Mutagenetix > Incidental Mutations

Incidental Mutation 'N/A - 293:Mycbp2'

Institutional Source

Beutler Lab

Gene Symbol

Mycbp2

Ensembl Gene

ENSMUSG00000033004

Gene Name

MYC binding protein 2

Synonyms

C130061D10Rik, Phr1, Pam

Accession Numbers

Genbank: NM_207215; MGI: 2179432

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

N/A - 293 of strain aoba

Quality Score

Status

Validated

Chromosome

Chromosomal Location

103113411-103346814 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 103224462 bp

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159855] [ENSMUST00000160758]

Predicted Effect

probably benign
Transcript: ENSMUST00000159855

SMART Domains

Protein: ENSMUSP00000124710
Gene: ENSMUSG00000033004

Domain	Start	End	E-Value	Type
low complexity region	5	27	N/A	INTRINSIC
low complexity region	47	55	N/A	INTRINSIC
low complexity region	100	127	N/A	INTRINSIC
low complexity region	178	191	N/A	INTRINSIC
Pfam:RCC1_2	683	712	1.4e-10	PFAM
low complexity region	737	750	N/A	INTRINSIC
low complexity region	793	815	N/A	INTRINSIC
Pfam:RCC1_2	942	971	5.5e-10	PFAM
Pfam:RCC1	958	1006	4.8e-15	PFAM
Pfam:PHR	1235	1385	8.2e-44	PFAM
Pfam:PHR	1723	1880	1.4e-43	PFAM
low complexity region	1935	1948	N/A	INTRINSIC
low complexity region	2182	2195	N/A	INTRINSIC
Pfam:Filamin	2261	2431	7.5e-9	PFAM
Pfam:SH3_3	2472	2539	4.1e-9	PFAM
internal_repeat_3	2612	2679	1.69e-7	PROSPERO
low complexity region	2701	2710	N/A	INTRINSIC
low complexity region	2884	2917	N/A	INTRINSIC
low complexity region	2970	2984	N/A	INTRINSIC
coiled coil region	3263	3290	N/A	INTRINSIC
low complexity region	3352	3365	N/A	INTRINSIC
low complexity region	3418	3433	N/A	INTRINSIC
low complexity region	3678	3695	N/A	INTRINSIC
APC10	3810	3968	1.11e-18	SMART
low complexity region	4103	4115	N/A	INTRINSIC
low complexity region	4190	4212	N/A	INTRINSIC
Blast:BBOX	4327	4370	7e-7	BLAST
RING	4496	4546	5.35e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160758

SMART Domains

Protein: ENSMUSP00000124601
Gene: ENSMUSG00000033004

Domain	Start	End	E-Value	Type
low complexity region	14	22	N/A	INTRINSIC
low complexity region	67	94	N/A	INTRINSIC
low complexity region	145	158	N/A	INTRINSIC
Pfam:RCC1_2	650	679	1e-10	PFAM
low complexity region	704	717	N/A	INTRINSIC
low complexity region	760	782	N/A	INTRINSIC
Pfam:RCC1_2	909	938	1.5e-9	PFAM
Pfam:RCC1	925	973	1.3e-15	PFAM
Pfam:PHR	1202	1353	1.6e-50	PFAM
Pfam:PHR	1690	1848	3.1e-58	PFAM
low complexity region	1902	1915	N/A	INTRINSIC
low complexity region	2149	2162	N/A	INTRINSIC
Pfam:Filamin	2228	2398	7.6e-9	PFAM
Pfam:SH3_3	2439	2507	2.3e-10	PFAM
internal_repeat_3	2554	2621	2e-7	PROSPERO
low complexity region	2643	2652	N/A	INTRINSIC
low complexity region	2774	2807	N/A	INTRINSIC
low complexity region	2860	2874	N/A	INTRINSIC
coiled coil region	3153	3180	N/A	INTRINSIC
low complexity region	3242	3255	N/A	INTRINSIC
low complexity region	3308	3323	N/A	INTRINSIC
low complexity region	3568	3585	N/A	INTRINSIC
APC10	3700	3858	1.11e-18	SMART
low complexity region	3993	4005	N/A	INTRINSIC
low complexity region	4080	4102	N/A	INTRINSIC
Blast:BBOX	4217	4260	7e-7	BLAST
RING	4386	4436	5.35e-5	SMART

