Mutagenetix > Incidental Mutation

Incidental Mutation 'R7801:Mon2'

600542

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

045856-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R7801 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122827965-122912410 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 122895091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037557] [ENSMUST00000073792] [ENSMUST00000170935] [ENSMUST00000219203]

AlphaFold

Q80TL7

Predicted Effect

probably null
Transcript: ENSMUST00000037557

SMART Domains

Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602

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 null
Transcript: ENSMUST00000073792

SMART Domains

Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602

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 null
Transcript: ENSMUST00000170935

SMART Domains

Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602

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

probably null
Transcript: ENSMUST00000219203

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,558,207 (GRCm39)	Y165C	probably damaging	Het
Agbl3	A	T	6: 34,816,300 (GRCm39)	T742S	probably benign	Het
Arhgef10l	T	C	4: 140,271,578 (GRCm39)	T651A	probably benign	Het
Arsb	T	A	13: 93,998,835 (GRCm39)	I381N	probably damaging	Het
Blzf1	A	G	1: 164,123,478 (GRCm39)	V283A	probably benign	Het
Cadps	C	T	14: 12,489,476 (GRCm38)		probably null	Het
Casz1	A	T	4: 149,022,706 (GRCm39)	T591S	probably damaging	Het
Ccne2	T	C	4: 11,194,079 (GRCm39)		probably null	Het
Chst9	T	C	18: 15,585,334 (GRCm39)	T410A	probably benign	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Fam234a	T	C	17: 26,437,172 (GRCm39)	D169G	probably benign	Het
Fat1	C	T	8: 45,495,260 (GRCm39)	P4116L	probably damaging	Het
Fbxo21	G	T	5: 118,124,189 (GRCm39)	A166S	probably damaging	Het
Gbf1	A	G	19: 46,261,082 (GRCm39)	I1216V	probably benign	Het
Gper1	G	A	5: 139,412,443 (GRCm39)	A263T	probably benign	Het
Hdlbp	G	T	1: 93,358,029 (GRCm39)		probably null	Het
Ighg3	A	T	12: 113,323,436 (GRCm39)	L280Q		Het
Impa1	T	C	3: 10,386,727 (GRCm39)	T171A	probably benign	Het
Ints7	T	A	1: 191,347,859 (GRCm39)	Y744N	possibly damaging	Het
Irgc	G	T	7: 24,131,959 (GRCm39)	A286D	probably damaging	Het
Kif18a	T	C	2: 109,118,190 (GRCm39)	S2P	probably damaging	Het
Macf1	A	T	4: 123,302,064 (GRCm39)	W813R	probably damaging	Het
Mapkbp1	T	G	2: 119,842,554 (GRCm39)	H157Q	probably damaging	Het
Mfsd4b2	T	A	10: 39,799,777 (GRCm39)	M42L	probably benign	Het
Myrfl	T	A	10: 116,684,240 (GRCm39)	H161L	probably benign	Het
Or2aj6	T	C	16: 19,443,373 (GRCm39)	H159R	probably damaging	Het
Or7g19	A	C	9: 18,856,555 (GRCm39)	S204R	probably damaging	Het
Phlpp2	T	G	8: 110,652,474 (GRCm39)	V606G	possibly damaging	Het
Psmb5	T	C	14: 54,854,212 (GRCm39)	T89A	probably benign	Het
Ptpn9	A	G	9: 56,968,297 (GRCm39)	T546A	probably benign	Het
Qrfprl	T	A	6: 65,418,201 (GRCm39)	V123D	probably damaging	Het
Rabep2	A	G	7: 126,037,584 (GRCm39)	M146V	possibly damaging	Het
Rptn	G	A	3: 93,305,531 (GRCm39)	E955K	possibly damaging	Het
Samd3	G	T	10: 26,139,770 (GRCm39)	V301F	possibly damaging	Het
Sh2b1	C	A	7: 126,070,464 (GRCm39)	C380F	probably benign	Het
Shank1	A	G	7: 44,001,022 (GRCm39)	M914V	unknown	Het
Sox2	G	A	3: 34,704,791 (GRCm39)	R76H	probably damaging	Het
Stat5a	T	C	11: 100,771,143 (GRCm39)	F574S	probably damaging	Het
Tbx5	A	G	5: 119,975,064 (GRCm39)	E29G	probably benign	Het
Trpm5	A	C	7: 142,638,978 (GRCm39)	D264E	probably damaging	Het
Zfp442	T	C	2: 150,251,639 (GRCm39)	S88G	probably benign	Het
Zfp62	T	A	11: 49,108,155 (GRCm39)	F749I	possibly damaging	Het
Zfp677	T	A	17: 21,618,277 (GRCm39)	S445T	probably damaging	Het
Zfp979	A	C	4: 147,698,435 (GRCm39)	N91K	probably damaging	Het
Zfyve9	A	G	4: 108,542,192 (GRCm39)	V209A	possibly damaging	Het
Zic4	G	T	9: 91,266,297 (GRCm39)	A314S	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
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
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'- TCAAAGGAACTGGTAGCTTTAAGG -3'
(R):5'- CAAACATAGTAGTGGCACTTTGC -3'

Sequencing Primer
(F):5'- AACTGGTAGCTTTAAGGTCTCTC -3'
(R):5'- GCTGCTGAATCGGGAATA -3'

Posted On

2019-11-26