Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03092:Mon2'

418408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mon2

Ensembl Gene

ENSMUSG00000034602

Gene Name

MON2 homolog, regulator of endosome to Golgi trafficking

Synonyms

2610528O22Rik, SF21

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.916) question?

Stock #

IGL03092

Quality Score

Status

Chromosome

Chromosomal Location

122992060-123076505 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123018100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 962 (I962N)

Ref Sequence

ENSEMBL: ENSMUSP00000131052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037557] [ENSMUST00000073792] [ENSMUST00000170935]

AlphaFold

Q80TL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037557
AA Change: I961N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: I961N

Domain	Start	End	E-Value	Type
low complexity region	119	138	N/A	INTRINSIC
low complexity region	164	176	N/A	INTRINSIC
Pfam:Sec7_N	208	294	6.5e-16	PFAM
Pfam:Sec7_N	299	385	2.6e-16	PFAM
low complexity region	405	438	N/A	INTRINSIC
low complexity region	558	575	N/A	INTRINSIC
low complexity region	615	627	N/A	INTRINSIC
Pfam:DUF1981	844	929	2.4e-21	PFAM
low complexity region	984	1001	N/A	INTRINSIC
low complexity region	1182	1193	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000073792
AA Change: I962N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: I962N

Domain	Start	End	E-Value	Type
Pfam:DCB	8	184	3e-72	PFAM
Pfam:Sec7_N	211	384	3.1e-58	PFAM
low complexity region	405	438	N/A	INTRINSIC
low complexity region	558	575	N/A	INTRINSIC
low complexity region	615	627	N/A	INTRINSIC
Pfam:DUF1981	848	929	6.6e-20	PFAM
Pfam:Mon2_C	932	1706	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170935
AA Change: I962N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: I962N

Domain	Start	End	E-Value	Type
low complexity region	119	138	N/A	INTRINSIC
low complexity region	164	176	N/A	INTRINSIC
Pfam:Sec7_N	208	294	6.5e-16	PFAM
Pfam:Sec7_N	299	385	2.6e-16	PFAM
low complexity region	405	438	N/A	INTRINSIC
low complexity region	559	576	N/A	INTRINSIC
low complexity region	616	628	N/A	INTRINSIC
Pfam:DUF1981	845	930	8.1e-22	PFAM
low complexity region	985	1002	N/A	INTRINSIC
low complexity region	1183	1194	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222536

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,406,470	L491P	probably damaging	Het
5430419D17Rik	G	T	7: 131,201,798		probably null	Het
Abcc6	T	A	7: 45,986,470	D1051V	probably damaging	Het
Aqr	T	A	2: 114,158,943	E133V	probably benign	Het
Bag6	A	G	17: 35,145,627	N911D	probably damaging	Het
BC024978	T	C	7: 27,201,136	M180T	probably damaging	Het
Ces4a	C	T	8: 105,148,204		probably benign	Het
Clec3b	A	T	9: 123,151,035		probably benign	Het
Cnot1	T	C	8: 95,769,615		probably benign	Het
Ctsg	T	A	14: 56,099,960	*262L	probably null	Het
Cyp17a1	T	A	19: 46,672,611	H78L	possibly damaging	Het
Dcaf13	C	A	15: 39,127,976		probably benign	Het
Dcun1d1	G	T	3: 35,920,992	Q52K	possibly damaging	Het
Ddb1	C	T	19: 10,612,945	R279W	probably damaging	Het
Dock1	A	G	7: 134,765,216		probably benign	Het
Dsel	A	G	1: 111,860,063	L914P	probably damaging	Het
Fbxo31	A	G	8: 121,560,018	F174L	probably benign	Het
Gm9116	A	G	3: 93,910,206		noncoding transcript	Het
Gspt1	C	T	16: 11,238,899	V211I	probably benign	Het
Hmgb1	A	T	5: 149,050,698	S14T	probably benign	Het
Igsf8	A	G	1: 172,312,529		probably benign	Het
Klf13	A	G	7: 63,891,669	F237L	probably damaging	Het
Nfx1	A	G	4: 41,024,851	D1108G	probably damaging	Het
Nr2e1	T	C	10: 42,571,482	Y178C	probably damaging	Het
Olfr1426	C	A	19: 12,087,866	E309*	probably null	Het
Olfr646	A	T	7: 104,106,647	I123F	probably damaging	Het
Pde3b	A	T	7: 114,523,348	H717L	probably damaging	Het
Polr1b	T	C	2: 129,123,129	Y712H	probably damaging	Het
Pramef25	C	A	4: 143,950,197	K112N	probably damaging	Het
Rnf157	T	A	11: 116,347,969		probably null	Het
Ros1	T	C	10: 52,098,806	E1561G	probably damaging	Het
Serpina6	A	G	12: 103,653,895		probably null	Het
St18	A	G	1: 6,768,894		probably benign	Het
Ugp2	A	G	11: 21,329,722		probably benign	Het
Vmn1r70	T	C	7: 10,634,259	S225P	probably benign	Het
Zfp641	T	C	15: 98,290,516	D161G	probably damaging	Het