Coding Region Coverage

1x: 88.4%
3x: 74.0%

Validation Efficiency

85% (165/193)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(5) Chemically induced(3)

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Gm7271	T	C	5: 76,516,492	S143P	probably benign	Homo
Gm7634	T	A	1: 16,053,860		noncoding transcript	Homo
Kras	T	A	6: 145,232,214	M111L	probably benign	Homo
Lrig1	T	C	6: 94,609,087	T707A	probably benign	Homo
Olfr13	C	T	6: 43,174,559	T191I	probably benign	Homo
Smarcad1	T	A	6: 65,074,914	F344I	probably benign	Homo
Sprr4	G	A	3: 92,500,343	Q51*	probably null	Homo
Zeb1	A	T	18: 5,767,076	H529L	possibly damaging	Homo

Other mutations in Mycbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Mycbp2	APN	14	103223050	missense	probably damaging	1.00
IGL00518:Mycbp2	APN	14	103155808	missense	probably damaging	1.00
IGL00650:Mycbp2	APN	14	103143228	missense	probably damaging	0.97
IGL00653:Mycbp2	APN	14	103143228	missense	probably damaging	0.97
IGL00742:Mycbp2	APN	14	103201352	missense	probably damaging	1.00
IGL00755:Mycbp2	APN	14	103194621	missense	possibly damaging	0.72
IGL00793:Mycbp2	APN	14	103126753	missense	possibly damaging	0.77
IGL00916:Mycbp2	APN	14	103291283	splice site	probably benign
IGL00960:Mycbp2	APN	14	103229384	missense	possibly damaging	0.95
IGL00977:Mycbp2	APN	14	103172642	missense	probably damaging	0.98
IGL01349:Mycbp2	APN	14	103122547	missense	probably damaging	0.98
IGL01369:Mycbp2	APN	14	103155510	missense	possibly damaging	0.61
IGL01410:Mycbp2	APN	14	103229492	splice site	probably null
IGL01586:Mycbp2	APN	14	103140869	critical splice donor site	probably null
IGL01593:Mycbp2	APN	14	103291287	critical splice donor site	probably null
IGL01693:Mycbp2	APN	14	103127979	missense	probably damaging	0.99
IGL01730:Mycbp2	APN	14	103135204	nonsense	probably null
IGL01820:Mycbp2	APN	14	103188501	missense	probably damaging	1.00
IGL01974:Mycbp2	APN	14	103143211	missense	possibly damaging	0.88
IGL02071:Mycbp2	APN	14	103154907	nonsense	probably null
IGL02178:Mycbp2	APN	14	103224366	missense	probably benign	0.01
IGL02324:Mycbp2	APN	14	103242207	missense	probably damaging	1.00
IGL02442:Mycbp2	APN	14	103314375	missense	probably benign
IGL02607:Mycbp2	APN	14	103285273	missense	probably damaging	1.00
IGL02679:Mycbp2	APN	14	103205185	missense	probably benign
IGL02702:Mycbp2	APN	14	103220124	missense	probably benign	0.01
IGL02709:Mycbp2	APN	14	103155261	missense	probably damaging	0.97
IGL02736:Mycbp2	APN	14	103114242	splice site	probably benign
IGL02866:Mycbp2	APN	14	103129992	missense	probably damaging	0.98
IGL02939:Mycbp2	APN	14	103177279	missense	probably benign
IGL03082:Mycbp2	APN	14	103204369	missense	probably benign	0.23
IGL03142:Mycbp2	APN	14	103298776	missense	probably damaging	0.99
IGL03155:Mycbp2	APN	14	103155453	missense	probably benign	0.06
IGL03236:Mycbp2	APN	14	103298698	missense	probably damaging	0.99
IGL03256:Mycbp2	APN	14	103188589	missense	possibly damaging	0.92
