Mutagenetix > Incidental Mutation

Incidental Mutation 'R7596:Ikbip'

587731

Institutional Source

Beutler Lab

Gene Symbol

Ikbip

Ensembl Gene

ENSMUSG00000019975

Gene Name

IKBKB interacting protein

Synonyms

1200009F10Rik, 1700023M03Rik

MMRRC Submission

045671-MU

Accession Numbers

Essential gene?

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

Stock #

R7596 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90918802-90938469 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 90918891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020149] [ENSMUST00000020150] [ENSMUST00000020157] [ENSMUST00000159110] [ENSMUST00000160788] [ENSMUST00000161987] [ENSMUST00000162618]

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 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

probably benign
Transcript: ENSMUST00000020157

SMART Domains

Protein: ENSMUSP00000020157
Gene: ENSMUSG00000019979

Domain	Start	End	E-Value	Type
Pfam:CARD	6	90	7.3e-22	PFAM
Pfam:NB-ARC	129	414	1.7e-77	PFAM
WD40	604	643	1.35e-5	SMART
WD40	646	685	1.04e-11	SMART
WD40	688	729	2.98e-7	SMART
WD40	732	771	9.88e-13	SMART
WD40	780	825	1.28e1	SMART
WD40	828	868	1.43e0	SMART
WD40	871	910	3.24e-8	SMART
WD40	952	989	2.57e0	SMART
WD40	992	1031	1.09e-5	SMART
WD40	1033	1071	2.09e-2	SMART
WD40	1074	1113	2.93e-6	SMART
WD40	1116	1155	8.55e-8	SMART
WD40	1168	1204	4.55e-3	SMART
Blast:WD40	1207	1246	5e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000159110

SMART Domains

Protein: ENSMUSP00000125291
Gene: ENSMUSG00000019979

Domain	Start	End	E-Value	Type
Pfam:CARD	6	90	7.4e-21	PFAM
Pfam:NB-ARC	129	414	6.9e-71	PFAM
WD40	604	643	1.35e-5	SMART
WD40	646	685	1.04e-11	SMART
WD40	688	729	2.98e-7	SMART
WD40	732	771	9.88e-13	SMART
WD40	780	825	1.28e1	SMART
WD40	828	868	1.43e0	SMART
WD40	871	910	3.24e-8	SMART
WD40	952	989	2.57e0	SMART
WD40	992	1031	1.09e-5	SMART
WD40	1033	1071	2.09e-2	SMART
WD40	1074	1113	2.93e-6	SMART
WD40	1116	1155	8.55e-8	SMART
WD40	1168	1204	4.55e-3	SMART
Blast:WD40	1207	1246	5e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160788

SMART Domains

Protein: ENSMUSP00000124968
Gene: ENSMUSG00000019979

Domain	Start	End	E-Value	Type
Pfam:CARD	6	90	1e-21	PFAM
Pfam:NB-ARC	129	238	6.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161987

SMART Domains

Protein: ENSMUSP00000124422
Gene: ENSMUSG00000019979

Domain	Start	End	E-Value	Type
Pfam:CARD	6	90	1e-21	PFAM
Pfam:NB-ARC	129	238	6.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162618

