Mutagenetix > Incidental Mutation

Incidental Mutation 'R4058:Mon2'

314351

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

040969-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R4058 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122827965-122912410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122838724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1593 (V1593A)

Ref Sequence

ENSEMBL: ENSMUSP00000073462 (fasta)

Gene Model

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

AlphaFold

Q80TL7

Predicted Effect

probably benign
Transcript: ENSMUST00000037557
AA Change: V1586A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: V1586A

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
AA Change: V1593A

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: V1593A

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
AA Change: V1587A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: V1587A

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: ENSMUST00000219290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222536

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

88% (38/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,586,821 (GRCm39)	V301A	probably benign	Het
Adam15	A	G	3: 89,254,362 (GRCm39)	V145A	possibly damaging	Het
Anxa4	C	T	6: 86,734,800 (GRCm39)		probably null	Het
Aqp9	C	A	9: 71,037,726 (GRCm39)	V184L	probably benign	Het
Atp13a3	C	A	16: 30,173,064 (GRCm39)	C271F	possibly damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cldn34c4	C	A	X: 126,629,060 (GRCm39)	V137F	probably benign	Het
Cngb1	T	C	8: 95,994,282 (GRCm39)	E163G	probably benign	Het
Dync1i1	A	G	6: 5,769,764 (GRCm39)	D113G	probably damaging	Het
Etl4	T	A	2: 20,810,830 (GRCm39)	V971D	possibly damaging	Het
Gys1	A	G	7: 45,097,810 (GRCm39)		probably benign	Het
H13	C	G	2: 152,533,794 (GRCm39)	P227R	probably damaging	Het
Ift22	C	A	5: 136,940,717 (GRCm39)	P84Q	unknown	Het
Igfn1	A	G	1: 135,897,494 (GRCm39)	V1024A	probably benign	Het
Kdm8	T	A	7: 125,055,666 (GRCm39)	Y65N	probably damaging	Het
Lbp	T	A	2: 158,166,550 (GRCm39)	V368E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Megf6	T	C	4: 154,326,989 (GRCm39)		probably benign	Het
Mettl13	G	T	1: 162,373,755 (GRCm39)	H165Q	probably damaging	Het
Mitd1	C	T	1: 37,920,107 (GRCm39)	S167N	probably benign	Het
Nkx3-2	T	A	5: 41,919,406 (GRCm39)	E194V	possibly damaging	Het
Nup210	A	T	6: 91,037,602 (GRCm39)	V757D	probably benign	Het
Opcml	A	G	9: 28,812,884 (GRCm39)	Y192C	probably damaging	Het
Or10ak7	T	C	4: 118,791,880 (GRCm39)	D53G	probably damaging	Het
Or5m8	T	A	2: 85,822,576 (GRCm39)	S138R	possibly damaging	Het
Pcdha2	A	G	18: 37,072,935 (GRCm39)	S189G	probably benign	Het
Pkd2l2	T	C	18: 34,561,245 (GRCm39)	F418L	probably benign	Het
Plekhg1	A	G	10: 3,907,087 (GRCm39)	D668G	probably damaging	Het
Prep	G	A	10: 45,034,467 (GRCm39)	V660M	probably benign	Het
Qrfprl	T	A	6: 65,358,525 (GRCm39)	I83N	probably damaging	Het
Rgs8	A	G	1: 153,566,742 (GRCm39)	T98A	probably null	Het
Rhbdd1	A	G	1: 82,348,102 (GRCm39)	N235D	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sgo2b	A	T	8: 64,379,981 (GRCm39)	D950E	probably damaging	Het
Slc1a5	T	C	7: 16,529,778 (GRCm39)	V399A	probably damaging	Het
Spag16	A	T	1: 69,892,487 (GRCm39)	Q89H	probably damaging	Het
Spta1	T	C	1: 174,068,703 (GRCm39)	W2168R	probably damaging	Het
Taok1	T	A	11: 77,440,264 (GRCm39)	K581M	probably benign	Het
Tns3	T	C	11: 8,442,275 (GRCm39)	D696G	probably damaging	Het
Tspan8	C	T	10: 115,671,187 (GRCm39)	R115*	probably null	Het
Txnrd1	A	G	10: 82,721,114 (GRCm39)	E510G	probably benign	Het
Usp45	T	C	4: 21,810,746 (GRCm39)	I314T	probably damaging	Het
Vmn2r15	T	A	5: 109,441,312 (GRCm39)	H182L	probably damaging	Het
Vmn2r76	A	C	7: 85,879,508 (GRCm39)	M264R	probably benign	Het