IGL03303:Mycbp2	APN	14	103247758	missense	probably damaging	1.00
decompose	UTSW	14	103219979	missense	probably benign	0.12
moulder	UTSW	14	103188592	missense	probably damaging	1.00
R0040:Mycbp2	UTSW	14	103224272	missense	probably benign	0.11
R0040:Mycbp2	UTSW	14	103224272	missense	probably benign	0.11
R0057:Mycbp2	UTSW	14	103152142	missense	probably damaging	0.97
R0063:Mycbp2	UTSW	14	103156634	unclassified	probably benign
R0097:Mycbp2	UTSW	14	103155762	missense	probably damaging	1.00
R0097:Mycbp2	UTSW	14	103155762	missense	probably damaging	1.00
R0268:Mycbp2	UTSW	14	103314325	nonsense	probably null
R0388:Mycbp2	UTSW	14	103156667	missense	probably benign	0.01
R0410:Mycbp2	UTSW	14	103135133	missense	probably damaging	1.00
R0530:Mycbp2	UTSW	14	103182459	missense	probably damaging	1.00
R0591:Mycbp2	UTSW	14	103196391	unclassified	probably benign
R0671:Mycbp2	UTSW	14	103194588	missense	possibly damaging	0.95
R0755:Mycbp2	UTSW	14	103174794	missense	probably damaging	1.00
R0817:Mycbp2	UTSW	14	103229418	missense	probably damaging	0.99
R0818:Mycbp2	UTSW	14	103229418	missense	probably damaging	0.99
R0819:Mycbp2	UTSW	14	103229418	missense	probably damaging	0.99
R0881:Mycbp2	UTSW	14	103220013	missense	probably benign
R0903:Mycbp2	UTSW	14	103275857	missense	probably damaging	0.99
R0940:Mycbp2	UTSW	14	103262693	unclassified	probably benign
R0961:Mycbp2	UTSW	14	103184835	missense	probably damaging	1.00
R1004:Mycbp2	UTSW	14	103140917	missense	probably benign	0.00
R1138:Mycbp2	UTSW	14	103174826	missense	possibly damaging	0.84
R1170:Mycbp2	UTSW	14	103200152	nonsense	probably null
R1211:Mycbp2	UTSW	14	103120563	missense	probably benign	0.31
R1268:Mycbp2	UTSW	14	103208782	missense	probably damaging	1.00
R1298:Mycbp2	UTSW	14	103155898	missense	probably damaging	1.00
R1341:Mycbp2	UTSW	14	103298867	splice site	probably benign
R1469:Mycbp2	UTSW	14	103188520	missense	probably damaging	0.99
R1469:Mycbp2	UTSW	14	103188520	missense	probably damaging	0.99
R1513:Mycbp2	UTSW	14	103204389	missense	probably damaging	1.00
R1528:Mycbp2	UTSW	14	103232597	missense	possibly damaging	0.91
R1564:Mycbp2	UTSW	14	103169851	splice site	probably null
R1565:Mycbp2	UTSW	14	103252509	missense	possibly damaging	0.82
R1656:Mycbp2	UTSW	14	103247758	missense	probably damaging	1.00
R1694:Mycbp2	UTSW	14	103227511	missense	probably damaging	1.00
R1709:Mycbp2	UTSW	14	103224416	missense	probably damaging	1.00
R1728:Mycbp2	UTSW	14	103155178	missense	probably damaging	0.98
R1751:Mycbp2	UTSW	14	103248405	missense	probably damaging	0.98
R1767:Mycbp2	UTSW	14	103248405	missense	probably damaging	0.98
R1772:Mycbp2	UTSW	14	103182419	missense	probably damaging	1.00
R1784:Mycbp2	UTSW	14	103155178	missense	probably damaging	0.98
R1823:Mycbp2	UTSW	14	103252509	missense	possibly damaging	0.82
R1824:Mycbp2	UTSW	14	103252509	missense	possibly damaging	0.82
