Mutagenetix > Incidental Mutation

Incidental Mutation 'R6781:Amigo3'

531425

Institutional Source

Beutler Lab

Gene Symbol

Amigo3

Ensembl Gene

ENSMUSG00000032593

Gene Name

adhesion molecule with Ig like domain 3

Synonyms

E430002N15Rik

MMRRC Submission

044895-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6781 (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 107931162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 195 (L195P)

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: L195P

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

SMART Domains

Protein: ENSMUSP00000082137
Gene: ENSMUSG00000032593
AA Change: L195P

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

0.7680

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,593,380 (GRCm39)	I259N	possibly damaging	Het
Acot12	G	T	13: 91,932,531 (GRCm39)		probably null	Het
AI182371	G	T	2: 34,974,717 (GRCm39)		probably benign	Het
Aox4	A	T	1: 58,284,268 (GRCm39)	D556V	probably benign	Het
Arhgef40	A	C	14: 52,235,354 (GRCm39)		probably benign	Het
Asb15	T	C	6: 24,558,674 (GRCm39)	V63A	probably benign	Het
Bicd1	T	C	6: 149,414,664 (GRCm39)	I459T	possibly damaging	Het
Bub1	C	A	2: 127,649,777 (GRCm39)	G694W	probably damaging	Het
C4b	A	T	17: 34,961,928 (GRCm39)	I106N	probably damaging	Het
Clca4b	T	C	3: 144,628,562 (GRCm39)	I382V	probably benign	Het
Cntnap5a	A	C	1: 116,220,127 (GRCm39)	S646R	probably benign	Het
Cntnap5c	C	T	17: 58,445,648 (GRCm39)	Q563*	probably null	Het
Cpn1	A	G	19: 43,969,343 (GRCm39)	F107L	possibly damaging	Het
Csrnp3	T	A	2: 65,852,615 (GRCm39)	C336S	probably benign	Het
Defa3	T	A	8: 21,778,277 (GRCm39)	M87K	probably benign	Het
Dennd2b	T	C	7: 109,124,511 (GRCm39)	D1110G	possibly damaging	Het
Dmbt1	T	C	7: 130,648,291 (GRCm39)	F274L	probably benign	Het
Dnah8	TTA	TTATA	17: 30,984,698 (GRCm39)		probably null	Het
Dnase2b	T	C	3: 146,288,126 (GRCm39)	H323R	probably benign	Het
Fam83e	A	T	7: 45,371,571 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,158,958 (GRCm39)	N2269S	probably damaging	Het
Foxa1	A	T	12: 57,590,043 (GRCm39)	M59K	possibly damaging	Het
Fpr3	T	C	17: 18,190,978 (GRCm39)	V83A	probably benign	Het
Frmd6	A	G	12: 70,946,417 (GRCm39)	D615G	possibly damaging	Het
Gfra3	T	C	18: 34,844,375 (GRCm39)	K55R	possibly damaging	Het
Gm5414	A	T	15: 101,534,096 (GRCm39)	S296T	possibly damaging	Het
Gtf3c1	T	A	7: 125,258,369 (GRCm39)	K1234*	probably null	Het
Hltf	T	A	3: 20,152,330 (GRCm39)	Y609N	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ift74	A	G	4: 94,515,539 (GRCm39)	D152G	probably damaging	Het
Kcnk6	T	C	7: 28,924,480 (GRCm39)	Y308C	probably damaging	Het
Klhl29	A	G	12: 5,141,347 (GRCm39)	S546P	probably damaging	Het
Map7d1	AGGGCAGCC	AGGGCAGCCGGGCAGCC	4: 126,134,544 (GRCm39)		probably null	Het
Meis2	T	A	2: 115,879,636 (GRCm39)	H228L	probably benign	Het
Mfsd10	A	T	5: 34,791,853 (GRCm39)	M344K	possibly damaging	Het
Mrps33	T	C	6: 39,782,757 (GRCm39)		probably benign	Het
Or2a52	A	G	6: 43,144,322 (GRCm39)	E110G	probably damaging	Het
Or4p23	A	T	2: 88,577,174 (GRCm39)	N19K	probably benign	Het
Pik3cb	T	C	9: 98,923,045 (GRCm39)	T996A	possibly damaging	Het
Plekha7	A	G	7: 115,757,090 (GRCm39)		probably null	Het
Ppp1cb	A	G	5: 32,638,106 (GRCm39)	Y86C	probably damaging	Het
Sass6	T	G	3: 116,388,773 (GRCm39)		probably benign	Het
Slc6a15	A	T	10: 103,230,928 (GRCm39)	I218F	probably damaging	Het
Tcf23	C	T	5: 31,126,304 (GRCm39)	P61L	probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zc3h6	T	C	2: 128,857,341 (GRCm39)	F620S	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
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
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'- TGTTAAGGATGCTCCATACCC -3'
(R):5'- ACCAAGCATGTGTACTCGCG -3'

Sequencing Primer
(F):5'- TGTTAAGGATGCTCCATACCCATGAC -3'
(R):5'- TCGCGTTCAAAATCATGCAGG -3'

Posted On

2018-08-29