Other mutations in Mon2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Mon2	APN	10	122,862,204 (GRCm39)	missense	probably damaging	1.00
IGL01072:Mon2	APN	10	122,846,444 (GRCm39)	nonsense	probably null
IGL02080:Mon2	APN	10	122,888,095 (GRCm39)	missense	probably damaging	0.98
IGL02157:Mon2	APN	10	122,849,377 (GRCm39)	missense	probably damaging	1.00
IGL02419:Mon2	APN	10	122,852,352 (GRCm39)	missense	probably benign	0.05
IGL02498:Mon2	APN	10	122,870,235 (GRCm39)	missense	probably benign	0.00
IGL02638:Mon2	APN	10	122,859,844 (GRCm39)	missense	probably damaging	1.00
IGL02664:Mon2	APN	10	122,845,401 (GRCm39)	splice site	probably benign
IGL02690:Mon2	APN	10	122,845,532 (GRCm39)	missense	possibly damaging	0.67
IGL02878:Mon2	APN	10	122,842,896 (GRCm39)	missense	probably benign	0.09
IGL03092:Mon2	APN	10	122,854,005 (GRCm39)	missense	probably damaging	1.00
IGL03103:Mon2	APN	10	122,866,008 (GRCm39)	splice site	probably benign
IGL03208:Mon2	APN	10	122,853,974 (GRCm39)	splice site	probably benign
R0010:Mon2	UTSW	10	122,868,599 (GRCm39)	missense	probably damaging	1.00
R0016:Mon2	UTSW	10	122,871,451 (GRCm39)	missense	probably damaging	0.96
R0016:Mon2	UTSW	10	122,871,451 (GRCm39)	missense	probably damaging	0.96
R0027:Mon2	UTSW	10	122,871,953 (GRCm39)	missense	possibly damaging	0.66
R0027:Mon2	UTSW	10	122,871,953 (GRCm39)	missense	possibly damaging	0.66
R0145:Mon2	UTSW	10	122,849,417 (GRCm39)	missense	possibly damaging	0.94
R0390:Mon2	UTSW	10	122,842,926 (GRCm39)	missense	probably null	0.05
R0481:Mon2	UTSW	10	122,849,301 (GRCm39)	missense	possibly damaging	0.94
R0513:Mon2	UTSW	10	122,874,515 (GRCm39)	missense	probably damaging	1.00
R0599:Mon2	UTSW	10	122,861,970 (GRCm39)	splice site	probably benign
R1226:Mon2	UTSW	10	122,838,724 (GRCm39)	missense	probably benign	0.17
R1548:Mon2	UTSW	10	122,871,912 (GRCm39)	splice site	probably benign
R1598:Mon2	UTSW	10	122,852,301 (GRCm39)	missense	probably damaging	1.00
R1650:Mon2	UTSW	10	122,831,682 (GRCm39)	missense	probably benign	0.45
R1687:Mon2	UTSW	10	122,862,029 (GRCm39)	missense	probably damaging	0.98
R1721:Mon2	UTSW	10	122,867,002 (GRCm39)	missense	probably damaging	0.98
R1768:Mon2	UTSW	10	122,849,668 (GRCm39)	missense	probably benign	0.00
R1827:Mon2	UTSW	10	122,882,216 (GRCm39)	missense	probably damaging	0.97
R1879:Mon2	UTSW	10	122,838,790 (GRCm39)	missense	probably damaging	1.00
R1954:Mon2	UTSW	10	122,874,388 (GRCm39)	missense	probably damaging	1.00
R1955:Mon2	UTSW	10	122,874,388 (GRCm39)	missense	probably damaging	1.00
R1968:Mon2	UTSW	10	122,845,470 (GRCm39)	missense	probably damaging	1.00
R2060:Mon2	UTSW	10	122,831,681 (GRCm39)	missense	probably damaging	1.00
R2160:Mon2	UTSW	10	122,911,834 (GRCm39)	nonsense	probably null
R2165:Mon2	UTSW	10	122,878,269 (GRCm39)	splice site	probably null
R3737:Mon2	UTSW	10	122,849,280 (GRCm39)	missense	probably damaging	1.00
R3814:Mon2	UTSW	10	122,849,470 (GRCm39)	missense	probably damaging	0.98
R4091:Mon2	UTSW	10	122,874,415 (GRCm39)	missense	probably damaging	1.00
R4214:Mon2	UTSW	10	122,852,397 (GRCm39)	missense	probably benign	0.03
