Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02949:Mblac1'

364880

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mblac1

Ensembl Gene

ENSMUSG00000049285

Gene Name

metallo-beta-lactamase domain containing 1

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.479) question?

Stock #

IGL02949

Quality Score

Status

Chromosome

Chromosomal Location

138192576-138193883 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138193119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 154 (C154S)

Ref Sequence

ENSEMBL: ENSMUSP00000052869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057773] [ENSMUST00000110932] [ENSMUST00000110934]

AlphaFold

Q8BWY4

Predicted Effect

probably benign
Transcript: ENSMUST00000057773
AA Change: C154S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000052869
Gene: ENSMUSG00000049285
AA Change: C154S

Domain	Start	End	E-Value	Type
Lactamase_B	70	235	4.04e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110932

SMART Domains

Protein: ENSMUSP00000106557
Gene: ENSMUSG00000036968

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:DUF3456	32	160	9.5e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110934

SMART Domains

Protein: ENSMUSP00000106559
Gene: ENSMUSG00000036968

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:DUF3456	43	202	3.4e-51	PFAM
low complexity region	218	230	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130126

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,344,490 (GRCm39)	V89I	probably damaging	Het
Abhd5	T	C	9: 122,206,980 (GRCm39)	F89L	possibly damaging	Het
Akr1c13	T	A	13: 4,248,593 (GRCm39)	V266E	probably damaging	Het
B4galt2	C	T	4: 117,738,602 (GRCm39)	A72T	probably benign	Het
Ccdc141	T	C	2: 76,857,938 (GRCm39)	Y1081C	probably damaging	Het
Coq8b	T	C	7: 26,956,038 (GRCm39)	V405A	possibly damaging	Het
Ddah2	A	G	17: 35,280,776 (GRCm39)	K251E	probably damaging	Het
Dnah5	T	C	15: 28,272,331 (GRCm39)	V1045A	probably benign	Het
Dpy19l1	A	T	9: 24,332,476 (GRCm39)	M662K	probably benign	Het
Dpys	A	G	15: 39,690,279 (GRCm39)	V358A	probably damaging	Het
H2-D1	A	G	17: 35,483,064 (GRCm39)	N198S	probably benign	Het
Hnrnpa1	T	C	15: 103,150,538 (GRCm39)	V163A	probably damaging	Het
Hr	C	T	14: 70,797,225 (GRCm39)	R543C	possibly damaging	Het
Lct	C	T	1: 128,240,869 (GRCm39)	V245M	probably benign	Het
Lpl	G	A	8: 69,345,400 (GRCm39)	V135M	probably damaging	Het
Mmp9	T	C	2: 164,793,039 (GRCm39)	F396S	probably damaging	Het
Mroh1	A	T	15: 76,293,168 (GRCm39)	H314L	probably damaging	Het
Msantd4	T	A	9: 4,385,196 (GRCm39)	L307Q	probably damaging	Het
Nol8	A	G	13: 49,815,878 (GRCm39)	D662G	probably benign	Het
Nynrin	G	A	14: 56,109,837 (GRCm39)	S1648N	probably damaging	Het
Or52a20	A	G	7: 103,366,427 (GRCm39)	I209V	probably benign	Het
Plcb2	C	T	2: 118,549,590 (GRCm39)		probably null	Het
Scyl2	T	A	10: 89,496,163 (GRCm39)	N229I	possibly damaging	Het
Spryd3	C	T	15: 102,026,544 (GRCm39)	E376K	probably benign	Het
Srr	T	G	11: 74,799,563 (GRCm39)	E304A	probably benign	Het
Srsf1	A	G	11: 87,940,352 (GRCm39)		probably benign	Het
Txnrd2	T	G	16: 18,296,456 (GRCm39)	S473A	probably benign	Het
Wdr18	T	A	10: 79,800,889 (GRCm39)	C151S	probably benign	Het
Zfp282	C	T	6: 47,874,848 (GRCm39)	T351I	probably damaging	Het

Other mutations in Mblac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Mblac1	APN	5	138,193,036 (GRCm39)	missense	possibly damaging	0.93
R6744_Mblac1_778	UTSW	5	138,192,682 (GRCm39)	missense	possibly damaging	0.71
R0048:Mblac1	UTSW	5	138,192,727 (GRCm39)	missense	probably damaging	1.00
R0542:Mblac1	UTSW	5	138,192,798 (GRCm39)	missense	possibly damaging	0.75
R5340:Mblac1	UTSW	5	138,192,840 (GRCm39)	missense	probably damaging	1.00
R5481:Mblac1	UTSW	5	138,193,078 (GRCm39)	missense	probably damaging	1.00
R6744:Mblac1	UTSW	5	138,192,682 (GRCm39)	missense	possibly damaging	0.71
R7699:Mblac1	UTSW	5	138,192,919 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18