Mutagenetix > Incidental Mutation

Incidental Mutation 'R7645:Amn1'

590478

Institutional Source

Beutler Lab

Gene Symbol

Amn1

Ensembl Gene

ENSMUSG00000068250

Gene Name

antagonist of mitotic exit network 1

Synonyms

C730024G19Rik

MMRRC Submission

045701-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149059075-149090210 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 149086529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 44 (M44I)

Ref Sequence

ENSEMBL: ENSMUSP00000107160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095319] [ENSMUST00000111535] [ENSMUST00000141346]

AlphaFold

B8JKV0

Predicted Effect

probably null
Transcript: ENSMUST00000095319
AA Change: M1I

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092957
Gene: ENSMUSG00000068250
AA Change: M1I

Domain	Start	End	E-Value	Type
LRR	17	41	2.82e0	SMART
LRR	42	70	1.52e2	SMART
LRR	71	96	1.25e-1	SMART
LRR	97	122	3.89e-3	SMART
LRR	123	147	1.44e1	SMART
LRR	150	175	1.28e1	SMART
Blast:LRR	176	204	3e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000111535
AA Change: M44I

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107160
Gene: ENSMUSG00000068250
AA Change: M44I

Domain	Start	End	E-Value	Type
LRR	60	84	2.82e0	SMART
LRR	85	113	1.52e2	SMART
LRR	114	139	1.25e-1	SMART
LRR	140	165	3.89e-3	SMART
LRR	166	190	1.44e1	SMART
LRR	193	218	1.28e1	SMART
Blast:LRR	219	247	4e-10	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000141346
AA Change: M1I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000116060
Gene: ENSMUSG00000068250
AA Change: M1I

Domain	Start	End	E-Value	Type
LRR	17	41	2.82e0	SMART
LRR	42	70	1.52e2	SMART
LRR	71	96	1.25e-1	SMART
LRR	97	121	1.44e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156864

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,789 (GRCm39)	C375S	probably benign	Het
Adgrg3	A	G	8: 95,761,392 (GRCm39)		probably benign	Het
Atg2b	T	C	12: 105,589,689 (GRCm39)	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,237,387 (GRCm39)	N290K	probably benign	Het
Ccdc39	T	C	3: 33,879,318 (GRCm39)		probably null	Het
Cnot10	T	C	9: 114,442,705 (GRCm39)	S501G	probably benign	Het
Col6a6	A	G	9: 105,644,397 (GRCm39)		probably null	Het
Coq2	A	C	5: 100,808,116 (GRCm39)	C228W	probably damaging	Het
Cpt2	A	T	4: 107,764,171 (GRCm39)	M531K	possibly damaging	Het
Dennd1a	A	G	2: 37,911,375 (GRCm39)	L204P	probably damaging	Het
Dock9	C	T	14: 121,835,075 (GRCm39)	V1305M	probably benign	Het
Dusp16	A	G	6: 134,702,888 (GRCm39)	I201T	probably damaging	Het
Esco2	T	C	14: 66,064,630 (GRCm39)	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037 (GRCm39)	S158P	probably damaging	Het
Fut10	A	G	8: 31,726,232 (GRCm39)	H329R	possibly damaging	Het
Gpr3	A	G	4: 132,938,640 (GRCm39)	W11R	probably damaging	Het
H2-M3	T	A	17: 37,581,620 (GRCm39)	I94N	probably damaging	Het
Krt7	T	C	15: 101,310,524 (GRCm39)	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,129,373 (GRCm39)		probably benign	Het
Ms4a6b	A	T	19: 11,501,304 (GRCm39)	T105S	probably damaging	Het
Muc6	T	C	7: 141,234,923 (GRCm39)	H592R	probably benign	Het
Ncam1	T	C	9: 49,476,303 (GRCm39)	E262G	probably benign	Het
Or4x11	T	A	2: 89,868,091 (GRCm39)	I276K	possibly damaging	Het
Or5b108	T	C	19: 13,168,937 (GRCm39)	V302A	probably benign	Het
Plxnb1	T	A	9: 108,943,480 (GRCm39)	S1908T	probably damaging	Het
Polg2	A	T	11: 106,666,419 (GRCm39)	M242K	probably benign	Het
Polr3g	T	C	13: 81,842,563 (GRCm39)	T151A	unknown	Het
Pramel51	T	C	12: 88,143,028 (GRCm39)	T392A	probably damaging	Het
Psmb8	T	C	17: 34,419,186 (GRCm39)	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,517,260 (GRCm39)	A176V	possibly damaging	Het
Rreb1	T	C	13: 38,115,010 (GRCm39)	C790R	probably damaging	Het
Rufy3	A	G	5: 88,788,476 (GRCm39)	T506A	probably benign	Het
Samd11	T	C	4: 156,340,243 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,029,450 (GRCm39)	F279L	possibly damaging	Het
Slc49a4	T	A	16: 35,554,438 (GRCm39)		probably null	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,183 (GRCm39)		probably benign	Het
Srgn	C	T	10: 62,330,757 (GRCm39)	W116*	probably null	Het
Svil	A	G	18: 5,099,663 (GRCm39)	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,119,742 (GRCm39)	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,969,182 (GRCm39)	K490M	probably damaging	Het
Tcte1	A	G	17: 45,845,915 (GRCm39)	N173S	probably benign	Het
Tmco6	C	T	18: 36,868,446 (GRCm39)	R31W	probably damaging	Het
Ttn	C	A	2: 76,730,025 (GRCm39)	A5155S	unknown	Het
Tyro3	T	C	2: 119,647,387 (GRCm39)	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,743,340 (GRCm39)	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,664,803 (GRCm39)	L554P	probably damaging	Het
Zfp352	C	T	4: 90,113,014 (GRCm39)	P385S	probably benign	Het

