Mutagenetix > Incidental Mutations

Incidental Mutation 'R0373:Mib2'

30599

Institutional Source

Beutler Lab

Gene Symbol

Mib2

Ensembl Gene

ENSMUSG00000029060

Gene Name

mindbomb E3 ubiquitin protein ligase 2

Synonyms

2210008I11Rik, Zzank1

MMRRC Submission

038579-MU

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 #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155654677-155669198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155656288 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 626 (N626K)

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

probably damaging
Transcript: ENSMUST00000103176
AA Change: N626K

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

SMART Domains

Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: N626K

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582	L235Q	probably damaging	Het
Adam6b	T	A	12: 113,490,655	V364D	probably benign	Het
Akap13	T	C	7: 75,609,929	L767P	probably benign	Het
Akap13	T	A	7: 75,730,500	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,605,377	V69A	probably benign	Het
Ankmy1	C	T	1: 92,896,190	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426		probably benign	Het
Def6	A	G	17: 28,220,180	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700		probably null	Het
Fam205a1	T	C	4: 42,851,161	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270	T206M	probably benign	Het
Gls	T	C	1: 52,188,699	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375	F104L	probably damaging	Het
Mrgprh	T	C	17: 12,876,956	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149		noncoding transcript	Het
Myh15	A	G	16: 49,182,959	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805	C177*	probably null	Het
Opcml	A	G	9: 28,813,398	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024		probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344	T796A	probably damaging	Het
Unc5b	C	A	10: 60,778,940	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522	Y322H	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
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
R4754:Mib2	UTSW	4	155655365	missense	possibly damaging	0.90
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'- AATTCAGGGTTCCAAACTGCCCTAC -3'
(R):5'- AGAAGGAGGATGGCTTTACCGCAC -3'

Sequencing Primer
(F):5'- CAGAAACCCTGGTTCTCTGG -3'
(R):5'- TACCGCACTGCATCTGGC -3'

Posted On

2013-04-24