Mutagenetix > Incidental Mutation

Incidental Mutation 'R3711:Mon1b'

259608

Institutional Source

Beutler Lab

Gene Symbol

Mon1b

Ensembl Gene

ENSMUSG00000078908

Gene Name

MON1 homolog B, secretory traffciking associated

Synonyms

5033413H12Rik

MMRRC Submission

040704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R3711 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114362219-114371811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114365779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 369 (M369T)

Ref Sequence

ENSEMBL: ENSMUSP00000137605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034219] [ENSMUST00000035777] [ENSMUST00000095173] [ENSMUST00000179926] [ENSMUST00000212269]

AlphaFold

Q8BMQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000034219

SMART Domains

Protein: ENSMUSP00000034219
Gene: ENSMUSG00000033409

Domain	Start	End	E-Value	Type
Pfam:SYCE1	45	135	4.4e-39	PFAM
low complexity region	139	154	N/A	INTRINSIC
low complexity region	196	212	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035777
AA Change: M369T

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045089
Gene: ENSMUSG00000078908
AA Change: M369T

Domain	Start	End	E-Value	Type
Pfam:Mon1	105	533	5.5e-172	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095173

SMART Domains

Protein: ENSMUSP00000092796
Gene: ENSMUSG00000033409

Domain	Start	End	E-Value	Type
Pfam:SYCE1	45	172	8.3e-47	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179926
AA Change: M369T

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137605
Gene: ENSMUSG00000078908
AA Change: M369T

Domain	Start	End	E-Value	Type
Pfam:Mon1	110	532	3.3e-126	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212017

Predicted Effect

probably benign
Transcript: ENSMUST00000212269

Meta Mutation Damage Score

0.6003

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,837,081 (GRCm39)	V1138A	possibly damaging	Het
Adgrv1	A	T	13: 81,567,594 (GRCm39)	I5193K	probably benign	Het
Adnp	A	T	2: 168,026,743 (GRCm39)	I184N	probably damaging	Het
Ahnak	T	G	19: 8,985,262 (GRCm39)	V2182G	probably benign	Het
Aif1l	T	A	2: 31,859,763 (GRCm39)	F94L	probably damaging	Het
Aspm	G	A	1: 139,385,838 (GRCm39)	G494D	probably benign	Het
Atic	T	A	1: 71,617,738 (GRCm39)	S563T	probably benign	Het
Bahcc1	A	T	11: 120,165,923 (GRCm39)	I1060F	probably benign	Het
Cd27	A	G	6: 125,210,281 (GRCm39)	Y189H	probably damaging	Het
Dnm2	C	A	9: 21,417,669 (GRCm39)		probably benign	Het
Exo1	A	G	1: 175,721,395 (GRCm39)	T345A	probably benign	Het
Fbf1	T	C	11: 116,052,299 (GRCm39)	H53R	possibly damaging	Het
Fbf1	A	G	11: 116,054,179 (GRCm39)	I29T	probably damaging	Het
Gm14399	G	A	2: 174,973,303 (GRCm39)	R151*	probably null	Het
Gsdma	T	A	11: 98,557,045 (GRCm39)	Y53*	probably null	Het
Hid1	A	T	11: 115,249,601 (GRCm39)	L208Q	probably damaging	Het
Kif4-ps	A	G	12: 101,112,312 (GRCm39)	E147G	probably damaging	Het
Kif7	A	T	7: 79,360,640 (GRCm39)	V245D	probably benign	Het
Klhdc4	A	G	8: 122,524,794 (GRCm39)	V378A	probably benign	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp4	T	A	2: 91,332,299 (GRCm39)	N1665K	probably benign	Het
Mast3	C	A	8: 71,232,251 (GRCm39)	R1242L	probably benign	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Narf	G	T	11: 121,137,764 (GRCm39)	E224*	probably null	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Nmnat3	T	A	9: 98,292,276 (GRCm39)	Y108N	probably damaging	Het
Npr2	A	T	4: 43,643,378 (GRCm39)	Y534F	probably benign	Het
Obox5	A	T	7: 15,492,713 (GRCm39)	M223L	probably benign	Het
Optc	A	T	1: 133,832,819 (GRCm39)	S94T	probably benign	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or1l4	A	G	2: 37,091,285 (GRCm39)	T11A	probably benign	Het
Or5d47	A	T	2: 87,804,066 (GRCm39)	N314K	probably benign	Het
Or6c206	A	T	10: 129,097,093 (GRCm39)	K88*	probably null	Het
Or8w1	T	C	2: 87,466,025 (GRCm39)	D22G	probably benign	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Stab2	A	G	10: 86,702,572 (GRCm39)	L423P	probably damaging	Het
Sun5	A	G	2: 153,709,468 (GRCm39)	V74A	probably benign	Het
Tanc2	A	G	11: 105,689,516 (GRCm39)	Y226C	probably damaging	Het
Tlr6	T	C	5: 65,111,152 (GRCm39)	D585G	possibly damaging	Het
Tmt1a3	A	T	15: 100,232,961 (GRCm39)	M51L	probably benign	Het
Tnrc6c	A	G	11: 117,613,950 (GRCm39)	T863A	probably benign	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Wt1	G	A	2: 104,993,773 (GRCm39)		probably benign	Het
Ythdc2	C	T	18: 44,966,240 (GRCm39)	L159F	probably damaging	Het
Zc3h6	A	G	2: 128,859,251 (GRCm39)	N1094S	probably benign	Het
Zdbf2	T	C	1: 63,347,830 (GRCm39)	S2070P	possibly damaging	Het
Zfp648	T	A	1: 154,080,304 (GRCm39)	S154R	probably benign	Het
Zfp748	A	G	13: 67,688,915 (GRCm39)	C782R	probably damaging	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	probably damaging	Het

