Mutagenetix > Incidental Mutation

Incidental Mutation 'R7595:Ikbip'

587684

Institutional Source

Beutler Lab

Gene Symbol

Ikbip

Ensembl Gene

ENSMUSG00000019975

Gene Name

IKBKB interacting protein

Synonyms

1200009F10Rik, 1700023M03Rik

MMRRC Submission

045640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7595 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90918802-90938469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90932447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 364 (S364G)

Ref Sequence

ENSEMBL: ENSMUSP00000020149 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020149
AA Change: S364G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020149
Gene: ENSMUSG00000019975
AA Change: S364G

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Adamts16	A	G	13: 70,878,234 (GRCm39)	F1177S	probably damaging	Het
Alox12	T	A	11: 70,133,230 (GRCm39)	E658V	probably damaging	Het
Anxa6	C	A	11: 54,875,911 (GRCm39)	V591L	probably benign	Het
Atp6ap1l	A	T	13: 91,039,135 (GRCm39)	S141T	probably damaging	Het
Bcar1	A	C	8: 112,447,625 (GRCm39)	N117K	probably benign	Het
Cdh22	A	G	2: 164,954,383 (GRCm39)	S713P	probably benign	Het
Cideb	T	C	14: 55,992,261 (GRCm39)	D144G	probably damaging	Het
Coch	T	A	12: 51,645,016 (GRCm39)	V190D	probably damaging	Het
Cyp4a12a	C	A	4: 115,189,089 (GRCm39)	L473M	probably damaging	Het
Dennd1c	A	C	17: 57,378,633 (GRCm39)	L331R	probably damaging	Het
Dthd1	A	G	5: 62,976,058 (GRCm39)	D244G	probably benign	Het
Dytn	T	C	1: 63,698,161 (GRCm39)	E282G	probably damaging	Het
Eml4	A	G	17: 83,763,513 (GRCm39)	Q576R	probably benign	Het
Fa2h	T	A	8: 112,082,122 (GRCm39)	I175F	probably benign	Het
Fv1	A	G	4: 147,954,627 (GRCm39)	T398A	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm5592	A	G	7: 40,935,867 (GRCm39)	D123G	probably damaging	Het
Golph3l	A	G	3: 95,517,094 (GRCm39)	T201A	probably benign	Het
Kcnc3	G	A	7: 44,240,893 (GRCm39)	R195H	probably damaging	Het
Kdm5b	T	A	1: 134,536,704 (GRCm39)	D641E	probably benign	Het
Kif26a	C	T	12: 112,145,759 (GRCm39)	P1757S	probably benign	Het
Klf14	T	C	6: 30,935,475 (GRCm39)	K53R	probably benign	Het
Klk1b4	A	G	7: 43,860,132 (GRCm39)	D82G	probably benign	Het
Ly75	A	G	2: 60,124,171 (GRCm39)	F1702S	probably benign	Het
Mfsd4b1	A	T	10: 39,879,221 (GRCm39)	Y225*	probably null	Het
Or8g20	A	C	9: 39,395,611 (GRCm39)	F313V	probably benign	Het
Pcsk4	T	A	10: 80,157,935 (GRCm39)	D601V	possibly damaging	Het
Pkhd1l1	T	A	15: 44,358,917 (GRCm39)	D375E	probably damaging	Het
Primpol	A	G	8: 47,063,650 (GRCm39)	L2S	probably benign	Het
Ralgapb	G	A	2: 158,268,085 (GRCm39)	V63I	possibly damaging	Het
Rptor	T	A	11: 119,634,779 (GRCm39)	N198K	possibly damaging	Het
Samd5	T	C	10: 9,504,738 (GRCm39)	N172S	probably benign	Het
Sorbs1	A	T	19: 40,303,097 (GRCm39)	H542Q	probably damaging	Het
Spopfm1	A	G	3: 94,173,985 (GRCm39)	E327G	probably benign	Het
Spopfm3	A	G	3: 94,105,724 (GRCm39)	D14G	probably benign	Het
Srgn	T	A	10: 62,343,785 (GRCm39)		probably benign	Het
Taar6	C	T	10: 23,860,968 (GRCm39)	V193I	probably benign	Het
Tmem132a	G	A	19: 10,835,569 (GRCm39)	A987V	probably damaging	Het
Trank1	T	C	9: 111,195,059 (GRCm39)	Y1028H	probably damaging	Het
Ttc21a	T	C	9: 119,787,135 (GRCm39)	L714P	probably benign	Het
Wdfy4	C	T	14: 32,696,111 (GRCm39)		probably null	Het
Zswim9	T	C	7: 12,994,998 (GRCm39)	D386G	probably benign	Het
Zwilch	A	G	9: 64,056,546 (GRCm39)		probably benign	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
IGL02166:Ikbip	APN	10	90,931,652 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- TCTCAGGATCTGATAGGGACAG -3'
(R):5'- AGATGCATACTCCATATGGCG -3'

Sequencing Primer
(F):5'- CTGACGATGCAGATGTTCAAC -3'
(R):5'- TAGTGCAGCCCATCAGAA -3'

Posted On

2019-10-24