Mutagenetix > Incidental Mutations

Incidental Mutation 'R0599:Mon2'

55234

Institutional Source

Beutler Lab

Gene Symbol

Mon2

Ensembl Gene

ENSMUSG00000034602

Gene Name

MON2 homolog, regulator of endosome to Golgi trafficking

Synonyms

2610528O22Rik, SF21

MMRRC Submission

038788-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.856) question?

Stock #

R0599 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122992060-123076505 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 123026065 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131052 (fasta)

Gene Model

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

AlphaFold

Q80TL7

Predicted Effect

probably benign
Transcript: ENSMUST00000037557

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602

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 benign
Transcript: ENSMUST00000037557

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602

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 benign
Transcript: ENSMUST00000037557

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602

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 benign
Transcript: ENSMUST00000037557

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602

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 benign
Transcript: ENSMUST00000073792

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602

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 benign
Transcript: ENSMUST00000073792

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602

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 benign
Transcript: ENSMUST00000073792

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602

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 benign
Transcript: ENSMUST00000073792

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602

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 benign
Transcript: ENSMUST00000170935

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602

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

probably benign
Transcript: ENSMUST00000170935

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602

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

probably benign
Transcript: ENSMUST00000170935

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602

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

probably benign
Transcript: ENSMUST00000170935

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602

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: ENSMUST00000218253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222536

