Mutagenetix > Incidental Mutation

Incidental Mutation 'R4112:Aamp'

314437

Institutional Source

Beutler Lab

Gene Symbol

Aamp

Ensembl Gene

ENSMUSG00000006299

Gene Name

angio-associated migratory protein

Synonyms

Aamp-rs

MMRRC Submission

040989-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R4112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74318999-74323897 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 74320386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006462] [ENSMUST00000027370] [ENSMUST00000077985] [ENSMUST00000087226] [ENSMUST00000113805] [ENSMUST00000190008] [ENSMUST00000187046] [ENSMUST00000178235]

AlphaFold

J3QN89

Predicted Effect

probably benign
Transcript: ENSMUST00000006462

SMART Domains

Protein: ENSMUSP00000006462
Gene: ENSMUSG00000006299

Domain	Start	End	E-Value	Type
low complexity region	34	42	N/A	INTRINSIC
low complexity region	46	64	N/A	INTRINSIC
WD40	81	121	2.76e-2	SMART
WD40	124	163	4.83e-7	SMART
WD40	166	203	7.96e0	SMART
WD40	205	244	2.51e-5	SMART
WD40	247	289	2.38e-6	SMART
WD40	292	346	2.47e1	SMART
WD40	349	387	2.61e-3	SMART
WD40	390	429	1.75e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000027370

SMART Domains

Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	4	79	1e-24	BLAST
Lactamase_B	129	291	1.05e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077985

SMART Domains

Protein: ENSMUSP00000077135
Gene: ENSMUSG00000064272

Domain	Start	End	E-Value	Type
Pfam:7tm_1	30	264	7.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087226

SMART Domains

Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179

Domain	Start	End	E-Value	Type
low complexity region	43	61	N/A	INTRINSIC
Pfam:DUF4748	71	121	2.9e-23	PFAM
Lactamase_B	168	330	1.05e-31	SMART
Pfam:HAGH_C	331	421	6.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113805

SMART Domains

Protein: ENSMUSP00000109436
Gene: ENSMUSG00000026179

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	4	79	4e-28	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186833

Predicted Effect

probably benign
Transcript: ENSMUST00000190008

SMART Domains

Protein: ENSMUSP00000140427
Gene: ENSMUSG00000006299

Domain	Start	End	E-Value	Type
low complexity region	17	34	N/A	INTRINSIC
low complexity region	40	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187046

SMART Domains

Protein: ENSMUSP00000139411
Gene: ENSMUSG00000006299

Domain	Start	End	E-Value	Type
WD40	20	60	1.7e-4	SMART
WD40	63	102	3e-9	SMART
WD40	120	160	1.7e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178235