R1844:Mycbp2	UTSW	14	103155714	missense	possibly damaging	0.94
R1916:Mycbp2	UTSW	14	103184883	missense	probably damaging	1.00
R1944:Mycbp2	UTSW	14	103229404	missense	probably damaging	1.00
R1983:Mycbp2	UTSW	14	103145971	missense	probably damaging	0.97
R2002:Mycbp2	UTSW	14	103248403	missense	probably damaging	0.98
R2031:Mycbp2	UTSW	14	103188592	missense	probably damaging	1.00
R2035:Mycbp2	UTSW	14	103260239	missense	probably damaging	1.00
R2048:Mycbp2	UTSW	14	103232524	critical splice donor site	probably null
R2061:Mycbp2	UTSW	14	103287260	missense	probably damaging	0.99
R2113:Mycbp2	UTSW	14	103220076	missense	probably damaging	0.99
R2128:Mycbp2	UTSW	14	103201230	missense	probably benign	0.01
R2134:Mycbp2	UTSW	14	103208893	missense	probably damaging	1.00
R2135:Mycbp2	UTSW	14	103145942	missense	probably benign
R2135:Mycbp2	UTSW	14	103208893	missense	probably damaging	1.00
R2146:Mycbp2	UTSW	14	103155922	missense	probably damaging	0.97
R2147:Mycbp2	UTSW	14	103155922	missense	probably damaging	0.97
R2148:Mycbp2	UTSW	14	103155922	missense	probably damaging	0.97
R2150:Mycbp2	UTSW	14	103155922	missense	probably damaging	0.97
R2163:Mycbp2	UTSW	14	103169855	critical splice donor site	probably null
R2248:Mycbp2	UTSW	14	103169859	missense	possibly damaging	0.50
R2265:Mycbp2	UTSW	14	103262749	missense	probably benign	0.39
R2272:Mycbp2	UTSW	14	103144338	missense	probably null	0.66
R2379:Mycbp2	UTSW	14	103174950	missense	probably benign
R2495:Mycbp2	UTSW	14	103200118	missense	probably damaging	0.99
R2508:Mycbp2	UTSW	14	103131245	missense	probably damaging	0.99
R2510:Mycbp2	UTSW	14	103155255	missense	probably damaging	0.96
R2851:Mycbp2	UTSW	14	103144333	missense	probably damaging	0.99
R2852:Mycbp2	UTSW	14	103144333	missense	probably damaging	0.99
R2965:Mycbp2	UTSW	14	103297358	missense	probably benign	0.00
R3156:Mycbp2	UTSW	14	103208743	splice site	probably benign
R3404:Mycbp2	UTSW	14	103200114	missense	probably damaging	0.99
R3410:Mycbp2	UTSW	14	103135117	missense	probably damaging	1.00
R3429:Mycbp2	UTSW	14	103229430	missense	probably damaging	1.00
R3706:Mycbp2	UTSW	14	103156414	missense	probably benign	0.31
R3772:Mycbp2	UTSW	14	103133788	missense	possibly damaging	0.82
R3778:Mycbp2	UTSW	14	103197285	missense	probably damaging	0.99
R3883:Mycbp2	UTSW	14	103295250	missense	probably damaging	0.97
R3884:Mycbp2	UTSW	14	103295250	missense	probably damaging	0.97
R3887:Mycbp2	UTSW	14	103174797	missense	probably damaging	0.98
R3923:Mycbp2	UTSW	14	103126713	missense	probably damaging	1.00
R3926:Mycbp2	UTSW	14	103204500	missense	probably damaging	1.00
R3959:Mycbp2	UTSW	14	103295252	missense	probably benign	0.00
R3966:Mycbp2	UTSW	14	103138725	splice site	probably benign
R4021:Mycbp2	UTSW	14	103152157	missense	probably damaging	0.97
R4363:Mycbp2	UTSW	14	103248457	missense	probably damaging	1.00
R4405:Mycbp2	UTSW	14	103123445	missense	probably damaging	1.00
R4407:Mycbp2	UTSW	14	103287228	missense	probably damaging	1.00
