Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:Mis18bp1'

405322

Institutional Source

Beutler Lab

Gene Symbol

Mis18bp1

Ensembl Gene

ENSMUSG00000047534

Gene Name

MIS18 binding protein 1

Synonyms

C79407

MMRRC Submission

042877-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65132734-65172604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 65157043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 59 (M59R)

Ref Sequence

ENSEMBL: ENSMUSP00000152132 (fasta)

Gene Model

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

AlphaFold

Q80WQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000052201
AA Change: M342R

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: M342R

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

noncoding transcript
Transcript: ENSMUST00000149986

Predicted Effect

probably damaging
Transcript: ENSMUST00000221296
AA Change: M59R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000222244
AA Change: M342R

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.8195

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,152,003		noncoding transcript	Het
Acaca	A	G	11: 84,391,519	E2154G	probably benign	Het
Acacb	T	C	5: 114,241,952	F2056L	probably damaging	Het
Aff1	A	G	5: 103,811,157		probably benign	Het
Amn1	T	A	6: 149,185,124		probably benign	Het
Arid1a	C	A	4: 133,691,055		probably benign	Het
Aste1	T	A	9: 105,402,705		probably null	Het
Asxl3	T	A	18: 22,516,439	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,988,048	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,628,766	L207P	probably damaging	Het
Baz2b	T	C	2: 59,978,602	H101R	probably benign	Het
Bicc1	G	A	10: 70,947,900	T387M	possibly damaging	Het
Champ1	A	C	8: 13,878,981	K380Q	probably damaging	Het
Cnst	A	G	1: 179,610,440	E523G	probably benign	Het
Cops6	G	C	5: 138,161,116		probably benign	Het
Cp	G	C	3: 19,966,316	V158L	probably benign	Het
Cyfip1	T	A	7: 55,873,483	M52K	possibly damaging	Het
Dars	A	T	1: 128,364,302	F480I	probably benign	Het
Diaph1	T	C	18: 37,897,580	M274V	unknown	Het
Diaph1	C	A	18: 37,897,550	E284*	probably null	Het
Dock8	G	A	19: 25,061,153	V68M	probably benign	Het
Elavl4	A	G	4: 110,211,430	F247L	possibly damaging	Het
Emc10	C	T	7: 44,496,439		probably benign	Het
Fbxw16	T	C	9: 109,436,644	D369G	probably benign	Het
Fgr	A	T	4: 132,997,500	D304V	probably benign	Het
Filip1l	G	A	16: 57,570,036	S91N	possibly damaging	Het
Gm884	A	G	11: 103,616,231		probably benign	Het
Haus8	A	G	8: 71,255,710	S103P	unknown	Het
Hscb	A	G	5: 110,834,792	L143P	probably damaging	Het
Hsd11b2	A	T	8: 105,523,297	M347L	probably benign	Het
Jrk	C	A	15: 74,707,336	E33D	possibly damaging	Het
Kbtbd8	T	A	6: 95,121,832	Y123*	probably null	Het
Mrps27	T	C	13: 99,409,873	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,427,794	V488L	possibly damaging	Het
Nepn	A	T	10: 52,400,800	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,517,506		probably null	Het
Olfr248	A	T	1: 174,391,225	Y52F	probably benign	Het
Olfr692	C	T	7: 105,368,413	T20I	probably benign	Het
Olfr748	A	G	14: 50,710,779	I150V	probably benign	Het
Olfr748	A	G	14: 50,710,443	T38A	possibly damaging	Het
Otud4	A	T	8: 79,672,892	Q744L	possibly damaging	Het
P2ry14	A	T	3: 59,115,568	I166N	possibly damaging	Het
Pak2	T	A	16: 32,021,830	N478Y	probably damaging	Het
Papss2	A	G	19: 32,639,000	D202G	probably benign	Het
Pcdh7	C	A	5: 57,728,111		probably null	Het
Peg3	C	A	7: 6,717,849	S19I	possibly damaging	Het
Prim2	G	T	1: 33,668,893	T40K	probably benign	Het
Ranbp2	T	C	10: 58,478,668	F1737L	probably benign	Het
Rex2	A	C	4: 147,057,985	N310T	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rnf39	C	T	17: 36,947,200	A86V	probably damaging	Het
Ror1	A	T	4: 100,425,938	N400I	probably benign	Het
Slc38a8	C	T	8: 119,494,289	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,956,310	V445A	probably benign	Het
Sptbn2	A	G	19: 4,718,908	N23S	possibly damaging	Het
Taf5l	A	G	8: 124,008,218	F74L	probably benign	Het
Trappc11	G	C	8: 47,530,731	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,472,488	K350R	probably damaging	Het
Trnt1	T	C	6: 106,773,414	F93S	probably damaging	Het
Ube2c	T	C	2: 164,777,190	V161A	probably benign	Het
Usp24	A	G	4: 106,362,357	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,651,864	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,455,113	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,069,754	C517*	probably null	Het
Vps13a	A	T	19: 16,641,667	I2845N	probably damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Xpo5	T	C	17: 46,236,922	V896A	probably benign	Het
Zfp2	T	C	11: 50,901,241		probably benign	Het
Zgrf1	G	A	3: 127,600,980	M1328I	probably benign	Het
Zswim5	A	G	4: 116,979,577	D686G	possibly 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
IGL03031:Mis18bp1	APN	12	65161930	missense	probably benign
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
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
R7845:Mis18bp1	UTSW	12	65149328	missense	probably benign	0.01
R7898:Mis18bp1	UTSW	12	65149472	missense	probably benign	0.41
R7912:Mis18bp1	UTSW	12	65152758	missense	possibly damaging	0.92
R8057:Mis18bp1	UTSW	12	65148899	missense	possibly damaging	0.56
R8403:Mis18bp1	UTSW	12	65154811	missense	possibly damaging	0.87
R8834:Mis18bp1	UTSW	12	65161645	missense	probably benign	0.00
R8905:Mis18bp1	UTSW	12	65133627	critical splice acceptor site	probably null
R8996:Mis18bp1	UTSW	12	65133858	missense	probably benign	0.24
R9007:Mis18bp1	UTSW	12	65133842	missense	probably benign	0.28
R9257:Mis18bp1	UTSW	12	65133857	missense	probably benign	0.14
R9299:Mis18bp1	UTSW	12	65138764	missense	possibly damaging	0.94
R9534:Mis18bp1	UTSW	12	65158460	missense	possibly damaging	0.68
R9593:Mis18bp1	UTSW	12	65140854	missense	probably damaging	1.00
R9716:Mis18bp1	UTSW	12	65158563	start gained	probably benign
X0058:Mis18bp1	UTSW	12	65149226	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCAAGGCACTGATGTCATG -3'
(R):5'- AGCCATATAGTACAGCCTCAGTTAAG -3'

Sequencing Primer
(F):5'- GCAAGGCACTGATGTCATGTTTTAC -3'
(R):5'- GTACAGCCTCAGTTAAGTTTCTG -3'

Posted On

2016-07-22