Mutagenetix > Incidental Mutations

Incidental Mutation 'R4754:Mib2'

357784

Institutional Source

Beutler Lab

Gene Symbol

Mib2

Ensembl Gene

ENSMUSG00000029060

Gene Name

mindbomb E3 ubiquitin protein ligase 2

Synonyms

2210008I11Rik, Zzank1

Accession Numbers

Ncbi RefSeq: NM_001256107.1, NM_145124.3, NM_001256108.2; MGI:2679684

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4754 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

155654677-155669198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 155655365 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 783 (T783K)

Ref Sequence

ENSEMBL: ENSMUSP00000099465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030937] [ENSMUST00000103176] [ENSMUST00000141108]

Predicted Effect

probably benign
Transcript: ENSMUST00000030937

SMART Domains

Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061

Domain	Start	End	E-Value	Type
low complexity region	19	41	N/A	INTRINSIC
ZnMc	85	256	8.39e-48	SMART
ShKT	255	291	4.06e-10	SMART
IG	307	390	4.53e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103176
AA Change: T783K

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: T783K

Domain	Start	End	E-Value	Type
Pfam:MIB_HERC2	12	78	3.4e-26	PFAM
ZnF_ZZ	85	130	6.44e-9	SMART
Pfam:MIB_HERC2	160	225	4.2e-26	PFAM
Blast:ANK	285	320	2e-13	BLAST
ANK	428	457	8.52e-4	SMART
ANK	461	490	6.71e-2	SMART
ANK	494	523	9.93e-5	SMART
ANK	527	559	1.1e2	SMART
ANK	563	593	9.21e0	SMART
ANK	597	627	3.57e-6	SMART
ANK	631	660	3.31e-1	SMART
ANK	664	709	1.73e3	SMART
Blast:ANK	733	762	9e-10	BLAST
low complexity region	763	772	N/A	INTRINSIC
RING	798	832	2.55e-1	SMART
RING	877	909	1.81e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139788

Predicted Effect

probably benign
Transcript: ENSMUST00000141108

SMART Domains

Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060

Domain	Start	End	E-Value	Type
Pfam:MIB_HERC2	1	52	7.1e-17	PFAM
internal_repeat_1	82	150	7.77e-12	PROSPERO
internal_repeat_1	153	220	7.77e-12	PROSPERO
ANK	289	318	8.52e-4	SMART
ANK	322	351	6.71e-2	SMART
Pfam:Ank	356	375	2.9e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156906

Meta Mutation Damage Score

0.0940

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (107/109)

MGI Phenotype

Strain: 3652500; 3804450
PHENOTYPE: Mice homozygous for a knock-out allele display exencephaly with a variable penetrance that depends on the genetic background. Mice homozygous for a reporter/null allele are viable, fertile and show normal growth, body weight and brain morphology. [provided by MGI curators]

Allele List at MGI

All alleles(16) : Targeted(5) Gene trapped(11)

