Mutagenetix > Incidental Mutation

Incidental Mutation 'R6137:Amigo3'

488407

Institutional Source

Beutler Lab

Gene Symbol

Amigo3

Ensembl Gene

ENSMUSG00000032593

Gene Name

adhesion molecule with Ig like domain 3

Synonyms

E430002N15Rik

MMRRC Submission

044284-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108053159-108055701 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108053728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 117 (S117T)

Ref Sequence

ENSEMBL: ENSMUSP00000082137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035214] [ENSMUST00000047746] [ENSMUST00000047947] [ENSMUST00000085060] [ENSMUST00000112295] [ENSMUST00000162753] [ENSMUST00000160649] [ENSMUST00000162355] [ENSMUST00000178267] [ENSMUST00000160249]

AlphaFold

Q8C2S7

Predicted Effect

probably benign
Transcript: ENSMUST00000035214

SMART Domains

Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594

Domain	Start	End	E-Value	Type
low complexity region	114	129	N/A	INTRINSIC
Pfam:IPK	207	426	2.2e-67	PFAM

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: S117T

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

SMART Domains

Protein: ENSMUSP00000082137
Gene: ENSMUSG00000032593
AA Change: S117T

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

noncoding transcript
Transcript: ENSMUST00000137284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159136

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

noncoding transcript
Transcript: ENSMUST00000159523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160841

Predicted Effect

probably benign
Transcript: ENSMUST00000162753

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: 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

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

Meta Mutation Damage Score

0.5380

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092M07Rik	A	T	19: 8,740,784 (GRCm38)	D6V	probably damaging	Het
2310057M21Rik	G	T	7: 131,357,613 (GRCm38)	H165Q	probably damaging	Het
Akap13	T	A	7: 75,677,416 (GRCm38)	F721Y	probably damaging	Het
Akap6	A	T	12: 53,140,354 (GRCm38)	D1517V	probably damaging	Het
Atf7ip2	T	A	16: 10,201,411 (GRCm38)	N34K	probably damaging	Het
Cacnb1	A	C	11: 98,005,782 (GRCm38)	V351G	probably damaging	Het
Casp9	T	A	4: 141,805,349 (GRCm38)		probably null	Het
Ccdc51	C	T	9: 109,089,415 (GRCm38)	T24I	probably benign	Het
Cdh23	T	A	10: 60,434,512 (GRCm38)	Y618F	probably damaging	Het
Chd1	T	A	17: 15,758,688 (GRCm38)	W1271R	probably damaging	Het
Dars	T	C	1: 128,368,439 (GRCm38)	T386A	probably benign	Het
Dchs1	T	A	7: 105,765,106 (GRCm38)	D834V	probably damaging	Het
Dgkd	T	A	1: 87,936,381 (GRCm38)	V933E	possibly damaging	Het
Dnah17	A	G	11: 118,025,654 (GRCm38)	F4203S	probably damaging	Het
Fancm	T	C	12: 65,130,382 (GRCm38)	L2000P	probably damaging	Het
Fbxo11	A	T	17: 88,008,669 (GRCm38)	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,276,222 (GRCm38)	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,559,206 (GRCm38)	S237P	probably damaging	Het
Frem3	T	C	8: 80,615,047 (GRCm38)	I1323T	probably benign	Het
Grin2a	A	G	16: 9,653,449 (GRCm38)	F652L	probably benign	Het
Grin2b	T	A	6: 135,923,458 (GRCm38)	M142L	possibly damaging	Het
Helz	A	G	11: 107,619,060 (GRCm38)	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,859,295 (GRCm38)	Y69H	probably benign	Het
Il17ra	A	G	6: 120,475,582 (GRCm38)	N242S	probably benign	Het
Immp1l	G	C	2: 105,964,208 (GRCm38)	G117A	probably damaging	Het
Itm2c	T	C	1: 85,894,692 (GRCm38)	V10A	probably benign	Het
Kif1b	T	C	4: 149,238,426 (GRCm38)	K679E	possibly damaging	Het
Kng1	T	C	16: 23,074,645 (GRCm38)	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,166,153 (GRCm38)	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,598,793 (GRCm38)	F621S	probably damaging	Het
Lpl	T	A	8: 68,892,747 (GRCm38)	D134E	probably damaging	Het
Lypd3	T	C	7: 24,640,494 (GRCm38)	Y329H	probably benign	Het
Mettl13	T	C	1: 162,535,886 (GRCm38)	D225G	probably benign	Het
Myo7b	A	G	18: 31,999,974 (GRCm38)	F441L	probably damaging	Het
Nnt	T	A	13: 119,336,328 (GRCm38)	M699L	possibly damaging	Het
Nr1h3	A	T	2: 91,191,851 (GRCm38)	M144K	probably damaging	Het
Olfr1040	A	G	2: 86,145,969 (GRCm38)	V255A	probably benign	Het
Olfr1347	T	C	7: 6,488,845 (GRCm38)	T3A	probably benign	Het
Olfr325	A	T	11: 58,581,068 (GRCm38)	M75L	probably benign	Het
Pappa2	A	T	1: 158,871,543 (GRCm38)	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,238,888 (GRCm38)	I155V	probably benign	Het
Ptgs2	T	A	1: 150,100,993 (GRCm38)	N24K	probably benign	Het
Ralgds	A	T	2: 28,547,588 (GRCm38)	M514L	probably damaging	Het
Rbm47	G	C	5: 66,026,283 (GRCm38)	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,569,005 (GRCm38)	V254D	probably damaging	Het
Selenot	A	T	3: 58,585,284 (GRCm38)	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,850,851 (GRCm38)	R1037W	probably damaging	Het
Slc22a12	A	G	19: 6,542,724 (GRCm38)	V10A	probably benign	Het
Spem2	G	T	11: 69,816,696 (GRCm38)	S481*	probably null	Het
Styk1	C	T	6: 131,311,016 (GRCm38)	G128D	probably damaging	Het
Tmc6	A	T	11: 117,776,328 (GRCm38)	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,574,835 (GRCm38)		probably null	Het
Tnpo3	A	G	6: 29,555,268 (GRCm38)	V772A	probably benign	Het
Topaz1	T	C	9: 122,797,756 (GRCm38)	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,216,055 (GRCm38)	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262 (GRCm38)	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,849,016 (GRCm38)	I129T	probably benign	Het
Wwc2	A	T	8: 47,856,263 (GRCm38)	M828K	unknown	Het
Zfp236	A	T	18: 82,671,794 (GRCm38)	S187T	possibly damaging	Het

