Mutagenetix > Incidental Mutation

Incidental Mutation 'R2318:Mis18bp1'

245566

Institutional Source

Beutler Lab

Gene Symbol

Mis18bp1

Ensembl Gene

ENSMUSG00000047534

Gene Name

MIS18 binding protein 1

Synonyms

C79407

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65179508-65219363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65187617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 829 (V829M)

Ref Sequence

ENSEMBL: ENSMUSP00000052109 (fasta)

Gene Model

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

AlphaFold

Q80WQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052201
AA Change: V829M

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: V829M

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

noncoding transcript
Transcript: ENSMUST00000140391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141456

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef10	G	A	8: 14,978,855 (GRCm39)	A41T	probably damaging	Het
Car15	T	C	16: 17,654,463 (GRCm39)	M158V	probably benign	Het
Cinp	C	A	12: 110,840,443 (GRCm39)	W113L	probably damaging	Het
Col4a3	T	A	1: 82,626,290 (GRCm39)		probably null	Het
Csnk2b	T	C	17: 35,337,037 (GRCm39)	Y101C	possibly damaging	Het
Ddb1	C	T	19: 10,603,992 (GRCm39)	R900C	probably damaging	Het
Eif4g2	A	G	7: 110,673,065 (GRCm39)	F876L	possibly damaging	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
H4c4	A	G	13: 23,765,739 (GRCm39)	Y52C	probably damaging	Het
Mast1	T	C	8: 85,647,754 (GRCm39)	D540G	probably damaging	Het
Mtus2	C	T	5: 148,043,892 (GRCm39)	R827*	probably null	Het
Nlrp9a	G	A	7: 26,273,277 (GRCm39)	V860M	probably damaging	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prr14l	T	C	5: 32,987,422 (GRCm39)	E691G	probably benign	Het
Rad1	A	G	15: 10,490,495 (GRCm39)	N154S	probably benign	Het
Sanbr	A	G	11: 23,538,701 (GRCm39)	Y66H	probably damaging	Het
Slc10a4-ps	T	C	5: 72,743,638 (GRCm39)	T27A	probably benign	Het
Smc2	T	C	4: 52,446,030 (GRCm39)	S133P	probably damaging	Het
Sstr1	T	A	12: 58,259,562 (GRCm39)	S62T	possibly damaging	Het
Thsd7a	T	C	6: 12,405,146 (GRCm39)	Y766C	probably damaging	Het
Timm44	A	G	8: 4,318,307 (GRCm39)	V129A	probably benign	Het
Tinag	T	C	9: 76,952,693 (GRCm39)	Y97C	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ubap2	A	G	4: 41,251,542 (GRCm39)	V30A	probably damaging	Het

