Mutagenetix > Incidental Mutation

Incidental Mutation 'R7643:Amn1'

590347

Institutional Source

Beutler Lab

Gene Symbol

Amn1

Ensembl Gene

ENSMUSG00000068250

Gene Name

antagonist of mitotic exit network 1

Synonyms

C730024G19Rik

MMRRC Submission

045700-MU

Accession Numbers

Essential gene?

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

Stock #

R7643 (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: 99.1%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	G	9: 15,209,156 (GRCm39)	F46S	probably damaging	Het
Acaca	T	C	11: 84,229,182 (GRCm39)	Y1670H	probably damaging	Het
Acrbp	G	A	6: 125,030,795 (GRCm39)	R272Q	possibly damaging	Het
Adcy6	T	A	15: 98,491,449 (GRCm39)	Q1050L	probably benign	Het
Ankrd13b	A	G	11: 77,363,911 (GRCm39)	V395A	probably benign	Het
Ap3b2	T	C	7: 81,126,820 (GRCm39)	K310R	probably benign	Het
Bnc2	T	C	4: 84,424,811 (GRCm39)	D123G	probably benign	Het
Bst1	G	A	5: 43,997,791 (GRCm39)	M263I	probably benign	Het
Ccdc7a	C	T	8: 129,616,292 (GRCm39)	G937E	probably damaging	Het
Cep290	A	G	10: 100,373,415 (GRCm39)	M1232V	probably benign	Het
Cfhr1	A	G	1: 139,481,323 (GRCm39)	Y186H	possibly damaging	Het
Dnah7c	A	T	1: 46,641,973 (GRCm39)	H1203L	probably benign	Het
Emc7	A	G	2: 112,285,624 (GRCm39)	E71G	probably benign	Het
Exoc3l4	G	A	12: 111,388,369 (GRCm39)		probably benign	Het
Fam83c	A	G	2: 155,672,924 (GRCm39)	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,107,536 (GRCm39)	V180L	probably benign	Het
Gbp2b	G	T	3: 142,309,370 (GRCm39)	Q160H	probably benign	Het
Gm19965	C	G	1: 116,749,959 (GRCm39)	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,810,114 (GRCm39)	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,538,179 (GRCm39)	Y303*	probably null	Het
Greb1	T	C	12: 16,761,997 (GRCm39)	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950 (GRCm39)	N36S	probably benign	Het
Hacd1	T	C	2: 14,049,602 (GRCm39)	I119V	probably damaging	Het
Ing5	T	A	1: 93,740,155 (GRCm39)	D101E	probably damaging	Het
Irak4	T	A	15: 94,456,709 (GRCm39)	N297K	probably benign	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Klf5	A	G	14: 99,550,614 (GRCm39)	E397G	possibly damaging	Het
Krtap29-1	C	T	11: 99,869,024 (GRCm39)	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,473,564 (GRCm39)		probably null	Het
Marchf4	T	G	1: 72,486,379 (GRCm39)	Q266H	probably damaging	Het
Med23	A	G	10: 24,781,863 (GRCm39)	T1056A	probably benign	Het
Megf11	T	C	9: 64,613,914 (GRCm39)	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,583,701 (GRCm39)	L85I	probably benign	Het
Nlgn2	G	T	11: 69,718,711 (GRCm39)	Q290K	probably damaging	Het
Nox4	A	T	7: 86,972,962 (GRCm39)	E323V	probably damaging	Het
Nup93	T	C	8: 95,013,247 (GRCm39)		probably null	Het
Or10d5b	T	A	9: 39,886,117 (GRCm39)	M1L	unknown	Het
Or14a257	C	T	7: 86,138,776 (GRCm39)		probably null	Het
Or51e1	C	T	7: 102,358,745 (GRCm39)	T93I	probably benign	Het
Otop3	T	C	11: 115,230,474 (GRCm39)	L117P	probably damaging	Het
Pde6c	C	A	19: 38,129,869 (GRCm39)	Q260K	probably damaging	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Qser1	A	T	2: 104,617,322 (GRCm39)	Y1163*	probably null	Het
Rbm12	A	T	2: 155,940,137 (GRCm39)	I45N	unknown	Het
Rictor	T	A	15: 6,798,750 (GRCm39)	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325 (GRCm38)	S83*	probably null	Het
Sel1l3	C	T	5: 53,280,504 (GRCm39)		probably null	Het
Setd2	T	C	9: 110,396,908 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,143,319 (GRCm39)	T759A	probably benign	Het
Spon2	T	A	5: 33,374,800 (GRCm39)	E2V	probably benign	Het
Tdrd1	T	C	19: 56,826,140 (GRCm39)	S144P	probably damaging	Het
Tex15	A	C	8: 34,065,148 (GRCm39)	Y1526S	probably damaging	Het
Tex55	A	G	16: 38,648,225 (GRCm39)	Y295H	probably benign	Het
Tnfrsf21	T	C	17: 43,348,807 (GRCm39)	S140P	probably benign	Het
Trav6-2	T	A	14: 52,904,899 (GRCm39)	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,078,295 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,565,171 (GRCm39)	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,214,899 (GRCm39)	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333 (GRCm39)	S211T	probably benign	Het
Zcchc4	T	C	5: 52,965,635 (GRCm39)	I313T	possibly damaging	Het
Zfp106	C	T	2: 120,343,215 (GRCm39)	R1811K	probably benign	Het
Zfp599	G	T	9: 22,161,188 (GRCm39)	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,043,452 (GRCm39)	M108K	probably damaging	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
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'- GGCAGTGATTATGAATGTCATCAAG -3'

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

Posted On

2019-10-24