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

C730024G19Rik

MMRRC Submission

045656-MU

Accession Numbers

Essential gene?

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

Stock #

R7564 (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: 99.5%
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: 104,000,288 (GRCm39)	E681K	possibly damaging	Het
Accsl	A	T	2: 93,688,501 (GRCm39)	M411K	possibly damaging	Het
Bag4	G	A	8: 26,267,507 (GRCm39)	R108*	probably null	Het
Cpa1	C	T	6: 30,641,767 (GRCm39)	T197M	probably damaging	Het
Cyb561d2	A	G	9: 107,418,218 (GRCm39)	V50A	probably benign	Het
Dact1	A	G	12: 71,365,325 (GRCm39)	D665G	probably damaging	Het
Dcaf4	G	A	12: 83,588,297 (GRCm39)	V499I	probably damaging	Het
Depdc5	T	G	5: 33,058,854 (GRCm39)	I274M	probably damaging	Het
Dnah3	T	A	7: 119,570,817 (GRCm39)	Q2219L	probably benign	Het
Ect2	A	T	3: 27,170,272 (GRCm39)		probably benign	Het
Efcab14	C	A	4: 115,617,159 (GRCm39)	S289R	probably benign	Het
Fmn2	T	C	1: 174,437,140 (GRCm39)	L1037P	unknown	Het
Fsip2	G	A	2: 82,819,361 (GRCm39)	M5031I	probably benign	Het
Gm19410	A	G	8: 36,274,151 (GRCm39)	M1435V	probably benign	Het
Gm8005	G	T	14: 42,261,499 (GRCm39)	Q44K		Het
Hdgfl2	T	A	17: 56,406,860 (GRCm39)	D591E	unknown	Het
Hk3	C	A	13: 55,159,209 (GRCm39)	C449F	probably damaging	Het
Hmcn1	T	C	1: 150,531,586 (GRCm39)	M3228V	probably benign	Het
Kifap3	C	T	1: 163,743,337 (GRCm39)	R773C	probably damaging	Het
Kndc1	T	C	7: 139,500,612 (GRCm39)	V659A	probably benign	Het
Lhb	C	T	7: 45,071,101 (GRCm39)	R109C	probably damaging	Het
Lnpep	A	G	17: 17,798,854 (GRCm39)	I267T	probably benign	Het
Lypla1	T	A	1: 4,878,590 (GRCm39)		probably null	Het
Map3k21	T	C	8: 126,654,447 (GRCm39)		probably null	Het
Mapkbp1	A	G	2: 119,844,232 (GRCm39)	T319A	probably benign	Het
Mms19	T	C	19: 41,935,455 (GRCm39)	T854A	probably benign	Het
Mphosph8	A	G	14: 56,911,495 (GRCm39)	T173A	probably benign	Het
Mtcl1	C	T	17: 66,678,322 (GRCm39)	R668H	probably benign	Het
Myo5b	G	A	18: 74,767,582 (GRCm39)	E297K	possibly damaging	Het
Nrg2	A	T	18: 36,157,449 (GRCm39)	L412Q	probably damaging	Het
Nrtn	T	C	17: 57,058,473 (GRCm39)	D176G	probably damaging	Het
Nrxn1	G	T	17: 90,670,334 (GRCm39)	Q1134K	possibly damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or51t4	C	T	7: 102,598,473 (GRCm39)	P267L	probably damaging	Het
Pick1	T	C	15: 79,139,781 (GRCm39)	V360A	unknown	Het
Pigr	T	A	1: 130,769,403 (GRCm39)	N71K	possibly damaging	Het
Ppox	T	C	1: 171,107,765 (GRCm39)	N96S	probably benign	Het
Pramel29	C	A	4: 143,939,525 (GRCm39)	C4F	probably damaging	Het
Qrfprl	G	T	6: 65,429,891 (GRCm39)	E196*	probably null	Het
Rasa1	T	C	13: 85,376,827 (GRCm39)	T603A	probably benign	Het
Rhd	T	C	4: 134,603,770 (GRCm39)	L97P	probably damaging	Het
Sec61a2	T	C	2: 5,887,415 (GRCm39)	I147V	probably benign	Het
Sh3bp1	C	T	15: 78,795,760 (GRCm39)	P630S	probably damaging	Het
Sh3d21	T	C	4: 126,044,937 (GRCm39)	T581A	probably benign	Het
Slc36a2	A	G	11: 55,053,498 (GRCm39)	I380T	probably benign	Het
Slc36a4	T	A	9: 15,638,108 (GRCm39)	V178D	probably damaging	Het
Smad7	C	A	18: 75,526,906 (GRCm39)	L251I	probably benign	Het
Sspo	G	A	6: 48,426,434 (GRCm39)	S151N	probably benign	Het
St3gal4	C	T	9: 34,963,549 (GRCm39)	R253Q	probably benign	Het
Trappc14	C	A	5: 138,261,104 (GRCm39)		probably null	Het
Ttbk1	T	C	17: 46,787,857 (GRCm39)	I242V	possibly damaging	Het
Ttn	G	A	2: 76,798,864 (GRCm39)	A470V	unknown	Het
Unc13b	T	C	4: 43,091,258 (GRCm39)	V28A	probably damaging	Het
Vmn1r149	A	G	7: 22,137,530 (GRCm39)	V42A	possibly damaging	Het
Zbtb21	A	T	16: 97,752,740 (GRCm39)	C514*	probably null	Het
Zfp236	A	T	18: 82,662,366 (GRCm39)	C570*	probably null	Het
Zfp277	T	A	12: 40,379,594 (GRCm39)	R313S	probably damaging	Het
Zfp329	A	T	7: 12,544,967 (GRCm39)	C186S	probably damaging	Het
Zscan4-ps2	A	G	7: 11,248,954 (GRCm39)		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
R7643:Amn1	UTSW	6	149,086,529 (GRCm39)	missense	probably benign	0.19
R7645: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'- GAGGCAGTGATTATGAATGTCATC -3'

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

Posted On

2019-10-17