Mutagenetix > Incidental Mutation

Incidental Mutation 'R6378:Mis18bp1'

515143

Institutional Source

Beutler Lab

Gene Symbol

Mis18bp1

Ensembl Gene

ENSMUSG00000047534

Gene Name

MIS18 binding protein 1

Synonyms

C79407

MMRRC Submission

044528-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65179508-65219363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65196021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 581 (D581G)

Ref Sequence

ENSEMBL: ENSMUSP00000052109 (fasta)

Gene Model

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

AlphaFold

Q80WQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000052201
AA Change: D581G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: D581G

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: ENSMUST00000149986

Predicted Effect

probably benign
Transcript: ENSMUST00000221296

Predicted Effect

probably benign
Transcript: ENSMUST00000222244

Meta Mutation Damage Score

0.1113

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 72,995,774 (GRCm39)	D408E	probably benign	Het
Agpat2	T	C	2: 26,486,147 (GRCm39)	N178S	probably benign	Het
Arsi	T	C	18: 61,049,573 (GRCm39)	F152S	probably damaging	Het
Atp13a2	T	A	4: 140,734,367 (GRCm39)	L1163Q	probably benign	Het
Bpifb2	T	A	2: 153,733,072 (GRCm39)	L385Q	possibly damaging	Het
C330018D20Rik	A	G	18: 57,095,579 (GRCm39)	L2P	probably damaging	Het
Cby3	A	G	11: 50,250,360 (GRCm39)	T189A	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,561 (GRCm39)	D567V	possibly damaging	Het
Cdh5	T	A	8: 104,853,168 (GRCm39)		probably null	Het
Cela1	C	T	15: 100,585,071 (GRCm39)	V20I	probably benign	Het
Cmpk2	G	A	12: 26,519,415 (GRCm39)	G22E	possibly damaging	Het
Ctcf	T	A	8: 106,390,423 (GRCm39)	V10E	possibly damaging	Het
Dpp10	C	A	1: 123,339,468 (GRCm39)	C353F	probably damaging	Het
Efcab3	A	G	11: 104,999,620 (GRCm39)	S5546G	possibly damaging	Het
Elp3	G	T	14: 65,830,420 (GRCm39)	Y10*	probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Eml4	T	A	17: 83,755,646 (GRCm39)	W336R	probably damaging	Het
Erich6	T	C	3: 58,529,780 (GRCm39)		probably null	Het
Eya1	T	C	1: 14,373,027 (GRCm39)	N31D	possibly damaging	Het
Fam81a	T	A	9: 70,017,628 (GRCm39)	N106Y	probably damaging	Het
Frrs1	A	G	3: 116,694,639 (GRCm39)	T487A	possibly damaging	Het
Ganc	T	C	2: 120,264,307 (GRCm39)	M420T	probably damaging	Het
Gimap7	A	T	6: 48,701,116 (GRCm39)	E234V	probably damaging	Het
Gpbp1	T	C	13: 111,570,146 (GRCm39)	N400S	probably damaging	Het
Gucy2g	T	C	19: 55,229,377 (GRCm39)	S98G	probably benign	Het
Hoxd10	T	C	2: 74,524,678 (GRCm39)	I330T	possibly damaging	Het
Ik	T	A	18: 36,890,341 (GRCm39)	I539N	probably damaging	Het
Il17rb	G	A	14: 29,722,320 (GRCm39)	T237I	probably damaging	Het
Ing2	T	A	8: 48,122,293 (GRCm39)	Q85L	probably benign	Het
Lrp4	C	A	2: 91,324,174 (GRCm39)	N1208K	probably benign	Het
Lvrn	T	A	18: 47,028,024 (GRCm39)	S888R	probably benign	Het
Map2	T	C	1: 66,454,488 (GRCm39)	V1126A	probably damaging	Het
Mapkapk5	A	G	5: 121,677,233 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,599,320 (GRCm39)	V3289A	probably benign	Het
