Mutagenetix > Incidental Mutation

Incidental Mutation 'R3120:Mis18bp1'

263184

Institutional Source

Beutler Lab

Gene Symbol

Mis18bp1

Ensembl Gene

ENSMUSG00000047534

Gene Name

MIS18 binding protein 1

Synonyms

C79407

MMRRC Submission

040593-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3120 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65179508-65219363 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 65203762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152490 (fasta)

Gene Model

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

AlphaFold

Q80WQ8

Predicted Effect

probably null
Transcript: ENSMUST00000052201

SMART Domains

Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534

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 null
Transcript: ENSMUST00000221296

Predicted Effect

probably null
Transcript: ENSMUST00000222244

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bsx	A	G	9: 40,788,908 (GRCm39)	K155R	possibly damaging	Het
Ccdc39	T	C	3: 33,891,987 (GRCm39)	K162E	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dnah1	G	A	14: 30,988,779 (GRCm39)	R3351*	probably null	Het
Eml1	A	G	12: 108,479,312 (GRCm39)	R362G	probably benign	Het
Fam222b	T	C	11: 78,044,742 (GRCm39)	L101P	probably damaging	Het
Fars2	A	G	13: 36,430,400 (GRCm39)	E276G	probably damaging	Het
Gatad1	G	T	5: 3,691,456 (GRCm39)	Y33*	probably null	Het
Gclc	A	C	9: 77,688,552 (GRCm39)	E219A	possibly damaging	Het
Gm4846	A	G	1: 166,319,117 (GRCm39)	V207A	probably benign	Het
H1f5	A	T	13: 21,964,215 (GRCm39)	S170R	probably benign	Het
Hbq1a	T	C	11: 32,250,472 (GRCm39)	L87P	probably damaging	Het
Magea6	A	T	X: 153,707,291 (GRCm39)	I255N	probably benign	Het
Mfsd12	T	G	10: 81,197,049 (GRCm39)	V206G	probably benign	Het
Nf1	C	A	11: 79,455,725 (GRCm39)	T550K	probably damaging	Het
Nlrp4f	T	C	13: 65,342,530 (GRCm39)	T372A	probably benign	Het
Or5p70	T	C	7: 107,994,930 (GRCm39)	I201T	possibly damaging	Het
Pkdcc	T	C	17: 83,527,466 (GRCm39)	Y215H	probably damaging	Het
Plekha5	A	G	6: 140,537,367 (GRCm39)	T253A	probably benign	Het
Polr2f	T	A	15: 79,028,788 (GRCm39)		probably null	Het
Prph2	C	T	17: 47,234,298 (GRCm39)	A289V	possibly damaging	Het
Ptdss2	C	T	7: 140,732,132 (GRCm39)	H140Y	probably damaging	Het
Rlf	T	A	4: 121,006,680 (GRCm39)	I877L	probably benign	Het
Scgb2b2	T	C	7: 31,003,001 (GRCm39)	L32S	possibly damaging	Het
Sfpq	T	A	4: 126,915,926 (GRCm39)	H239Q	unknown	Het
St6gal2	A	T	17: 55,789,111 (GRCm39)	R48S	probably benign	Het
Sybu	T	C	15: 44,536,355 (GRCm39)	D657G	possibly damaging	Het
Syt15	A	G	14: 33,944,950 (GRCm39)	I166V	probably benign	Het
Taar7f	C	A	10: 23,925,478 (GRCm39)	T24K	probably benign	Het
Tbcd	T	C	11: 121,499,474 (GRCm39)	S1093P	probably damaging	Het
Tfap2c	G	A	2: 172,399,015 (GRCm39)	V396M	possibly damaging	Het
Tnxb	C	T	17: 34,911,329 (GRCm39)	T1544I	possibly damaging	Het
Trim28	A	G	7: 12,762,341 (GRCm39)	T322A	probably damaging	Het
Tubgcp3	G	A	8: 12,707,626 (GRCm39)	A121V	possibly damaging	Het
Vmn2r14	A	T	5: 109,372,431 (GRCm39)	W20R	probably null	Het
Zfp551	A	G	7: 12,149,943 (GRCm39)	F489L	possibly 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
R2318:Mis18bp1	UTSW	12	65,187,617 (GRCm39)	missense	possibly damaging	0.92
R2897:Mis18bp1	UTSW	12	65,180,360 (GRCm39)	missense	probably benign	0.09
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'- ATGCGTTCACTTTGGAGAACC -3'
(R):5'- CATGGGGCTTTTCTTGTAATTCAC -3'

Sequencing Primer
(F):5'- GTGTCAATTAACATGTAACTACTGGG -3'
(R):5'- CACATTTTCTAATGCTAAATGCTGAC -3'

Posted On

2015-02-05