Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03031:Mis18bp1'

408458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mis18bp1

Ensembl Gene

ENSMUSG00000047534

Gene Name

MIS18 binding protein 1

Synonyms

C79407

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03031

Quality Score

Status

Chromosome

Chromosomal Location

65132734-65172604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65161930 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3 (V3A)

Ref Sequence

ENSEMBL: ENSMUSP00000152490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052201] [ENSMUST00000124201] [ENSMUST00000221296] [ENSMUST00000222244]

Predicted Effect

probably benign
Transcript: ENSMUST00000052201
AA Change: V3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: V3A

Domain	Start	End	E-Value	Type
low complexity region	319	332	N/A	INTRINSIC
Pfam:SANTA	336	425	1.4e-27	PFAM
coiled coil region	428	448	N/A	INTRINSIC
coiled coil region	645	668	N/A	INTRINSIC
SANT	742	794	9.48e-6	SMART
low complexity region	874	884	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140391

Predicted Effect

probably benign
Transcript: ENSMUST00000221296

Predicted Effect

probably benign
Transcript: ENSMUST00000222244
AA Change: V3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,314,024	D753G	probably benign	Het
Adat2	T	C	10: 13,556,846		probably benign	Het
Ahsa2	A	G	11: 23,490,426	L275S	probably benign	Het
Arhgef38	C	T	3: 133,132,067	D118N	possibly damaging	Het
Bicra	A	T	7: 15,975,801	H1097Q	probably benign	Het
C4b	T	C	17: 34,731,130	T1389A	possibly damaging	Het
Cd180	A	G	13: 102,705,027	S194G	probably benign	Het
Chgb	C	A	2: 132,793,514	Q459K	probably benign	Het
Clvs1	G	T	4: 9,449,385		probably benign	Het
Cpox	G	A	16: 58,672,560	G186R	probably damaging	Het
Cul5	A	G	9: 53,642,675		probably benign	Het
Epsti1	G	A	14: 77,974,581	R249K	probably benign	Het
Gabrg1	A	T	5: 70,794,682	Y90*	probably null	Het
Gabrp	T	C	11: 33,554,980	R274G	probably damaging	Het
Gm597	A	G	1: 28,778,583	F123L	probably benign	Het
Gm6401	C	T	14: 41,966,894	E73K	possibly damaging	Het
Gm9825	T	C	6: 7,982,857		noncoding transcript	Het
Hectd4	C	T	5: 121,348,794	T3284M	possibly damaging	Het
Hoxc9	T	C	15: 102,984,090	M245T	probably damaging	Het
Lpar6	T	C	14: 73,239,442	V281A	possibly damaging	Het
Med18	G	T	4: 132,459,613	Q192K	possibly damaging	Het
Mpped2	G	T	2: 106,783,623		probably benign	Het
Ms4a10	A	G	19: 10,968,671	V32A	probably benign	Het
Mthfd1l	T	A	10: 4,018,601		probably null	Het
Myh1	A	T	11: 67,206,387	Q422L	possibly damaging	Het
Myo3b	A	T	2: 70,255,377	Q819L	possibly damaging	Het
Ncoa1	G	A	12: 4,274,818	T921I	possibly damaging	Het
Olfr807	A	G	10: 129,755,369	L27P	possibly damaging	Het
Olfr894	A	C	9: 38,219,065	T81P	probably damaging	Het
Olfr960	A	G	9: 39,623,398	I92V	probably damaging	Het
Phf3	A	G	1: 30,804,653	S1742P	probably benign	Het
Plxdc2	G	A	2: 16,650,232		probably null	Het
Poc5	A	G	13: 96,401,615	T263A	probably benign	Het
Prss41	T	A	17: 23,842,422	I132F	probably damaging	Het
Pxylp1	A	G	9: 96,825,142	I329T	probably benign	Het
Rbm27	T	C	18: 42,333,399		probably null	Het
Rpgrip1l	A	T	8: 91,260,783	V882E	probably damaging	Het
Sec16b	T	C	1: 157,560,799	S579P	probably benign	Het
Senp7	A	G	16: 56,175,886	E776G	probably damaging	Het
Smc2	A	G	4: 52,449,638	I207V	probably benign	Het
Spats2	A	G	15: 99,180,688	T211A	probably benign	Het
Sphkap	A	T	1: 83,276,831	S779T	probably damaging	Het
Syt11	A	T	3: 88,748,841	M1K	probably null	Het
Tacc2	A	G	7: 130,623,855	T757A	possibly damaging	Het
Tecta	A	C	9: 42,345,493	M1629R	probably benign	Het
Ufsp2	T	A	8: 45,984,100	I101N	probably damaging	Het
Unc13b	T	A	4: 43,235,368	C892S	probably damaging	Het
Ush1c	A	G	7: 46,224,937		probably benign	Het
Vwde	A	T	6: 13,208,382	V167E	probably benign	Het
Wdfy4	A	G	14: 33,140,651	L588P	probably damaging	Het
Zfyve1	T	C	12: 83,574,821	T267A	probably damaging	Het

