Mutagenetix > Incidental Mutations

Incidental Mutation 'R7039:Mib2'

546933

Institutional Source

Beutler Lab

Gene Symbol

Mib2

Ensembl Gene

ENSMUSG00000029060

Gene Name

mindbomb E3 ubiquitin protein ligase 2

Synonyms

2210008I11Rik, Zzank1

MMRRC Submission

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 #

R7039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155654677-155669198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155659701 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 168 (D168G)

Ref Sequence

ENSEMBL: ENSMUSP00000099465 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000103176
AA Change: D168G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: D168G

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: ENSMUST00000139134

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: ENSMUST00000155189

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	A	7: 28,140,148	R462Q	possibly damaging	Het
Actl7b	A	T	4: 56,741,022	L112Q	probably damaging	Het
Agap3	A	C	5: 24,483,401	I396L	probably benign	Het
AI987944	G	T	7: 41,374,456	S366R	probably benign	Het
Aox3	A	G	1: 58,176,555	T1049A	probably damaging	Het
Ap1g2	A	T	14: 55,102,654	L407*	probably null	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Brd3	T	C	2: 27,456,917	K402E	probably damaging	Het
Cc2d2b	A	T	19: 40,802,401	D935V	probably damaging	Het
Cenpe	A	G	3: 135,255,456	N1904D	probably benign	Het
Cfap74	G	T	4: 155,454,108		probably null	Het
Chrdl2	A	G	7: 100,028,672	T261A	probably damaging	Het
Cyp4a14	G	A	4: 115,491,081	R400C	probably benign	Het
Dhfr	G	A	13: 92,355,283	V9I	probably benign	Het
Epha4	A	G	1: 77,506,785	S196P	probably damaging	Het
Evc2	T	A	5: 37,421,888	L1115Q	probably damaging	Het
Fat3	T	A	9: 16,376,265	E654V	probably damaging	Het
Fer1l4	C	T	2: 156,036,730	V14I	probably benign	Het
Frmd5	A	T	2: 121,547,647		probably benign	Het
Helz	T	C	11: 107,619,318		probably null	Het
Igkv6-13	T	C	6: 70,457,514	S116G	probably benign	Het
Iscu	T	C	5: 113,776,772	V115A	possibly damaging	Het
Jade2	C	A	11: 51,828,359	K253N	probably damaging	Het
Katnal2	A	G	18: 77,047,172		probably null	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Magi3	T	C	3: 104,051,383	D462G	probably damaging	Het
Map3k14	T	C	11: 103,221,035	N940S	probably damaging	Het
Masp2	A	T	4: 148,602,586	M1L	probably benign	Het
Mga	G	A	2: 119,932,678	V1272I	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Msto1	A	C	3: 88,911,390	V287G	probably damaging	Het
Myo5b	T	A	18: 74,701,528	D886E	probably benign	Het
Nek10	T	C	14: 14,826,946	I48T	possibly damaging	Het
Nek10	A	T	14: 14,986,700	R1013W	probably damaging	Het
Nipsnap3a	T	C	4: 53,000,130	V194A	probably damaging	Het
Nlrp9a	A	T	7: 26,567,942	T766S	probably benign	Het
Nol10	T	A	12: 17,429,184	S672T	possibly damaging	Het
Olfr1062	A	T	2: 86,422,833	I281K	possibly damaging	Het
Olfr1226	A	T	2: 89,193,446	I196N	probably damaging	Het
Olfr1253	A	T	2: 89,752,751	F26I	probably benign	Het
Olfr933	T	A	9: 38,975,987	F104I	probably damaging	Het
Patj	T	A	4: 98,569,078	N1272K	probably damaging	Het
Peak1	T	C	9: 56,257,809	E945G	probably benign	Het
Peg3	C	T	7: 6,717,859	D16N	probably damaging	Het
Pik3r4	T	G	9: 105,676,890	I1082M	possibly damaging	Het
Plekhg5	T	A	4: 152,107,785	M472K	possibly damaging	Het
Plekhm1	T	C	11: 103,395,228	D127G	probably damaging	Het
Ppfia4	G	A	1: 134,312,115	S908L	probably damaging	Het
Psmc3	A	G	2: 91,055,046	N60S	probably benign	Het
Rapgef1	T	A	2: 29,726,214	D697E	probably damaging	Het
Rapgef3	T	A	15: 97,761,568	H54L	probably benign	Het
Rhobtb3	G	A	13: 75,872,453	R577*	probably null	Het
Safb2	T	C	17: 56,564,594	E218G	possibly damaging	Het
Scaf1	C	T	7: 45,008,426	R343H	probably damaging	Het
Snx24	G	A	18: 53,340,235		probably null	Het
Tbc1d1	T	C	5: 64,284,757	F707L	probably benign	Het
Tcaf2	T	C	6: 42,626,140	T829A	probably damaging	Het
Tcea2	C	T	2: 181,686,918	Q248*	probably null	Het
Tcirg1	A	T	19: 3,896,666	L729Q	probably damaging	Het
Thap3	A	G	4: 151,985,692	F82L	probably damaging	Het
Ttk	T	A	9: 83,868,092	M700K	probably damaging	Het
Ubap2l	G	T	3: 90,002,355	P56H	probably damaging	Het
Ubr2	A	G	17: 47,010,213	S3P	probably benign	Het
Uchl3	C	T	14: 101,685,692		probably benign	Het
Vmn2r111	T	A	17: 22,548,184	E777D	probably damaging	Het
Vmn2r20	A	T	6: 123,386,123	D567E	probably damaging	Het
Vps13c	T	G	9: 67,937,763	L2043R	probably damaging	Het
Zan	T	G	5: 137,400,134	D4212A	unknown	Het
Zap70	C	T	1: 36,778,751	P278S	probably benign	Het
Zbtb8b	A	T	4: 129,427,685	M461K	possibly damaging	Het
Zfat	T	G	15: 68,180,362	I528L	probably benign	Het
Zfp532	T	G	18: 65,638,763	V784G	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	unclassified	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	unclassified	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
R7234:Mib2	UTSW	4	155657893	missense	probably damaging	1.00
R7582:Mib2	UTSW	4	155654810	missense	probably benign
X0012:Mib2	UTSW	4	155655395	unclassified	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'- ACGTTCGTGGTTCCATCTG -3'
(R):5'- TCCTAATGACCCAGATGCCG -3'

Sequencing Primer
(F):5'- GTCACACTGGCCACACTTCG -3'
(R):5'- CTAATGACCCAGATGCCGTTAGG -3'

Posted On

2019-05-13