Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01292:Igbp1b'

72938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igbp1b

Ensembl Gene

ENSMUSG00000046717

Gene Name

immunoglobulin (CD79A) binding protein 1b

Synonyms

alpha4-b

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

IGL01292

Quality Score

Status

Chromosome

Chromosomal Location

138634087-138635452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 138634533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 304 (E304K)

Ref Sequence

ENSEMBL: ENSMUSP00000050818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054786]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000054786
AA Change: E304K

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000050818
Gene: ENSMUSG00000046717
AA Change: E304K

Domain	Start	End	E-Value	Type
Pfam:TAP42	13	333	1.3e-85	PFAM

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
3425401B19Rik	T	C	14: 32,382,831 (GRCm39)	S1045G	probably benign	Het
Aak1	T	C	6: 86,926,520 (GRCm39)		probably benign	Het
Car15	A	G	16: 17,653,393 (GRCm39)	F258S	probably damaging	Het
Cpd	A	G	11: 76,737,071 (GRCm39)	I241T	possibly damaging	Het
Dchs1	T	C	7: 105,410,098 (GRCm39)	D1758G	probably damaging	Het
Dnaaf11	A	T	15: 66,353,082 (GRCm39)		probably benign	Het
Eogt	T	A	6: 97,120,988 (GRCm39)	N75I	possibly damaging	Het
Eps8l1	T	C	7: 4,481,919 (GRCm39)		probably benign	Het
Gdpd4	T	C	7: 97,664,161 (GRCm39)		probably benign	Het
Ighv1-63	A	G	12: 115,459,478 (GRCm39)	S40P	probably damaging	Het
Intu	T	C	3: 40,618,696 (GRCm39)	V234A	probably benign	Het
Mars1	A	T	10: 127,141,387 (GRCm39)	I334N	probably damaging	Het
Morc2a	C	A	11: 3,638,175 (GRCm39)	A967D	probably damaging	Het
Mtrf1l	A	T	10: 5,764,090 (GRCm39)	M291K	probably benign	Het
Muc19	A	G	15: 91,778,470 (GRCm39)		noncoding transcript	Het
Myl3	A	T	9: 110,597,045 (GRCm39)	D135V	probably damaging	Het
Myt1	T	A	2: 181,446,805 (GRCm39)	L537M	probably damaging	Het
Ndst4	A	G	3: 125,232,403 (GRCm39)	D324G	probably damaging	Het
Plce1	T	A	19: 38,640,229 (GRCm39)		probably benign	Het
Prkab1	A	T	5: 116,162,169 (GRCm39)	F47Y	probably damaging	Het
Prkag2	C	T	5: 25,226,963 (GRCm39)	S98N	probably benign	Het
Rasgef1a	T	A	6: 118,057,344 (GRCm39)	V15D	possibly damaging	Het
Scgb1b19	T	A	7: 32,987,051 (GRCm39)	C67*	probably null	Het
Slc25a15	T	C	8: 22,880,052 (GRCm39)	D31G	possibly damaging	Het
Slc4a11	C	T	2: 130,532,752 (GRCm39)		probably null	Het
Snx15	A	T	19: 6,169,915 (GRCm39)	M331K	probably benign	Het
Tsks	T	C	7: 44,601,982 (GRCm39)	Y224H	probably damaging	Het
Ufd1	T	C	16: 18,639,864 (GRCm39)	S123P	probably damaging	Het
Xpnpep3	T	G	15: 81,311,699 (GRCm39)	V135G	probably damaging	Het

Other mutations in Igbp1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02014:Igbp1b	APN	6	138,634,601 (GRCm39)	missense	probably benign	0.03
IGL02060:Igbp1b	APN	6	138,634,982 (GRCm39)	missense	probably damaging	1.00
R0101:Igbp1b	UTSW	6	138,634,658 (GRCm39)	missense	probably damaging	1.00
R0254:Igbp1b	UTSW	6	138,635,201 (GRCm39)	missense	probably damaging	0.99
R1532:Igbp1b	UTSW	6	138,635,442 (GRCm39)	start codon destroyed	possibly damaging	0.93
R2359:Igbp1b	UTSW	6	138,634,713 (GRCm39)	missense	probably damaging	1.00
R2411:Igbp1b	UTSW	6	138,634,871 (GRCm39)	missense	probably damaging	1.00
R2484:Igbp1b	UTSW	6	138,634,492 (GRCm39)	missense	probably benign	0.00
R4552:Igbp1b	UTSW	6	138,635,112 (GRCm39)	missense	probably benign
R4795:Igbp1b	UTSW	6	138,634,803 (GRCm39)	missense	probably benign	0.11
R4818:Igbp1b	UTSW	6	138,634,803 (GRCm39)	missense	probably benign	0.11
R6033:Igbp1b	UTSW	6	138,635,207 (GRCm39)	missense	probably damaging	0.99
R6033:Igbp1b	UTSW	6	138,635,207 (GRCm39)	missense	probably damaging	0.99
R7264:Igbp1b	UTSW	6	138,635,108 (GRCm39)	missense	possibly damaging	0.89
R7949:Igbp1b	UTSW	6	138,635,414 (GRCm39)	missense	probably benign	0.12

Posted On

2013-10-07