SMART Domains

Protein: ENSMUSP00000124134
Gene: ENSMUSG00000019979

Domain	Start	End	E-Value	Type
Pfam:CARD	6	90	1.1e-20	PFAM
Pfam:NB-ARC	118	403	8.8e-72	PFAM
WD40	593	632	1.35e-5	SMART
WD40	635	674	1.04e-11	SMART
WD40	677	718	2.98e-7	SMART
WD40	721	760	9.88e-13	SMART
WD40	769	814	1.28e1	SMART
WD40	817	857	1.43e0	SMART
WD40	860	899	3.24e-8	SMART
WD40	941	978	2.57e0	SMART
WD40	981	1020	1.09e-5	SMART
WD40	1022	1060	2.09e-2	SMART
WD40	1063	1102	2.93e-6	SMART
WD40	1105	1144	8.55e-8	SMART
WD40	1157	1193	4.55e-3	SMART
Blast:WD40	1196	1235	5e-18	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (53/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	A	16: 88,556,224 (GRCm39)	S146N	probably damaging	Het
Adam26b	A	C	8: 43,973,237 (GRCm39)	D588E	probably benign	Het
Ankrd13b	C	A	11: 77,363,140 (GRCm39)	R547L	probably benign	Het
Bckdk	G	T	7: 127,505,572 (GRCm39)	E232*	probably null	Het
C8a	T	C	4: 104,711,064 (GRCm39)	K244E	possibly damaging	Het
Cad	A	G	5: 31,226,392 (GRCm39)	I1145V	probably benign	Het
Cd28	C	A	1: 60,802,487 (GRCm39)	H135Q	possibly damaging	Het
Ceacam19	A	G	7: 19,615,812 (GRCm39)	I209T	possibly damaging	Het
Cecr2	A	G	6: 120,739,167 (GRCm39)	N1298S	probably benign	Het
Cpne5	C	T	17: 29,445,191 (GRCm39)	D38N	possibly damaging	Het
Dcn	A	T	10: 97,345,871 (GRCm39)	I228F	probably damaging	Het
Gm5591	T	G	7: 38,219,608 (GRCm39)	I422L	probably benign	Het
Gnptab	T	G	10: 88,279,232 (GRCm39)	F1201V	probably damaging	Het
Hc	A	G	2: 34,890,859 (GRCm39)	V1319A	probably damaging	Het
Htr3b	T	C	9: 48,847,361 (GRCm39)	N385D	probably benign	Het
Kcnk1	T	C	8: 126,722,350 (GRCm39)	L51P	probably damaging	Het
Lcn2	A	G	2: 32,275,721 (GRCm39)	Y160H	probably damaging	Het
Lig1	T	C	7: 13,039,923 (GRCm39)	S712P	probably damaging	Het
Lrrc19	T	G	4: 94,531,592 (GRCm39)	M7L	probably benign	Het
Lrrc4b	C	T	7: 44,111,310 (GRCm39)	T394M	probably damaging	Het
Map7	A	G	10: 20,153,927 (GRCm39)	N681S	unknown	Het
Mdga2	A	T	12: 66,552,897 (GRCm39)	M912K	probably damaging	Het
Mlst8	C	T	17: 24,697,084 (GRCm39)		probably null	Het
Ms4a13	A	T	19: 11,147,329 (GRCm39)	V195D	unknown	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Nr4a2	G	C	2: 56,998,243 (GRCm39)	F574L	probably damaging	Het
Nup107	T	C	10: 117,613,065 (GRCm39)	N288D	probably damaging	Het
Or11g26	A	T	14: 50,753,002 (GRCm39)	T114S	probably benign	Het
Or13a1	T	A	6: 116,471,158 (GRCm39)	V196D	probably benign	Het
Or5b3	C	T	19: 13,388,511 (GRCm39)	H193Y	probably benign	Het
Pcolce	A	G	5: 137,605,087 (GRCm39)		probably null	Het
Pik3cg	A	G	12: 32,254,740 (GRCm39)	F416L	probably damaging	Het
Podnl1	A	G	8: 84,853,024 (GRCm39)	I65V		Het
Prpf8	T	C	11: 75,382,330 (GRCm39)	F387S	probably benign	Het
Rev3l	A	G	10: 39,697,534 (GRCm39)	Y677C	probably damaging	Het
Rhpn1	A	G	15: 75,584,162 (GRCm39)	T430A	probably benign	Het
Rnf187	T	C	11: 58,829,241 (GRCm39)	R124G	possibly damaging	Het
Rpl9-ps6	C	T	19: 32,443,783 (GRCm39)	V57I	probably benign	Het
Samhd1	A	T	2: 156,943,754 (GRCm39)	F587I	probably damaging	Het
Slc30a6	A	G	17: 74,722,664 (GRCm39)	T244A	probably benign	Het
Slc35f4	T	A	14: 49,543,666 (GRCm39)	Y310F	probably damaging	Het
Smarcc2	A	G	10: 128,318,662 (GRCm39)	Y648C	probably damaging	Het
Smc5	A	C	19: 23,191,533 (GRCm39)	V889G	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spopfm2	T	A	3: 94,083,737 (GRCm39)	T25S	probably benign	Het
Tango2	A	G	16: 18,120,574 (GRCm39)	V229A	probably damaging	Het
Tnks1bp1	A	G	2: 84,893,057 (GRCm39)	T995A	probably benign	Het
Trio	A	T	15: 27,749,912 (GRCm39)	I2263N	probably damaging	Het
Ttc28	T	C	5: 111,427,990 (GRCm39)	F1829L	probably damaging	Het
Ttn	A	G	2: 76,638,923 (GRCm39)	S13920P	probably damaging	Het
Ube2b	T	C	11: 51,877,570 (GRCm39)	N133S	probably damaging	Het
Ubn1	T	A	16: 4,899,422 (GRCm39)	H1055Q	probably benign	Het
Ubtf	G	A	11: 102,197,533 (GRCm39)	T705M	unknown	Het
Vmn2r109	A	T	17: 20,760,942 (GRCm39)	M805K	probably damaging	Het
Vsig10	T	C	5: 117,472,848 (GRCm39)	V147A	possibly damaging	Het
Zbtb16	C	A	9: 48,743,704 (GRCm39)	V203L	possibly damaging	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
R7595:Ikbip	UTSW	10	90,932,447 (GRCm39)	missense	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'- AGTGAGACGTCTGCTCCTCTAG -3'
(R):5'- TGCAGCATCGCACACTTACC -3'

Sequencing Primer
(F):5'- AAGCCCTGGTTGAGCGTTCTC -3'
(R):5'- GTCATCGCCAGAGACAGCAG -3'

Posted On

2019-10-24