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700080E11Rik	A	T	9: 105,144,393	F151L	probably benign	Het
4932438A13Rik	C	T	3: 37,022,466	Q3663*	probably null	Het
A130010J15Rik	A	G	1: 193,174,529	Y63C	probably damaging	Het
Abcb4	C	A	5: 8,910,717	F266L	probably damaging	Het
Adam8	A	T	7: 139,984,780	I681N	possibly damaging	Het
Adgrf3	T	A	5: 30,197,617		probably null	Het
Ang2	A	G	14: 51,195,517	V136A	probably damaging	Het
Ankar	C	T	1: 72,698,694	G110R	probably damaging	Het
Ap3b1	T	C	13: 94,403,960	L130P	probably damaging	Het
Apc2	T	G	10: 80,314,358	W1749G	probably benign	Het
Asb2	T	C	12: 103,323,837	N565S	possibly damaging	Het
B3gnt7	C	A	1: 86,305,557	T58K	probably benign	Het
Brpf1	T	A	6: 113,320,447	N876K	possibly damaging	Het
Ccdc157	T	C	11: 4,148,994	I69V	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh20	A	T	1: 104,984,685	I555F	probably damaging	Het
Cfap73	T	C	5: 120,629,664	D274G	probably damaging	Het
Chd5	T	A	4: 152,377,746	I1310N	probably damaging	Het
Ckap2	T	A	8: 22,168,895	I611F	possibly damaging	Het
Cpeb2	A	G	5: 43,285,857	I964V	possibly damaging	Het
Ctbp2	C	A	7: 133,023,558		probably null	Het
Dhrs2	A	T	14: 55,238,748	I142F	probably damaging	Het
Dnah5	T	A	15: 28,420,955		probably null	Het
Dst	T	C	1: 34,212,309	S1822P	probably damaging	Het
Ect2	T	C	3: 27,126,963	K581E	probably damaging	Het
Edem1	C	T	6: 108,841,697	T222M	probably damaging	Het
Eif2ak1	A	G	5: 143,901,803	M592V	probably damaging	Het
Endou	T	G	15: 97,726,539	D49A	probably damaging	Het
Ensa	A	G	3: 95,622,554		probably benign	Het
Evc2	G	T	5: 37,387,031	R708L	probably damaging	Het
Fam120b	T	A	17: 15,422,962	C668S	probably damaging	Het
Fam135a	A	T	1: 24,028,754	C798*	probably null	Het
Fam135b	T	C	15: 71,462,951	D798G	probably benign	Het
Fam208a	A	T	14: 27,461,095	I504L	probably benign	Het
Fshb	A	C	2: 107,057,282	*131E	probably null	Het
G3bp2	C	T	5: 92,054,909	V441M	possibly damaging	Het
Galnt6	A	T	15: 100,699,224	F354I	probably damaging	Het
Gm1123	C	A	9: 99,023,240		probably null	Het
Gm1123	A	T	9: 99,023,241		probably null	Het
Gm15130	T	C	2: 111,142,862	N115S	unknown	Het
Gm7104	A	G	12: 88,285,995		noncoding transcript	Het
Gm9762	A	T	3: 78,966,421		noncoding transcript	Het
Grip2	A	G	6: 91,779,182	V508A	probably damaging	Het
Grip2	T	C	6: 91,779,192	T505A	probably damaging	Het
Haus4	A	G	14: 54,549,892		probably null	Het
Herc1	T	A	9: 66,501,206	D4571E	probably benign	Het
Hnrnpk	T	A	13: 58,399,136		probably benign	Het
Ica1l	T	C	1: 60,028,162	Y23C	probably damaging	Het
Kansl2-ps	A	G	7: 72,673,133		noncoding transcript	Het
Kcnma1	T	C	14: 23,363,836	D833G	probably damaging	Het
Kmt2e	A	T	5: 23,482,441	I430F	possibly damaging	Het
Lama2	C	A	10: 27,118,531	R1794L	possibly damaging	Het
Mcpt1	T	A	14: 56,018,680	F59I	probably damaging	Het
Nlrp4g	T	C	9: 124,349,788		noncoding transcript	Het
Obscn	T	C	11: 59,036,043	I6352V	possibly damaging	Het
Olfr1245	A	T	2: 89,575,047	H226Q	probably benign	Het
Olfr1456-ps1	T	A	19: 13,078,861		noncoding transcript	Het
Olfr531	C	T	7: 140,400,159	A296T	probably damaging	Het
Olfr68	T	C	7: 103,777,668	I226V	probably benign	Het
Olfr728	T	A	14: 50,140,033	N202I	possibly damaging	Het
Olfr728	T	G	14: 50,140,034	N202H	probably benign	Het
Pcdh10	G	A	3: 45,380,637	R462H	probably damaging	Het
Pcdhga12	C	A	18: 37,766,551	N145K	probably damaging	Het
Pik3r6	T	A	11: 68,544,775	L613Q	probably damaging	Het
Pknox2	T	C	9: 36,909,720	D282G	probably damaging	Het
Plod2	T	G	9: 92,606,531	Y624*	probably null	Het
Prkd3	C	A	17: 78,956,614	V684F	probably damaging	Het
Ptpn1	T	A	2: 167,974,160	V198D	probably damaging	Het
Ptpn12	G	T	5: 20,998,589	P397Q	probably benign	Het
Rad1	C	A	15: 10,493,126		probably benign	Het
Rasl11a	A	G	5: 146,847,015	D90G	probably benign	Het
Rnf181	A	G	6: 72,360,560		probably benign	Het
Ryr3	T	C	2: 112,757,639	I2652M	possibly damaging	Het
Siglecg	C	T	7: 43,411,871		probably benign	Het
Slc22a3	T	C	17: 12,507,195	S44G	probably benign	Het
Slc38a1	A	T	15: 96,576,782	F463I	probably damaging	Het
Smg1	A	T	7: 118,156,731		probably benign	Het
Syk	T	C	13: 52,612,259		probably benign	Het
Tbc1d5	T	C	17: 50,800,165	I454M	probably benign	Het
Tmed6	C	A	8: 107,063,730	D146Y	probably damaging	Het
Tmem132e	A	T	11: 82,444,851	K828*	probably null	Het
Tmprss15	A	T	16: 79,054,124	S294T	probably damaging	Het
Trp53bp1	A	G	2: 121,207,879	S1493P	probably damaging	Het
Tshb	A	T	3: 102,778,175	I46N	probably damaging	Het
Tspan11	T	C	6: 127,938,220	V99A	probably benign	Het
Ttn	T	C	2: 76,715,561	T24176A	probably benign	Het
Vmn1r8	T	C	6: 57,035,967	M1T	probably null	Het
Vmn2r104	A	T	17: 20,040,768	Y464*	probably null	Het
Vmn2r110	T	C	17: 20,596,196	T22A	probably benign	Het
Vmn2r17	T	A	5: 109,452,849	I671K	probably damaging	Het
Zbtb21	T	C	16: 97,951,266	N606D	probably damaging	Het
Zfy2	A	T	Y: 2,121,477	S139T	probably benign	Het
Zkscan17	G	A	11: 59,503,025	R156*	probably null	Het
Zp2	A	G	7: 120,138,318	V248A	probably benign	Het

