Mutagenetix > Incidental Mutation

Incidental Mutation 'R5068:Mib1'

388507

Institutional Source

Beutler Lab

Gene Symbol

Mib1

Ensembl Gene

ENSMUSG00000024294

Gene Name

mindbomb E3 ubiquitin protein ligase 1

Synonyms

Mib, mind bomb-1, skeletrophin, E430019M12Rik

MMRRC Submission

042658-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10725548-10818704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10793002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 646 (E646G)

Ref Sequence

ENSEMBL: ENSMUSP00000131712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052838] [ENSMUST00000165555]

AlphaFold

Q80SY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000052838
AA Change: E646G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054428
Gene: ENSMUSG00000024294
AA Change: E646G

Domain	Start	End	E-Value	Type
Pfam:MIB_HERC2	15	72	5.6e-21	PFAM
ZnF_ZZ	79	124	1.01e-10	SMART
Pfam:MIB_HERC2	154	219	4.9e-31	PFAM
ANK	430	460	1.63e3	SMART
ANK	463	492	2.1e-3	SMART
ANK	496	525	2.47e2	SMART
ANK	529	558	6.02e-4	SMART
ANK	562	591	1.14e-4	SMART
ANK	595	626	6.26e-2	SMART
ANK	631	661	1.24e-5	SMART
ANK	665	694	9.27e-5	SMART
ANK	698	729	1.04e2	SMART
RING	819	853	1.8e-1	SMART
RING	866	900	1.9e-1	SMART
RING	963	995	4.58e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000124288
AA Change: E280G

SMART Domains

Protein: ENSMUSP00000114289
Gene: ENSMUSG00000024294
AA Change: E280G

Domain	Start	End	E-Value	Type
ANK	65	95	1.63e3	SMART
ANK	98	127	2.1e-3	SMART
ANK	131	160	2.47e2	SMART
ANK	164	193	6.02e-4	SMART
ANK	197	226	1.14e-4	SMART
ANK	230	261	6.26e-2	SMART
ANK	266	296	1.24e-5	SMART
ANK	300	329	9.27e-5	SMART
ANK	333	364	1.04e2	SMART
RING	454	488	1.8e-1	SMART
RING	501	535	1.9e-1	SMART
RING	598	630	4.58e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000165555
AA Change: E646G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131712
Gene: ENSMUSG00000024294
AA Change: E646G

