Mutagenetix > Incidental Mutation

Incidental Mutation 'R7564:Amn1'

585308

Institutional Source

Beutler Lab

Gene Symbol

Amn1

Ensembl Gene

ENSMUSG00000068250

Gene Name

antagonist of mitotic exit network 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R7564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149157147-149188712 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 149185031 bp (GRCm38)

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: 99.5%
20x: 98.6%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	G	A	9: 104,123,089	E681K	possibly damaging	Het
Accsl	A	T	2: 93,858,156	M411K	possibly damaging	Het
Bag4	G	A	8: 25,777,479	R108*	probably null	Het
BC037034	C	A	5: 138,262,842		probably null	Het
C130060K24Rik	G	T	6: 65,452,907	E196*	probably null	Het
C87977	C	A	4: 144,212,955	C4F	probably damaging	Het
Cpa1	C	T	6: 30,641,768	T197M	probably damaging	Het
Cyb561d2	A	G	9: 107,541,019	V50A	probably benign	Het
Dact1	A	G	12: 71,318,551	D665G	probably damaging	Het
Dcaf4	G	A	12: 83,541,523	V499I	probably damaging	Het
Depdc5	T	G	5: 32,901,510	I274M	probably damaging	Het
Dnah3	T	A	7: 119,971,594	Q2219L	probably benign	Het
Ect2	A	T	3: 27,116,123		probably benign	Het
Efcab14	C	A	4: 115,759,962	S289R	probably benign	Het
Fmn2	T	C	1: 174,609,574	L1037P	unknown	Het
Fsip2	G	A	2: 82,989,017	M5031I	probably benign	Het
Gm19410	A	G	8: 35,806,997	M1435V	probably benign	Het
Gm8005	G	T	14: 42,439,542	Q44K		Het
Hdgfl2	T	A	17: 56,099,860	D591E	unknown	Het
Hk3	C	A	13: 55,011,396	C449F	probably damaging	Het
Hmcn1	T	C	1: 150,655,835	M3228V	probably benign	Het
Kifap3	C	T	1: 163,915,768	R773C	probably damaging	Het
Kndc1	T	C	7: 139,920,696	V659A	probably benign	Het
Lhb	C	T	7: 45,421,677	R109C	probably damaging	Het
Lnpep	A	G	17: 17,578,592	I267T	probably benign	Het
Lypla1	T	A	1: 4,808,367		probably null	Het
Map3k21	T	C	8: 125,927,708		probably null	Het
Mapkbp1	A	G	2: 120,013,751	T319A	probably benign	Het
Mms19	T	C	19: 41,947,016	T854A	probably benign	Het
Mphosph8	A	G	14: 56,674,038	T173A	probably benign	Het
Mtcl1	C	T	17: 66,371,327	R668H	probably benign	Het
Myo5b	G	A	18: 74,634,511	E297K	possibly damaging	Het
Nrg2	A	T	18: 36,024,396	L412Q	probably damaging	Het
Nrtn	T	C	17: 56,751,473	D176G	probably damaging	Het
Nrxn1	G	T	17: 90,362,906	Q1134K	possibly damaging	Het
Olfr574	C	T	7: 102,949,266	P267L	probably damaging	Het
Oog4	CAA	CA	4: 143,437,452		probably null	Het
Pick1	T	C	15: 79,255,581	V360A	unknown	Het
Pigr	T	A	1: 130,841,666	N71K	possibly damaging	Het
Ppox	T	C	1: 171,280,191	N96S	probably benign	Het
Rasa1	T	C	13: 85,228,708	T603A	probably benign	Het
Rhd	T	C	4: 134,876,459	L97P	probably damaging	Het
Sec61a2	T	C	2: 5,882,604	I147V	probably benign	Het
Sh3bp1	C	T	15: 78,911,560	P630S	probably damaging	Het
Sh3d21	T	C	4: 126,151,144	T581A	probably benign	Het
Slc36a2	A	G	11: 55,162,672	I380T	probably benign	Het
Slc36a4	T	A	9: 15,726,812	V178D	probably damaging	Het
Smad7	C	A	18: 75,393,835	L251I	probably benign	Het
Sspo	G	A	6: 48,449,500	S151N	probably benign	Het
St3gal4	C	T	9: 35,052,253	R253Q	probably benign	Het
Ttbk1	T	C	17: 46,476,931	I242V	possibly damaging	Het
Ttn	G	A	2: 76,968,520	A470V	unknown	Het
Unc13b	T	C	4: 43,091,258	V28A	probably damaging	Het
Vmn1r149	A	G	7: 22,438,105	V42A	possibly damaging	Het
Zbtb21	A	T	16: 97,951,540	C514*	probably null	Het
Zfp236	A	T	18: 82,644,241	C570*	probably null	Het
Zfp277	T	A	12: 40,329,595	R313S	probably damaging	Het
Zfp329	A	T	7: 12,811,040	C186S	probably damaging	Het
Zscan4-ps2	A	G	7: 11,515,027		probably benign	Het

Other mutations in Amn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02391:Amn1	APN	6	149169446	critical splice donor site	probably null
PIT4453001:Amn1	UTSW	6	149170859	missense	probably benign	0.00
R0153:Amn1	UTSW	6	149188593	utr 5 prime	probably benign
R0494:Amn1	UTSW	6	149185136	unclassified	probably benign
R0557:Amn1	UTSW	6	149171005	missense	possibly damaging	0.50
R0717:Amn1	UTSW	6	149183472	missense	possibly damaging	0.88
R0736:Amn1	UTSW	6	149183472	missense	possibly damaging	0.88
R3420:Amn1	UTSW	6	149169452	nonsense	probably null
R3421:Amn1	UTSW	6	149169452	nonsense	probably null
R4466:Amn1	UTSW	6	149166845	splice site	probably null
R4760:Amn1	UTSW	6	149185113	missense	probably benign
R5294:Amn1	UTSW	6	149185124	unclassified	probably benign
R5356:Amn1	UTSW	6	149166894	missense	possibly damaging	0.80
R5561:Amn1	UTSW	6	149185024	missense	probably damaging	0.98
R7501:Amn1	UTSW	6	149185031	missense	probably benign	0.19
R7643:Amn1	UTSW	6	149185031	missense	probably benign	0.19
R7645:Amn1	UTSW	6	149185031	missense	probably benign	0.19
R8097:Amn1	UTSW	6	149169355	unclassified	probably benign
R9390:Amn1	UTSW	6	149183485	missense	probably damaging	1.00
R9565:Amn1	UTSW	6	149188605	start gained	probably benign
X0064:Amn1	UTSW	6	149171035	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2019-10-17