Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Mon1b'

31416

Institutional Source

Beutler Lab

Gene Symbol

Mon1b

Ensembl Gene

ENSMUSG00000078908

Gene Name

MON1 homolog B, secretory traffciking associated

Synonyms

MMRRC Submission

038594-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R0388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113635587-113645179 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113639078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 346 (V346E)

Ref Sequence

ENSEMBL: ENSMUSP00000137605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034219] [ENSMUST00000035777] [ENSMUST00000095173] [ENSMUST00000179926] [ENSMUST00000212269]

AlphaFold

Q8BMQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000034219

SMART Domains

Protein: ENSMUSP00000034219
Gene: ENSMUSG00000033409

Domain	Start	End	E-Value	Type
Pfam:SYCE1	45	135	4.4e-39	PFAM
low complexity region	139	154	N/A	INTRINSIC
low complexity region	196	212	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000035777
AA Change: V346E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045089
Gene: ENSMUSG00000078908
AA Change: V346E

Domain	Start	End	E-Value	Type
Pfam:Mon1	105	533	5.5e-172	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095173

SMART Domains

Protein: ENSMUSP00000092796
Gene: ENSMUSG00000033409

Domain	Start	End	E-Value	Type
Pfam:SYCE1	45	172	8.3e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179926
AA Change: V346E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137605
Gene: ENSMUSG00000078908
AA Change: V346E

Domain	Start	End	E-Value	Type
Pfam:Mon1	110	532	3.3e-126	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212017

Predicted Effect

probably benign
Transcript: ENSMUST00000212269

Meta Mutation Damage Score

0.7643

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
Acsbg1	T	C	9: 54,609,063	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242		probably benign	Het
Aox2	T	C	1: 58,354,406	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673		noncoding transcript	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049		probably benign	Het
Dmpk	T	A	7: 19,084,077		probably benign	Het
Dzank1	A	T	2: 144,476,106	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,109,401	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351	R471P	possibly damaging	Het
Esf1	T	A	2: 140,120,871	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,439,630	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Hspg2	T	A	4: 137,511,158	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187		probably null	Het
Inpp4a	A	G	1: 37,396,160	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,317,863	E13V	probably damaging	Het
Kcnq3	T	A	15: 66,000,038	Y594F	probably benign	Het
Kif16b	T	C	2: 142,740,937	E556G	probably damaging	Het
Kif28	T	C	1: 179,740,089	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,554,549	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504		probably benign	Het
Mmp19	G	T	10: 128,798,883	R456L	probably benign	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917		probably benign	Het
Neurl4	T	C	11: 69,911,733		probably benign	Het
Ntng2	G	C	2: 29,207,426	P341R	probably damaging	Het
Oas1d	A	T	5: 120,917,028	Y221F	probably damaging	Het
Olfr1040	A	G	2: 86,146,630	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184		probably null	Het
Osbpl8	A	G	10: 111,272,282	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706		probably benign	Het
Parn	T	C	16: 13,654,476	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192	I311N	probably damaging	Het
Pprc1	T	C	19: 46,062,775	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,254,234	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sass6	C	A	3: 116,607,308		probably benign	Het
Shroom3	G	A	5: 92,951,293	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536	P8S	unknown	Het
Slc9a9	T	A	9: 94,939,563		probably null	Het
Syne2	T	A	12: 75,986,975	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425		probably null	Het
Tlr6	G	T	5: 64,955,205	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111		probably null	Het
Tns3	T	C	11: 8,445,703	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915		probably benign	Het
Zfp933	T	C	4: 147,826,442	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585	S382P	probably damaging	Het

Other mutations in Mon1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02487:Mon1b	APN	8	113638823	missense	possibly damaging	0.90
IGL02525:Mon1b	APN	8	113638823	missense	possibly damaging	0.90
IGL02526:Mon1b	APN	8	113638823	missense	possibly damaging	0.90
IGL02565:Mon1b	APN	8	113638823	missense	possibly damaging	0.90
IGL02577:Mon1b	APN	8	113638823	missense	possibly damaging	0.90
IGL02578:Mon1b	APN	8	113638823	missense	possibly damaging	0.90
IGL02579:Mon1b	APN	8	113638823	missense	possibly damaging	0.90
IGL02580:Mon1b	APN	8	113638823	missense	possibly damaging	0.90
IGL02667:Mon1b	APN	8	113638823	missense	possibly damaging	0.90
IGL02703:Mon1b	APN	8	113638823	missense	possibly damaging	0.90
PIT4651001:Mon1b	UTSW	8	113638622	missense	probably benign	0.33
R0326:Mon1b	UTSW	8	113637743	missense	probably benign	0.24
R1667:Mon1b	UTSW	8	113641957	missense	probably damaging	0.99
R2426:Mon1b	UTSW	8	113639120	missense	probably damaging	0.99
R3711:Mon1b	UTSW	8	113639147	missense	possibly damaging	0.76
R4896:Mon1b	UTSW	8	113639227	missense	probably damaging	0.97
R4912:Mon1b	UTSW	8	113641953	nonsense	probably null
R5004:Mon1b	UTSW	8	113639227	missense	probably damaging	0.97
R5243:Mon1b	UTSW	8	113637921	missense	possibly damaging	0.86
R5331:Mon1b	UTSW	8	113636267	missense	probably null	0.25
R6375:Mon1b	UTSW	8	113638077	missense	probably damaging	0.97
R6461:Mon1b	UTSW	8	113638538	missense	probably damaging	1.00
R6873:Mon1b	UTSW	8	113642065	missense	probably damaging	1.00
R8250:Mon1b	UTSW	8	113639719	missense	probably damaging	0.98
R8765:Mon1b	UTSW	8	113636249	missense	possibly damaging	0.72
R9174:Mon1b	UTSW	8	113639057	missense	probably damaging	0.97
Z1176:Mon1b	UTSW	8	113637809	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCTTGGACAGTGTGGAGCAAGAC -3'
(R):5'- CATTAGAGAAGTTGGCAGCCTCCC -3'

Sequencing Primer
(F):5'- ATGCCCTGGGCACACTAC -3'
(R):5'- TCCCCAAGAGTACGCAGG -3'

Posted On

2013-04-24