Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02300:Mib1'

290271

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mib1

Ensembl Gene

ENSMUSG00000024294

Gene Name

MIB E3 ubiquitin protein ligase 1

Synonyms

skeletrophin, mindbomb, Mib, mind bomb-1, E430019M12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02300

Quality Score

Status

Chromosome

Chromosomal Location

10725548-10818704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10741016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 88 (C88Y)

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: C88Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054428
Gene: ENSMUSG00000024294
AA Change: C88Y

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: C88Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131712
Gene: ENSMUSG00000024294
AA Change: C88Y

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	T	C	13: 19,270,774 (GRCm39)	F128L	probably damaging	Het
Ccdc65	G	A	15: 98,620,991 (GRCm39)		probably benign	Het
Cul9	T	C	17: 46,831,958 (GRCm39)		probably benign	Het
Efcab14	G	T	4: 115,616,093 (GRCm39)		probably null	Het
Frs2	A	T	10: 116,913,496 (GRCm39)	N111K	possibly damaging	Het
Herc1	T	C	9: 66,383,645 (GRCm39)	I3703T	probably benign	Het
Ktn1	T	A	14: 47,927,517 (GRCm39)	M557K	probably damaging	Het
Or5b121	A	G	19: 13,507,244 (GRCm39)	D113G	probably damaging	Het
Or8k3b	T	C	2: 86,520,996 (GRCm39)	I108V	probably benign	Het
Pclo	A	T	5: 14,763,755 (GRCm39)	Y4076F	unknown	Het
Pdcd11	T	C	19: 47,115,381 (GRCm39)	F1417L	probably benign	Het
Raph1	G	A	1: 60,565,106 (GRCm39)	T127M	possibly damaging	Het
Slc38a10	C	T	11: 120,001,116 (GRCm39)	G568E	probably benign	Het
Timeless	G	A	10: 128,080,676 (GRCm39)	S519N	probably benign	Het
U2surp	A	G	9: 95,370,823 (GRCm39)	V373A	probably damaging	Het
Vmn2r101	A	T	17: 19,832,199 (GRCm39)	I732F	probably damaging	Het
Zfp28	T	C	7: 6,392,495 (GRCm39)	S122P	probably benign	Het

