Mutagenetix > Incidental Mutation

Incidental Mutation 'R4505:Mon2'

331982

Institutional Source

Beutler Lab

Gene Symbol

Mon2

Ensembl Gene

ENSMUSG00000034602

Gene Name

MON2 homolog, regulator of endosome to Golgi trafficking

Synonyms

2610528O22Rik, SF21

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R4505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122827965-122912410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122845494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1405 (S1405P)

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: S1404P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: S1404P

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: S1411P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: S1411P

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: S1405P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: S1405P

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: ENSMUST00000222536

Meta Mutation Damage Score

0.4538

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,152,445 (GRCm39)	I1367N	probably damaging	Het
Acbd4	A	G	11: 102,995,605 (GRCm39)		probably benign	Het
Adarb2	A	T	13: 8,747,727 (GRCm39)	S428C	probably damaging	Het
Atl3	T	A	19: 7,498,184 (GRCm39)	D193E	probably benign	Het
Bhlhe22	T	C	3: 18,109,123 (GRCm39)	S58P	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Epha10	A	G	4: 124,809,480 (GRCm39)		probably benign	Het
Farp2	A	T	1: 93,546,732 (GRCm39)	N917I	probably damaging	Het
Fbh1	A	G	2: 11,753,828 (GRCm39)	V838A	possibly damaging	Het
Fras1	T	A	5: 96,929,207 (GRCm39)	N3870K	probably damaging	Het
Gm6632	C	T	5: 59,211,821 (GRCm39)		noncoding transcript	Het
Gpr20	T	C	15: 73,568,321 (GRCm39)	T23A	probably benign	Het
Grb14	A	C	2: 64,852,912 (GRCm39)	V26G	probably damaging	Het
H2-T5	A	T	17: 36,472,372 (GRCm39)		probably benign	Het
Itgb4	G	A	11: 115,874,087 (GRCm39)		silent	Het
Jak1	T	C	4: 101,011,800 (GRCm39)	T1101A	probably benign	Het
Kcnq3	A	T	15: 65,867,191 (GRCm39)	Y817*	probably null	Het
Krtcap2	A	G	3: 89,153,563 (GRCm39)		probably benign	Het
Lhx5	C	A	5: 120,578,073 (GRCm39)	H298N	possibly damaging	Het
Lrig3	C	T	10: 125,849,216 (GRCm39)	P979S	probably benign	Het
Map3k13	A	G	16: 21,740,928 (GRCm39)	S752G	probably benign	Het
Map4	T	C	9: 109,861,253 (GRCm39)	S206P	probably benign	Het
Mvb12a	G	T	8: 71,996,103 (GRCm39)	A86S	probably benign	Het
Or5p62	T	C	7: 107,771,175 (GRCm39)	I259V	probably benign	Het
Or8a1b	C	T	9: 37,622,760 (GRCm39)	V272I	probably benign	Het
Pithd1	T	C	4: 135,706,144 (GRCm39)	N37S	probably benign	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Prb1a	T	A	6: 132,184,533 (GRCm39)	R367*	probably null	Het
Psmb4	A	C	3: 94,793,456 (GRCm39)	Y142D	probably damaging	Het
Ptprs	T	C	17: 56,758,678 (GRCm39)	N181S	possibly damaging	Het
Rcbtb2	T	C	14: 73,411,345 (GRCm39)	L370P	probably damaging	Het
Ric8a	A	G	7: 140,438,429 (GRCm39)	I223V	probably benign	Het
Runx1t1	G	T	4: 13,889,676 (GRCm39)	C535F	probably damaging	Het
Samd4b	A	G	7: 28,106,925 (GRCm39)	M329T	probably benign	Het
Serpinb9g	T	A	13: 33,670,546 (GRCm39)	F11L	probably damaging	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Sp110	T	G	1: 85,516,894 (GRCm39)	Q201P	probably damaging	Het
Taar3	A	G	10: 23,825,471 (GRCm39)	I6V	possibly damaging	Het
Tjp2	T	C	19: 24,086,195 (GRCm39)	T776A	possibly damaging	Het
Tmc1	C	T	19: 20,845,738 (GRCm39)	V162I	probably benign	Het
Upf1	G	A	8: 70,790,216 (GRCm39)	R637C	probably damaging	Het
Ush2a	A	G	1: 188,460,793 (GRCm39)	T2685A	possibly damaging	Het
Vmn2r102	C	T	17: 19,880,845 (GRCm39)	T62I	probably benign	Het
Vps13c	A	T	9: 67,846,316 (GRCm39)	Q2128L	probably benign	Het
Zfp26	T	C	9: 20,353,561 (GRCm39)	E76G	probably benign	Het
Zfp28	T	C	7: 6,397,160 (GRCm39)	S532P	probably damaging	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
R4058:Mon2	UTSW	10	122,838,724 (GRCm39)	missense	probably benign	0.17
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
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'- TGCTTGCCAAATACAATCCATG -3'
(R):5'- TAGCTGGAACTTTTGCCTGAATG -3'

Sequencing Primer
(F):5'- CCCAATATACTGCCTAGAGAA -3'
(R):5'- GGAACTTTTGCCTGAATGAGAATTC -3'

Posted On

2015-07-21