Other mutations in Mon2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Mon2	APN	10	123026299	missense	probably damaging	1.00
IGL01072:Mon2	APN	10	123010539	nonsense	probably null
IGL02080:Mon2	APN	10	123052190	missense	probably damaging	0.98
IGL02157:Mon2	APN	10	123013472	missense	probably damaging	1.00
IGL02419:Mon2	APN	10	123016447	missense	probably benign	0.05
IGL02498:Mon2	APN	10	123034330	missense	probably benign	0.00
IGL02638:Mon2	APN	10	123023939	missense	probably damaging	1.00
IGL02664:Mon2	APN	10	123009496	splice site	probably benign
IGL02690:Mon2	APN	10	123009627	missense	possibly damaging	0.67
IGL02878:Mon2	APN	10	123006991	missense	probably benign	0.09
IGL03103:Mon2	APN	10	123030103	splice site	probably benign
IGL03208:Mon2	APN	10	123018069	splice site	probably benign
R0010:Mon2	UTSW	10	123032694	missense	probably damaging	1.00
R0016:Mon2	UTSW	10	123035546	missense	probably damaging	0.96
R0016:Mon2	UTSW	10	123035546	missense	probably damaging	0.96
R0027:Mon2	UTSW	10	123036048	missense	possibly damaging	0.66
R0027:Mon2	UTSW	10	123036048	missense	possibly damaging	0.66
R0145:Mon2	UTSW	10	123013512	missense	possibly damaging	0.94
R0390:Mon2	UTSW	10	123007021	missense	probably null	0.05
R0481:Mon2	UTSW	10	123013396	missense	possibly damaging	0.94
R0513:Mon2	UTSW	10	123038610	missense	probably damaging	1.00
R0599:Mon2	UTSW	10	123026065	splice site	probably benign
R1226:Mon2	UTSW	10	123002819	missense	probably benign	0.17
R1548:Mon2	UTSW	10	123036007	splice site	probably benign
R1598:Mon2	UTSW	10	123016396	missense	probably damaging	1.00
R1650:Mon2	UTSW	10	122995777	missense	probably benign	0.45
R1687:Mon2	UTSW	10	123026124	missense	probably damaging	0.98
R1721:Mon2	UTSW	10	123031097	missense	probably damaging	0.98
R1768:Mon2	UTSW	10	123013763	missense	probably benign	0.00
R1827:Mon2	UTSW	10	123046311	missense	probably damaging	0.97
R1879:Mon2	UTSW	10	123002885	missense	probably damaging	1.00
R1954:Mon2	UTSW	10	123038483	missense	probably damaging	1.00
R1955:Mon2	UTSW	10	123038483	missense	probably damaging	1.00
R1968:Mon2	UTSW	10	123009565	missense	probably damaging	1.00
R2060:Mon2	UTSW	10	122995776	missense	probably damaging	1.00
R2160:Mon2	UTSW	10	123075929	nonsense	probably null
R2165:Mon2	UTSW	10	123042364	splice site	probably null
R3737:Mon2	UTSW	10	123013375	missense	probably damaging	1.00
R3814:Mon2	UTSW	10	123013565	missense	probably damaging	0.98
R4058:Mon2	UTSW	10	123002819	missense	probably benign	0.17
R4091:Mon2	UTSW	10	123038510	missense	probably damaging	1.00
