Mutagenetix > Incidental Mutation

Incidental Mutation 'R5584:Mis18bp1'

438626

Institutional Source

Beutler Lab

Gene Symbol

Mis18bp1

Ensembl Gene

ENSMUSG00000047534

Gene Name

MIS18 binding protein 1

Synonyms

C79407

MMRRC Submission

043138-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5584 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65179508-65219363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65201550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 384 (S384T)

Ref Sequence

ENSEMBL: ENSMUSP00000152490 (fasta)

Gene Model

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

AlphaFold

Q80WQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000052201
AA Change: S384T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: S384T

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

possibly damaging
Transcript: ENSMUST00000221296
AA Change: S101T

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222244
AA Change: S384T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,553,386 (GRCm39)	G5496D	probably damaging	Het
Akr1c19	A	T	13: 4,293,031 (GRCm39)	Q262H	probably damaging	Het
Cntn5	T	C	9: 9,661,457 (GRCm39)	T1070A	possibly damaging	Het
Efcab14	T	C	4: 115,621,794 (GRCm39)	V358A	possibly damaging	Het
Epb41l4a	G	T	18: 33,987,324 (GRCm39)	T351N	probably damaging	Het
Etaa1	A	T	11: 17,897,406 (GRCm39)	V237E	possibly damaging	Het
Ezh2	A	T	6: 47,508,950 (GRCm39)	N684K	probably damaging	Het
Flnc	A	G	6: 29,446,627 (GRCm39)	T946A	probably damaging	Het
Fstl5	T	A	3: 76,229,574 (GRCm39)	I125N	probably damaging	Het
Gcsam	A	C	16: 45,440,226 (GRCm39)	I90L	probably benign	Het
Glrx	T	A	13: 75,995,341 (GRCm39)	I87N	probably benign	Het
Hivep1	T	A	13: 42,313,593 (GRCm39)	N1944K	probably benign	Het
Lrp2	T	C	2: 69,281,632 (GRCm39)	D3913G	probably damaging	Het
Ltb4r1	T	A	14: 56,004,844 (GRCm39)	M49K	possibly damaging	Het
Mbip	A	G	12: 56,382,647 (GRCm39)	I273T	probably damaging	Het
Nlrp4e	T	G	7: 23,020,602 (GRCm39)	I363S	probably benign	Het
Nrg3	CCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGC	14: 39,194,654 (GRCm39)		probably benign	Het
Pcdha11	C	A	18: 37,139,818 (GRCm39)	D482E	probably damaging	Het
Plppr3	T	C	10: 79,702,286 (GRCm39)	Y262C	probably damaging	Het
Ppip5k2	T	C	1: 97,678,366 (GRCm39)	K284E	probably damaging	Het
Rabggta	T	C	14: 55,958,289 (GRCm39)	N124S	probably benign	Het
Rbm46	C	A	3: 82,771,465 (GRCm39)	M383I	probably benign	Het
Rfx1	G	A	8: 84,814,706 (GRCm39)		probably null	Het
Sema3d	T	C	5: 12,615,975 (GRCm39)	V493A	possibly damaging	Het
Sema3d	T	C	5: 12,620,954 (GRCm39)	V520A	possibly damaging	Het
Sis	C	G	3: 72,817,748 (GRCm39)	W1488C	probably damaging	Het
Slc6a20a	A	G	9: 123,469,753 (GRCm39)	F411S	probably damaging	Het
Srcap	T	A	7: 127,127,651 (GRCm39)	N405K	probably damaging	Het
Thnsl1	C	T	2: 21,218,223 (GRCm39)	P138L	probably damaging	Het
Trim27	T	A	13: 21,376,719 (GRCm39)	I489N	probably damaging	Het
Triobp	G	A	15: 78,852,332 (GRCm39)	V829I	possibly damaging	Het
Unc119	A	G	11: 78,239,396 (GRCm39)	D217G	probably damaging	Het
Ushbp1	T	C	8: 71,843,623 (GRCm39)	T272A	possibly damaging	Het
Zfpm2	A	T	15: 40,965,933 (GRCm39)	N806I	probably benign	Het
Znrf3	T	C	11: 5,236,218 (GRCm39)	E164G	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
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
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'- AAAAGTCGTGATTGTGTGGGAC -3'
(R):5'- CAGTTGAATTCTGTACTGGTTAGTCC -3'

Sequencing Primer
(F):5'- ACACTACAAGGGGTCGGGTC -3'
(R):5'- CCCTCGTTGGCATGGAACTTAG -3'

Posted On

2016-10-26