Mutagenetix > Incidental Mutation

Incidental Mutation 'R5218:Amigo1'

403590

Institutional Source

Beutler Lab

Gene Symbol

Amigo1

Ensembl Gene

ENSMUSG00000050947

Gene Name

adhesion molecule with Ig like domain 1

Synonyms

MMRRC Submission

042791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108093651-108099602 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 108095086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050909] [ENSMUST00000106656] [ENSMUST00000106659]

AlphaFold

Q80ZD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000050909
AA Change: N195S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000061244
Gene: ENSMUSG00000050947
AA Change: N195S

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
LRRNT	33	65	4.45e-2	SMART
LRR_TYP	85	108	3.83e-2	SMART
LRR_TYP	109	132	8.94e-3	SMART
LRR	133	156	2.32e-1	SMART
LRR	157	180	6.57e-1	SMART
LRR	184	207	1.99e0	SMART
LRRCT	221	271	3.59e-3	SMART
IG	275	358	6.65e-9	SMART
low complexity region	380	392	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106656
AA Change: N195S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102267
Gene: ENSMUSG00000050947
AA Change: N195S

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
LRRNT	33	65	4.45e-2	SMART
LRR_TYP	85	108	3.83e-2	SMART
LRR_TYP	109	132	8.94e-3	SMART
LRR	133	156	2.32e-1	SMART
LRR	157	180	6.57e-1	SMART
LRR	184	207	1.99e0	SMART
LRRCT	221	271	3.59e-3	SMART
IG	275	358	6.65e-9	SMART
low complexity region	380	392	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106659
AA Change: N195S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102270
Gene: ENSMUSG00000050947
AA Change: N195S

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
LRRNT	33	65	4.45e-2	SMART
LRR_TYP	85	108	3.83e-2	SMART
LRR_TYP	109	132	8.94e-3	SMART
LRR	133	156	2.32e-1	SMART
LRR	157	180	6.57e-1	SMART
LRR	184	207	1.99e0	SMART
LRRCT	221	271	3.59e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000106661

SMART Domains

Protein: ENSMUSP00000102272
Gene: ENSMUSG00000050947

Domain	Start	End	E-Value	Type
low complexity region	2	49	N/A	INTRINSIC
low complexity region	75	87	N/A	INTRINSIC
low complexity region	141	155	N/A	INTRINSIC
LRRNT	167	199	4.45e-2	SMART
LRR_TYP	219	242	3.83e-2	SMART
LRR_TYP	243	266	8.94e-3	SMART
LRR	267	290	2.32e-1	SMART
LRR	291	314	6.57e-1	SMART
LRR	318	341	1.99e0	SMART
LRRCT	355	405	3.59e-3	SMART
IG	409	492	6.65e-9	SMART
low complexity region	514	526	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143109

