Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02701:Mib1'

304140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mib1

Ensembl Gene

ENSMUSG00000024294

Gene Name

mindbomb E3 ubiquitin protein ligase 1

Synonyms

Mib, mind bomb-1, skeletrophin, E430019M12Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

10725548-10818704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10747357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 178 (V178A)

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: V178A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054428
Gene: ENSMUSG00000024294
AA Change: V178A

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

noncoding transcript
Transcript: ENSMUST00000131073

Predicted Effect

probably damaging
Transcript: ENSMUST00000165555
AA Change: V178A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131712
Gene: ENSMUSG00000024294
AA Change: V178A

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	G	5: 5,466,623		probably null	Het
4833423E24Rik	A	G	2: 85,484,169	L480P	probably damaging	Het
Arhgap21	A	G	2: 20,892,091	C125R	probably damaging	Het
Blmh	A	G	11: 76,971,910	D383G	probably benign	Het
Brca1	T	C	11: 101,525,235	E691G	probably damaging	Het
Chrm3	G	A	13: 9,878,464	R179*	probably null	Het
Cnrip1	A	G	11: 17,078,415	T116A	probably benign	Het
Csmd2	T	C	4: 128,496,141	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,572,284	V143D	possibly damaging	Het
Ddx60	A	T	8: 61,979,341	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,897,353	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 78,055,022	T253S	probably benign	Het
Gde1	T	A	7: 118,698,637	T9S	probably damaging	Het
Ggcx	T	A	6: 72,418,472		probably benign	Het
Gm813	G	A	16: 58,615,807	S51L	probably benign	Het
Hspg2	C	T	4: 137,557,174	A3481V	probably damaging	Het
Igf1r	T	C	7: 68,201,249	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,801	S25A	probably damaging	Het
Itga5	A	C	15: 103,347,766	C920G	probably damaging	Het
Kmt5b	A	G	19: 3,796,681	D118G	probably benign	Het
Lrp1b	T	G	2: 41,246,017	N1647T	possibly damaging	Het
Lrrc71	T	C	3: 87,741,772	E363G	probably benign	Het
Mapk1	A	G	16: 17,015,906	Y41C	probably benign	Het
Olfr1022	A	G	2: 85,869,458	I289V	probably benign	Het
Olfr159	A	G	4: 43,770,366	I215T	probably benign	Het
Olfr472	A	T	7: 107,903,442	T242S	probably benign	Het
Plb1	T	C	5: 32,364,197	V1464A	unknown	Het
Plekhg5	T	C	4: 152,103,022	S82P	probably damaging	Het
Plxna4	T	C	6: 32,517,559	T41A	probably benign	Het
Ppip5k1	A	C	2: 121,316,649		probably null	Het
Rpl14	T	C	9: 120,573,573		probably benign	Het
Slc44a2	T	C	9: 21,347,951	F554L	probably benign	Het
Slco1b2	T	A	6: 141,685,545	V635E	probably benign	Het
Sv2a	T	A	3: 96,187,131	C261S	probably damaging	Het
Thbs2	T	C	17: 14,683,361	I353V	probably benign	Het
Tspan4	G	A	7: 141,492,028	V205M	probably damaging	Het
Vezf1	A	T	11: 88,076,221	R93*	probably null	Het
Wwox	T	A	8: 114,706,368	V258D	probably damaging	Het
Zmynd12	G	T	4: 119,444,755		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
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
R5068:Mib1	UTSW	18	10793002	missense	probably damaging	0.99
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

Posted On

2015-04-16