Mutagenetix > Incidental Mutation

Incidental Mutation 'R9215:Amigo3'

699137

Institutional Source

Beutler Lab

Gene Symbol

Amigo3

Ensembl Gene

ENSMUSG00000032593

Gene Name

adhesion molecule with Ig like domain 3

Synonyms

E430002N15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107930358-107932900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107931638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 354 (A354T)

Ref Sequence

ENSEMBL: ENSMUSP00000082137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047746] [ENSMUST00000047947] [ENSMUST00000085060] [ENSMUST00000112295] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000162355] [ENSMUST00000162753] [ENSMUST00000178267]

AlphaFold

Q8C2S7

Predicted Effect

probably benign
Transcript: ENSMUST00000047746

SMART Domains

Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1047	1067	N/A	INTRINSIC
low complexity region	1242	1251	N/A	INTRINSIC
RING	1260	1297	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047947

SMART Domains

Protein: ENSMUSP00000036898
Gene: ENSMUSG00000070284

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	2	234	8e-48	PFAM
Pfam:NTP_transf_3	3	202	6.6e-12	PFAM
Pfam:Hexapep	259	294	1.8e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085060
AA Change: A354T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082137
Gene: ENSMUSG00000032593
AA Change: A354T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	33	65	2.55e-2	SMART
LRR	65	83	6.97e1	SMART
LRR_TYP	84	107	1.56e-2	SMART
LRR	109	131	2.84e1	SMART
LRR	132	155	7.05e-1	SMART
LRR	156	176	3.98e1	SMART
LRR	182	206	5.56e0	SMART
Blast:LRRCT	219	274	8e-23	BLAST
IG	285	372	1.59e-6	SMART
transmembrane domain	383	405	N/A	INTRINSIC
low complexity region	407	422	N/A	INTRINSIC
low complexity region	492	504	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112295

SMART Domains

Protein: ENSMUSP00000107914
Gene: ENSMUSG00000070284

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	2	235	2.1e-51	PFAM
Pfam:NTP_transf_3	3	199	1.1e-11	PFAM
Pfam:Hexapep	259	294	9.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159306

SMART Domains

Protein: ENSMUSP00000125695
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
coiled coil region	172	192	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160249

SMART Domains

Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC
low complexity region	1236	1245	N/A	INTRINSIC
RING	1254	1291	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160649

SMART Domains

Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162355

SMART Domains

Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1047	1067	N/A	INTRINSIC
low complexity region	1242	1251	N/A	INTRINSIC
RING	1260	1297	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162753

Predicted Effect

probably benign
Transcript: ENSMUST00000178267

SMART Domains

Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC
low complexity region	1236	1245	N/A	INTRINSIC
RING	1254	1291	5.27e-4	SMART

