Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Mis18bp1'

555346

Institutional Source

Beutler Lab

Gene Symbol

Mis18bp1

Ensembl Gene

ENSMUSG00000047534

Gene Name

MIS18 binding protein 1

Synonyms

C79407

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65132734-65172604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65158673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 242 (T242A)

Ref Sequence

ENSEMBL: ENSMUSP00000052109 (fasta)

Gene Model

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

AlphaFold

Q80WQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000052201
AA Change: T242A

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

SMART Domains

Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: T242A

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

probably benign
Transcript: ENSMUST00000221296

Predicted Effect

probably damaging
Transcript: ENSMUST00000222244
AA Change: T242A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	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
R0555:Mis18bp1	UTSW	12	65161453	missense	possibly damaging	0.94
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'- GCCAGATAGTGTTAAATTAGGTCTTGG -3'
(R):5'- TGGCAGATCCTCCAATTCTG -3'

Sequencing Primer
(F):5'- AAATTAGGTCTTGGACTTGAACG -3'
(R):5'- GCAGATCCTCCAATTCTGAACCAAG -3'

Posted On

2019-06-07