Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00497:Mon2'

4650

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

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL00497

Quality Score

Status

Chromosome

Chromosomal Location

122827965-122912410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122862204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 740 (L740S)

Ref Sequence

ENSEMBL: ENSMUSP00000073462 (fasta)

Gene Model

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

AlphaFold

Q80TL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037557
AA Change: L740S

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

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: L740S

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: L740S

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

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: L740S

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: L741S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: L741S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	G	A	3: 79,538,598 (GRCm39)		probably benign	Het
Aatk	C	T	11: 119,901,012 (GRCm39)	R1128Q	probably benign	Het
Acot6	C	T	12: 84,156,212 (GRCm39)	R387C	probably damaging	Het
Adam11	A	G	11: 102,660,973 (GRCm39)	E118G	probably damaging	Het
Adcyap1r1	G	A	6: 55,449,264 (GRCm39)	V73I	probably damaging	Het
Apol8	T	C	15: 77,634,214 (GRCm39)	T121A	probably damaging	Het
Bltp2	A	G	11: 78,163,759 (GRCm39)	N1076D	probably damaging	Het
Ccdc91	C	A	6: 147,508,485 (GRCm39)	Q404K	unknown	Het
Cpt1b	T	C	15: 89,306,496 (GRCm39)	K294R	probably benign	Het
Dnah6	A	C	6: 73,172,744 (GRCm39)	V238G	probably damaging	Het
Dscaml1	T	C	9: 45,663,536 (GRCm39)	S1920P	probably damaging	Het
Gcfc2	A	T	6: 81,934,951 (GRCm39)	I737L	probably benign	Het
Gmeb1	A	G	4: 131,955,296 (GRCm39)	V293A	probably benign	Het
Gpi-ps	T	C	8: 5,690,563 (GRCm39)		noncoding transcript	Het
Hibch	A	G	1: 52,924,349 (GRCm39)		probably benign	Het
Ifnab	A	G	4: 88,609,419 (GRCm39)	Y16H	probably benign	Het
Il17rc	T	C	6: 113,451,132 (GRCm39)	V155A	probably damaging	Het
Lrr1	A	G	12: 69,221,356 (GRCm39)	H166R	probably benign	Het
Map4k5	G	T	12: 69,892,506 (GRCm39)	A141E	probably damaging	Het
Mettl17	A	T	14: 52,126,292 (GRCm39)	K233N	probably damaging	Het
Mpdz	A	C	4: 81,253,979 (GRCm39)	I1051S	probably benign	Het
Mroh8	A	G	2: 157,058,834 (GRCm39)	F944S	probably damaging	Het
Myh13	A	G	11: 67,233,314 (GRCm39)	Y611C	probably damaging	Het
Npat	A	G	9: 53,478,100 (GRCm39)	N951D	possibly damaging	Het
Osmr	T	C	15: 6,876,547 (GRCm39)	S126G	probably benign	Het
Parp14	T	C	16: 35,655,206 (GRCm39)	Y1755C	probably damaging	Het
Phf14	T	C	6: 11,941,423 (GRCm39)		probably benign	Het
Prex2	T	A	1: 11,256,876 (GRCm39)	M1196K	possibly damaging	Het
Prkd1	A	T	12: 50,430,264 (GRCm39)	D614E	probably damaging	Het
Ptprm	A	G	17: 67,124,967 (GRCm39)	L794P	probably damaging	Het
Rb1	C	T	14: 73,502,038 (GRCm39)	R449H	probably damaging	Het
Scfd1	A	G	12: 51,474,652 (GRCm39)	D469G	probably benign	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Sgo1	A	G	17: 53,984,130 (GRCm39)		probably benign	Het
Slc11a1	A	G	1: 74,421,057 (GRCm39)		probably null	Het
Snw1	A	G	12: 87,499,350 (GRCm39)		probably null	Het
Stac3	T	C	10: 127,339,533 (GRCm39)	I143T	probably damaging	Het
Tcta	A	T	9: 108,183,115 (GRCm39)	L10Q	probably damaging	Het
Tha1	T	C	11: 117,761,831 (GRCm39)		probably benign	Het
Trmt1	T	C	8: 85,422,138 (GRCm39)	M254T	possibly damaging	Het
Trps1	T	A	15: 50,524,703 (GRCm39)	M887L	possibly damaging	Het
Zfyve28	A	G	5: 34,400,539 (GRCm39)	V53A	probably damaging	Het

Other mutations in Mon2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20