Mutagenetix > Incidental Mutation

Incidental Mutation 'R2422:Mib1'

249412

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

040384-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10725548-10818704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10751906 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 263 (S263P)

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: S263P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054428
Gene: ENSMUSG00000024294
AA Change: S263P

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: S263P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131712
Gene: ENSMUSG00000024294
AA Change: S263P

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

Meta Mutation Damage Score

0.3223

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,613,475	V1084L	probably benign	Het
4933409G03Rik	A	T	2: 68,591,520	N47I	probably benign	Het
Actr5	T	C	2: 158,636,081	F457S	probably damaging	Het
Adamts3	A	G	5: 89,683,175	S1007P	probably damaging	Het
Adck2	C	T	6: 39,583,998	A440V	possibly damaging	Het
Birc6	T	A	17: 74,660,614	L301Q	probably damaging	Het
Ccdc18	A	C	5: 108,228,588	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,339,159	C186R	probably benign	Het
Cdk12	T	G	11: 98,219,074	S640R	probably benign	Het
Cdv3	T	C	9: 103,365,118		probably benign	Het
Celf2	G	A	2: 6,553,889	T364I	probably damaging	Het
Cmtr2	C	A	8: 110,222,781	S574R	probably benign	Het
Col14a1	T	C	15: 55,449,922	L56P	unknown	Het
Dctn1	C	T	6: 83,199,800	L1241F	possibly damaging	Het
Depdc5	T	C	5: 32,991,035	F1505S	probably damaging	Het
Dhcr24	G	T	4: 106,561,094		probably benign	Het
Dnajc21	A	G	15: 10,461,935	S127P	probably benign	Het
Entpd7	A	T	19: 43,728,088	Y507F	possibly damaging	Het
Fbp1	T	C	13: 62,871,306	K24E	probably benign	Het
Galr1	A	T	18: 82,405,923	N76K	probably damaging	Het
Glrb	A	G	3: 80,860,235	I226T	probably damaging	Het
Gm17421	T	A	12: 113,369,487		noncoding transcript	Het
Gm4950	T	A	18: 51,865,784	Q33L	probably benign	Het
Gm5415	C	T	1: 32,545,861	A323T	possibly damaging	Het
Gm6583	A	T	5: 112,355,118	V240D	probably damaging	Het
Gnat2	A	T	3: 108,095,539	M88L	probably damaging	Het
Gpr183	A	G	14: 121,954,177	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 36,774,999	I308V	probably benign	Het
Hipk3	C	T	2: 104,471,485	G121R	probably benign	Het
Hjurp	A	G	1: 88,266,561		probably benign	Het
Homez	C	A	14: 54,857,574	V226F	probably benign	Het
Inf2	C	A	12: 112,610,824	A1034D	unknown	Het
Kcnc4	G	T	3: 107,445,547	P572T	probably benign	Het
Kmt2d	T	C	15: 98,862,266	E1037G	unknown	Het
Krt78	T	C	15: 101,947,264	E704G	probably damaging	Het
Lama1	A	T	17: 67,750,553	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,765	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,078,146	R121Q	probably benign	Het
Mettl22	T	C	16: 8,487,361	F293L	probably damaging	Het
Ndufaf1	T	C	2: 119,655,737	E298G	probably damaging	Het
Nek1	T	C	8: 61,019,901	V152A	probably damaging	Het
Nlrp4d	T	A	7: 10,362,945	D876V	probably benign	Het
Olfr178	T	C	16: 58,889,965	E85G	probably benign	Het
Olfr235	A	T	19: 12,268,919	T230S	probably damaging	Het
Olfr740	T	C	14: 50,453,436	L128P	probably damaging	Het
Olfr975	A	G	9: 39,950,528	L81P	possibly damaging	Het
Pcdha11	G	T	18: 37,007,272	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,958,048	M988I	probably benign	Het
Plxnb1	G	A	9: 109,108,438	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,042,653		probably benign	Het
Pum2	A	T	12: 8,748,931	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,124,344	E67G	probably damaging	Het
Rgs9	C	A	11: 109,225,777		probably null	Het
Sipa1	A	T	19: 5,652,112	D923E	possibly damaging	Het
Smc1a	A	G	X: 152,047,975		probably benign	Het
Snx33	C	A	9: 56,918,538	M546I	probably benign	Het
Spag17	T	A	3: 100,027,619	W714R	probably benign	Het
Spata2	C	T	2: 167,484,206	R231Q	probably damaging	Het
Stard9	C	T	2: 120,700,284	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,855,594	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,770,005	E110G	probably damaging	Het
Tmem102	T	A	11: 69,804,537	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Tyw5	A	G	1: 57,396,748	I82T	possibly damaging	Het
Uba6	A	G	5: 86,132,616		probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc13c	T	C	9: 73,931,547	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,227,835	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,086,532	Y605H	probably benign	Het
Wdr77	A	T	3: 105,960,021	K62*	probably null	Het
Zfhx4	C	A	3: 5,390,405	A1153E	probably benign	Het
Zfp266	C	A	9: 20,499,262	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,966,439		probably benign	Het
Zfp644	A	G	5: 106,637,244	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,815,277	T141I	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
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

Predicted Primers

PCR Primer
(F):5'- ACCTAACTAGCAAGGTAGTGATTG -3'
(R):5'- GCTCTGAATTTGTTATCAAGCGTC -3'

Sequencing Primer
(F):5'- ATGGCAACAGGAATCCTG -3'
(R):5'- CTGAGTTTCAGCATAGTACTTGC -3'

Posted On

2014-11-12