Mutagenetix > Incidental Mutation

Incidental Mutation 'R1169:Mis18bp1'

101541

Institutional Source

Beutler Lab

Gene Symbol

Mis18bp1

Ensembl Gene

ENSMUSG00000047534

Gene Name

MIS18 binding protein 1

Synonyms

C79407

MMRRC Submission

039242-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65179508-65219363 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 65190057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 793 (Q793*)

Ref Sequence

ENSEMBL: ENSMUSP00000052109 (fasta)

Gene Model

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

AlphaFold

Q80WQ8

Predicted Effect

probably null
Transcript: ENSMUST00000052201
AA Change: Q793*

SMART Domains

Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: Q793*

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: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,419,781 (GRCm39)	E275G	probably damaging	Het
Adam10	T	A	9: 70,653,574 (GRCm39)	I123N	probably damaging	Het
Adam8	A	T	7: 139,563,842 (GRCm39)	L715Q	probably benign	Het
Adcyap1r1	T	A	6: 55,471,101 (GRCm39)	F418L	probably damaging	Het
Ankrd50	A	T	3: 38,508,401 (GRCm39)	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468 (GRCm38)	S389P	possibly damaging	Het
C4b	A	T	17: 34,961,946 (GRCm39)	L100Q	probably benign	Het
Cacul1	G	A	19: 60,568,846 (GRCm39)	A104V	probably damaging	Het
Camsap3	T	C	8: 3,653,866 (GRCm39)	F512S	probably damaging	Het
Casp1	T	C	9: 5,299,454 (GRCm39)	V61A	possibly damaging	Het
Cfap251	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,392,673 (GRCm39)		probably benign	Het
Chd1	T	A	17: 15,955,994 (GRCm39)	F531Y	probably damaging	Het
Clec2h	C	T	6: 128,651,758 (GRCm39)	Q156*	probably null	Het
Clip2	T	A	5: 134,521,104 (GRCm39)	E978V	probably benign	Het
Cnpy2	T	G	10: 128,159,465 (GRCm39)	L34R	probably damaging	Het
Cog6	A	T	3: 52,921,265 (GRCm39)	C114S	probably benign	Het
Col6a3	A	T	1: 90,749,736 (GRCm39)	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,774,173 (GRCm39)		probably null	Het
Cplx3	T	C	9: 57,517,278 (GRCm39)	T369A	probably damaging	Het
Dmbt1	G	A	7: 130,676,254 (GRCm39)		probably null	Het
Dok1	A	G	6: 83,009,029 (GRCm39)	F218L	possibly damaging	Het
Dph7	T	A	2: 24,856,583 (GRCm39)	N178K	probably benign	Het
Enam	A	T	5: 88,651,117 (GRCm39)	E800D	probably damaging	Het
Fads3	A	T	19: 10,031,463 (GRCm39)	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,240,433 (GRCm39)	H265R	probably benign	Het
Gli1	T	A	10: 127,174,320 (GRCm39)	S24C	probably damaging	Het
Gm4894	T	A	9: 49,185,526 (GRCm39)	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,431,563 (GRCm39)	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,552,331 (GRCm39)	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,499,161 (GRCm39)	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,432,419 (GRCm39)	F285C	probably benign	Het
Igf1r	G	T	7: 67,814,875 (GRCm39)	V259L	probably benign	Het
Igf2bp2	A	T	16: 21,897,480 (GRCm39)	Y244*	probably null	Het
Ighg2c	A	T	12: 113,249,572 (GRCm39)		probably benign	Het
Ighv8-14	A	T	12: 115,772,075 (GRCm39)		probably null	Het
Iqsec2	A	G	X: 150,927,727 (GRCm39)	S87G	probably benign	Het
Itsn2	A	G	12: 4,689,694 (GRCm39)	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,420,495 (GRCm39)	E38D	possibly damaging	Het
Krt42	T	G	11: 100,154,171 (GRCm39)		probably null	Het
Lpo	T	C	11: 87,708,143 (GRCm39)	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,736,764 (GRCm39)	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,302,240 (GRCm39)	D99V	probably damaging	Het
Lyplal1	T	C	1: 185,846,531 (GRCm39)	I42V	probably benign	Het
Myh10	T	G	11: 68,653,667 (GRCm39)	M346R	probably damaging	Het
Nav1	G	T	1: 135,382,943 (GRCm39)	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,875,744 (GRCm39)	V1642A	probably benign	Het
Or4d6	C	T	19: 12,086,853 (GRCm39)	R19H	probably benign	Het
Or8b12i	T	C	9: 20,082,354 (GRCm39)	N171S	probably benign	Het
Or8i2	A	G	2: 86,852,061 (GRCm39)	F276L	probably damaging	Het
Or8k28	A	G	2: 86,285,931 (GRCm39)	I228T	possibly damaging	Het
Orm3	G	A	4: 63,276,085 (GRCm39)	V166M	probably damaging	Het
Oxct1	T	A	15: 4,120,708 (GRCm39)	I264N	probably damaging	Het
Paox	G	A	7: 139,706,244 (GRCm39)	V55I	probably benign	Het
Pde4d	C	A	13: 110,087,462 (GRCm39)		probably null	Het
Pnliprp1	A	G	19: 58,723,383 (GRCm39)	N258S	probably damaging	Het
Potegl	A	G	2: 23,146,994 (GRCm39)	K275E	possibly damaging	Het
Prl7b1	C	A	13: 27,790,887 (GRCm39)	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,269,341 (GRCm39)	C261F	probably benign	Het
Rho	C	G	6: 115,909,199 (GRCm39)	N78K	probably damaging	Het
Rnf17	A	G	14: 56,751,622 (GRCm39)	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,563,359 (GRCm39)	T2922I	probably benign	Het
Saxo2	A	C	7: 82,284,379 (GRCm39)	F160V	possibly damaging	Het
Sbf2	A	T	7: 109,909,391 (GRCm39)	Y1786N	probably benign	Het
Sdad1	A	T	5: 92,446,092 (GRCm39)	V280E	probably benign	Het
Sgsm1	T	C	5: 113,427,351 (GRCm39)	D90G	probably damaging	Het
Siglec1	A	T	2: 130,916,747 (GRCm39)	D1169E	probably damaging	Het
Sim1	T	A	10: 50,857,618 (GRCm39)	V456E	probably benign	Het
Skint8	T	A	4: 111,785,710 (GRCm39)	I52N	possibly damaging	Het
Slc27a1	C	A	8: 72,033,297 (GRCm39)	R280S	probably benign	Het
Slc9a3	G	A	13: 74,298,862 (GRCm39)	V94I	probably damaging	Het
Sorcs2	C	A	5: 36,185,269 (GRCm39)	V936L	possibly damaging	Het
Syce1	A	G	7: 140,358,120 (GRCm39)	F255S	probably benign	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem200a	T	A	10: 25,870,246 (GRCm39)	I8F	probably damaging	Het
Trip6	T	C	5: 137,310,182 (GRCm39)	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,400,517 (GRCm39)	N177K	probably benign	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
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
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

Posted On

2014-01-15