Other mutations in Mib1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Mib1	APN	18	10,798,490 (GRCm39)	missense	probably benign	0.02
IGL02701:Mib1	APN	18	10,747,357 (GRCm39)	missense	probably damaging	0.98
IGL02731:Mib1	APN	18	10,800,115 (GRCm39)	missense	possibly damaging	0.81
IGL03002:Mib1	APN	18	10,798,356 (GRCm39)	missense	possibly damaging	0.87
IGL03083:Mib1	APN	18	10,752,029 (GRCm39)	critical splice donor site	probably null
PIT4466001:Mib1	UTSW	18	10,775,541 (GRCm39)	missense	probably benign	0.01
PIT4468001:Mib1	UTSW	18	10,798,463 (GRCm39)	missense	possibly damaging	0.86
R0496:Mib1	UTSW	18	10,804,773 (GRCm39)	missense	probably benign
R1015:Mib1	UTSW	18	10,726,409 (GRCm39)	missense	probably damaging	1.00
R1237:Mib1	UTSW	18	10,768,149 (GRCm39)	missense	probably damaging	1.00
R1557:Mib1	UTSW	18	10,798,474 (GRCm39)	missense	probably damaging	1.00
R1918:Mib1	UTSW	18	10,740,972 (GRCm39)	splice site	probably null
R1952:Mib1	UTSW	18	10,812,077 (GRCm39)	missense	possibly damaging	0.94
R1982:Mib1	UTSW	18	10,812,064 (GRCm39)	missense	probably damaging	1.00
R2009:Mib1	UTSW	18	10,812,118 (GRCm39)	missense	probably damaging	1.00
R2372:Mib1	UTSW	18	10,812,045 (GRCm39)	missense	probably damaging	1.00
R2422:Mib1	UTSW	18	10,751,906 (GRCm39)	missense	probably damaging	1.00
R2922:Mib1	UTSW	18	10,760,831 (GRCm39)	nonsense	probably null
R2923:Mib1	UTSW	18	10,760,831 (GRCm39)	nonsense	probably null
R2938:Mib1	UTSW	18	10,752,033 (GRCm39)	splice site	probably benign
R3814:Mib1	UTSW	18	10,763,281 (GRCm39)	missense	probably benign	0.09
R3858:Mib1	UTSW	18	10,798,409 (GRCm39)	missense	possibly damaging	0.56
R4356:Mib1	UTSW	18	10,751,844 (GRCm39)	missense	probably benign	0.03
R4357:Mib1	UTSW	18	10,751,844 (GRCm39)	missense	probably benign	0.03
R4358:Mib1	UTSW	18	10,751,844 (GRCm39)	missense	probably benign	0.03
R4406:Mib1	UTSW	18	10,763,289 (GRCm39)	missense	probably damaging	1.00
R4497:Mib1	UTSW	18	10,811,985 (GRCm39)	missense	possibly damaging	0.75
R4593:Mib1	UTSW	18	10,768,191 (GRCm39)	missense	possibly damaging	0.89
R4623:Mib1	UTSW	18	10,808,086 (GRCm39)	missense	probably benign	0.02
R5068:Mib1	UTSW	18	10,793,002 (GRCm39)	missense	probably damaging	0.99
R5069:Mib1	UTSW	18	10,793,002 (GRCm39)	missense	probably damaging	0.99
R5070:Mib1	UTSW	18	10,793,002 (GRCm39)	missense	probably damaging	0.99
R5258:Mib1	UTSW	18	10,795,856 (GRCm39)	splice site	probably null
R5322:Mib1	UTSW	18	10,792,975 (GRCm39)	missense	probably damaging	1.00
R5589:Mib1	UTSW	18	10,794,488 (GRCm39)	missense	probably benign	0.00
R5622:Mib1	UTSW	18	10,794,503 (GRCm39)	missense	possibly damaging	0.90
R6401:Mib1	UTSW	18	10,795,802 (GRCm39)	missense	probably benign
R6928:Mib1	UTSW	18	10,802,282 (GRCm39)	missense	probably benign	0.02
R7242:Mib1	UTSW	18	10,741,011 (GRCm39)	missense	probably damaging	1.00
R7870:Mib1	UTSW	18	10,798,446 (GRCm39)	missense	possibly damaging	0.75
R7912:Mib1	UTSW	18	10,778,187 (GRCm39)	missense	probably damaging	1.00
R8127:Mib1	UTSW	18	10,741,031 (GRCm39)	missense	probably damaging	1.00
R8276:Mib1	UTSW	18	10,751,880 (GRCm39)	missense	possibly damaging	0.89
R8338:Mib1	UTSW	18	10,726,372 (GRCm39)	missense	probably benign	0.09
R8375:Mib1	UTSW	18	10,768,233 (GRCm39)	critical splice donor site	probably null
R8777:Mib1	UTSW	18	10,747,422 (GRCm39)	missense	probably benign	0.35
R8777-TAIL:Mib1	UTSW	18	10,747,422 (GRCm39)	missense	probably benign	0.35
R8811:Mib1	UTSW	18	10,755,643 (GRCm39)	missense	probably benign	0.00
R9057:Mib1	UTSW	18	10,795,728 (GRCm39)	missense	possibly damaging	0.90
R9117:Mib1	UTSW	18	10,793,023 (GRCm39)	missense	probably benign	0.00
R9170:Mib1	UTSW	18	10,726,437 (GRCm39)	missense	probably benign	0.02
R9252:Mib1	UTSW	18	10,800,088 (GRCm39)	missense	probably benign
R9256:Mib1	UTSW	18	10,760,862 (GRCm39)	missense	possibly damaging	0.80
R9323:Mib1	UTSW	18	10,775,685 (GRCm39)	missense	probably damaging	1.00
R9418:Mib1	UTSW	18	10,812,064 (GRCm39)	missense	probably damaging	1.00
R9581:Mib1	UTSW	18	10,775,701 (GRCm39)	missense	possibly damaging	0.61
R9701:Mib1	UTSW	18	10,798,494 (GRCm39)	missense	probably damaging	1.00
R9802:Mib1	UTSW	18	10,798,494 (GRCm39)	missense	probably damaging	1.00
Z1177:Mib1	UTSW	18	10,763,309 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16