Mutagenetix > Incidental Mutation

Incidental Mutation 'R9217:Amigo1'

699235

Institutional Source

Beutler Lab

Gene Symbol

Amigo1

Ensembl Gene

ENSMUSG00000050947

Gene Name

adhesion molecule with Ig like domain 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108093651-108099602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108095944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 481 (V481D)

Ref Sequence

ENSEMBL: ENSMUSP00000061244 (fasta)

Gene Model

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

AlphaFold

Q80ZD8

PDB Structure

CRYSTAL STRUCTURE OF NEURONAL LEUCINE RICH REPEAT PROTEIN AMIGO-1 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000050909
AA Change: V481D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061244
Gene: ENSMUSG00000050947
AA Change: V481D

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: V481D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102267
Gene: ENSMUSG00000050947
AA Change: V481D

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 benign
Transcript: ENSMUST00000106659

SMART Domains

Protein: ENSMUSP00000102270
Gene: ENSMUSG00000050947

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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	C	6: 92,808,967 (GRCm39)	V98A	unknown	Het
Abca15	A	T	7: 119,987,439 (GRCm39)	M1242L	probably benign	Het
Abcb9	G	A	5: 124,214,090 (GRCm39)	R576C	possibly damaging	Het
Abl2	A	G	1: 156,452,902 (GRCm39)	S146G	probably damaging	Het
Aga	G	A	8: 53,966,627 (GRCm39)	G60S	probably damaging	Het
Ano5	C	A	7: 51,243,415 (GRCm39)	P846Q	probably damaging	Het
Ccdc62	C	A	5: 124,092,470 (GRCm39)	T485K	probably benign	Het
Cd177	A	T	7: 24,445,550 (GRCm39)	I631K	possibly damaging	Het
Chil6	T	A	3: 106,313,411 (GRCm39)		probably benign	Het
Clip1	A	G	5: 123,717,441 (GRCm39)	S1283P	probably damaging	Het
Cpt1a	G	A	19: 3,425,111 (GRCm39)	V493I	probably benign	Het
Dcbld1	T	A	10: 52,138,028 (GRCm39)	D97E	probably benign	Het
Decr1	G	A	4: 15,930,969 (GRCm39)	P121L	probably damaging	Het
Ehmt1	A	T	2: 24,729,578 (GRCm39)	L661Q	probably benign	Het
Eif2d	A	G	1: 131,085,972 (GRCm39)	M156V	possibly damaging	Het
Ermn	A	T	2: 57,938,010 (GRCm39)	I201K	probably damaging	Het
Etfbkmt	T	C	6: 149,045,663 (GRCm39)	C6R	probably benign	Het
Evx2	A	T	2: 74,488,109 (GRCm39)		probably null	Het
Fam222a	T	C	5: 114,748,905 (GRCm39)	S34P	probably benign	Het
Fmo6	A	T	1: 162,748,046 (GRCm39)	D339E	probably benign	Het
Fubp1	T	C	3: 151,923,873 (GRCm39)	S142P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gnb1	A	T	4: 155,625,033 (GRCm39)	Q75L	probably damaging	Het
Gucy2e	C	T	11: 69,126,778 (GRCm39)	A232T	possibly damaging	Het
Haspin	A	T	11: 73,026,936 (GRCm39)	C718S	probably benign	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Jph1	T	A	1: 17,167,632 (GRCm39)	Q66L	probably benign	Het
Kank1	G	T	19: 25,386,944 (GRCm39)	D206Y	possibly damaging	Het
Klf14	T	C	6: 30,935,470 (GRCm39)	T55A	probably benign	Het
Lclat1	T	C	17: 73,494,879 (GRCm39)	M125T	probably damaging	Het
Lgr5	T	A	10: 115,423,349 (GRCm39)	Q17L	probably benign	Het
Lrmda	A	G	14: 22,648,361 (GRCm39)	I64V	unknown	Het
Lrrc15	A	G	16: 30,092,415 (GRCm39)	L308P	probably damaging	Het
Lyst	C	A	13: 13,871,245 (GRCm39)	Q2661K	probably benign	Het
Map3k21	T	A	8: 126,638,027 (GRCm39)	D204E	possibly damaging	Het
Msln	T	C	17: 25,970,125 (GRCm39)	I277V	probably benign	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nup153	G	A	13: 46,835,138 (GRCm39)	T1389M	probably damaging	Het
Or8c10	A	G	9: 38,279,268 (GRCm39)	Y132C	probably damaging	Het
Plcd1	T	C	9: 118,901,723 (GRCm39)		probably null	Het
Plce1	C	T	19: 38,748,551 (GRCm39)	R1761C	probably damaging	Het
Prrc2b	T	C	2: 32,103,414 (GRCm39)	L964P	probably damaging	Het
Prss43	T	C	9: 110,656,564 (GRCm39)	S84P	possibly damaging	Het
Rffl	T	C	11: 82,703,633 (GRCm39)	T97A	possibly damaging	Het
Riok2	G	C	17: 17,598,057 (GRCm39)	G48A	possibly damaging	Het
Sec24a	A	G	11: 51,617,331 (GRCm39)	M488T	probably benign	Het
Setdb2	C	T	14: 59,646,881 (GRCm39)	D545N	possibly damaging	Het
Slc39a4	T	A	15: 76,498,126 (GRCm39)	H400L	possibly damaging	Het
St7	T	A	6: 17,846,271 (GRCm39)	F175I	probably damaging	Het
Syne1	T	A	10: 5,299,324 (GRCm39)	D977V	probably damaging	Het
Tenm4	C	T	7: 96,534,646 (GRCm39)	T1801I	probably damaging	Het
Terf1	C	T	1: 15,883,295 (GRCm39)	T136I	probably damaging	Het
Tnnt1	T	C	7: 4,513,381 (GRCm39)	S42G	probably benign	Het
Trappc8	A	G	18: 21,000,822 (GRCm39)	V287A	probably benign	Het
Ttc3	T	A	16: 94,230,467 (GRCm39)	I870K	possibly damaging	Het
Ttn	A	T	2: 76,574,389 (GRCm39)	N25501K	possibly damaging	Het
Unc13c	A	T	9: 73,485,715 (GRCm39)	W1662R	probably damaging	Het
Wdr47	T	A	3: 108,525,890 (GRCm39)	C138S	probably damaging	Het
Zfp458	A	G	13: 67,408,298 (GRCm39)	S6P	probably damaging	Het
Zfp668	A	C	7: 127,465,804 (GRCm39)	L460*	probably null	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
R5218:Amigo1	UTSW	3	108,095,086 (GRCm39)	splice site	probably null
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
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'- CACCAAGGAGATAGCCTCAG -3'
(R):5'- GTGAAACTCGCAGCATCCAC -3'

Sequencing Primer
(F):5'- AGCTCTTCTATGCTCAGTACCACAC -3'
(R):5'- ACTGGGGTCTTGCCTCC -3'

Posted On

2022-02-07