Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03116:Pbsn'

419417

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pbsn

Ensembl Gene

ENSMUSG00000000003

Gene Name

probasin

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03116

Quality Score

Status

Chromosome

Chromosomal Location

76881504-76897106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76891624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 58 (C58R)

Ref Sequence

ENSEMBL: ENSMUSP00000000003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000003] [ENSMUST00000114041]

AlphaFold

O08976

Predicted Effect

probably damaging
Transcript: ENSMUST00000000003
AA Change: C58R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000003
Gene: ENSMUSG00000000003
AA Change: C58R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Lipocalin	27	166	1.9e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114041
AA Change: C58R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109675
Gene: ENSMUSG00000000003
AA Change: C58R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Lipocalin	27	94	4.2e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810030O07Rik	T	C	X: 12,535,892 (GRCm39)		probably benign	Het
9530068E07Rik	A	G	11: 52,294,331 (GRCm39)	I199V	probably benign	Het
Aasdh	A	T	5: 77,049,936 (GRCm39)		probably null	Het
Aatk	T	C	11: 119,907,577 (GRCm39)	I84V	probably benign	Het
Adcy1	A	G	11: 7,100,071 (GRCm39)	H727R	probably benign	Het
Aff2	T	C	X: 68,878,092 (GRCm39)	V626A	probably benign	Het
Ano2	C	A	6: 125,957,134 (GRCm39)	Y634*	probably null	Het
Apob	C	A	12: 8,066,350 (GRCm39)	Q4407K	probably damaging	Het
Asz1	T	C	6: 18,076,642 (GRCm39)		probably benign	Het
Atp2b4	T	G	1: 133,656,506 (GRCm39)	T715P	possibly damaging	Het
Brip1	G	T	11: 85,955,735 (GRCm39)	S926*	probably null	Het
Cpd	A	T	11: 76,702,539 (GRCm39)	Y610N	probably damaging	Het
Dennd4c	T	C	4: 86,707,057 (GRCm39)		probably benign	Het
Dido1	G	A	2: 180,312,772 (GRCm39)	T1041I	probably damaging	Het
Dpp8	A	T	9: 64,973,749 (GRCm39)	T658S	probably damaging	Het
Efcab3	T	A	11: 104,612,359 (GRCm39)	S661T	probably benign	Het
Fcer1a	G	A	1: 173,049,128 (GRCm39)	Q172*	probably null	Het
Frem3	A	G	8: 81,339,435 (GRCm39)	E576G	possibly damaging	Het
Gcsam	T	C	16: 45,440,431 (GRCm39)	F136S	possibly damaging	Het
Glmn	T	G	5: 107,698,949 (GRCm39)	T430P	probably damaging	Het
Gm5934	T	C	X: 24,340,931 (GRCm39)	N194S	probably benign	Het
Gpatch11	T	A	17: 79,151,282 (GRCm39)	L231*	probably null	Het
Hibadh	A	T	6: 52,525,917 (GRCm39)	N244K	probably damaging	Het
Kank2	A	G	9: 21,684,060 (GRCm39)	V723A	probably damaging	Het
Kcnn2	A	T	18: 45,788,273 (GRCm39)	D192V	probably damaging	Het
Ksr2	G	A	5: 117,846,022 (GRCm39)	E630K	probably benign	Het
Lmod3	T	C	6: 97,224,156 (GRCm39)	H555R	possibly damaging	Het
Mycs	A	G	X: 5,380,922 (GRCm39)	F53L	probably damaging	Het
Ndufa10	G	A	1: 92,392,109 (GRCm39)	Q215*	probably null	Het
Ninl	C	T	2: 150,806,139 (GRCm39)	A361T	probably damaging	Het
Pcsk1	T	A	13: 75,280,335 (GRCm39)	L720Q	probably damaging	Het
Prss12	T	C	3: 123,299,925 (GRCm39)	F679L	probably benign	Het
Sohlh1	C	T	2: 25,735,660 (GRCm39)		probably null	Het
Sspo	T	C	6: 48,471,035 (GRCm39)	F701L	probably benign	Het
Tdp1	T	C	12: 99,921,290 (GRCm39)	S609P	probably benign	Het
Tmtc4	T	A	14: 123,165,044 (GRCm39)	N605I	probably benign	Het
Tnc	G	A	4: 63,932,270 (GRCm39)	P715S	probably damaging	Het
Ubn2	T	C	6: 38,468,834 (GRCm39)	S1181P	probably damaging	Het
Ubr4	T	C	4: 139,206,892 (GRCm39)		probably benign	Het
Vmn1r46	T	C	6: 89,953,898 (GRCm39)	F249S	probably benign	Het
Zfp382	T	C	7: 29,833,614 (GRCm39)	S422P	probably damaging	Het

Other mutations in Pbsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Pbsn	APN	X	76,886,177 (GRCm39)	missense	probably benign	0.42
IGL02401:Pbsn	APN	X	76,886,129 (GRCm39)	missense	probably benign	0.08
R0569:Pbsn	UTSW	X	76,897,046 (GRCm39)	missense	possibly damaging	0.62
R2058:Pbsn	UTSW	X	76,891,582 (GRCm39)	missense	probably damaging	1.00
R2059:Pbsn	UTSW	X	76,891,582 (GRCm39)	missense	probably damaging	1.00
R3935:Pbsn	UTSW	X	76,891,702 (GRCm39)	missense	probably damaging	1.00
R3936:Pbsn	UTSW	X	76,891,702 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02