Other mutations in Mon1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02487:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02525:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02526:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02565:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02577:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02578:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02579:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02580:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02667:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
IGL02703:Mon1b	APN	8	114,365,455 (GRCm39)	missense	possibly damaging	0.90
PIT4651001:Mon1b	UTSW	8	114,365,254 (GRCm39)	missense	probably benign	0.33
R0326:Mon1b	UTSW	8	114,364,375 (GRCm39)	missense	probably benign	0.24
R0388:Mon1b	UTSW	8	114,365,710 (GRCm39)	missense	probably damaging	0.98
R1667:Mon1b	UTSW	8	114,368,589 (GRCm39)	missense	probably damaging	0.99
R2426:Mon1b	UTSW	8	114,365,752 (GRCm39)	missense	probably damaging	0.99
R4896:Mon1b	UTSW	8	114,365,859 (GRCm39)	missense	probably damaging	0.97
R4912:Mon1b	UTSW	8	114,368,585 (GRCm39)	nonsense	probably null
R5004:Mon1b	UTSW	8	114,365,859 (GRCm39)	missense	probably damaging	0.97
R5243:Mon1b	UTSW	8	114,364,553 (GRCm39)	missense	possibly damaging	0.86
R5331:Mon1b	UTSW	8	114,362,899 (GRCm39)	missense	probably null	0.25
R6375:Mon1b	UTSW	8	114,364,709 (GRCm39)	missense	probably damaging	0.97
R6461:Mon1b	UTSW	8	114,365,170 (GRCm39)	missense	probably damaging	1.00
R6873:Mon1b	UTSW	8	114,368,697 (GRCm39)	missense	probably damaging	1.00
R8250:Mon1b	UTSW	8	114,366,351 (GRCm39)	missense	probably damaging	0.98
R8765:Mon1b	UTSW	8	114,362,881 (GRCm39)	missense	possibly damaging	0.72
R9174:Mon1b	UTSW	8	114,365,689 (GRCm39)	missense	probably damaging	0.97
Z1176:Mon1b	UTSW	8	114,364,441 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTACAGTTGCTGCTTGACTGG -3'
(R):5'- AATCAACTTGGGGTCAGGGC -3'

Sequencing Primer
(F):5'- TGACTGGGTGGGTGCACC -3'
(R):5'- ACCTGGTAAACTGTGGCAGC -3'

Posted On

2015-01-23