Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01362:Mon1a'

75796

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mon1a

Ensembl Gene

ENSMUSG00000032583

Gene Name

MON1 homolog A, secretory traffciking associated

Synonyms

2810468K17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01362

Quality Score

Status

Chromosome

Chromosomal Location

107765350-107780338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107779883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 484 (L484P)

Ref Sequence

ENSEMBL: ENSMUSP00000035202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035202] [ENSMUST00000035203] [ENSMUST00000191906] [ENSMUST00000195617]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035202
AA Change: L484P

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

SMART Domains

Protein: ENSMUSP00000035202
Gene: ENSMUSG00000032583
AA Change: L484P

Domain	Start	End	E-Value	Type
Pfam:Mon1	151	555	1.2e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000035203

SMART Domains

Protein: ENSMUSP00000035203
Gene: ENSMUSG00000032584

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Sema	57	510	9.03e-116	SMART
PSI	528	570	8.72e-4	SMART
IPT	570	684	1.63e-18	SMART
IPT	685	769	4.03e-23	SMART
IPT	771	873	8.41e-12	SMART
IPT	878	972	5.36e0	SMART
TyrKc	1059	1318	8.2e-134	SMART
low complexity region	1349	1360	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158380

Predicted Effect

probably benign
Transcript: ENSMUST00000191906

SMART Domains

Protein: ENSMUSP00000141516
Gene: ENSMUSG00000032583

Domain	Start	End	E-Value	Type
Pfam:Mon1	146	461	1.1e-138	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195617

SMART Domains

Protein: ENSMUSP00000142201
Gene: ENSMUSG00000032584

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Sema	57	442	3.5e-63	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,261,322 (GRCm39)	D733V	probably benign	Het
Baz2a	G	A	10: 127,957,833 (GRCm39)	G1062D	probably damaging	Het
Bmp8a	C	A	4: 123,207,094 (GRCm39)	R389L	probably damaging	Het
Ccdc148	A	G	2: 58,719,811 (GRCm39)	V488A	probably benign	Het
Cdh24	T	C	14: 54,875,889 (GRCm39)	I227V	probably benign	Het
Dnah6	A	G	6: 73,069,161 (GRCm39)	F2509L	probably damaging	Het
Dusp1	A	G	17: 26,725,618 (GRCm39)	I247T	probably benign	Het
Erich6	G	A	3: 58,529,781 (GRCm39)		probably null	Het
Fam186b	T	C	15: 99,178,199 (GRCm39)	T376A	probably benign	Het
Gbp9	T	C	5: 105,228,072 (GRCm39)	E570G	probably damaging	Het
Gm5117	G	T	8: 32,227,947 (GRCm39)		noncoding transcript	Het
Gpr37l1	A	G	1: 135,089,216 (GRCm39)	V283A	probably benign	Het
Heatr5b	A	G	17: 79,123,767 (GRCm39)		probably benign	Het
Ifit1bl2	G	A	19: 34,596,884 (GRCm39)	T244I	probably benign	Het
Mcoln1	T	C	8: 3,557,558 (GRCm39)	V188A	possibly damaging	Het
Mrgprg	T	A	7: 143,318,806 (GRCm39)	D102V	probably damaging	Het
Mto1	T	A	9: 78,360,056 (GRCm39)	S181R	probably benign	Het
Myh11	C	T	16: 14,095,586 (GRCm39)	V59I	probably benign	Het
Myo7a	G	A	7: 97,746,909 (GRCm39)	T163I	probably damaging	Het
Nr4a3	A	C	4: 48,051,586 (GRCm39)	Q142H	possibly damaging	Het
Or14c41	A	T	7: 86,234,647 (GRCm39)	T55S	possibly damaging	Het
Or2a14	A	G	6: 43,130,569 (GRCm39)	E110G	probably damaging	Het
Or2y15	A	G	11: 49,351,270 (GRCm39)	I255V	probably benign	Het
Or8b8	A	G	9: 37,809,359 (GRCm39)	I220V	probably benign	Het
Pkd1l2	A	G	8: 117,748,595 (GRCm39)	S1859P	probably damaging	Het
Pkhd1l1	A	G	15: 44,396,378 (GRCm39)	T1967A	probably benign	Het
Plppr3	C	T	10: 79,701,795 (GRCm39)	R349Q	probably damaging	Het
Ppp2r5d	A	G	17: 46,996,443 (GRCm39)		probably null	Het
Prl2c2	C	T	13: 13,176,828 (GRCm39)	C33Y	probably damaging	Het
Prl3d2	T	A	13: 27,306,438 (GRCm39)	L55*	probably null	Het
Ralgapb	C	T	2: 158,277,385 (GRCm39)	R250C	probably damaging	Het
Scamp3	C	T	3: 89,086,441 (GRCm39)	P63S	probably benign	Het
Slc22a6	A	G	19: 8,598,572 (GRCm39)	I210V	possibly damaging	Het
Stard13	T	A	5: 151,113,417 (GRCm39)	H48L	probably benign	Het
Tm6sf2	G	A	8: 70,530,565 (GRCm39)	R215H	probably damaging	Het
Twist2	T	C	1: 91,729,650 (GRCm39)	L101P	probably damaging	Het
Uvrag	A	G	7: 98,537,720 (GRCm39)	S492P	probably benign	Het
Zan	T	C	5: 137,450,712 (GRCm39)	T1622A	unknown	Het
Zswim2	T	A	2: 83,745,690 (GRCm39)	T583S	probably benign	Het

Other mutations in Mon1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Mon1a	APN	9	107,778,814 (GRCm39)	missense	probably damaging	1.00
IGL02223:Mon1a	APN	9	107,778,484 (GRCm39)	missense	probably damaging	1.00
IGL02268:Mon1a	APN	9	107,778,997 (GRCm39)	missense	possibly damaging	0.95
R1334:Mon1a	UTSW	9	107,778,562 (GRCm39)	missense	probably damaging	0.99
R1708:Mon1a	UTSW	9	107,775,917 (GRCm39)	missense	probably benign	0.27
R1753:Mon1a	UTSW	9	107,778,562 (GRCm39)	missense	probably damaging	0.99
R3774:Mon1a	UTSW	9	107,778,502 (GRCm39)	missense	probably damaging	1.00
R4964:Mon1a	UTSW	9	107,779,850 (GRCm39)	missense	probably damaging	1.00
R4966:Mon1a	UTSW	9	107,779,850 (GRCm39)	missense	probably damaging	1.00
R5586:Mon1a	UTSW	9	107,775,894 (GRCm39)	missense	probably damaging	0.99
R5636:Mon1a	UTSW	9	107,778,439 (GRCm39)	missense	probably damaging	1.00
R6816:Mon1a	UTSW	9	107,777,609 (GRCm39)	missense	probably damaging	1.00
R7080:Mon1a	UTSW	9	107,778,985 (GRCm39)	missense	probably damaging	1.00
R7709:Mon1a	UTSW	9	107,777,327 (GRCm39)	missense	probably benign	0.05
R7820:Mon1a	UTSW	9	107,778,511 (GRCm39)	missense	probably damaging	1.00
R8263:Mon1a	UTSW	9	107,775,993 (GRCm39)	missense	probably benign
R9083:Mon1a	UTSW	9	107,779,835 (GRCm39)	missense	probably damaging	1.00
R9750:Mon1a	UTSW	9	107,778,778 (GRCm39)	missense	probably damaging	1.00
RF009:Mon1a	UTSW	9	107,778,433 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07