Domain	Start	End	E-Value	Type
Pfam:MIB_HERC2	15	74	5.7e-25	PFAM
ZnF_ZZ	79	124	1.01e-10	SMART
Pfam:MIB_HERC2	154	221	5.5e-31	PFAM
ANK	430	460	1.63e3	SMART
ANK	463	492	2.1e-3	SMART
ANK	496	525	2.47e2	SMART
ANK	529	558	6.02e-4	SMART
ANK	562	591	1.14e-4	SMART
ANK	595	626	6.26e-2	SMART
ANK	631	661	1.24e-5	SMART
ANK	665	694	9.27e-5	SMART
ANK	698	729	1.04e2	SMART
RING	819	853	1.8e-1	SMART
RING	866	900	1.9e-1	SMART
RING	963	995	4.58e-4	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, failure of heart looping, impaired angiogenesis and arterial specification, premature neuronal precursor differentiation, posterior truncation, and abnormal somitogenesis with loss ofposterior markers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	A	C	6: 41,032,436	Y155D	probably benign	Het
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
6030468B19Rik	A	G	11: 117,802,875	Y56C	possibly damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Add2	T	A	6: 86,107,458	L496Q	probably damaging	Het
Akt1s1	T	C	7: 44,850,008		probably null	Het
Als2	G	T	1: 59,211,274	P437Q	probably benign	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd17	T	C	5: 90,254,808	R1464G	probably damaging	Het
Ankrd24	T	C	10: 81,639,865	S121P	possibly damaging	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Bnip3l	T	C	14: 66,999,632	E57G	possibly damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cc2d1b	T	C	4: 108,623,464	V27A	possibly damaging	Het
Cdc37	T	C	9: 21,149,803	T19A	probably damaging	Het
Cep152	T	C	2: 125,571,816	I1199V	probably benign	Het
Chd6	G	T	2: 160,966,369	L1642I	possibly damaging	Het
Chst13	T	C	6: 90,309,569	E137G	possibly damaging	Het
Cnrip1	A	G	11: 17,054,687	D79G	probably damaging	Het
Dars2	A	T	1: 161,041,913	C589S	probably benign	Het
Dhx15	T	G	5: 52,170,067	I102L	possibly damaging	Het
Dip2a	A	G	10: 76,318,043	L151P	possibly damaging	Het
Dlc1	T	C	8: 36,938,030	T202A	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dlgap4	T	C	2: 156,707,111	F464L	probably benign	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Dthd1	C	A	5: 62,818,716	D244E	probably benign	Het
Dtl	A	T	1: 191,568,373	D126E	probably damaging	Het
Ell2	A	G	13: 75,763,618	N341S	probably benign	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Erbb4	A	T	1: 68,043,902		probably null	Het
Erc2	A	T	14: 28,302,943	H593L	possibly damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Fyn	A	G	10: 39,526,843	K204E	probably damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gm4847	A	T	1: 166,638,384	F212Y	possibly damaging	Het
Gpc5	T	C	14: 115,417,264	*499R	probably null	Het
Hcn4	T	C	9: 58,860,021	L955P	unknown	Het
Hook2	C	A	8: 84,993,399	L111I	possibly damaging	Het
Hook3	C	T	8: 26,095,757		probably null	Het
Hvcn1	T	C	5: 122,233,481	F28S	probably damaging	Het
Igkv6-32	A	G	6: 70,074,283	F30L	possibly damaging	Het
Inpp5b	G	A	4: 124,742,649		probably null	Het
Itgb2	G	A	10: 77,548,761	A239T	probably damaging	Het
Kcnrg	T	C	14: 61,607,817	L102P	probably damaging	Het
Kif16b	A	T	2: 142,711,707	M1068K	probably benign	Het
Kifc3	T	C	8: 95,110,216	R109G	possibly damaging	Het
Klhl28	A	T	12: 64,957,712	M9K	probably benign	Het
Kptn	T	C	7: 16,123,102	Y172H	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Mrc1	T	A	2: 14,306,516	M868K	probably benign	Het
Mterf1a	T	C	5: 3,891,854	N5D	probably benign	Het
Muc5b	T	C	7: 141,858,608	S1764P	unknown	Het
Myo9b	T	C	8: 71,349,055	Y1275H	probably damaging	Het
Nek1	T	C	8: 61,016,296	I129T	probably damaging	Het
Net1	G	A	13: 3,886,740	A221V	probably benign	Het
Nuak2	A	T	1: 132,331,771	D429V	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr648	T	A	7: 104,180,241	S56C	probably damaging	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Olfr901	T	C	9: 38,430,464	Y61H	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdh7	T	C	5: 57,722,166	V1021A	probably damaging	Het
Pclo	G	C	5: 14,679,073		probably benign	Het
Pds5a	A	C	5: 65,615,272	D1329E	probably damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pias3	A	G	3: 96,703,855	K431E	probably damaging	Het
Piwil1	T	C	5: 128,741,614	S158P	probably damaging	Het
Plxnc1	A	T	10: 94,799,377	I1329N	possibly damaging	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Pnpla1	T	A	17: 28,879,423		probably null	Het
Prdm10	T	C	9: 31,359,047	Y827H	probably damaging	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rgl3	A	G	9: 21,988,044		probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rpp40	T	C	13: 35,898,698	N254D	probably benign	Het
Scin	T	A	12: 40,124,700	H128L	probably damaging	Het
Sh3bp2	A	T	5: 34,556,967	M225L	probably benign	Het
Shisa9	C	A	16: 12,267,548	H324Q	possibly damaging	Het
Sipa1l1	A	G	12: 82,437,827	D1585G	probably damaging	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slc6a13	T	C	6: 121,333,342	L320P	probably damaging	Het
Spats2l	A	G	1: 57,943,221	T421A	probably benign	Het
Spryd3	A	T	15: 102,128,611	D207E	probably benign	Het
Srrt	T	C	5: 137,296,541	N392S	possibly damaging	Het
Stk36	G	T	1: 74,622,345	R510S	probably benign	Het
Sucnr1	A	G	3: 60,086,867	Y272C	probably damaging	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Tmem131	A	G	1: 36,854,905	I139T	probably damaging	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Tsc22d1	T	C	14: 76,418,310	I661T	probably benign	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Uap1	G	T	1: 170,161,463	P130Q	probably damaging	Het
Ube3c	T	C	5: 29,601,354		probably null	Het
Umad1	A	T	6: 8,401,157		probably null	Het
Usp34	T	C	11: 23,460,665	V2705A	possibly damaging	Het
Vps13a	T	C	19: 16,746,058	S259G	probably benign	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wdfy3	T	C	5: 101,894,937	T1983A	probably benign	Het
Wdr24	T	G	17: 25,825,779	F203V	possibly damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	Het
Zfp282	A	C	6: 47,877,703	Q11P	probably benign	Het
Zfp750	T	A	11: 121,512,195	T576S	probably benign	Het