R4410:Mycbp2	UTSW	14	103135266	missense	probably damaging	1.00
R4434:Mycbp2	UTSW	14	103133789	missense	probably damaging	0.99
R4448:Mycbp2	UTSW	14	103188502	missense	possibly damaging	0.89
R4452:Mycbp2	UTSW	14	103155658	missense	probably damaging	0.99
R4573:Mycbp2	UTSW	14	103346297	missense	probably benign	0.05
R4589:Mycbp2	UTSW	14	103177313	missense	probably benign	0.04
R4621:Mycbp2	UTSW	14	103219979	missense	probably benign	0.12
R4622:Mycbp2	UTSW	14	103219979	missense	probably benign	0.12
R4729:Mycbp2	UTSW	14	103188591	missense	probably damaging	1.00
R4770:Mycbp2	UTSW	14	103219944	missense	probably benign	0.41
R4790:Mycbp2	UTSW	14	103229437	missense	probably damaging	1.00
R4884:Mycbp2	UTSW	14	103211295	missense	probably damaging	1.00
R4885:Mycbp2	UTSW	14	103145946	missense	possibly damaging	0.86
R4956:Mycbp2	UTSW	14	103287239	missense	probably damaging	0.99
R4980:Mycbp2	UTSW	14	103260385	splice site	probably null
R4994:Mycbp2	UTSW	14	103169994	missense	probably benign
R5029:Mycbp2	UTSW	14	103156510	missense	probably benign	0.21
R5038:Mycbp2	UTSW	14	103296939	missense	probably damaging	1.00
R5044:Mycbp2	UTSW	14	103139235	critical splice donor site	probably null
R5231:Mycbp2	UTSW	14	103346214	critical splice donor site	probably null
R5305:Mycbp2	UTSW	14	103346321	missense	probably benign	0.00
R5322:Mycbp2	UTSW	14	103185683	critical splice acceptor site	probably null
R5376:Mycbp2	UTSW	14	103242432	nonsense	probably null
R5414:Mycbp2	UTSW	14	103306261	missense	probably damaging	1.00
R5453:Mycbp2	UTSW	14	103201401	missense	probably damaging	0.99
R5462:Mycbp2	UTSW	14	103200126	missense	probably damaging	1.00
R5499:Mycbp2	UTSW	14	103242179	missense	probably damaging	1.00
R5502:Mycbp2	UTSW	14	103173814	missense	probably damaging	1.00
R5524:Mycbp2	UTSW	14	103295237	missense	probably damaging	1.00
R5533:Mycbp2	UTSW	14	103282645	nonsense	probably null
R5569:Mycbp2	UTSW	14	103135243	missense	probably damaging	1.00
R5574:Mycbp2	UTSW	14	103142767	missense	possibly damaging	0.94
R5579:Mycbp2	UTSW	14	103291333	missense	probably damaging	0.98
R5590:Mycbp2	UTSW	14	103123355	missense	probably damaging	1.00
R5592:Mycbp2	UTSW	14	103194677	missense	probably benign	0.02
R5643:Mycbp2	UTSW	14	103287334	missense	probably damaging	1.00
R5644:Mycbp2	UTSW	14	103287334	missense	probably damaging	1.00
R5645:Mycbp2	UTSW	14	103188608	missense	probably damaging	1.00
R5645:Mycbp2	UTSW	14	103188615	critical splice acceptor site	probably null
R5646:Mycbp2	UTSW	14	103169910	missense	probably benign	0.09
R5648:Mycbp2	UTSW	14	103291342	missense	probably damaging	1.00
R5651:Mycbp2	UTSW	14	103282665	missense	probably null	0.99
R5668:Mycbp2	UTSW	14	103120519	missense	possibly damaging	0.62
R5745:Mycbp2	UTSW	14	103156453	missense	possibly damaging	0.94
R5751:Mycbp2	UTSW	14	103148550	missense	probably damaging	0.99
R5756:Mycbp2	UTSW	14	103133974	missense	probably damaging	0.99