Other mutations in Mib2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Mib2	APN	4	155657730	missense	probably damaging	1.00
IGL01404:Mib2	APN	4	155654936	missense	probably damaging	1.00
IGL01819:Mib2	APN	4	155655258	splice site	probably null
IGL02147:Mib2	APN	4	155657687	missense	probably benign
IGL02260:Mib2	APN	4	155661171	missense	probably damaging	1.00
IGL02472:Mib2	APN	4	155656746	missense	probably damaging	1.00
IGL02632:Mib2	APN	4	155655579	missense	probably damaging	0.98
IGL03051:Mib2	APN	4	155657290	missense	probably damaging	1.00
IGL03077:Mib2	APN	4	155659443	missense	probably benign	0.01
R0042:Mib2	UTSW	4	155659440	nonsense	probably null
R0042:Mib2	UTSW	4	155659440	nonsense	probably null
R0115:Mib2	UTSW	4	155656062	unclassified	probably benign
R0193:Mib2	UTSW	4	155655673	missense	probably benign
R0279:Mib2	UTSW	4	155661216	missense	possibly damaging	0.89
R0373:Mib2	UTSW	4	155656288	missense	probably damaging	1.00
R0481:Mib2	UTSW	4	155656062	unclassified	probably benign
R0563:Mib2	UTSW	4	155659460	missense	probably damaging	1.00
R0564:Mib2	UTSW	4	155659460	missense	probably damaging	1.00
R0625:Mib2	UTSW	4	155659460	missense	probably damaging	1.00
R0714:Mib2	UTSW	4	155659460	missense	probably damaging	1.00
R0740:Mib2	UTSW	4	155659460	missense	probably damaging	1.00
R0942:Mib2	UTSW	4	155659460	missense	probably damaging	1.00
R0987:Mib2	UTSW	4	155659460	missense	probably damaging	1.00
R1023:Mib2	UTSW	4	155659460	missense	probably damaging	1.00
R1033:Mib2	UTSW	4	155659460	missense	probably damaging	1.00
R1037:Mib2	UTSW	4	155659460	missense	probably damaging	1.00
R1460:Mib2	UTSW	4	155659460	missense	probably damaging	1.00
R1481:Mib2	UTSW	4	155656999	missense	probably benign	0.01
R1712:Mib2	UTSW	4	155654799	missense	probably damaging	1.00
R2015:Mib2	UTSW	4	155657880	missense	probably damaging	1.00
R2072:Mib2	UTSW	4	155659701	missense	probably damaging	0.99
R2131:Mib2	UTSW	4	155655238	splice site	probably null
R2187:Mib2	UTSW	4	155654933	missense	possibly damaging	0.95
R3751:Mib2	UTSW	4	155655284	missense	probably damaging	1.00
R3752:Mib2	UTSW	4	155655284	missense	probably damaging	1.00
R3753:Mib2	UTSW	4	155655284	missense	probably damaging	1.00
R4381:Mib2	UTSW	4	155657612	missense	possibly damaging	0.55
R4584:Mib2	UTSW	4	155657287	missense	probably damaging	1.00
R4669:Mib2	UTSW	4	155657415	missense	possibly damaging	0.49
R4782:Mib2	UTSW	4	155659772	missense	probably benign	0.00
R4799:Mib2	UTSW	4	155659772	missense	probably benign	0.00
R5036:Mib2	UTSW	4	155656288	missense	probably damaging	1.00
R5073:Mib2	UTSW	4	155656776	missense	probably damaging	1.00
R5915:Mib2	UTSW	4	155656051	unclassified	probably benign
R6695:Mib2	UTSW	4	155661172	missense	probably damaging	1.00
R7039:Mib2	UTSW	4	155659701	missense	probably damaging	0.99
R7234:Mib2	UTSW	4	155657893	missense	probably damaging	1.00
R7582:Mib2	UTSW	4	155654810	missense	probably benign
R8133:Mib2	UTSW	4	155657001	missense	probably benign	0.00
X0012:Mib2	UTSW	4	155655395	splice site	probably null
Z1176:Mib2	UTSW	4	155661141	missense	probably benign	0.06
Z1177:Mib2	UTSW	4	155655521	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CACTGTTAGTAGGGCTGGACTAG -3'
(R):5'- ATGTGAGCTACGCAAACCAC -3'

Sequencing Primer
(F):5'- TGGACTAGGCAGCTGGG -3'
(R):5'- AGTGCTCAAGGCCTTGCAG -3'

Posted On

2015-11-11