SMART Domains

Protein: ENSMUSP00000136644
Gene: ENSMUSG00000006299

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC
low complexity region	47	65	N/A	INTRINSIC
WD40	82	122	2.76e-2	SMART
WD40	125	164	4.83e-7	SMART
WD40	167	204	7.96e0	SMART
WD40	206	245	2.51e-5	SMART
WD40	248	290	2.38e-6	SMART
WD40	293	347	2.47e1	SMART
WD40	350	388	2.61e-3	SMART
WD40	391	430	1.75e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.3%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Abcb4	A	G	5: 8,986,783 (GRCm39)		probably null	Het
Adam6b	T	A	12: 113,453,256 (GRCm39)	F24L	possibly damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Angpt2	T	A	8: 18,749,139 (GRCm39)	Q326L	probably damaging	Het
Armc9	T	A	1: 86,116,661 (GRCm39)	I327N	possibly damaging	Het
Bace2	A	G	16: 97,237,856 (GRCm39)	T436A	probably benign	Het
Ccdc162	T	A	10: 41,532,324 (GRCm39)	E450V	possibly damaging	Het
Ccdc7b	G	T	8: 129,811,708 (GRCm39)		probably benign	Het
Cdh17	T	C	4: 11,814,628 (GRCm39)	S728P	probably damaging	Het
Chia1	T	C	3: 106,035,844 (GRCm39)	L168P	probably damaging	Het
Cnot1	A	C	8: 96,500,246 (GRCm39)	L111V	probably damaging	Het
Col14a1	A	T	15: 55,226,955 (GRCm39)	N235I	unknown	Het
Col2a1	A	C	15: 97,881,582 (GRCm39)	L787R	probably benign	Het
Cyp3a25	A	T	5: 145,939,841 (GRCm39)	D55E	probably benign	Het
Dennd6a	A	T	14: 26,349,673 (GRCm39)		probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Etfbkmt	T	C	6: 149,046,089 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,098 (GRCm39)	Y23H	probably damaging	Het
Gemin4	T	A	11: 76,103,645 (GRCm39)	E372V	probably damaging	Het
Glyr1	T	C	16: 4,836,350 (GRCm39)	K500E	possibly damaging	Het
Gm10271	A	T	10: 116,803,943 (GRCm39)		probably benign	Het
Gm20775	A	T	Y: 10,641,878 (GRCm39)		noncoding transcript	Het
Gm5578	A	G	6: 112,583,466 (GRCm39)		noncoding transcript	Het
Gxylt2	A	G	6: 100,760,167 (GRCm39)	N234S	probably damaging	Het
Kcna6	G	C	6: 126,716,737 (GRCm39)	R51G	probably damaging	Het
Klf17	A	G	4: 117,617,898 (GRCm39)	V153A	possibly damaging	Het
L3mbtl2	T	C	15: 81,566,170 (GRCm39)	V331A	possibly damaging	Het
Med1	A	T	11: 98,070,913 (GRCm39)	V110E	probably damaging	Het
Nsmaf	A	C	4: 6,417,188 (GRCm39)	Y535*	probably null	Het
Pcdh10	G	A	3: 45,336,055 (GRCm39)	V790M	probably damaging	Het
Phlpp1	A	G	1: 106,292,068 (GRCm39)	T976A	probably damaging	Het
Prelid3a	T	C	18: 67,605,967 (GRCm39)	Y25H	probably damaging	Het
Ptprk	T	A	10: 28,351,284 (GRCm39)		probably null	Het
Rbm5	A	T	9: 107,642,796 (GRCm39)	D79E	probably damaging	Het
Rhox3f	G	T	X: 36,763,672 (GRCm39)	E140*	probably null	Het
Rnd3	T	A	2: 51,038,242 (GRCm39)	T78S	possibly damaging	Het
Scart2	G	T	7: 139,878,281 (GRCm39)	G1003*	probably null	Het
Sgca	T	C	11: 94,863,396 (GRCm39)	T27A	possibly damaging	Het
Slc10a2	C	T	8: 5,155,135 (GRCm39)	D17N	probably benign	Het
Snap23	C	T	2: 120,414,856 (GRCm39)		probably benign	Het
Sptb	T	A	12: 76,644,553 (GRCm39)	T2098S	probably damaging	Het
Src	T	A	2: 157,304,946 (GRCm39)	L165H	probably damaging	Het
Srr	G	T	11: 74,803,898 (GRCm39)	Q20K	probably benign	Het
Stt3b	A	T	9: 115,095,206 (GRCm39)	F275Y	probably damaging	Het
Sucnr1	C	G	3: 59,994,215 (GRCm39)	R248G	probably damaging	Het
Thsd7b	A	T	1: 130,044,356 (GRCm39)	D1112V	probably benign	Het
Tmem80	A	G	7: 140,913,692 (GRCm39)		probably benign	Het
Top2a	C	A	11: 98,913,786 (GRCm39)	K18N	probably damaging	Het
Ttc24	T	A	3: 87,981,946 (GRCm39)	D40V	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zfp3	T	A	11: 70,662,333 (GRCm39)	S97R	probably benign	Het

Other mutations in Aamp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Aamp	APN	1	74,320,595 (GRCm39)	unclassified	probably benign
IGL02476:Aamp	APN	1	74,320,683 (GRCm39)	unclassified	probably benign
R0960:Aamp	UTSW	1	74,320,304 (GRCm39)	missense	possibly damaging	0.77
R1590:Aamp	UTSW	1	74,322,370 (GRCm39)	missense	probably damaging	1.00
R2138:Aamp	UTSW	1	74,323,122 (GRCm39)	missense	probably benign	0.00
R4223:Aamp	UTSW	1	74,320,285 (GRCm39)	missense	probably damaging	0.98
R5049:Aamp	UTSW	1	74,321,698 (GRCm39)	missense	probably damaging	1.00
R5283:Aamp	UTSW	1	74,323,165 (GRCm39)	missense	possibly damaging	0.49
R6353:Aamp	UTSW	1	74,319,987 (GRCm39)	missense	probably benign	0.37
R6526:Aamp	UTSW	1	74,323,331 (GRCm39)	critical splice donor site	probably null
R6683:Aamp	UTSW	1	74,321,604 (GRCm39)	missense	possibly damaging	0.76
R6884:Aamp	UTSW	1	74,323,407 (GRCm39)	unclassified	probably benign
R7141:Aamp	UTSW	1	74,323,270 (GRCm39)	splice site	probably null
R9139:Aamp	UTSW	1	74,320,705 (GRCm39)	missense	possibly damaging	0.56
R9596:Aamp	UTSW	1	74,320,262 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCCCCTAAGTAGGAATTAAGCC -3'
(R):5'- AGGTCTGTGAGCCTCTTTTC -3'

Sequencing Primer
(F):5'- GTAGGAATTAAGCCCCAGACATC -3'
(R):5'- TGTTCAGACCTGAGACAGTCG -3'

Posted On

2015-05-14