Predicted Effect

probably null
Transcript: ENSMUST00000155782

Meta Mutation Damage Score

0.3554

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,629,628 (GRCm39)	N230K	possibly damaging	Het
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
Albfm1	A	G	5: 90,729,777 (GRCm39)	K400R	probably benign	Het
Arhgap30	A	T	1: 171,236,328 (GRCm39)	T901S	probably benign	Het
Arpp21	T	C	9: 111,972,499 (GRCm39)	D264G	probably damaging	Het
Ccbe1	C	T	18: 66,216,229 (GRCm39)	G165S	probably damaging	Het
Celsr1	T	C	15: 85,816,585 (GRCm39)	D1786G	probably damaging	Het
Cntn1	T	C	15: 92,237,430 (GRCm39)	L1008P	unknown	Het
Dclk2	T	A	3: 86,712,985 (GRCm39)	D489V	probably damaging	Het
Dip2b	T	A	15: 100,052,177 (GRCm39)	D259E	probably benign	Het
Disp3	T	C	4: 148,327,333 (GRCm39)	S1184G	possibly damaging	Het
Dync1li2	C	T	8: 105,169,179 (GRCm39)	W36*	probably null	Het
Ece2	A	T	16: 20,437,290 (GRCm39)	M211L	probably benign	Het
Edn3	C	T	2: 174,603,345 (GRCm39)	A31V	probably benign	Het
Enpp2	T	C	15: 54,750,982 (GRCm39)	Q266R	possibly damaging	Het
Fabp1	C	A	6: 71,176,944 (GRCm39)	Q12K	probably damaging	Het
Flt1	G	A	5: 147,618,738 (GRCm39)	T199M	probably damaging	Het
Galns	T	A	8: 123,325,328 (GRCm39)	I275F	probably damaging	Het
Gapvd1	T	C	2: 34,618,488 (GRCm39)	D295G	probably benign	Het
Gatb	A	G	3: 85,511,751 (GRCm39)	I169V	probably benign	Het
Gpd1	T	A	15: 99,618,011 (GRCm39)	I109N	probably damaging	Het
Gps2	T	C	11: 69,807,121 (GRCm39)		probably null	Het
Hsd17b12	T	C	2: 93,913,608 (GRCm39)	N99D	probably benign	Het
Itga3	A	T	11: 94,953,574 (GRCm39)	V256E	probably benign	Het
Kcnma1	T	A	14: 23,513,253 (GRCm39)	Y527F	probably damaging	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lrp1	C	A	10: 127,384,488 (GRCm39)	E3580D	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Medag	A	T	5: 149,345,719 (GRCm39)		probably benign	Het
Ncdn	C	A	4: 126,644,603 (GRCm39)	R73L	probably benign	Het
Nr4a1	T	C	15: 101,170,034 (GRCm39)	V339A	probably benign	Het
Ocln	G	T	13: 100,642,822 (GRCm39)	P420Q	probably damaging	Het
Or5ac24	A	T	16: 59,165,270 (GRCm39)	S265T	probably benign	Het
Pank4	C	T	4: 155,064,185 (GRCm39)	T681I	probably benign	Het
Pcdhb6	T	A	18: 37,467,388 (GRCm39)	V103E	possibly damaging	Het
Pcsk6	T	C	7: 65,675,036 (GRCm39)	F469S	probably benign	Het
Phrf1	A	G	7: 140,841,214 (GRCm39)	N1353S	possibly damaging	Het
Pou6f2	A	G	13: 18,326,586 (GRCm39)	I72T	probably damaging	Het
Ppig	T	C	2: 69,563,127 (GRCm39)		probably benign	Het
Ptprh	T	C	7: 4,600,919 (GRCm39)	S153G	probably benign	Het
Rab11b	T	C	17: 33,967,924 (GRCm39)	N91S	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Slc2a9	A	G	5: 38,610,524 (GRCm39)	S92P	probably damaging	Het
Slit3	G	A	11: 35,575,002 (GRCm39)		probably null	Het
Sox5	T	C	6: 143,906,616 (GRCm39)	I280V	possibly damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tdrd9	C	T	12: 112,029,909 (GRCm39)		probably benign	Het
Tmem273	T	A	14: 32,538,793 (GRCm39)		probably null	Het
Tmem74	A	T	15: 43,730,640 (GRCm39)	N134K	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	T	G	18: 63,812,538 (GRCm39)	K85N	probably benign	Het
Vmn2r77	T	A	7: 86,451,341 (GRCm39)	M409K	probably damaging	Het
Wipf1	T	C	2: 73,274,812 (GRCm39)	D53G	probably damaging	Het
Wnt10a	G	A	1: 74,832,754 (GRCm39)	V116I	probably benign	Het
Xpot	T	A	10: 121,455,043 (GRCm39)	D33V	probably damaging	Het
Znrf3	C	T	11: 5,231,519 (GRCm39)	V665M	possibly damaging	Het

Other mutations in Amigo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02093:Amigo1	APN	3	108,095,214 (GRCm39)	missense	probably benign
IGL02306:Amigo1	APN	3	108,095,302 (GRCm39)	missense	probably benign	0.29
R0675:Amigo1	UTSW	3	108,098,985 (GRCm39)	splice site	probably benign
R0748:Amigo1	UTSW	3	108,095,946 (GRCm39)	missense	probably damaging	0.98
R1613:Amigo1	UTSW	3	108,095,536 (GRCm39)	missense	probably benign	0.26
R1991:Amigo1	UTSW	3	108,094,644 (GRCm39)	missense	probably benign	0.01
R4116:Amigo1	UTSW	3	108,095,761 (GRCm39)	missense	probably damaging	0.99
R4378:Amigo1	UTSW	3	108,099,069 (GRCm39)	utr 3 prime	probably benign
R4916:Amigo1	UTSW	3	108,094,981 (GRCm39)	missense	probably damaging	1.00
R6074:Amigo1	UTSW	3	108,099,009 (GRCm39)	nonsense	probably null
R6971:Amigo1	UTSW	3	108,095,452 (GRCm39)	missense	probably benign	0.11
R7228:Amigo1	UTSW	3	108,094,546 (GRCm39)	missense	probably benign
R8012:Amigo1	UTSW	3	108,095,958 (GRCm39)	missense	probably damaging	1.00
R8119:Amigo1	UTSW	3	108,094,852 (GRCm39)	missense	probably damaging	1.00
R8498:Amigo1	UTSW	3	108,095,751 (GRCm39)	missense	probably benign	0.01
R8785:Amigo1	UTSW	3	108,094,666 (GRCm39)	missense	probably benign	0.01
R9217:Amigo1	UTSW	3	108,095,944 (GRCm39)	missense	probably damaging	1.00
R9667:Amigo1	UTSW	3	108,095,034 (GRCm39)	missense	probably benign
X0025:Amigo1	UTSW	3	108,095,435 (GRCm39)	missense	probably benign	0.00
X0063:Amigo1	UTSW	3	108,095,392 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TTCACACGCTGGATGAGTTCC -3'
(R):5'- TGCATGCAGTACAGGTCCTC -3'

Sequencing Primer
(F):5'- GATGAGTTCCTGTTCAGCGACC -3'
(R):5'- GTCCTCCTGGAAGTCCATCACAG -3'

Posted On

2016-07-22