Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02565:Mon1b'

298798

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mon1b

Ensembl Gene

ENSMUSG00000078908

Gene Name

MON1 homolog B, secretory traffciking associated

Synonyms

5033413H12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL02565

Quality Score

Status

Chromosome

Chromosomal Location

114362219-114371811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114365455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 261 (R261L)

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

possibly damaging
Transcript: ENSMUST00000035777
AA Change: R261L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045089
Gene: ENSMUSG00000078908
AA Change: R261L

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

possibly damaging
Transcript: ENSMUST00000179926
AA Change: R261L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137605
Gene: ENSMUSG00000078908
AA Change: R261L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,302,677 (GRCm39)	S205R	probably benign	Het
Adora3	A	G	3: 105,815,128 (GRCm39)	T293A	probably benign	Het
App	T	C	16: 84,822,308 (GRCm39)		probably null	Het
Asap1	A	G	15: 64,001,014 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,777,770 (GRCm39)	V739E	probably damaging	Het
Bsn	A	G	9: 107,990,487 (GRCm39)	V1755A	probably damaging	Het
Clmp	A	C	9: 40,683,711 (GRCm39)	D147A	probably damaging	Het
Cntn5	A	T	9: 10,145,343 (GRCm39)	C122*	probably null	Het
Ctsb	T	G	14: 63,375,859 (GRCm39)	C198G	probably null	Het
Cyld	A	T	8: 89,467,919 (GRCm39)	R702S	probably damaging	Het
Cyp4v3	A	G	8: 45,773,674 (GRCm39)	V165A	possibly damaging	Het
Dpy19l4	C	A	4: 11,309,440 (GRCm39)	V59F	probably benign	Het
Eml1	A	T	12: 108,472,779 (GRCm39)	T196S	probably damaging	Het
Fam111a	T	A	19: 12,564,318 (GRCm39)	D22E	probably damaging	Het
Gigyf2	A	G	1: 87,369,858 (GRCm39)	H1150R	probably damaging	Het
Grk5	T	G	19: 61,057,809 (GRCm39)	F170V	probably damaging	Het
Heatr5a	A	C	12: 51,997,882 (GRCm39)	V339G	possibly damaging	Het
Hgd	T	A	16: 37,435,749 (GRCm39)	D153E	possibly damaging	Het
Ift70b	A	G	2: 75,768,247 (GRCm39)	Y169H	probably benign	Het
Igdcc3	T	A	9: 65,087,470 (GRCm39)	L336Q	probably damaging	Het
Jph2	T	C	2: 163,239,265 (GRCm39)	E61G	probably damaging	Het
Ktn1	A	T	14: 47,910,391 (GRCm39)		probably benign	Het
Lrch3	T	A	16: 32,826,084 (GRCm39)	D634E	probably benign	Het
Marchf6	T	C	15: 31,490,712 (GRCm39)		probably benign	Het
Misp	T	A	10: 79,662,177 (GRCm39)	I198N	probably benign	Het
Mmp14	C	T	14: 54,678,014 (GRCm39)	P545L	probably benign	Het
Muc5b	T	C	7: 141,411,604 (GRCm39)	S1517P	unknown	Het
Nae1	A	T	8: 105,237,841 (GRCm39)	N518K	probably damaging	Het
Pglyrp4	A	T	3: 90,642,794 (GRCm39)	D225V	probably benign	Het
Pgpep1	A	G	8: 71,105,119 (GRCm39)	I47T	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pitpnc1	G	A	11: 107,187,059 (GRCm39)	T88I	probably damaging	Het
Poldip2	T	C	11: 78,408,678 (GRCm39)	I181T	probably damaging	Het
Ppfia2	T	C	10: 106,699,247 (GRCm39)		probably null	Het
Rasal1	A	G	5: 120,814,845 (GRCm39)		probably benign	Het
Rbms1	A	G	2: 60,590,123 (GRCm39)	Y305H	probably benign	Het
Rnf123	A	C	9: 107,929,411 (GRCm39)		probably null	Het
Sec14l3	G	A	11: 4,026,237 (GRCm39)		probably benign	Het
Slc2a10	A	C	2: 165,357,000 (GRCm39)	D220A	probably damaging	Het
Slc38a8	T	C	8: 120,212,300 (GRCm39)	T348A	probably damaging	Het
Slc4a5	T	C	6: 83,276,487 (GRCm39)	V1104A	probably benign	Het
Snrpe	T	C	1: 133,536,704 (GRCm39)		probably benign	Het
Th	C	A	7: 142,453,647 (GRCm39)	V18F	probably damaging	Het
Ubqln5	G	A	7: 103,778,279 (GRCm39)	Q182*	probably null	Het
Unc5c	T	C	3: 141,509,680 (GRCm39)	V646A	probably damaging	Het
Wasf1	A	G	10: 40,812,128 (GRCm39)	N306D	possibly damaging	Het

Other mutations in Mon1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02487:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02525:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02526:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02577:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02578:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02579:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02580:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02667:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02703:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
PIT4651001:Mon1b	UTSW	8	114,365,254 (GRCm39)	missense	probably benign	0.33
R0326:Mon1b	UTSW	8	114,364,375 (GRCm39)	missense	probably benign	0.24
R0388:Mon1b	UTSW	8	114,365,710 (GRCm39)	missense	probably damaging	0.98
R1667:Mon1b	UTSW	8	114,368,589 (GRCm39)	missense	probably damaging	0.99
R2426:Mon1b	UTSW	8	114,365,752 (GRCm39)	missense	probably damaging	0.99
R3711:Mon1b	UTSW	8	114,365,779 (GRCm39)	missense	possibly damaging	0.76
R4896:Mon1b	UTSW	8	114,365,859 (GRCm39)	missense	probably damaging	0.97
R4912:Mon1b	UTSW	8	114,368,585 (GRCm39)	nonsense	probably null
R5004:Mon1b	UTSW	8	114,365,859 (GRCm39)	missense	probably damaging	0.97
R5243:Mon1b	UTSW	8	114,364,553 (GRCm39)	missense	possibly damaging	0.86
R5331:Mon1b	UTSW	8	114,362,899 (GRCm39)	missense	probably null	0.25
R6375:Mon1b	UTSW	8	114,364,709 (GRCm39)	missense	probably damaging	0.97
R6461:Mon1b	UTSW	8	114,365,170 (GRCm39)	missense	probably damaging	1.00
R6873:Mon1b	UTSW	8	114,368,697 (GRCm39)	missense	probably damaging	1.00
R8250:Mon1b	UTSW	8	114,366,351 (GRCm39)	missense	probably damaging	0.98
R8765:Mon1b	UTSW	8	114,362,881 (GRCm39)	missense	possibly damaging	0.72
R9174:Mon1b	UTSW	8	114,365,689 (GRCm39)	missense	probably damaging	0.97
Z1176:Mon1b	UTSW	8	114,364,441 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16