R4214:Mon2	UTSW	10	123016492	missense	probably benign	0.03
R4354:Mon2	UTSW	10	123026983	missense	probably benign	0.02
R4422:Mon2	UTSW	10	123042982	missense	probably damaging	1.00
R4505:Mon2	UTSW	10	123009589	missense	probably damaging	0.99
R4791:Mon2	UTSW	10	123006057	missense	probably benign	0.01
R4797:Mon2	UTSW	10	123016517	missense	probably benign	0.45
R4944:Mon2	UTSW	10	123038459	critical splice donor site	probably null
R4982:Mon2	UTSW	10	122995789	missense	probably damaging	1.00
R5298:Mon2	UTSW	10	123010606	missense	probably benign
R5503:Mon2	UTSW	10	123032645	missense	possibly damaging	0.54
R5653:Mon2	UTSW	10	123026094	missense	probably damaging	0.96
R5687:Mon2	UTSW	10	123008239	missense	probably damaging	0.99
R5838:Mon2	UTSW	10	123010492	critical splice donor site	probably null
R6108:Mon2	UTSW	10	123032695	missense	probably benign	0.00
R6182:Mon2	UTSW	10	123038659	splice site	probably null
R6355:Mon2	UTSW	10	123022920	missense	possibly damaging	0.58
R6358:Mon2	UTSW	10	123013504	missense	probably damaging	0.98
R6548:Mon2	UTSW	10	123036093	missense	probably damaging	1.00
R6557:Mon2	UTSW	10	123016402	missense	probably damaging	1.00
R6649:Mon2	UTSW	10	123038480	missense	possibly damaging	0.46
R7140:Mon2	UTSW	10	123035453	missense	probably benign	0.00
R7303:Mon2	UTSW	10	123038459	critical splice donor site	probably null
R7317:Mon2	UTSW	10	123013946	missense	probably damaging	0.97
R7355:Mon2	UTSW	10	123009516	missense	probably benign
R7508:Mon2	UTSW	10	123023939	missense	probably damaging	1.00
R7509:Mon2	UTSW	10	123032552	missense	probably benign
R7647:Mon2	UTSW	10	123006026	missense	probably benign
R7720:Mon2	UTSW	10	123032588	missense	probably benign	0.00
R7799:Mon2	UTSW	10	123042331	missense	probably benign	0.41
R7801:Mon2	UTSW	10	123059186	critical splice donor site	probably null
R7823:Mon2	UTSW	10	123032654	missense	probably damaging	1.00
R7985:Mon2	UTSW	10	123016308	missense	probably damaging	1.00
R8310:Mon2	UTSW	10	123002783	missense	probably damaging	1.00
R8810:Mon2	UTSW	10	123009611	missense	possibly damaging	0.94
R8825:Mon2	UTSW	10	123013871	missense	probably benign	0.00
R8937:Mon2	UTSW	10	123059205	missense	probably benign
R8978:Mon2	UTSW	10	123035564	nonsense	probably null
R9011:Mon2	UTSW	10	123026308	missense	possibly damaging	0.95
R9213:Mon2	UTSW	10	123036111	nonsense	probably null
R9358:Mon2	UTSW	10	123032547	missense	probably benign	0.00
R9630:Mon2	UTSW	10	123038510	missense	probably damaging	1.00
X0022:Mon2	UTSW	10	123006102	missense	probably benign	0.07

Posted On

2016-08-02