Other mutations in Amigo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Amigo3	APN	9	108,053,402 (GRCm38)	missense	possibly damaging	0.93
R0047:Amigo3	UTSW	9	108,054,658 (GRCm38)	missense	probably benign
R0047:Amigo3	UTSW	9	108,054,658 (GRCm38)	missense	probably benign
R1079:Amigo3	UTSW	9	108,053,852 (GRCm38)	missense	probably benign	0.00
R1585:Amigo3	UTSW	9	108,054,032 (GRCm38)	missense	probably damaging	1.00
R1907:Amigo3	UTSW	9	108,053,636 (GRCm38)	missense	probably benign	0.10
R2899:Amigo3	UTSW	9	108,054,154 (GRCm38)	missense	probably benign	0.42
R4770:Amigo3	UTSW	9	108,053,535 (GRCm38)	missense	probably damaging	0.97
R5188:Amigo3	UTSW	9	108,054,683 (GRCm38)	missense	probably damaging	0.99
R6781:Amigo3	UTSW	9	108,053,963 (GRCm38)	missense	probably damaging	1.00
R7326:Amigo3	UTSW	9	108,054,066 (GRCm38)	missense	probably benign	0.00
R7773:Amigo3	UTSW	9	108,054,668 (GRCm38)	missense	probably benign	0.01
R8672:Amigo3	UTSW	9	108,054,176 (GRCm38)	missense	possibly damaging	0.95
R9215:Amigo3	UTSW	9	108,054,439 (GRCm38)	missense	probably damaging	1.00
R9273:Amigo3	UTSW	9	108,054,821 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCACTGCTGCAGAACTC -3'
(R):5'- GTTTCAGCCAGTTGGAGGAG -3'

Sequencing Primer
(F):5'- CACTGCTGCAGAACTCGATTTGAG -3'
(R):5'- CAGACCGTGCAAGTGGTTG -3'

Posted On

2017-10-10