Other mutations in Mis18bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Mis18bp1	APN	12	65,205,215 (GRCm39)	missense	possibly damaging	0.68
IGL01383:Mis18bp1	APN	12	65,195,763 (GRCm39)	missense	probably benign	0.05
IGL01736:Mis18bp1	APN	12	65,185,452 (GRCm39)	missense	probably damaging	1.00
IGL02037:Mis18bp1	APN	12	65,183,522 (GRCm39)	critical splice donor site	probably null
IGL02210:Mis18bp1	APN	12	65,183,605 (GRCm39)	nonsense	probably null
IGL02318:Mis18bp1	APN	12	65,205,515 (GRCm39)	missense	probably benign	0.04
IGL02541:Mis18bp1	APN	12	65,208,234 (GRCm39)	missense	probably damaging	0.97
IGL02664:Mis18bp1	APN	12	65,200,654 (GRCm39)	nonsense	probably null
IGL02838:Mis18bp1	APN	12	65,183,600 (GRCm39)	missense	probably damaging	0.99
IGL03031:Mis18bp1	APN	12	65,208,704 (GRCm39)	missense	probably benign
PIT4453001:Mis18bp1	UTSW	12	65,205,447 (GRCm39)	missense	probably damaging	0.98
R0555:Mis18bp1	UTSW	12	65,208,227 (GRCm39)	missense	possibly damaging	0.94
R1169:Mis18bp1	UTSW	12	65,190,057 (GRCm39)	nonsense	probably null
R1517:Mis18bp1	UTSW	12	65,180,587 (GRCm39)	missense	probably benign	0.03
R1702:Mis18bp1	UTSW	12	65,208,518 (GRCm39)	missense	probably benign
R1705:Mis18bp1	UTSW	12	65,196,113 (GRCm39)	missense	probably benign	0.19
R1888:Mis18bp1	UTSW	12	65,196,102 (GRCm39)	missense	probably benign	0.01
R1888:Mis18bp1	UTSW	12	65,196,102 (GRCm39)	missense	probably benign	0.01
R1973:Mis18bp1	UTSW	12	65,195,850 (GRCm39)	nonsense	probably null
R1990:Mis18bp1	UTSW	12	65,205,468 (GRCm39)	missense	probably benign	0.03
R2023:Mis18bp1	UTSW	12	65,195,883 (GRCm39)	missense	probably damaging	0.97
R2043:Mis18bp1	UTSW	12	65,196,192 (GRCm39)	missense	probably damaging	1.00
R2897:Mis18bp1	UTSW	12	65,180,360 (GRCm39)	missense	probably benign	0.09
R3120:Mis18bp1	UTSW	12	65,203,762 (GRCm39)	splice site	probably null
R3845:Mis18bp1	UTSW	12	65,195,916 (GRCm39)	missense	possibly damaging	0.61
R4578:Mis18bp1	UTSW	12	65,200,655 (GRCm39)	missense	probably damaging	1.00
R4590:Mis18bp1	UTSW	12	65,205,280 (GRCm39)	missense	possibly damaging	0.50
R4614:Mis18bp1	UTSW	12	65,200,303 (GRCm39)	intron	probably benign
R4626:Mis18bp1	UTSW	12	65,187,540 (GRCm39)	missense	probably damaging	1.00
R4724:Mis18bp1	UTSW	12	65,205,513 (GRCm39)	missense	probably benign	0.18
R4873:Mis18bp1	UTSW	12	65,208,209 (GRCm39)	missense	probably benign	0.23
R4875:Mis18bp1	UTSW	12	65,208,209 (GRCm39)	missense	probably benign	0.23
R5173:Mis18bp1	UTSW	12	65,196,149 (GRCm39)	missense	possibly damaging	0.96
R5294:Mis18bp1	UTSW	12	65,203,817 (GRCm39)	missense	probably damaging	1.00
R5540:Mis18bp1	UTSW	12	65,195,520 (GRCm39)	missense	possibly damaging	0.83
R5560:Mis18bp1	UTSW	12	65,199,590 (GRCm39)	missense	possibly damaging	0.83
R5584:Mis18bp1	UTSW	12	65,201,550 (GRCm39)	missense	probably damaging	0.98
R5661:Mis18bp1	UTSW	12	65,195,626 (GRCm39)	missense	probably benign	0.41
R6235:Mis18bp1	UTSW	12	65,205,182 (GRCm39)	missense	probably damaging	0.99
R6282:Mis18bp1	UTSW	12	65,195,937 (GRCm39)	missense	probably benign	0.01
R6284:Mis18bp1	UTSW	12	65,185,561 (GRCm39)	missense	probably benign	0.32
R6378:Mis18bp1	UTSW	12	65,196,021 (GRCm39)	missense	probably benign	0.11
R6418:Mis18bp1	UTSW	12	65,205,317 (GRCm39)	missense	possibly damaging	0.64
R7103:Mis18bp1	UTSW	12	65,196,057 (GRCm39)	missense	possibly damaging	0.61
R7244:Mis18bp1	UTSW	12	65,208,404 (GRCm39)	missense	probably damaging	0.96
R7371:Mis18bp1	UTSW	12	65,205,368 (GRCm39)	missense	probably benign	0.18
R7623:Mis18bp1	UTSW	12	65,195,626 (GRCm39)	missense	probably benign	0.05
R7845:Mis18bp1	UTSW	12	65,196,102 (GRCm39)	missense	probably benign	0.01
R7898:Mis18bp1	UTSW	12	65,196,246 (GRCm39)	missense	probably benign	0.41
R7912:Mis18bp1	UTSW	12	65,199,532 (GRCm39)	missense	possibly damaging	0.92
R8057:Mis18bp1	UTSW	12	65,195,673 (GRCm39)	missense	possibly damaging	0.56
R8403:Mis18bp1	UTSW	12	65,201,585 (GRCm39)	missense	possibly damaging	0.87
R8834:Mis18bp1	UTSW	12	65,208,419 (GRCm39)	missense	probably benign	0.00
R8905:Mis18bp1	UTSW	12	65,180,401 (GRCm39)	critical splice acceptor site	probably null
R8996:Mis18bp1	UTSW	12	65,180,632 (GRCm39)	missense	probably benign	0.24
R9007:Mis18bp1	UTSW	12	65,180,616 (GRCm39)	missense	probably benign	0.28
R9257:Mis18bp1	UTSW	12	65,180,631 (GRCm39)	missense	probably benign	0.14
R9299:Mis18bp1	UTSW	12	65,185,538 (GRCm39)	missense	possibly damaging	0.94
R9534:Mis18bp1	UTSW	12	65,205,234 (GRCm39)	missense	possibly damaging	0.68
R9593:Mis18bp1	UTSW	12	65,187,628 (GRCm39)	missense	probably damaging	1.00
R9716:Mis18bp1	UTSW	12	65,205,337 (GRCm39)	start gained	probably benign
X0058:Mis18bp1	UTSW	12	65,196,000 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTACAGATCATGGACTTTCCTTTTAG -3'
(R):5'- TAAGTCATTCTTAGGACAAAACAGG -3'

Sequencing Primer
(F):5'- ATTCTTTGTTTCTGCAAGGG -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'

Posted On

2014-10-30