Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01559:Csn1s2b'

90796

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Csn1s2b

Ensembl Gene

ENSMUSG00000061388

Gene Name

casein alpha s2-like B

Synonyms

Csnd, Csne

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01559

Quality Score

Status

Chromosome

Chromosomal Location

87808082-87824426 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 87820951 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 80 (K80*)

Ref Sequence

ENSEMBL: ENSMUSP00000142449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002310] [ENSMUST00000072539] [ENSMUST00000101056] [ENSMUST00000101057] [ENSMUST00000113279] [ENSMUST00000197301]

Predicted Effect

probably benign
Transcript: ENSMUST00000002310

SMART Domains

Protein: ENSMUSP00000002310
Gene: ENSMUSG00000002240

Domain	Start	End	E-Value	Type
low complexity region	49	57	N/A	INTRINSIC
low complexity region	104	130	N/A	INTRINSIC
low complexity region	137	153	N/A	INTRINSIC
low complexity region	179	194	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000072539
AA Change: K91*

SMART Domains

Protein: ENSMUSP00000072352
Gene: ENSMUSG00000061388
AA Change: K91*

Domain	Start	End	E-Value	Type
Pfam:Casein	58	136	4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101056

SMART Domains

Protein: ENSMUSP00000098617
Gene: ENSMUSG00000002240

Domain	Start	End	E-Value	Type
low complexity region	57	65	N/A	INTRINSIC
low complexity region	112	138	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	187	202	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101057

Predicted Effect

probably null
Transcript: ENSMUST00000113279
AA Change: K86*

SMART Domains

Protein: ENSMUSP00000108904
Gene: ENSMUSG00000061388
AA Change: K86*

Domain	Start	End	E-Value	Type
Pfam:Casein	55	133	5.1e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000197301
AA Change: K80*

SMART Domains

Protein: ENSMUSP00000142449
Gene: ENSMUSG00000061388
AA Change: K80*

Domain	Start	End	E-Value	Type
Pfam:Casein	45	127	7.2e-15	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the alpha-s2-like casein gene family, and this gene product is a calcium-sensitive casein. Members of this gene family are organized as a gene cluster that is conserved in its order, but with greater conservation amongst orthologs than paralogs. The protein encoded by this gene interacts with other casein proteins to form a micelle structure, and is a major source of protein in milk. This structure is important for the transport of calcium, phosphate, and protein. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,309,020	N2915K	possibly damaging	Het
Abca5	T	C	11: 110,272,526	N1621S	probably benign	Het
Asb18	G	A	1: 89,954,450	S122F	probably damaging	Het
Atg4c	A	G	4: 99,218,203		probably benign	Het
Bbs7	T	C	3: 36,594,510	Y363C	probably damaging	Het
Celsr2	T	C	3: 108,406,867	T1281A	possibly damaging	Het
Cers1	A	G	8: 70,323,233	N295S	probably damaging	Het
Dennd6a	A	G	14: 26,608,565	D97G	probably damaging	Het
Dmxl1	A	G	18: 49,920,938	Y2537C	probably damaging	Het
Dnah6	A	G	6: 73,024,252		probably null	Het
Exoc4	A	G	6: 33,266,076	T75A	probably damaging	Het
Fbll1	T	C	11: 35,797,545	E297G	probably damaging	Het
Gm10642	T	A	9: 70,656,592	D152V	probably damaging	Het
Hdac3	A	G	18: 37,943,672		probably benign	Het
Kif17	A	G	4: 138,293,769	I850V	probably damaging	Het
Olfr166	T	C	16: 19,487,459	L207P	probably benign	Het
Pi4kb	T	A	3: 94,984,129	L52Q	probably benign	Het
Sec14l1	C	A	11: 117,143,284		probably null	Het
Slc28a2	T	A	2: 122,454,540	H336Q	probably damaging	Het
Usp17lb	A	G	7: 104,841,229	S164P	probably damaging	Het

Other mutations in Csn1s2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01704:Csn1s2b	APN	5	87813111	missense	probably damaging	1.00
IGL01785:Csn1s2b	APN	5	87809913	missense	possibly damaging	0.91
IGL02689:Csn1s2b	APN	5	87809921	missense	probably benign	0.41
R1596:Csn1s2b	UTSW	5	87819058	splice site	probably benign
R1649:Csn1s2b	UTSW	5	87819084	missense	probably benign	0.07
R1682:Csn1s2b	UTSW	5	87822303	missense	probably damaging	0.98
R1747:Csn1s2b	UTSW	5	87816670	splice site	probably benign
R3123:Csn1s2b	UTSW	5	87819058	splice site	probably benign
R4667:Csn1s2b	UTSW	5	87822311	missense	possibly damaging	0.53
R4781:Csn1s2b	UTSW	5	87819093	missense	possibly damaging	0.77
R4965:Csn1s2b	UTSW	5	87813961	missense	possibly damaging	0.81
R6013:Csn1s2b	UTSW	5	87824239	splice site	probably null
R6730:Csn1s2b	UTSW	5	87822268	missense	probably benign	0.00
R8028:Csn1s2b	UTSW	5	87819092	missense	probably benign	0.01

Posted On

2013-12-09