Other mutations in Mis18bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Mis18bp1	APN	12	65158441	missense	possibly damaging	0.68
IGL01383:Mis18bp1	APN	12	65148989	missense	probably benign	0.05
IGL01736:Mis18bp1	APN	12	65138678	missense	probably damaging	1.00
IGL02037:Mis18bp1	APN	12	65136748	critical splice donor site	probably null
IGL02210:Mis18bp1	APN	12	65136831	nonsense	probably null
IGL02318:Mis18bp1	APN	12	65158741	missense	probably benign	0.04
IGL02541:Mis18bp1	APN	12	65161460	missense	probably damaging	0.97
IGL02664:Mis18bp1	APN	12	65153880	nonsense	probably null
IGL02838:Mis18bp1	APN	12	65136826	missense	probably damaging	0.99
PIT4453001:Mis18bp1	UTSW	12	65158673	missense	probably damaging	0.98
R0555:Mis18bp1	UTSW	12	65161453	missense	possibly damaging	0.94
R1169:Mis18bp1	UTSW	12	65143283	nonsense	probably null
R1517:Mis18bp1	UTSW	12	65133813	missense	probably benign	0.03
R1702:Mis18bp1	UTSW	12	65161744	missense	probably benign
R1705:Mis18bp1	UTSW	12	65149339	missense	probably benign	0.19
R1888:Mis18bp1	UTSW	12	65149328	missense	probably benign	0.01
R1888:Mis18bp1	UTSW	12	65149328	missense	probably benign	0.01
R1973:Mis18bp1	UTSW	12	65149076	nonsense	probably null
R1990:Mis18bp1	UTSW	12	65158694	missense	probably benign	0.03
R2023:Mis18bp1	UTSW	12	65149109	missense	probably damaging	0.97
R2043:Mis18bp1	UTSW	12	65149418	missense	probably damaging	1.00
R2318:Mis18bp1	UTSW	12	65140843	missense	possibly damaging	0.92
R2897:Mis18bp1	UTSW	12	65133586	missense	probably benign	0.09
R3120:Mis18bp1	UTSW	12	65156988	splice site	probably null
R3845:Mis18bp1	UTSW	12	65149142	missense	possibly damaging	0.61
R4578:Mis18bp1	UTSW	12	65153881	missense	probably damaging	1.00
R4590:Mis18bp1	UTSW	12	65158506	missense	possibly damaging	0.50
R4614:Mis18bp1	UTSW	12	65153529	intron	probably benign
R4626:Mis18bp1	UTSW	12	65140766	missense	probably damaging	1.00
R4724:Mis18bp1	UTSW	12	65158739	missense	probably benign	0.18
R4873:Mis18bp1	UTSW	12	65161435	missense	probably benign	0.23
R4875:Mis18bp1	UTSW	12	65161435	missense	probably benign	0.23
R5173:Mis18bp1	UTSW	12	65149375	missense	possibly damaging	0.96
R5294:Mis18bp1	UTSW	12	65157043	missense	probably damaging	1.00
R5540:Mis18bp1	UTSW	12	65148746	missense	possibly damaging	0.83
R5560:Mis18bp1	UTSW	12	65152816	missense	possibly damaging	0.83
R5584:Mis18bp1	UTSW	12	65154776	missense	probably damaging	0.98
R5661:Mis18bp1	UTSW	12	65148852	missense	probably benign	0.41
R6235:Mis18bp1	UTSW	12	65158408	missense	probably damaging	0.99
R6282:Mis18bp1	UTSW	12	65149163	missense	probably benign	0.01
R6284:Mis18bp1	UTSW	12	65138787	missense	probably benign	0.32
R6378:Mis18bp1	UTSW	12	65149247	missense	probably benign	0.11
R6418:Mis18bp1	UTSW	12	65158543	missense	possibly damaging	0.64
R7103:Mis18bp1	UTSW	12	65149283	missense	possibly damaging	0.61
R7244:Mis18bp1	UTSW	12	65161630	missense	probably damaging	0.96
R7371:Mis18bp1	UTSW	12	65158594	missense	probably benign	0.18
R7623:Mis18bp1	UTSW	12	65148852	missense	probably benign	0.05
X0058:Mis18bp1	UTSW	12	65149226	missense	probably damaging	0.99

Posted On

2016-08-02