Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Mis18bp1'

551006

Institutional Source

Beutler Lab

Gene Symbol

Mis18bp1

Ensembl Gene

ENSMUSG00000047534

Gene Name

MIS18 binding protein 1

Synonyms

C79407

MMRRC Submission

045195-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65132734-65172604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65149283 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 569 (E569G)

Ref Sequence

ENSEMBL: ENSMUSP00000052109 (fasta)

Gene Model

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

AlphaFold

Q80WQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052201
AA Change: E569G

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: E569G

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: ENSMUST00000221296

Predicted Effect

probably benign
Transcript: ENSMUST00000222244

Meta Mutation Damage Score

0.0902

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,737,354	T294A	probably damaging	Het
Adamtsl2	G	A	2: 27,107,461	V893I	probably damaging	Het
Amph	T	A	13: 19,149,738	D656E	probably benign	Het
Aoah	T	C	13: 21,023,315	F568S	probably damaging	Het
Atr	G	A	9: 95,865,372	G236S	probably damaging	Het
Brd3	T	A	2: 27,450,394	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,141,977	E524G	probably damaging	Het
Cog2	T	C	8: 124,541,114		probably null	Het
Csnka2ip	C	A	16: 64,478,757	V415F	unknown	Het
Dmp1	A	T	5: 104,211,863	D135V	probably damaging	Het
Dtna	T	C	18: 23,653,379		probably null	Het
Endou	A	G	15: 97,718,929	S238P	probably damaging	Het
Ep400	T	A	5: 110,733,785	E779D	unknown	Het
Fcgbp	A	G	7: 28,084,962	E149G	probably benign	Het
G6pc	C	A	11: 101,374,587		probably null	Het
Gm13119	C	T	4: 144,363,727	R446C	probably benign	Het
Gm9573	C	A	17: 35,621,540	A585S	unknown	Het
Gmeb1	T	C	4: 132,234,868	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,401,606	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,254,511	G199D	probably benign	Het
Hoxb2	T	C	11: 96,353,621	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,325,074	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,540,583		probably null	Het
Kcnmb4	T	C	10: 116,473,259	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,077,785	Y89C	probably damaging	Het
Kif23	T	A	9: 61,919,892	K892N	probably damaging	Het
Lama3	T	A	18: 12,531,879	S646T	probably benign	Het
Lig3	T	A	11: 82,797,312	M709K	probably benign	Het
Mgea5	G	A	19: 45,783,166		probably benign	Het
Mindy3	C	A	2: 12,401,074	A137S	possibly damaging	Het
Misp	T	A	10: 79,827,165	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,601,410	T303S	probably damaging	Het
Msh3	T	G	13: 92,274,800	I630L	probably benign	Het
Myo16	A	G	8: 10,569,673	Y1408C	unknown	Het
N4bp2	T	C	5: 65,806,846	V746A	probably benign	Het
Olfr1225	A	G	2: 89,170,483	I243T	possibly damaging	Het
Olfr1423	A	G	19: 12,036,388	M118T	probably damaging	Het
Olfr477	A	G	7: 107,990,598	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,596,351	M44I	probably null	Het
Pik3c2b	T	G	1: 133,105,974	L1572R	probably damaging	Het
Pilra	T	C	5: 137,831,226	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,573,631	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,066,655	D619G	probably benign	Het
Ptprb	T	A	10: 116,338,813	Y797N	probably damaging	Het
Rb1	T	C	14: 73,262,644	D521G	probably damaging	Het
Rnf17	T	G	14: 56,471,306	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,311,471	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,353,867	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,543,857	V634A	probably benign	Het
Spam1	A	G	6: 24,800,584	M441V	probably benign	Het
Teddm3	A	C	16: 21,152,979	L280*	probably null	Het
Tmem231	T	C	8: 111,918,885		probably null	Het
Tom1l1	T	C	11: 90,671,081		probably null	Het
Topors	C	T	4: 40,261,706	G526D	probably benign	Het
Trpm6	A	T	19: 18,813,547	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,774,428	M66L	probably benign	Het
Tubgcp6	A	G	15: 89,101,029	F1619L	probably damaging	Het
Vps13d	G	T	4: 145,115,492	A2619E		Het
Vps8	G	A	16: 21,526,441	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,800	M86L	probably benign	Het
Zfp64	A	T	2: 168,926,437	D418E	probably benign	Het
Zfp952	C	T	17: 33,003,632	P362S	possibly damaging	Het
Zglp1	T	C	9: 21,066,072	E149G	probably benign	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
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
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'- GAGGACCGGCAATACTGTGATAC -3'
(R):5'- AGAAGACACCCGCTTCTCAG -3'

Sequencing Primer
(F):5'- CGGCAATACTGTGATACACCTATTTG -3'
(R):5'- TCTCAGTCAGAAGAGAGCTTATG -3'

Posted On

2019-05-15