Mutagenetix > Incidental Mutation

Incidental Mutation 'R0555:Mis18bp1'

45503

Institutional Source

Beutler Lab

Gene Symbol

Mis18bp1

Ensembl Gene

ENSMUSG00000047534

Gene Name

MIS18 binding protein 1

Synonyms

C79407

MMRRC Submission

038747-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0555 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

65132734-65172604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65161453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 162 (I162N)

Ref Sequence

ENSEMBL: ENSMUSP00000152490 (fasta)

Gene Model

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

AlphaFold

Q80WQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052201
AA Change: I162N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: I162N

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

probably benign
Transcript: ENSMUST00000221296

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222244
AA Change: I162N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,754,234	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,671		probably benign	Het
Asap1	A	G	15: 64,094,364	L941P	probably damaging	Het
Aurka	G	A	2: 172,367,147	R23C	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,290,504	A418T	possibly damaging	Het
Cpxm2	A	T	7: 132,044,043	Y715*	probably null	Het
Csmd1	T	C	8: 16,185,273	M1179V	probably benign	Het
Ddx21	A	T	10: 62,587,528	F632I	probably damaging	Het
Dnaic1	C	A	4: 41,625,335	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,431,542	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,214,518		probably null	Het
Dync1li2	A	T	8: 104,420,665	S466T	probably benign	Het
Ears2	T	C	7: 122,048,444	T206A	probably benign	Het
Elmod1	A	T	9: 53,931,592		probably benign	Het
Eps8l3	C	A	3: 107,892,345	D590E	probably benign	Het
Etfdh	A	T	3: 79,605,805	H370Q	probably benign	Het
Fam83g	C	A	11: 61,707,663	A792E	probably benign	Het
Ffar3	G	T	7: 30,855,537	Y119*	probably null	Het
Fosb	G	T	7: 19,307,213	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,263,114	L3F	probably damaging	Het
Foxo4	A	G	X: 101,255,178	K65E	probably damaging	Het
Frem2	A	G	3: 53,516,860	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,608,137	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927	G429C	probably damaging	Het
Gimap1	T	C	6: 48,741,429		probably benign	Het
Gm17657	A	T	17: 29,519,571	F74I	probably benign	Het
Gnas	A	G	2: 174,298,511	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,552,328	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781		probably benign	Het
H2-M10.5	G	A	17: 36,774,728	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,349,323	Q412H	probably benign	Het
Hecw1	G	T	13: 14,236,941	T1058N	probably damaging	Het
Heph	A	T	X: 96,558,084	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,046,075	E53A	possibly damaging	Het
Insrr	T	G	3: 87,814,437		probably benign	Het