Meta Mutation Damage Score

0.8659

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	A	G	7: 144,149,342 (GRCm39)	S840P	probably damaging	Het
Arap1	A	G	7: 101,049,214 (GRCm39)	Q923R	probably benign	Het
Blk	T	C	14: 63,610,999 (GRCm39)	M448V	probably damaging	Het
Calhm2	C	A	19: 47,121,305 (GRCm39)	R288L	possibly damaging	Het
Card11	A	T	5: 140,866,154 (GRCm39)	M913K	possibly damaging	Het
Carf	A	C	1: 60,189,804 (GRCm39)	E676D	possibly damaging	Het
Ccn5	T	A	2: 163,670,966 (GRCm39)	C158S	probably damaging	Het
Ccr2	A	G	9: 123,906,023 (GRCm39)	D101G	probably damaging	Het
Ckap2l	T	C	2: 129,123,826 (GRCm39)	R532G	possibly damaging	Het
Clec1a	T	C	6: 129,412,134 (GRCm39)	T112A	possibly damaging	Het
Clint1	T	C	11: 45,774,578 (GRCm39)	V28A	probably damaging	Het
Col13a1	C	A	10: 61,685,990 (GRCm39)		probably null	Het
Cryz	G	T	3: 154,324,446 (GRCm39)	V216F	probably benign	Het
Cyp1a1	G	A	9: 57,609,456 (GRCm39)	V386I	probably benign	Het
Cyp2c54	G	A	19: 40,035,950 (GRCm39)	T320I	possibly damaging	Het
Dock7	G	C	4: 98,859,088 (GRCm39)	N1431K	unknown	Het
Fam110c	G	T	12: 31,123,863 (GRCm39)		probably benign	Het
Fbn2	A	T	18: 58,209,747 (GRCm39)	C1045S	probably damaging	Het
Fbxo30	G	A	10: 11,167,243 (GRCm39)	R655H	probably damaging	Het
Fhip1b	A	G	7: 105,034,296 (GRCm39)	L445P	possibly damaging	Het
Gbp2	T	C	3: 142,338,036 (GRCm39)		probably null	Het
Hmgcll1	A	G	9: 75,982,083 (GRCm39)	D176G	probably benign	Het
Inafm1	A	T	7: 16,007,055 (GRCm39)	I54N	probably damaging	Het
Ipo9	C	G	1: 135,347,033 (GRCm39)	M152I	probably benign	Het
Khdrbs3	C	T	15: 68,964,798 (GRCm39)	T333M	probably damaging	Het
Lefty2	A	G	1: 180,725,145 (GRCm39)	T292A	probably benign	Het
Lgr5	T	C	10: 115,311,085 (GRCm39)	E237G	probably damaging	Het
Lrig2	T	A	3: 104,398,324 (GRCm39)	E268D	probably benign	Het
Mbtd1	T	A	11: 93,834,628 (GRCm39)	L602Q	possibly damaging	Het
Mtbp	T	C	15: 55,484,035 (GRCm39)	V828A	possibly damaging	Het
Ncapd3	C	A	9: 26,975,386 (GRCm39)	Q812K	possibly damaging	Het
Nlrx1	T	C	9: 44,165,325 (GRCm39)	K857R	probably benign	Het
Or2b28	C	T	13: 21,532,004 (GRCm39)	A302V	probably damaging	Het
Or4d6	A	T	19: 12,086,016 (GRCm39)	M72K	probably damaging	Het
Or4k1	T	C	14: 50,377,829 (GRCm39)	Y89C	probably benign	Het
Or8b1c	C	T	9: 38,384,694 (GRCm39)	S217F	probably damaging	Het
P4ha2	T	C	11: 54,017,226 (GRCm39)	F456L	probably benign	Het
Pakap	T	A	4: 57,709,595 (GRCm39)	V180E	probably damaging	Het
Pard3b	A	G	1: 62,203,344 (GRCm39)	D424G	probably damaging	Het
Pecam1	A	G	11: 106,579,797 (GRCm39)	S422P	probably damaging	Het
Pias2	T	A	18: 77,216,677 (GRCm39)	V296E	probably damaging	Het
Plekha5	T	A	6: 140,501,733 (GRCm39)	S640R	possibly damaging	Het
Prdx2	A	G	8: 85,697,932 (GRCm39)	K92E	possibly damaging	Het
Prl7c1	C	T	13: 27,960,204 (GRCm39)	E113K	probably benign	Het
Pxylp1	A	T	9: 96,707,111 (GRCm39)	V357D	possibly damaging	Het
Rbm12b2	T	C	4: 12,095,471 (GRCm39)	F777L	probably damaging	Het
Rbm4b	G	T	19: 4,812,268 (GRCm39)	V226F	possibly damaging	Het
Rel	T	C	11: 23,698,870 (GRCm39)	D139G	probably benign	Het
Rnf214	C	T	9: 45,816,129 (GRCm39)	D28N	probably benign	Het
Slc26a5	A	G	5: 22,042,285 (GRCm39)	S224P	possibly damaging	Het
Slc39a6	C	T	18: 24,732,323 (GRCm39)	A322T	probably benign	Het
Slc47a1	T	C	11: 61,262,647 (GRCm39)	I81V	probably benign	Het
Smad5	T	A	13: 56,880,815 (GRCm39)	C310S	probably damaging	Het
Sparcl1	T	C	5: 104,240,701 (GRCm39)	D241G	probably benign	Het
Spata16	C	T	3: 26,721,994 (GRCm39)	Q172*	probably null	Het
Spata31d1d	G	T	13: 59,875,823 (GRCm39)	Q571K	probably benign	Het
Speer1e	A	T	5: 11,236,449 (GRCm39)	I161F	possibly damaging	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stt3b	A	T	9: 115,085,223 (GRCm39)	F381I	probably damaging	Het
Tjp1	T	C	7: 64,962,595 (GRCm39)	Y1194C	probably benign	Het
Tmem132b	T	C	5: 125,864,180 (GRCm39)	I762T	probably damaging	Het
Tnxb	A	G	17: 34,891,564 (GRCm39)	T636A	unknown	Het
Trat1	T	A	16: 48,574,637 (GRCm39)	R54*	probably null	Het
Tubb4a	A	T	17: 57,387,769 (GRCm39)	V419E	probably damaging	Het
Txn2	A	T	15: 77,803,965 (GRCm39)	W84R	unknown	Het
Uggt2	A	G	14: 119,279,006 (GRCm39)	Y834H	probably damaging	Het
Upp2	T	C	2: 58,670,065 (GRCm39)	L257P	probably damaging	Het
Vmn2r67	C	T	7: 84,802,008 (GRCm39)	V98I	probably benign	Het
Zfp354c	T	C	11: 50,706,666 (GRCm39)	I136M	probably benign	Het

Other mutations in Amigo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Amigo3	APN	9	107,930,601 (GRCm39)	missense	possibly damaging	0.93
R0047:Amigo3	UTSW	9	107,931,857 (GRCm39)	missense	probably benign
R0047:Amigo3	UTSW	9	107,931,857 (GRCm39)	missense	probably benign
R1079:Amigo3	UTSW	9	107,931,051 (GRCm39)	missense	probably benign	0.00
R1585:Amigo3	UTSW	9	107,931,231 (GRCm39)	missense	probably damaging	1.00
R1907:Amigo3	UTSW	9	107,930,835 (GRCm39)	missense	probably benign	0.10
R2899:Amigo3	UTSW	9	107,931,353 (GRCm39)	missense	probably benign	0.42
R4770:Amigo3	UTSW	9	107,930,734 (GRCm39)	missense	probably damaging	0.97
R5188:Amigo3	UTSW	9	107,931,882 (GRCm39)	missense	probably damaging	0.99
R6137:Amigo3	UTSW	9	107,930,927 (GRCm39)	missense	probably damaging	1.00
R6781:Amigo3	UTSW	9	107,931,162 (GRCm39)	missense	probably damaging	1.00
R7326:Amigo3	UTSW	9	107,931,265 (GRCm39)	missense	probably benign	0.00
R7773:Amigo3	UTSW	9	107,931,867 (GRCm39)	missense	probably benign	0.01
R8672:Amigo3	UTSW	9	107,931,375 (GRCm39)	missense	possibly damaging	0.95
R9273:Amigo3	UTSW	9	107,932,020 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCTGCAACACCAGTGTGC -3'
(R):5'- TAAGCATGGAGGACTGTGCG -3'

Sequencing Primer
(F):5'- AACACCAGTGTGCCTGCC -3'
(R):5'- TCAGCTCCTGGAGTGGACTG -3'

Posted On

2022-02-07