Mutagenetix > Incidental Mutation

Incidental Mutation 'R4354:Mon2'

327454

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

041107-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R4354 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122827965-122912410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122862888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 680 (T680A)

Ref Sequence

ENSEMBL: ENSMUSP00000131052 (fasta)

Gene Model

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

AlphaFold

Q80TL7

Predicted Effect

probably benign
Transcript: ENSMUST00000037557
AA Change: T679A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: T679A

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: T679A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: T679A

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: T680A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: T680A

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

0.1171

Coding Region Coverage

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

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Abca8b	A	C	11: 109,862,518 (GRCm39)	S416A	probably benign	Het
Abcb4	A	T	5: 8,968,771 (GRCm39)	N370I	probably benign	Het
Abi3bp	T	C	16: 56,353,314 (GRCm39)	F81S	probably benign	Het
Ablim1	C	T	19: 57,143,710 (GRCm39)	C83Y	probably damaging	Het
Adamtsl1	A	T	4: 86,074,921 (GRCm39)	H96L	probably damaging	Het
Alms1-ps1	C	T	6: 85,732,617 (GRCm39)		noncoding transcript	Het
AU040320	A	G	4: 126,748,192 (GRCm39)		probably benign	Het
Chd1	T	A	17: 17,610,263 (GRCm39)	H472Q	probably benign	Het
Chgb	A	T	2: 132,635,864 (GRCm39)	D602V	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gpa33	A	G	1: 165,991,404 (GRCm39)	T212A	possibly damaging	Het
Hspg2	C	A	4: 137,196,222 (GRCm39)	A17E	probably benign	Het
Irf7	T	C	7: 140,845,183 (GRCm39)	R8G	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Loxhd1	T	C	18: 77,483,123 (GRCm39)	Y1235H	probably damaging	Het
Nab1	A	T	1: 52,529,855 (GRCm39)	L14Q	probably damaging	Het
Neu4	C	T	1: 93,952,279 (GRCm39)	T216I	probably damaging	Het
Nle1	A	G	11: 82,797,257 (GRCm39)	C152R	possibly damaging	Het
Nprl3	T	A	11: 32,184,906 (GRCm39)	M368L	probably benign	Het
Nudt9	A	G	5: 104,205,977 (GRCm39)	K129E	probably damaging	Het
Or5c1	T	C	2: 37,221,888 (GRCm39)	L43P	probably damaging	Het
Pdzd8	T	C	19: 59,333,913 (GRCm39)	D36G	probably benign	Het
Pga5	C	T	19: 10,652,190 (GRCm39)		probably null	Het
Pold3	T	C	7: 99,749,824 (GRCm39)	K47E	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rab3gap1	A	G	1: 127,843,378 (GRCm39)	I251V	probably benign	Het
Susd2	G	T	10: 75,475,562 (GRCm39)	F447L	probably damaging	Het
Tbc1d7	T	C	13: 43,323,344 (GRCm39)	K16E	probably damaging	Het
Tlr8	T	G	X: 166,025,868 (GRCm39)	Q994P	probably damaging	Het
Ube2j1	T	C	4: 33,049,682 (GRCm39)	Y227H	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
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
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'- AGAATCCAGTACTGCAGCAGG -3'
(R):5'- TGTCACTCCAGCCATAGTAAC -3'

Sequencing Primer
(F):5'- CAGCAGGCATTGTTTAACTGTTAGC -3'
(R):5'- CAACTTTGTGTTTTGTAAAACCACCC -3'

Posted On

2015-07-07