Ipo11	A	T	13: 106,892,461	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,118,873	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,225,789	V1307A	probably benign	Het
Kmt2a	T	A	9: 44,847,571	S1027C	probably damaging	Het
Kprp	G	C	3: 92,824,357	P462R	unknown	Het
Lman1l	T	C	9: 57,614,101	T193A	probably benign	Het
Lrit3	A	T	3: 129,791,296	V271D	probably damaging	Het
Map4	T	A	9: 109,979,103		probably benign	Het
Mark4	A	C	7: 19,448,673		probably benign	Het
Mfsd14b	A	G	13: 65,078,445	V142A	probably benign	Het
Mrpl43	A	T	19: 45,005,952		probably benign	Het
Mrpl47	A	G	3: 32,736,693	F16S	probably benign	Het
Myh2	G	T	11: 67,178,967	G380C	probably damaging	Het
Myo15	T	C	11: 60,521,638	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,733,223		probably benign	Het
Neu3	A	G	7: 99,814,183	V111A	probably damaging	Het
Nol4l	T	C	2: 153,417,684		probably null	Het
Nphp3	C	A	9: 104,023,434	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,233,118		probably null	Het
Olfr292	A	G	7: 86,695,308	N284S	probably damaging	Het
Olfr48	T	C	2: 89,844,443	T177A	probably benign	Het
Olfr598	T	C	7: 103,328,963	V159A	probably benign	Het
Olfr791	T	C	10: 129,526,896	I223T	possibly damaging	Het
Pex1	A	G	5: 3,606,130	E319G	possibly damaging	Het
Phtf1	C	A	3: 104,004,469	T709K	probably damaging	Het
Plek2	A	T	12: 78,892,172	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,107,469	C421*	probably null	Het
Polk	A	C	13: 96,484,179	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,729,174	S471P	probably damaging	Het
Prickle2	A	T	6: 92,458,565	F74L	probably benign	Het
Prl7d1	A	T	13: 27,712,055	V113D	probably benign	Het
Prr14	C	T	7: 127,472,095		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ret	A	G	6: 118,178,610	V375A	probably damaging	Het
Rora	T	C	9: 69,361,746	F41S	probably damaging	Het
Sall1	T	C	8: 89,031,758	T573A	probably benign	Het
Shb	A	G	4: 45,458,321	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,592,410		probably null	Het
Sltm	T	C	9: 70,586,081	F769L	probably damaging	Het
Snx9	T	A	17: 5,918,413	M328K	probably damaging	Het
Stk25	G	T	1: 93,624,591	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,316,744	A195T	probably damaging	Het
Tmem8	T	C	17: 26,117,114	L130S	probably benign	Het
Trcg1	C	T	9: 57,242,333	T396M	probably damaging	Het
Trim30b	A	G	7: 104,357,298	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,302,090		probably benign	Het
Ttll4	A	G	1: 74,688,280	H827R	probably damaging	Het
Urgcp	T	C	11: 5,717,477	E287G	probably damaging	Het
Usp2	G	T	9: 44,092,784	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,505,087	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 42,266,018	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,928,528	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,293,449	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,772,937		probably benign	Het
Zcchc6	A	G	13: 59,800,317	V328A	probably benign	Het
Zfp292	T	C	4: 34,807,194	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,516,520		probably benign	Het

