbl1	UTSW	4	136,360,286 (GRCm39)	missense	probably damaging	1.00
R7476:Lactbl1	UTSW	4	136,364,950 (GRCm39)	missense	probably benign	0.01
R7779:Lactbl1	UTSW	4	136,358,307 (GRCm39)	nonsense	probably null
R8782:Lactbl1	UTSW	4	136,358,329 (GRCm39)	missense	possibly damaging	0.78
R8915:Lactbl1	UTSW	4	136,360,243 (GRCm39)	missense	probably benign	0.39

Predicted Primers

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

Sequencing Primer
(F):5'- TACACCCTGGGAGTTCCAC -3'
(R):5'- AGCTGAACACTGGCCTGC -3'

Posted On

2018-02-28