Mutagenetix > Incidental Mutation

Incidental Mutation 'R7773:Amigo3'

598720

Institutional Source

Beutler Lab

Gene Symbol

Amigo3

Ensembl Gene

ENSMUSG00000032593

Gene Name

adhesion molecule with Ig like domain 3

Synonyms

E430002N15Rik

MMRRC Submission

045829-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107930358-107932900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107931867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 430 (L430P)

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 benign
Transcript: ENSMUST00000085060
AA Change: L430P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000082137
Gene: ENSMUSG00000032593
AA Change: L430P

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

Coding Region Coverage

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

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,206,180 (GRCm39)	I336T	probably benign	Het
4930519P11Rik	T	C	2: 154,455,107 (GRCm39)	Y84C	unknown	Het
4930568D16Rik	C	T	2: 35,244,606 (GRCm39)	G249S	probably damaging	Het
AAdacl4fm3	A	T	4: 144,430,047 (GRCm39)	L314Q	probably damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Agbl1	T	A	7: 76,348,585 (GRCm39)	V894E	unknown	Het
Aoc1	A	G	6: 48,883,146 (GRCm39)	I341V	probably benign	Het
Bod1l	A	G	5: 41,990,055 (GRCm39)	S223P	probably benign	Het
Cacnb3	T	C	15: 98,537,819 (GRCm39)		probably null	Het
Ccdc63	G	T	5: 122,247,335 (GRCm39)	N503K	probably damaging	Het
Ccdc83	T	A	7: 89,879,120 (GRCm39)	I225F	probably damaging	Het
Cd200r1	A	G	16: 44,610,050 (GRCm39)	T90A	possibly damaging	Het
Cd8a	A	G	6: 71,350,799 (GRCm39)	N88S	probably benign	Het
Cep170	A	G	1: 176,567,642 (GRCm39)	V152A		Het
Chid1	T	C	7: 141,109,518 (GRCm39)	M123V	probably benign	Het
Cnnm4	T	C	1: 36,538,603 (GRCm39)	V595A	probably benign	Het
Coro7	A	G	16: 4,449,870 (GRCm39)	L630P	probably damaging	Het
Cpvl	A	G	6: 53,908,890 (GRCm39)		probably null	Het
Edem3	A	T	1: 151,687,347 (GRCm39)	K762*	probably null	Het
Elp6	T	A	9: 110,141,627 (GRCm39)		probably null	Het
Emilin3	A	T	2: 160,752,718 (GRCm39)	Y77*	probably null	Het
Fam234b	T	A	6: 135,220,912 (GRCm39)	I641N	probably benign	Het
Farsa	T	C	8: 85,590,781 (GRCm39)		probably null	Het
Foxf2	T	C	13: 31,811,182 (GRCm39)	S374P	probably benign	Het
Gm11596	A	T	11: 99,683,667 (GRCm39)	I151N	unknown	Het
Gm9817	C	T	13: 45,232,427 (GRCm39)	Q77*	probably null	Het
Gon4l	A	G	3: 88,803,102 (GRCm39)	K1238E	probably benign	Het
H13	A	G	2: 152,537,431 (GRCm39)	Y292C	probably damaging	Het
Hip1r	A	G	5: 124,139,504 (GRCm39)	N928S	probably benign	Het
Iqcf4	T	C	9: 106,445,812 (GRCm39)	N112D	probably benign	Het
Jak3	A	C	8: 72,131,686 (GRCm39)	T125P	probably benign	Het
Krt7	A	C	15: 101,311,913 (GRCm39)	K124Q	possibly damaging	Het
Ldc1	T	C	4: 130,114,169 (GRCm39)	N83D	probably damaging	Het
Lrrc66	G	A	5: 73,764,664 (GRCm39)	S793F	probably damaging	Het
Mycbp2	C	T	14: 103,485,840 (GRCm39)	V1074I	probably damaging	Het
Nckap5	T	C	1: 125,954,581 (GRCm39)	D657G	probably benign	Het
Nt5el	A	G	13: 105,218,793 (GRCm39)	I42M	probably damaging	Het
Or5b113	T	A	19: 13,342,598 (GRCm39)	V202E	probably benign	Het
Or8k21	T	C	2: 86,145,034 (GRCm39)	I199V	probably benign	Het
Osbpl7	A	G	11: 96,941,548 (GRCm39)	S24G	probably benign	Het
Pcm1	G	T	8: 41,762,610 (GRCm39)	E1385*	probably null	Het
Poc5	A	G	13: 96,547,143 (GRCm39)	T469A	probably damaging	Het
Ppp3ca	A	G	3: 136,596,222 (GRCm39)	T296A	probably benign	Het
Prl6a1	T	C	13: 27,502,125 (GRCm39)	I164T	probably damaging	Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882 (GRCm38)		probably null	Het
Rnf149	A	C	1: 39,604,299 (GRCm39)	M188R	possibly damaging	Het
Rpl10l	T	C	12: 66,331,041 (GRCm39)	I31V	probably benign	Het
Serinc5	T	C	13: 92,797,592 (GRCm39)	S32P	probably damaging	Het
Sirt1	T	A	10: 63,162,562 (GRCm39)	K137M	possibly damaging	Het
Smc4	A	G	3: 68,923,496 (GRCm39)	Y251C	probably damaging	Het
Sod3	A	C	5: 52,525,643 (GRCm39)	E114A	possibly damaging	Het
Tgfbr3	A	G	5: 107,288,368 (GRCm39)	V431A	probably benign	Het
Tlr4	T	C	4: 66,757,836 (GRCm39)	S210P	probably damaging	Het
Trub2	G	T	2: 29,676,520 (GRCm39)	T70N	probably benign	Het
Tsga10	A	T	1: 37,874,323 (GRCm39)	C159S	unknown	Het
Vmn1r15	A	T	6: 57,235,644 (GRCm39)	I171F	probably benign	Het
Vmn2r50	T	A	7: 9,771,562 (GRCm39)	H713L	possibly damaging	Het
Zcchc14	T	C	8: 122,378,514 (GRCm39)	S43G	unknown	Het
Zfp638	T	C	6: 83,956,196 (GRCm39)	I1601T	probably damaging	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
R8672:Amigo3	UTSW	9	107,931,375 (GRCm39)	missense	possibly damaging	0.95
R9215:Amigo3	UTSW	9	107,931,638 (GRCm39)	missense	probably damaging	1.00
R9273:Amigo3	UTSW	9	107,932,020 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTTGAGTACAATGTGAGTGTGC -3'
(R):5'- TGGAACTGGCTGATTCAGAGC -3'

Sequencing Primer
(F):5'- AGTGTGCAAAAGGCTCGCC -3'
(R):5'- TGATTCAGAGCCAGCCTTGAG -3'

Posted On

2019-11-26