Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02638:Mon2'

301609

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: 0.898) question?

Stock #

IGL02638

Quality Score

Status

Chromosome

Chromosomal Location

122827965-122912410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 122859844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 811 (W811G)

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: W810G

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

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: W810G

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: W810G

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

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: W810G

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: W811G

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

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: W811G

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: 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh3	T	A	2: 93,838,458 (GRCm39)	T38S	probably benign	Het
Btbd8	T	C	5: 107,656,422 (GRCm39)	V895A	possibly damaging	Het
Cdkn2c	A	G	4: 109,522,209 (GRCm39)		probably benign	Het
Clca4b	A	C	3: 144,631,939 (GRCm39)	C189G	probably damaging	Het
Clec4f	T	A	6: 83,629,682 (GRCm39)	N292I	possibly damaging	Het
Dkk3	A	C	7: 111,748,234 (GRCm39)	S123R	probably benign	Het
Dock1	C	T	7: 134,748,209 (GRCm39)	A1557V	probably benign	Het
E130308A19Rik	C	T	4: 59,719,676 (GRCm39)	Q403*	probably null	Het
F5	G	A	1: 164,012,177 (GRCm39)		probably null	Het
Fam98c	T	A	7: 28,852,187 (GRCm39)	D326V	probably damaging	Het
Firrm	G	A	1: 163,786,868 (GRCm39)	Q734*	probably null	Het
Frem2	A	C	3: 53,458,767 (GRCm39)	V2034G	possibly damaging	Het
Galnt2	G	A	8: 124,958,318 (GRCm39)	G18D	probably damaging	Het
Grhl3	T	C	4: 135,284,176 (GRCm39)	E222G	probably benign	Het
Hif3a	A	C	7: 16,778,293 (GRCm39)		probably benign	Het
Ibtk	C	T	9: 85,601,946 (GRCm39)	G755D	probably damaging	Het
Laptm4b	A	G	15: 34,277,630 (GRCm39)	N187S	probably benign	Het
Lrba	A	G	3: 86,232,380 (GRCm39)	T776A	probably damaging	Het
Matcap2	A	T	9: 22,341,775 (GRCm39)	K149*	probably null	Het
Mfhas1	T	A	8: 36,058,104 (GRCm39)	W860R	possibly damaging	Het
Nup42	A	G	5: 24,380,505 (GRCm39)	T167A	probably benign	Het
Or10j2	A	G	1: 173,097,898 (GRCm39)	D52G	probably benign	Het
Or2z2	C	A	11: 58,345,873 (GRCm39)	A301S	probably damaging	Het
Or4k45	T	C	2: 111,395,249 (GRCm39)	D180G	probably damaging	Het
Or5w10	T	C	2: 87,375,093 (GRCm39)	Y265C	probably damaging	Het
Or8j3c	T	C	2: 86,254,021 (GRCm39)		probably null	Het
Pgap2	T	C	7: 101,886,629 (GRCm39)	L217P	probably damaging	Het
Pik3c2b	T	G	1: 133,005,056 (GRCm39)		probably benign	Het
Ppfia3	T	A	7: 45,006,092 (GRCm39)	D149V	probably damaging	Het
Prkcb	C	T	7: 122,200,063 (GRCm39)		probably benign	Het
Prl	A	G	13: 27,245,562 (GRCm39)	D97G	probably benign	Het
Psma5-ps	T	C	10: 85,149,698 (GRCm39)		noncoding transcript	Het
Rnf112	T	C	11: 61,340,231 (GRCm39)		probably benign	Het
Slc17a8	C	A	10: 89,412,465 (GRCm39)	G323*	probably null	Het
Snx19	T	C	9: 30,343,660 (GRCm39)	F607L	possibly damaging	Het
Suco	A	G	1: 161,655,256 (GRCm39)	S1079P	probably damaging	Het
Taf5	T	C	19: 47,056,649 (GRCm39)	L149P	probably benign	Het
Taf6l	T	C	19: 8,752,630 (GRCm39)	M379V	probably benign	Het
Tcf25	T	C	8: 124,126,031 (GRCm39)	F558L	probably damaging	Het
Tlcd1	T	C	11: 78,070,444 (GRCm39)	V102A	probably benign	Het
Tmc5	G	T	7: 118,226,456 (GRCm39)	A274S	probably benign	Het
Toporsl	C	T	4: 52,611,624 (GRCm39)	H506Y	probably benign	Het
Ubtd1	T	C	19: 42,022,109 (GRCm39)	L127P	possibly damaging	Het
Usp24	A	C	4: 106,295,967 (GRCm39)		probably benign	Het
Usp24	C	A	4: 106,295,969 (GRCm39)		probably benign	Het
Usp43	T	G	11: 67,746,581 (GRCm39)	D1042A	probably benign	Het
Whrn	T	C	4: 63,337,709 (GRCm39)	T48A	possibly damaging	Het
Wnt2b	A	G	3: 104,862,032 (GRCm39)	I102T	probably benign	Het
Zfp763	T	C	17: 33,238,908 (GRCm39)	D79G	probably benign	Het
Zmat4	A	G	8: 24,287,389 (GRCm39)	Y45C	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
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

2015-04-16