Myom2	T	A	8: 15,149,356 (GRCm39)	I609N	probably benign	Het
Nav1	A	T	1: 135,382,433 (GRCm39)	M1343K	probably damaging	Het
Ndufaf1	T	C	2: 119,486,207 (GRCm39)	I302V	probably damaging	Het
Neb	T	A	2: 52,183,733 (GRCm39)	K978N	probably damaging	Het
Nol8	A	G	13: 49,820,831 (GRCm39)	E878G	probably damaging	Het
Nrde2	A	T	12: 100,097,016 (GRCm39)	I928N	probably damaging	Het
Nxf1	T	A	19: 8,741,910 (GRCm39)	D145E	probably benign	Het
Obox3	T	A	7: 15,360,027 (GRCm39)	H214L	probably benign	Het
Obscn	T	C	11: 58,964,572 (GRCm39)	E3199G	probably damaging	Het
Ogfod3	T	C	11: 121,093,761 (GRCm39)	E83G	probably benign	Het
Or11a4	T	A	17: 37,536,688 (GRCm39)	V224E	probably benign	Het
Or2r3	T	G	6: 42,448,687 (GRCm39)	M142L	probably benign	Het
Or6b2	A	G	1: 92,408,178 (GRCm39)	L55P	probably damaging	Het
Or8s8	T	C	15: 98,354,425 (GRCm39)	V78A	probably benign	Het
Pcsk4	G	T	10: 80,164,809 (GRCm39)	H69N	probably benign	Het
Plcl2	C	T	17: 50,975,188 (GRCm39)		probably null	Het
Pmfbp1	T	C	8: 110,256,898 (GRCm39)	I534T	probably damaging	Het
Prss23	A	T	7: 89,159,241 (GRCm39)	I276N	probably damaging	Het
Ramac	A	G	7: 81,417,387 (GRCm39)	Y29C	probably damaging	Het
Rhd	T	A	4: 134,621,696 (GRCm39)	F403Y	possibly damaging	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scg5	A	G	2: 113,657,737 (GRCm39)	V58A	possibly damaging	Het
Scn5a	C	T	9: 119,315,102 (GRCm39)	G1868R	probably damaging	Het
Secisbp2l	A	G	2: 125,610,245 (GRCm39)	S225P	possibly damaging	Het
Sema4f	A	T	6: 82,894,613 (GRCm39)	L486*	probably null	Het
Slc25a47	G	A	12: 108,822,069 (GRCm39)	R286H	probably damaging	Het
Slc5a8	A	C	10: 88,740,916 (GRCm39)	K277T	probably damaging	Het
Slc66a3	T	C	12: 17,047,644 (GRCm39)	Y96C	probably damaging	Het
Sorcs1	T	A	19: 50,213,615 (GRCm39)	E704V	possibly damaging	Het
Sptan1	T	C	2: 29,908,527 (GRCm39)	S1768P	probably damaging	Het
Srd5a2	C	T	17: 74,328,378 (GRCm39)		probably null	Het
Sytl2	A	T	7: 90,007,432 (GRCm39)	K65*	probably null	Het
Tas2r109	T	G	6: 132,957,844 (GRCm39)	I29L	probably benign	Het
Tfap2a	A	T	13: 40,876,717 (GRCm39)	V234E	possibly damaging	Het
Tgfbr3	G	A	5: 107,325,679 (GRCm39)	L128F	probably benign	Het
Trappc12	A	T	12: 28,797,082 (GRCm39)	L150Q	probably damaging	Het
Trim43b	T	A	9: 88,967,452 (GRCm39)	I395L	probably benign	Het
U2surp	C	T	9: 95,373,474 (GRCm39)	E232K	probably benign	Het
Vax1	T	C	19: 59,154,656 (GRCm39)	N327S	probably benign	Het
Vmn1r14	T	C	6: 57,210,587 (GRCm39)	V11A	probably benign	Het
Vmn1r60	A	G	7: 5,547,782 (GRCm39)	V106A	probably damaging	Het
Vmn2r106	T	C	17: 20,498,667 (GRCm39)	S415G	probably benign	Het
Vmn2r3	C	T	3: 64,182,517 (GRCm39)	G394D	probably damaging	Het
Ybx2	A	G	11: 69,831,179 (GRCm39)	E63G	possibly damaging	Het
Zfhx4	T	A	3: 5,308,410 (GRCm39)	N545K	probably benign	Het
Zp1	T	C	19: 10,892,217 (GRCm39)	T56A	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
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
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
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'- CAAATGTGATGAGGACCGGC -3'
(R):5'- AGAAGACACCCGCTTCTCAG -3'

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

Posted On

2018-05-04