R5837:Mycbp2	UTSW	14	103124403	missense	probably damaging	1.00
R5984:Mycbp2	UTSW	14	103126684	missense	probably damaging	0.98
R6005:Mycbp2	UTSW	14	103156723	missense	probably benign
R6063:Mycbp2	UTSW	14	103135146	missense	probably damaging	1.00
R6091:Mycbp2	UTSW	14	103223046	missense	probably damaging	1.00
R6120:Mycbp2	UTSW	14	103275887	missense	probably benign	0.01
R6129:Mycbp2	UTSW	14	103285400	missense	probably benign	0.21
R6147:Mycbp2	UTSW	14	103155509	nonsense	probably null
R6161:Mycbp2	UTSW	14	103298747	missense	probably damaging	1.00
R6187:Mycbp2	UTSW	14	103147017	missense	probably damaging	1.00
R6208:Mycbp2	UTSW	14	103295228	missense	probably benign	0.11
R6228:Mycbp2	UTSW	14	103260229	missense	probably benign	0.24
R6301:Mycbp2	UTSW	14	103155426	missense	probably damaging	1.00
R6311:Mycbp2	UTSW	14	103262740	missense	possibly damaging	0.93
R6329:Mycbp2	UTSW	14	103155852	missense	probably benign	0.00
R6439:Mycbp2	UTSW	14	103155475	missense	probably benign	0.00
R6462:Mycbp2	UTSW	14	103136557	critical splice donor site	probably null
R6528:Mycbp2	UTSW	14	103142881	missense	probably damaging	0.99
R6736:Mycbp2	UTSW	14	103191567	missense	probably null	1.00
R6821:Mycbp2	UTSW	14	103139409	missense	probably damaging	1.00
R6851:Mycbp2	UTSW	14	103260194	critical splice donor site	probably null
R6948:Mycbp2	UTSW	14	103285267	missense	possibly damaging	0.94
R6977:Mycbp2	UTSW	14	103154906	missense	probably damaging	0.99
R6985:Mycbp2	UTSW	14	103206681	missense	possibly damaging	0.79
R7035:Mycbp2	UTSW	14	103174981	missense	probably benign
R7054:Mycbp2	UTSW	14	103156098	missense	possibly damaging	0.90
R7108:Mycbp2	UTSW	14	103122603	missense	probably damaging	1.00
R7117:Mycbp2	UTSW	14	103154077	missense	probably benign	0.21
R7137:Mycbp2	UTSW	14	103282679	missense	possibly damaging	0.94
R7169:Mycbp2	UTSW	14	103260200	missense	possibly damaging	0.78
R7218:Mycbp2	UTSW	14	103133846	missense	probably benign
R7234:Mycbp2	UTSW	14	103215337	missense	probably damaging	0.98
R7238:Mycbp2	UTSW	14	103156297	missense	probably damaging	1.00
R7244:Mycbp2	UTSW	14	103208909	missense	probably damaging	0.98
R7265:Mycbp2	UTSW	14	103197243	critical splice donor site	probably null
R7286:Mycbp2	UTSW	14	103120591	missense	probably damaging	1.00
R7332:Mycbp2	UTSW	14	103156453	missense	probably damaging	1.00
R7332:Mycbp2	UTSW	14	103197357	missense	probably damaging	0.97
R7384:Mycbp2	UTSW	14	103276393	missense	probably damaging	0.99
R7392:Mycbp2	UTSW	14	103152191	missense	probably damaging	1.00
R7392:Mycbp2	UTSW	14	103243128	missense	probably damaging	0.99
R7409:Mycbp2	UTSW	14	103288744	missense	probably damaging	1.00
R7486:Mycbp2	UTSW	14	103197254	missense	probably damaging	0.97
R7643:Mycbp2	UTSW	14	103346265	missense	probably benign
R7661:Mycbp2	UTSW	14	103212623	missense	probably damaging	1.00
R7663:Mycbp2	UTSW	14	103191609	missense	probably damaging	0.99
