Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02060:Igbp1b'

185389

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 #

IGL02060

Quality Score

Status

Chromosome

Chromosomal Location

138634087-138635452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 138634982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 154 (A154E)

Ref Sequence

ENSEMBL: ENSMUSP00000050818 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000054786
AA Change: A154E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050818
Gene: ENSMUSG00000046717
AA Change: A154E

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 90,852,603 (GRCm39)	I178F	probably damaging	Het
Aff1	T	C	5: 103,931,715 (GRCm39)	V111A	possibly damaging	Het
Aox1	T	G	1: 58,137,114 (GRCm39)	I1168R	possibly damaging	Het
Atf6	T	C	1: 170,646,989 (GRCm39)	R295G	probably damaging	Het
Blm	C	A	7: 80,164,328 (GRCm39)		probably benign	Het
Cse1l	A	T	2: 166,772,573 (GRCm39)	L413F	probably damaging	Het
Dip2c	T	C	13: 9,672,666 (GRCm39)	V1024A	probably damaging	Het
Fam13c	A	T	10: 70,388,971 (GRCm39)	E498V	probably damaging	Het
Fat4	A	G	3: 39,064,420 (GRCm39)	E4792G	probably damaging	Het
Gramd1a	A	T	7: 30,829,996 (GRCm39)	L151*	probably null	Het
Itga9	A	G	9: 118,490,500 (GRCm39)	K277R	probably damaging	Het
Klra10	T	C	6: 130,249,688 (GRCm39)	Y199C	probably damaging	Het
Lgalsl2	A	G	7: 5,362,563 (GRCm39)	T65A	probably damaging	Het
Mospd3	T	C	5: 137,598,266 (GRCm39)	Y85C	probably damaging	Het
Nol6	C	T	4: 41,117,700 (GRCm39)	A887T	probably damaging	Het
Or4a27	A	T	2: 88,559,907 (GRCm39)	F12Y	probably damaging	Het
Or4z4	A	G	19: 12,076,824 (GRCm39)	Y60H	probably damaging	Het
Or5p57	G	T	7: 107,665,878 (GRCm39)	F42L	probably benign	Het
Or9g4	C	T	2: 85,505,178 (GRCm39)	V106I	probably benign	Het
Pcdhb17	A	G	18: 37,619,469 (GRCm39)	T420A	probably damaging	Het
Pgghg	T	C	7: 140,526,546 (GRCm39)	V646A	probably benign	Het
Prkg2	A	G	5: 99,172,374 (GRCm39)	S114P	probably benign	Het
Rela	G	T	19: 5,688,628 (GRCm39)	K28N	probably damaging	Het
Rhbdf2	G	T	11: 116,491,452 (GRCm39)	A598E	probably damaging	Het
Ryr2	C	T	13: 11,762,450 (GRCm39)	D1454N	probably damaging	Het
Sdk1	C	T	5: 141,938,767 (GRCm39)	L397F	possibly damaging	Het
Sh3pxd2a	C	T	19: 47,361,817 (GRCm39)		probably benign	Het
Slc9a2	T	A	1: 40,795,453 (GRCm39)	V518E	probably damaging	Het
Slco1a7	T	A	6: 141,700,134 (GRCm39)	M133L	probably benign	Het
Snapc1	A	G	12: 74,014,810 (GRCm39)	Y105C	probably damaging	Het
Sult2a8	A	G	7: 14,159,326 (GRCm39)	S98P	probably damaging	Het
Tmem30c	T	A	16: 57,111,261 (GRCm39)	M4L	probably benign	Het
Trim71	T	C	9: 114,342,321 (GRCm39)	I654V	possibly damaging	Het
Uroc1	A	G	6: 90,315,237 (GRCm39)	S133G	probably benign	Het
Vmn2r100	A	G	17: 19,741,516 (GRCm39)	N76S	possibly damaging	Het
Zcchc14	T	C	8: 122,330,634 (GRCm39)	S910G	probably damaging	Het

Other mutations in Igbp1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Igbp1b	APN	6	138,634,533 (GRCm39)	missense	probably benign	0.25
IGL02014:Igbp1b	APN	6	138,634,601 (GRCm39)	missense	probably benign	0.03
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

2014-05-07