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,552,245	L978P	probably damaging	Het
Abcb1a	C	T	5: 8,698,539	T290M	probably benign	Het
Abcd3	A	T	3: 121,765,093	F585I	probably damaging	Het
Acan	A	G	7: 79,111,290		probably benign	Het
Anxa6	T	C	11: 54,979,466	D667G	possibly damaging	Het
Ap3m2	G	T	8: 22,793,112	A208D	possibly damaging	Het
Arhgap17	A	T	7: 123,303,790		probably benign	Het
Bptf	A	G	11: 107,068,382	V1838A	probably damaging	Het
Brip1	T	A	11: 86,152,737	M334L	probably benign	Het
Btbd10	C	T	7: 113,335,309		probably benign	Het
Btbd11	G	A	10: 85,658,336	G1106D	probably damaging	Het
Cdh7	C	A	1: 110,052,966	T208K	probably damaging	Het
Cnga4	A	G	7: 105,405,818	Y100C	probably damaging	Het
Dnah10	G	A	5: 124,800,953	V2644M	probably damaging	Het
Dnah9	T	C	11: 65,965,689	D2882G	probably damaging	Het
Eapp	T	A	12: 54,685,962	K117M	probably damaging	Het
Eml3	T	C	19: 8,939,063	V673A	probably benign	Het
Ephb4	G	A	5: 137,369,855	C754Y	probably damaging	Het
Eps8l1	A	G	7: 4,477,957	D33G	possibly damaging	Het
Farsa	A	G	8: 84,867,583	K321E	probably damaging	Het
Fry	G	A	5: 150,437,159	R2090Q	probably damaging	Het
Gm10283	A	G	8: 60,501,224		probably benign	Het
Grm4	A	G	17: 27,431,490	I844T	probably benign	Het
Gtf2h3	A	G	5: 124,588,628	D124G	probably benign	Het
Gulo	A	T	14: 65,990,441	D347E	probably damaging	Het
Hmcn1	A	G	1: 150,609,801	F4350S	possibly damaging	Het
Hspg2	A	G	4: 137,512,401	D473G	probably damaging	Het
Il17ra	T	A	6: 120,481,505	I539N	probably damaging	Het
Insrr	A	G	3: 87,813,133	E1026G	probably damaging	Het
Itga2	A	T	13: 114,856,650		probably benign	Het
Kdm1b	A	T	13: 47,058,810	D190V	possibly damaging	Het
Lima1	A	T	15: 99,802,159	N146K	probably damaging	Het
Mettl7a3	A	T	15: 100,335,383	N152Y	possibly damaging	Het
Mnt	G	T	11: 74,842,296	V85L	probably benign	Het
Mtf1	T	C	4: 124,820,201		probably benign	Het
Mylk4	T	C	13: 32,712,754		probably null	Het
Myo18b	A	C	5: 112,865,750	L780R	probably damaging	Het
Myo1e	A	G	9: 70,376,660		probably benign	Het
Obscn	A	G	11: 59,073,696	S705P	probably damaging	Het
Ocrl	A	T	X: 47,936,086		probably benign	Het
Olfr1260	T	C	2: 89,978,201	F141S	probably benign	Het
Olfr394	A	T	11: 73,887,904	M156K	probably benign	Het
Olfr599	A	G	7: 103,338,186	N44S	probably damaging	Het
Olfr639	A	T	7: 104,012,188	C171*	probably null	Het
Otof	T	A	5: 30,370,705	K1931N	probably damaging	Het
Plcxd3	A	G	15: 4,516,867	S118G	probably damaging	Het
Plcz1	T	A	6: 140,028,542	Q58L	probably benign	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Rassf4	T	C	6: 116,645,936	E38G	probably damaging	Het
Ros1	A	T	10: 52,123,300	Y1164N	probably damaging	Het
Rpgrip1l	A	G	8: 91,305,000	I83T	probably damaging	Het
Scn9a	T	G	2: 66,526,799	K1053Q	probably damaging	Het
Sgsm1	G	T	5: 113,245,028	Q1087K	probably damaging	Het
Slc16a10	T	C	10: 40,141,918	D40G	probably benign	Het
Slc27a6	A	G	18: 58,556,813	D117G	probably damaging	Het
Slc2a9	T	A	5: 38,480,144		probably benign	Het
Slc4a1	A	G	11: 102,357,915		probably benign	Het
Smarca1	T	A	X: 47,823,426	Q982L	probably benign	Het
Sp100	T	A	1: 85,681,110	I320N	possibly damaging	Het
Stx8	A	T	11: 68,109,362	R209S	probably null	Het
Sulf2	T	C	2: 166,083,879	T453A	possibly damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tenm2	T	A	11: 36,024,780	I1976F	possibly damaging	Het
Tenm3	G	A	8: 48,277,710	S1341L	probably damaging	Het
Tmem130	C	T	5: 144,737,809	V369M	probably damaging	Het
Tmem200c	A	G	17: 68,840,511	K30E	probably damaging	Het
Tmem225	A	G	9: 40,149,747	I117V	possibly damaging	Het
Top2a	A	G	11: 99,001,417	I1073T	probably damaging	Het
Trps1	A	C	15: 50,831,860	Y296*	probably null	Het
Tubg1	T	C	11: 101,125,336	M377T	probably benign	Het
Vmn1r35	G	A	6: 66,679,513	H58Y	probably benign	Het
Vmn1r56	G	A	7: 5,196,430	H63Y	probably benign	Het
Vmn1r75	T	C	7: 11,881,262		probably null	Het
Vnn3	T	C	10: 23,865,705	S303P	possibly damaging	Het
Wdr49	C	T	3: 75,431,076		probably null	Het
Wdr49	T	C	3: 75,449,890		probably null	Het
Zcchc6	A	G	13: 59,809,487	V7A	probably damaging	Het
Zzef1	T	C	11: 72,913,178	L2582P	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
IGL03092:Mon2	APN	10	123018100	missense	probably damaging	1.00
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
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
X0022:Mon2	UTSW	10	123006102	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGACAGCTCCGTATAAAAGCCGTG -3'
(R):5'- GACTTGCCAGTGATCTCCAACATCC -3'

Sequencing Primer
(F):5'- GCATGTAAGAAAGAAGGGACATAAC -3'
(R):5'- GTTTGAAAGCTCACAGTAAGTCCC -3'

Posted On

2013-07-11