R4354:Mon2	UTSW	10	122,862,888 (GRCm39)	missense	probably benign	0.02
R4422:Mon2	UTSW	10	122,878,887 (GRCm39)	missense	probably damaging	1.00
R4505:Mon2	UTSW	10	122,845,494 (GRCm39)	missense	probably damaging	0.99
R4791:Mon2	UTSW	10	122,841,962 (GRCm39)	missense	probably benign	0.01
R4797:Mon2	UTSW	10	122,852,422 (GRCm39)	missense	probably benign	0.45
R4944:Mon2	UTSW	10	122,874,364 (GRCm39)	critical splice donor site	probably null
R4982:Mon2	UTSW	10	122,831,694 (GRCm39)	missense	probably damaging	1.00
R5298:Mon2	UTSW	10	122,846,511 (GRCm39)	missense	probably benign
R5503:Mon2	UTSW	10	122,868,550 (GRCm39)	missense	possibly damaging	0.54
R5653:Mon2	UTSW	10	122,861,999 (GRCm39)	missense	probably damaging	0.96
R5687:Mon2	UTSW	10	122,844,144 (GRCm39)	missense	probably damaging	0.99
R5838:Mon2	UTSW	10	122,846,397 (GRCm39)	critical splice donor site	probably null
R6108:Mon2	UTSW	10	122,868,600 (GRCm39)	missense	probably benign	0.00
R6182:Mon2	UTSW	10	122,874,564 (GRCm39)	splice site	probably null
R6355:Mon2	UTSW	10	122,858,825 (GRCm39)	missense	possibly damaging	0.58
R6358:Mon2	UTSW	10	122,849,409 (GRCm39)	missense	probably damaging	0.98
R6548:Mon2	UTSW	10	122,871,998 (GRCm39)	missense	probably damaging	1.00
R6557:Mon2	UTSW	10	122,852,307 (GRCm39)	missense	probably damaging	1.00
R6649:Mon2	UTSW	10	122,874,385 (GRCm39)	missense	possibly damaging	0.46
R7140:Mon2	UTSW	10	122,871,358 (GRCm39)	missense	probably benign	0.00
R7303:Mon2	UTSW	10	122,874,364 (GRCm39)	critical splice donor site	probably null
R7317:Mon2	UTSW	10	122,849,851 (GRCm39)	missense	probably damaging	0.97
R7355:Mon2	UTSW	10	122,845,421 (GRCm39)	missense	probably benign
R7508:Mon2	UTSW	10	122,859,844 (GRCm39)	missense	probably damaging	1.00
R7509:Mon2	UTSW	10	122,868,457 (GRCm39)	missense	probably benign
R7647:Mon2	UTSW	10	122,841,931 (GRCm39)	missense	probably benign
R7720:Mon2	UTSW	10	122,868,493 (GRCm39)	missense	probably benign	0.00
R7799:Mon2	UTSW	10	122,878,236 (GRCm39)	missense	probably benign	0.41
R7801:Mon2	UTSW	10	122,895,091 (GRCm39)	critical splice donor site	probably null
R7823:Mon2	UTSW	10	122,868,559 (GRCm39)	missense	probably damaging	1.00
R7985:Mon2	UTSW	10	122,852,213 (GRCm39)	missense	probably damaging	1.00
R8310:Mon2	UTSW	10	122,838,688 (GRCm39)	missense	probably damaging	1.00
R8810:Mon2	UTSW	10	122,845,516 (GRCm39)	missense	possibly damaging	0.94
R8825:Mon2	UTSW	10	122,849,776 (GRCm39)	missense	probably benign	0.00
R8937:Mon2	UTSW	10	122,895,110 (GRCm39)	missense	probably benign
R8978:Mon2	UTSW	10	122,871,469 (GRCm39)	nonsense	probably null
R9011:Mon2	UTSW	10	122,862,213 (GRCm39)	missense	possibly damaging	0.95
R9213:Mon2	UTSW	10	122,872,016 (GRCm39)	nonsense	probably null
R9358:Mon2	UTSW	10	122,868,452 (GRCm39)	missense	probably benign	0.00
R9630:Mon2	UTSW	10	122,874,415 (GRCm39)	missense	probably damaging	1.00
X0022:Mon2	UTSW	10	122,842,007 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- ACCAATGACCTCAGTTCCATCTAG -3'
(R):5'- AGGTTGTTCATCAGTGCCTTTC -3'

Sequencing Primer
(F):5'- GAAATCTCTTGGTTTTGAGCAATC -3'
(R):5'- AGTGCCTTTCATCTTATTGATATCC -3'

Posted On

2015-04-30