Other mutations in Mis18bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Mis18bp1	APN	12	65158441	missense	possibly damaging	0.68
IGL01383:Mis18bp1	APN	12	65148989	missense	probably benign	0.05
IGL01736:Mis18bp1	APN	12	65138678	missense	probably damaging	1.00
IGL02037:Mis18bp1	APN	12	65136748	critical splice donor site	probably null
IGL02210:Mis18bp1	APN	12	65136831	nonsense	probably null
IGL02318:Mis18bp1	APN	12	65158741	missense	probably benign	0.04
IGL02541:Mis18bp1	APN	12	65161460	missense	probably damaging	0.97
IGL02664:Mis18bp1	APN	12	65153880	nonsense	probably null
IGL02838:Mis18bp1	APN	12	65136826	missense	probably damaging	0.99
IGL03031:Mis18bp1	APN	12	65161930	missense	probably benign
PIT4453001:Mis18bp1	UTSW	12	65158673	missense	probably damaging	0.98
R1169:Mis18bp1	UTSW	12	65143283	nonsense	probably null
R1517:Mis18bp1	UTSW	12	65133813	missense	probably benign	0.03
R1702:Mis18bp1	UTSW	12	65161744	missense	probably benign
R1705:Mis18bp1	UTSW	12	65149339	missense	probably benign	0.19
R1888:Mis18bp1	UTSW	12	65149328	missense	probably benign	0.01
R1888:Mis18bp1	UTSW	12	65149328	missense	probably benign	0.01
R1973:Mis18bp1	UTSW	12	65149076	nonsense	probably null
R1990:Mis18bp1	UTSW	12	65158694	missense	probably benign	0.03
R2023:Mis18bp1	UTSW	12	65149109	missense	probably damaging	0.97
R2043:Mis18bp1	UTSW	12	65149418	missense	probably damaging	1.00
R2318:Mis18bp1	UTSW	12	65140843	missense	possibly damaging	0.92
R2897:Mis18bp1	UTSW	12	65133586	missense	probably benign	0.09
R3120:Mis18bp1	UTSW	12	65156988	splice site	probably null
R3845:Mis18bp1	UTSW	12	65149142	missense	possibly damaging	0.61
R4578:Mis18bp1	UTSW	12	65153881	missense	probably damaging	1.00
R4590:Mis18bp1	UTSW	12	65158506	missense	possibly damaging	0.50
R4614:Mis18bp1	UTSW	12	65153529	intron	probably benign
R4626:Mis18bp1	UTSW	12	65140766	missense	probably damaging	1.00
R4724:Mis18bp1	UTSW	12	65158739	missense	probably benign	0.18
R4873:Mis18bp1	UTSW	12	65161435	missense	probably benign	0.23
R4875:Mis18bp1	UTSW	12	65161435	missense	probably benign	0.23
R5173:Mis18bp1	UTSW	12	65149375	missense	possibly damaging	0.96
R5294:Mis18bp1	UTSW	12	65157043	missense	probably damaging	1.00
R5540:Mis18bp1	UTSW	12	65148746	missense	possibly damaging	0.83
R5560:Mis18bp1	UTSW	12	65152816	missense	possibly damaging	0.83
R5584:Mis18bp1	UTSW	12	65154776	missense	probably damaging	0.98
R5661:Mis18bp1	UTSW	12	65148852	missense	probably benign	0.41
R6235:Mis18bp1	UTSW	12	65158408	missense	probably damaging	0.99
R6282:Mis18bp1	UTSW	12	65149163	missense	probably benign	0.01
R6284:Mis18bp1	UTSW	12	65138787	missense	probably benign	0.32
R6378:Mis18bp1	UTSW	12	65149247	missense	probably benign	0.11
R6418:Mis18bp1	UTSW	12	65158543	missense	possibly damaging	0.64
R7103:Mis18bp1	UTSW	12	65149283	missense	possibly damaging	0.61
R7244:Mis18bp1	UTSW	12	65161630	missense	probably damaging	0.96
R7371:Mis18bp1	UTSW	12	65158594	missense	probably benign	0.18
R7623:Mis18bp1	UTSW	12	65148852	missense	probably benign	0.05
R7845:Mis18bp1	UTSW	12	65149328	missense	probably benign	0.01
R7898:Mis18bp1	UTSW	12	65149472	missense	probably benign	0.41
R7912:Mis18bp1	UTSW	12	65152758	missense	possibly damaging	0.92
R8057:Mis18bp1	UTSW	12	65148899	missense	possibly damaging	0.56
R8403:Mis18bp1	UTSW	12	65154811	missense	possibly damaging	0.87
R8834:Mis18bp1	UTSW	12	65161645	missense	probably benign	0.00
R8905:Mis18bp1	UTSW	12	65133627	critical splice acceptor site	probably null
R8996:Mis18bp1	UTSW	12	65133858	missense	probably benign	0.24
R9007:Mis18bp1	UTSW	12	65133842	missense	probably benign	0.28
R9257:Mis18bp1	UTSW	12	65133857	missense	probably benign	0.14
R9299:Mis18bp1	UTSW	12	65138764	missense	possibly damaging	0.94
R9534:Mis18bp1	UTSW	12	65158460	missense	possibly damaging	0.68
R9593:Mis18bp1	UTSW	12	65140854	missense	probably damaging	1.00
R9716:Mis18bp1	UTSW	12	65158563	start gained	probably benign
X0058:Mis18bp1	UTSW	12	65149226	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCTGGGATTTGATACCATGTCTGC -3'
(R):5'- TTGACAGCATCCCTTCAGGCAC -3'

Sequencing Primer
(F):5'- CGGTCCCACAATAAAAATTACTTTC -3'
(R):5'- TCCACCATGTTATCAGAGGC -3'

Posted On

2013-06-11