Other mutations in Mib1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Mib1	APN	18	10798490	missense	probably benign	0.02
IGL02300:Mib1	APN	18	10741016	missense	probably damaging	1.00
IGL02701:Mib1	APN	18	10747357	missense	probably damaging	0.98
IGL02731:Mib1	APN	18	10800115	missense	possibly damaging	0.81
IGL03002:Mib1	APN	18	10798356	missense	possibly damaging	0.87
IGL03083:Mib1	APN	18	10752029	critical splice donor site	probably null
PIT4466001:Mib1	UTSW	18	10775541	missense	probably benign	0.01
PIT4468001:Mib1	UTSW	18	10798463	missense	possibly damaging	0.86
R0496:Mib1	UTSW	18	10804773	missense	probably benign
R1015:Mib1	UTSW	18	10726409	missense	probably damaging	1.00
R1237:Mib1	UTSW	18	10768149	missense	probably damaging	1.00
R1557:Mib1	UTSW	18	10798474	missense	probably damaging	1.00
R1918:Mib1	UTSW	18	10740972	splice site	probably null
R1952:Mib1	UTSW	18	10812077	missense	possibly damaging	0.94
R1982:Mib1	UTSW	18	10812064	missense	probably damaging	1.00
R2009:Mib1	UTSW	18	10812118	missense	probably damaging	1.00
R2372:Mib1	UTSW	18	10812045	missense	probably damaging	1.00
R2422:Mib1	UTSW	18	10751906	missense	probably damaging	1.00
R2922:Mib1	UTSW	18	10760831	nonsense	probably null
R2923:Mib1	UTSW	18	10760831	nonsense	probably null
R2938:Mib1	UTSW	18	10752033	splice site	probably benign
R3814:Mib1	UTSW	18	10763281	missense	probably benign	0.09
R3858:Mib1	UTSW	18	10798409	missense	possibly damaging	0.56
R4356:Mib1	UTSW	18	10751844	missense	probably benign	0.03
R4357:Mib1	UTSW	18	10751844	missense	probably benign	0.03
R4358:Mib1	UTSW	18	10751844	missense	probably benign	0.03
R4406:Mib1	UTSW	18	10763289	missense	probably damaging	1.00
R4497:Mib1	UTSW	18	10811985	missense	possibly damaging	0.75
R4593:Mib1	UTSW	18	10768191	missense	possibly damaging	0.89
R4623:Mib1	UTSW	18	10808086	missense	probably benign	0.02
R5069:Mib1	UTSW	18	10793002	missense	probably damaging	0.99
R5070:Mib1	UTSW	18	10793002	missense	probably damaging	0.99
R5258:Mib1	UTSW	18	10795856	splice site	probably null
R5322:Mib1	UTSW	18	10792975	missense	probably damaging	1.00
R5589:Mib1	UTSW	18	10794488	missense	probably benign	0.00
R5622:Mib1	UTSW	18	10794503	missense	possibly damaging	0.90
R6401:Mib1	UTSW	18	10795802	missense	probably benign
R6928:Mib1	UTSW	18	10802282	missense	probably benign	0.02
R7242:Mib1	UTSW	18	10741011	missense	probably damaging	1.00
R7870:Mib1	UTSW	18	10798446	missense	possibly damaging	0.75
R7912:Mib1	UTSW	18	10778187	missense	probably damaging	1.00
R8127:Mib1	UTSW	18	10741031	missense	probably damaging	1.00
R8276:Mib1	UTSW	18	10751880	missense	possibly damaging	0.89
R8338:Mib1	UTSW	18	10726372	missense	probably benign	0.09
R8375:Mib1	UTSW	18	10768233	critical splice donor site	probably null
R8777:Mib1	UTSW	18	10747422	missense	probably benign	0.35
R8777-TAIL:Mib1	UTSW	18	10747422	missense	probably benign	0.35
R8811:Mib1	UTSW	18	10755643	missense	probably benign	0.00
R9057:Mib1	UTSW	18	10795728	missense	possibly damaging	0.90
R9117:Mib1	UTSW	18	10793023	missense	probably benign	0.00
R9170:Mib1	UTSW	18	10726437	missense	probably benign	0.02
R9252:Mib1	UTSW	18	10800088	missense	probably benign
R9256:Mib1	UTSW	18	10760862	missense	possibly damaging	0.80
R9323:Mib1	UTSW	18	10775685	missense	probably damaging	1.00
R9418:Mib1	UTSW	18	10812064	missense	probably damaging	1.00
R9581:Mib1	UTSW	18	10775701	missense	possibly damaging	0.61
R9701:Mib1	UTSW	18	10798494	missense	probably damaging	1.00
R9802:Mib1	UTSW	18	10798494	missense	probably damaging	1.00
Z1177:Mib1	UTSW	18	10763309	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTGCCTGTGTGTACAAACATG -3'
(R):5'- AGTATTAGAGCGAGGCTGGC -3'

Sequencing Primer
(F):5'- GCCTGTGTGTACAAACATGATTTTC -3'
(R):5'- ACCTCCAAGTGTCTGATGATG -3'

Posted On

2016-06-06