Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02166:Ikbip'

282719

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ikbip

Ensembl Gene

ENSMUSG00000019975

Gene Name

IKBKB interacting protein

Synonyms

1200009F10Rik, 1700023M03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02166

Quality Score

Status

Chromosome

Chromosomal Location

90918802-90938469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90931652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 99 (S99P)

Ref Sequence

ENSEMBL: ENSMUSP00000020149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020149] [ENSMUST00000020150]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020149
AA Change: S99P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020149
Gene: ENSMUSG00000019975
AA Change: S99P

Domain	Start	End	E-Value	Type
low complexity region	42	58	N/A	INTRINSIC
coiled coil region	80	154	N/A	INTRINSIC
coiled coil region	175	257	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000020150

SMART Domains

Protein: ENSMUSP00000020150
Gene: ENSMUSG00000019975

Domain	Start	End	E-Value	Type
low complexity region	42	58	N/A	INTRINSIC
coiled coil region	89	109	N/A	INTRINSIC
coiled coil region	234	261	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211056

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	A	G	13: 63,163,267 (GRCm39)	H96R	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cdh8	T	C	8: 99,917,083 (GRCm39)	D344G	probably damaging	Het
Ciao3	A	G	17: 25,999,294 (GRCm39)	D236G	possibly damaging	Het
Cltc	T	C	11: 86,594,914 (GRCm39)	I1399V	probably benign	Het
Col4a1	A	T	8: 11,294,509 (GRCm39)		probably benign	Het
Crtc3	C	T	7: 80,327,147 (GRCm39)	G60R	probably damaging	Het
Dscaml1	G	A	9: 45,594,999 (GRCm39)	V701M	probably damaging	Het
Eif3b	T	A	5: 140,425,705 (GRCm39)	C632S	possibly damaging	Het
Ephb3	G	A	16: 21,039,499 (GRCm39)	R417Q	probably damaging	Het
Fpr3	T	C	17: 18,190,726 (GRCm39)		probably benign	Het
Hpdl	A	G	4: 116,678,149 (GRCm39)	V104A	probably damaging	Het
Ighv1-55	T	C	12: 115,171,840 (GRCm39)	S76G	probably benign	Het
Lnpk	T	C	2: 74,360,061 (GRCm39)	E318G	probably damaging	Het
Lrrc66	G	A	5: 73,764,634 (GRCm39)	T803M	probably damaging	Het
Nxf2	C	A	X: 133,857,878 (GRCm39)	W89L	possibly damaging	Het
Or2y11	A	G	11: 49,442,757 (GRCm39)	Y61C	probably damaging	Het
Or5d46	A	T	2: 88,170,022 (GRCm39)	I38F	probably damaging	Het
Or6c3b	T	A	10: 129,527,782 (GRCm39)	I43F	probably benign	Het
Osbp2	A	T	11: 3,667,983 (GRCm39)	C5S	probably damaging	Het
Ovol2	T	C	2: 144,147,650 (GRCm39)	N200S	possibly damaging	Het
Ppp4r1	A	G	17: 66,120,487 (GRCm39)	D207G	probably benign	Het
Prdm11	C	T	2: 92,843,208 (GRCm39)	V84M	probably damaging	Het
Rspo3	T	A	10: 29,411,275 (GRCm39)	E17V	possibly damaging	Het
Scarf2	A	G	16: 17,621,620 (GRCm39)	N357D	probably damaging	Het
Scn9a	A	T	2: 66,323,447 (GRCm39)	D1447E	possibly damaging	Het
Sdad1	G	A	5: 92,439,621 (GRCm39)	T433I	probably benign	Het
Seh1l	A	G	18: 67,918,093 (GRCm39)	N149S	probably damaging	Het
Sigirr	T	C	7: 140,672,140 (GRCm39)	I268M	probably benign	Het
Slc35d2	A	G	13: 64,246,162 (GRCm39)	F282S	probably damaging	Het
Slc4a1	A	T	11: 102,245,159 (GRCm39)	M596K	probably damaging	Het
Spta1	G	A	1: 174,017,797 (GRCm39)	E494K	probably damaging	Het
Stk32b	C	A	5: 37,656,374 (GRCm39)		probably benign	Het
Tex13b	T	C	X: 139,713,475 (GRCm39)	E122G	probably damaging	Het
Tmem35a	A	G	X: 133,205,357 (GRCm39)	N91S	probably damaging	Het
Tmem67	A	G	4: 12,047,313 (GRCm39)	V841A	possibly damaging	Het
Trdv2-1	A	G	14: 54,184,068 (GRCm39)	D100G	probably benign	Het
Tshz3	T	C	7: 36,468,346 (GRCm39)	S112P	probably benign	Het
Tssc4	T	C	7: 142,623,938 (GRCm39)	M82T	probably benign	Het
Ttn	A	G	2: 76,562,723 (GRCm39)	S28744P	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vim	T	C	2: 13,579,405 (GRCm39)	S55P	probably damaging	Het
Zmat5	T	A	11: 4,687,363 (GRCm39)	Y139N	possibly damaging	Het
Zswim2	G	A	2: 83,745,750 (GRCm39)	Q563*	probably null	Het

Other mutations in Ikbip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Ikbip	APN	10	90,929,119 (GRCm39)	critical splice donor site	probably null
IGL02493:Ikbip	APN	10	90,932,456 (GRCm39)	missense	probably damaging	0.99
IGL02591:Ikbip	APN	10	90,932,154 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Ikbip	UTSW	10	90,932,395 (GRCm39)	missense	probably benign	0.02
R1763:Ikbip	UTSW	10	90,932,343 (GRCm39)	missense	probably damaging	1.00
R2031:Ikbip	UTSW	10	90,932,474 (GRCm39)	missense	probably benign
R4436:Ikbip	UTSW	10	90,937,751 (GRCm39)	missense	probably damaging	0.97
R4981:Ikbip	UTSW	10	90,931,848 (GRCm39)	missense	probably benign
R6658:Ikbip	UTSW	10	90,932,181 (GRCm39)	missense	probably benign	0.00
R6671:Ikbip	UTSW	10	90,932,469 (GRCm39)	splice site	probably null
R7109:Ikbip	UTSW	10	90,919,090 (GRCm39)	missense	probably benign	0.00
R7595:Ikbip	UTSW	10	90,932,447 (GRCm39)	missense	probably benign
R7596:Ikbip	UTSW	10	90,918,891 (GRCm39)	unclassified	probably benign
R7840:Ikbip	UTSW	10	90,937,617 (GRCm39)	missense	possibly damaging	0.90
R8278:Ikbip	UTSW	10	90,932,190 (GRCm39)	missense	probably benign	0.00
R8868:Ikbip	UTSW	10	90,932,187 (GRCm39)	missense	possibly damaging	0.53
R8933:Ikbip	UTSW	10	90,919,092 (GRCm39)	missense	probably benign	0.43
R9261:Ikbip	UTSW	10	90,932,249 (GRCm39)	missense	possibly damaging	0.56

Posted On

2015-04-16