Mutagenetix > Incidental Mutation

Incidental Mutation 'R4436:Ikbip'

329535

Institutional Source

Beutler Lab

Gene Symbol

Ikbip

Ensembl Gene

ENSMUSG00000019975

Gene Name

IKBKB interacting protein

Synonyms

1200009F10Rik, 1700023M03Rik

MMRRC Submission

041702-MU

Accession Numbers

Essential gene?

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

Stock #

R4436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90918802-90938469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90937751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 141 (N141K)

Ref Sequence

ENSEMBL: ENSMUSP00000020150 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020149

SMART Domains

Protein: ENSMUSP00000020149
Gene: ENSMUSG00000019975

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 damaging
Transcript: ENSMUST00000020150
AA Change: N141K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020150
Gene: ENSMUSG00000019975
AA Change: N141K

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: ENSMUST00000130682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211056

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,248,768 (GRCm39)	I779V	possibly damaging	Het
Asap1	T	G	15: 64,221,692 (GRCm39)	D15A	probably benign	Het
Ascc2	A	G	11: 4,606,305 (GRCm39)	D193G	probably damaging	Het
Bcl2a1d	A	T	9: 88,613,753 (GRCm39)	M7K	probably benign	Het
Ccdc168	T	C	1: 44,095,276 (GRCm39)	I1941V	probably benign	Het
Ccdc85a	T	C	11: 28,526,457 (GRCm39)	T384A	probably benign	Het
Cd86	T	C	16: 36,441,194 (GRCm39)	N91S	probably benign	Het
Cdk17	T	A	10: 93,047,758 (GRCm39)		probably null	Het
Cemip	T	C	7: 83,636,637 (GRCm39)	D332G	probably null	Het
Ces2f	G	A	8: 105,679,788 (GRCm39)	R427H	probably benign	Het
Clec4a2	G	A	6: 123,105,013 (GRCm39)		probably null	Het
Coa8	T	A	12: 111,717,642 (GRCm39)	D167E	probably benign	Het
Coq9	T	C	8: 95,579,743 (GRCm39)	F198L	probably benign	Het
Ddx24	C	A	12: 103,390,233 (GRCm39)	A253S	probably damaging	Het
Esyt3	A	T	9: 99,240,078 (GRCm39)		probably benign	Het
Fat2	C	A	11: 55,187,024 (GRCm39)	G1274V	probably damaging	Het
Ggn	A	T	7: 28,870,976 (GRCm39)	T132S	probably damaging	Het
Gm11568	T	A	11: 99,749,421 (GRCm39)	C209S	unknown	Het
Gm6931	T	A	16: 49,245,225 (GRCm39)		noncoding transcript	Het
Gpr20	C	T	15: 73,567,649 (GRCm39)	V247I	probably benign	Het
Grm8	A	T	6: 27,761,237 (GRCm39)	V329E	possibly damaging	Het
Gtf2ird2	T	C	5: 134,223,808 (GRCm39)	L114P	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hivep3	C	T	4: 119,953,120 (GRCm39)	P479S	probably benign	Het
Igkv6-20	A	G	6: 70,313,104 (GRCm39)	V23A	probably damaging	Het
Irag1	T	C	7: 110,476,124 (GRCm39)	E815G	probably damaging	Het
Krt77	A	T	15: 101,773,904 (GRCm39)	V250E	probably damaging	Het
Ltn1	A	T	16: 87,202,502 (GRCm39)	C1050S	probably benign	Het
Macf1	T	C	4: 123,421,135 (GRCm39)	I40V	probably benign	Het
Or2h2b-ps1	A	G	17: 37,480,727 (GRCm39)	F271L	probably benign	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Pi4ka	T	C	16: 17,100,246 (GRCm39)	M1885V	probably damaging	Het
Plek	A	G	11: 16,942,972 (GRCm39)	Y107H	probably damaging	Het
Ppp1r15a	C	T	7: 45,174,203 (GRCm39)	V202M	probably damaging	Het
Ppp1r3e	C	A	14: 55,114,007 (GRCm39)	A222S	probably benign	Het
Rac2	G	T	15: 78,454,943 (GRCm39)	Y32*	probably null	Het
Sdf4	T	G	4: 156,093,404 (GRCm39)		probably null	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Spic	T	A	10: 88,512,817 (GRCm39)	R111S	probably benign	Het
Ssh3	A	G	19: 4,315,394 (GRCm39)	F315L	probably damaging	Het
Ttn	T	C	2: 76,595,253 (GRCm39)	K11972R	probably damaging	Het
Tubd1	C	T	11: 86,439,745 (GRCm39)	S30F	probably benign	Het
Vmn1r17	G	C	6: 57,337,719 (GRCm39)	I166M	possibly damaging	Het
Vmn2r94	T	C	17: 18,478,645 (GRCm39)	Y34C	probably damaging	Het
Xpo7	G	A	14: 70,906,869 (GRCm39)	T945M	probably damaging	Het
Zfp316	C	A	5: 143,239,803 (GRCm39)	A739S	probably damaging	Het
Zswim3	T	A	2: 164,662,563 (GRCm39)	C348S	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
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

Predicted Primers

PCR Primer
(F):5'- CCATAAAGAGCTGTAAACTCATAAGGG -3'
(R):5'- TTATTCCCCAGGGCTTGCAC -3'

Sequencing Primer
(F):5'- GAGGAAAACACATGCAATCTGAATTC -3'
(R):5'- CACGGCATCTGTTAGTGATTCGAC -3'

Posted On

2015-07-21