R7730:Mycbp2	UTSW	14	103123355	missense	probably damaging	0.99
R7757:Mycbp2	UTSW	14	103191619	missense	probably damaging	1.00
R7773:Mycbp2	UTSW	14	103248404	missense	probably damaging	0.97
R7787:Mycbp2	UTSW	14	103127097	missense	probably damaging	1.00
R7822:Mycbp2	UTSW	14	103139415	missense	probably benign	0.00
R7838:Mycbp2	UTSW	14	103177293	missense	probably benign	0.10
R7841:Mycbp2	UTSW	14	103146831	critical splice donor site	probably null
R7858:Mycbp2	UTSW	14	103156305	missense	probably damaging	1.00
R7873:Mycbp2	UTSW	14	103156146	missense	probably damaging	1.00
R7911:Mycbp2	UTSW	14	103200185	missense	probably damaging	0.99
R7942:Mycbp2	UTSW	14	103155238	missense	probably damaging	0.99
R7951:Mycbp2	UTSW	14	103215462	missense	probably damaging	0.99
R7958:Mycbp2	UTSW	14	103129964	missense	probably benign	0.00
R8235:Mycbp2	UTSW	14	103198674	missense	probably damaging	0.99
R8246:Mycbp2	UTSW	14	103155204	missense	probably damaging	0.99
R8338:Mycbp2	UTSW	14	103135265	missense	probably damaging	1.00
R8343:Mycbp2	UTSW	14	103160675	splice site	probably null
R8361:Mycbp2	UTSW	14	103138814	missense	probably damaging	1.00
R8490:Mycbp2	UTSW	14	103208831	missense	probably benign	0.00
R8524:Mycbp2	UTSW	14	103155459	missense	probably benign	0.23
R8525:Mycbp2	UTSW	14	103212719	missense	probably damaging	1.00
R8735:Mycbp2	UTSW	14	103223150	missense	probably damaging	0.99
X0024:Mycbp2	UTSW	14	103146942	missense	probably damaging	1.00
Z1176:Mycbp2	UTSW	14	103156637	missense	probably benign	0.06
Z1176:Mycbp2	UTSW	14	103346249	missense	probably benign
Z1177:Mycbp2	UTSW	14	103127063	critical splice donor site	probably null
Z1177:Mycbp2	UTSW	14	103135123	missense	probably damaging	1.00
Z1177:Mycbp2	UTSW	14	103169873	missense	possibly damaging	0.83

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to C transition at position 122339 in the Genbank genomic region NC_000080 for the Mycbp2 gene on chromosome 14 (TCCCGAGTAG ->TCCCGAGCAG). The mutation is located within intron 30, three nucleotides upstream from the start of exon 31, and may impair the acceptor splice site of intron 30. Mycbp2 contains 85 exons. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

Mycbp2 encodes the 4711 amino acid MYC-binding protein 2 (MYCBP2). MYCBP2 is a probable E3 ubiquitin-protein ligase, mediating ubiquitination and subsequent proteasomal degradation of target proteins. MYCBP2 may have a role during synaptogenesis. The protein contains a B box-type zinc finger, a DOC domain, a filamin repeat, five RCC1 repeats, and a RING-type zinc finger (Uniprot Q7TPH6). The zinc finger and DOC domains are found in proteins with ubiquitin ligase activity. Filamin repeats are important for homodimerization, and RCC1 repeats are found in proteins that associate with GTP-binding proteins. Mice homozygous for a targeted allele of Mycbp2 exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.

Posted On

2009-11-11