Other mutations in Amn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02391:Amn1	APN	6	149,070,944 (GRCm39)	critical splice donor site	probably null
PIT4453001:Amn1	UTSW	6	149,072,357 (GRCm39)	missense	probably benign	0.00
R0153:Amn1	UTSW	6	149,090,091 (GRCm39)	utr 5 prime	probably benign
R0494:Amn1	UTSW	6	149,086,634 (GRCm39)	unclassified	probably benign
R0557:Amn1	UTSW	6	149,072,503 (GRCm39)	missense	possibly damaging	0.50
R0717:Amn1	UTSW	6	149,084,970 (GRCm39)	missense	possibly damaging	0.88
R0736:Amn1	UTSW	6	149,084,970 (GRCm39)	missense	possibly damaging	0.88
R3420:Amn1	UTSW	6	149,070,950 (GRCm39)	nonsense	probably null
R3421:Amn1	UTSW	6	149,070,950 (GRCm39)	nonsense	probably null
R4466:Amn1	UTSW	6	149,068,343 (GRCm39)	splice site	probably null
R4760:Amn1	UTSW	6	149,086,611 (GRCm39)	missense	probably benign
R5294:Amn1	UTSW	6	149,086,622 (GRCm39)	unclassified	probably benign
R5356:Amn1	UTSW	6	149,068,392 (GRCm39)	missense	possibly damaging	0.80
R5561:Amn1	UTSW	6	149,086,522 (GRCm39)	missense	probably damaging	0.98
R7501:Amn1	UTSW	6	149,086,529 (GRCm39)	missense	probably benign	0.19
R7564:Amn1	UTSW	6	149,086,529 (GRCm39)	missense	probably benign	0.19
R7643:Amn1	UTSW	6	149,086,529 (GRCm39)	missense	probably benign	0.19
R8097:Amn1	UTSW	6	149,070,853 (GRCm39)	unclassified	probably benign
R9390:Amn1	UTSW	6	149,084,983 (GRCm39)	missense	probably damaging	1.00
R9565:Amn1	UTSW	6	149,090,103 (GRCm39)	start gained	probably benign
X0064:Amn1	UTSW	6	149,072,533 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACTGGCTTTTCAAGTCAAAG -3'
(R):5'- GGCAGTGATTATGAATGTCATCAAGC -3'

Sequencing Primer
(F):5'- CTAAAACTAAGTCTAAACAGTGA -3'
(R):5'- GTCTTATGAAAGGACTAAGTGCTGAC -3'

Posted On

2019-10-24