Mutagenetix > Incidental Mutation

Incidental Mutation 'R5049:Aamp'

394495

Institutional Source

Beutler Lab

Gene Symbol

Aamp

Ensembl Gene

ENSMUSG00000006299

Gene Name

angio-associated migratory protein

Synonyms

Aamp-rs

MMRRC Submission

042639-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R5049 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

74318999-74323897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74321698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 76 (S76P)

Ref Sequence

ENSEMBL: ENSMUSP00000139411 (fasta)

Gene Model

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

AlphaFold

J3QN89

Predicted Effect

probably damaging
Transcript: ENSMUST00000006462
AA Change: S137P

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

SMART Domains

Protein: ENSMUSP00000006462
Gene: ENSMUSG00000006299
AA Change: S137P

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: ENSMUST00000191258

Predicted Effect

probably damaging
Transcript: ENSMUST00000178235
AA Change: S138P

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

SMART Domains

Protein: ENSMUSP00000136644
Gene: ENSMUSG00000006299
AA Change: S138P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186833

Predicted Effect

probably damaging
Transcript: ENSMUST00000187046
AA Change: S76P

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

SMART Domains

Protein: ENSMUSP00000139411
Gene: ENSMUSG00000006299
AA Change: S76P

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

noncoding transcript
Transcript: ENSMUST00000152492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187908

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

Meta Mutation Damage Score

0.9063

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.8%
20x: 90.4%

Validation Efficiency

97% (89/92)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,641,610 (GRCm39)		probably benign	Het
Angptl7	A	G	4: 148,582,468 (GRCm39)	F143L	probably benign	Het
Atxn7l1	A	G	12: 33,408,686 (GRCm39)	T283A	probably benign	Het
Bltp1	T	A	3: 37,094,655 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,095,539 (GRCm39)	M1016T	probably damaging	Het
Brd3	G	T	2: 27,340,589 (GRCm39)		probably benign	Het
C130026L21Rik	T	A	5: 111,729,702 (GRCm39)		noncoding transcript	Het
Cbr4	T	G	8: 61,948,238 (GRCm39)		probably null	Het
Ccl19	A	G	4: 42,756,268 (GRCm39)		probably null	Het
Ccl2	G	T	11: 81,927,333 (GRCm39)	C34F	probably damaging	Het
Dnah12	A	T	14: 26,456,852 (GRCm39)	T873S	probably benign	Het
Dnah2	T	C	11: 69,338,992 (GRCm39)	N3118S	probably damaging	Het
Elapor2	A	G	5: 9,478,488 (GRCm39)	T451A	probably damaging	Het
Epb41l1	C	A	2: 156,366,859 (GRCm39)	P564Q	possibly damaging	Het
Extl3	A	T	14: 65,313,481 (GRCm39)	M567K	probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Foxf2	T	C	13: 31,811,158 (GRCm39)	S366P	probably benign	Het
Gamt	T	A	10: 80,094,788 (GRCm39)	T186S	probably benign	Het
Gcn1	T	A	5: 115,744,730 (GRCm39)	M1642K	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Golga1	A	T	2: 38,937,747 (GRCm39)	M115K	probably damaging	Het
Hapstr1	T	A	16: 8,661,073 (GRCm39)	D183E	probably damaging	Het
Herc3	A	G	6: 58,871,524 (GRCm39)		probably null	Het
Hes2	C	A	4: 152,244,331 (GRCm39)	L39I	possibly damaging	Het
Hopx	C	A	5: 77,242,899 (GRCm39)		probably benign	Het
Idi1	C	T	13: 8,938,078 (GRCm39)	P175S	probably damaging	Het
Ifit1bl1	A	T	19: 34,571,481 (GRCm39)	C325*	probably null	Het
Ighv7-3	T	C	12: 114,116,953 (GRCm39)	I70V	probably benign	Het
Kcnq3	T	C	15: 66,157,746 (GRCm39)	T110A	probably benign	Het
Kif5a	T	C	10: 127,075,708 (GRCm39)	D451G	possibly damaging	Het
Lama3	A	G	18: 12,715,668 (GRCm39)	E1708G	probably benign	Het
Lrriq4	T	A	3: 30,705,086 (GRCm39)	D371E	probably damaging	Het
Lyst	T	A	13: 13,810,649 (GRCm39)	V773E	probably damaging	Het
Map4	T	A	9: 109,908,882 (GRCm39)	L23*	probably null	Het
Mapkbp1	G	T	2: 119,845,982 (GRCm39)		probably benign	Het
Mrpl30	A	T	1: 37,936,791 (GRCm39)	D52V	possibly damaging	Het
Or10ag57	A	T	2: 87,219,002 (GRCm39)	T318S	probably benign	Het
Or13j1	A	T	4: 43,706,259 (GRCm39)	L103Q	probably damaging	Het
Pard3b	T	A	1: 62,200,320 (GRCm39)	H286Q	probably benign	Het
Parp4	A	G	14: 56,873,188 (GRCm39)	K1144R	possibly damaging	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pkhd1l1	T	C	15: 44,321,012 (GRCm39)	S22P	probably benign	Het
Prss32	A	T	17: 24,078,221 (GRCm39)	E302D	possibly damaging	Het
Prss45	A	G	9: 110,669,538 (GRCm39)	K205E	probably damaging	Het
Puf60	T	A	15: 75,942,323 (GRCm39)	I500F	probably damaging	Het
Ryr3	A	T	2: 112,470,516 (GRCm39)	I4623N	probably damaging	Het
Sh3bp5l	T	A	11: 58,228,950 (GRCm39)		probably benign	Het
Slc3a1	T	G	17: 85,340,273 (GRCm39)	Y232D	probably damaging	Het
Slc8a3	A	G	12: 81,260,906 (GRCm39)	Y608H	probably damaging	Het
Socs7	G	T	11: 97,269,469 (GRCm39)	R429L	probably benign	Het
Sorcs3	C	A	19: 48,748,390 (GRCm39)	N786K	possibly damaging	Het
Sp4	A	T	12: 118,218,207 (GRCm39)	M680K	probably benign	Het
Tas2r131	T	C	6: 132,934,540 (GRCm39)	T90A	probably damaging	Het
Tasor2	A	T	13: 3,624,000 (GRCm39)	H1983Q	probably benign	Het
Tbx21	T	C	11: 97,005,536 (GRCm39)	H143R	probably benign	Het
Tg	T	A	15: 66,699,231 (GRCm39)	C833*	probably null	Het
Tmem245	A	G	4: 56,925,057 (GRCm39)	S355P	probably benign	Het
Tmem86b	G	A	7: 4,631,465 (GRCm39)	P191S	possibly damaging	Het
Tnc	A	G	4: 63,936,223 (GRCm39)	C238R	probably damaging	Het
Tnn	T	A	1: 159,968,308 (GRCm39)	E361D	probably benign	Het
Tpp2	T	C	1: 44,040,633 (GRCm39)	V298A	possibly damaging	Het
Trav7-6	A	G	14: 53,954,536 (GRCm39)	N22S	probably damaging	Het
Trim75	T	C	8: 65,435,091 (GRCm39)		probably null	Het
Trrap	T	A	5: 144,763,527 (GRCm39)	I2492N	probably damaging	Het
Ufl1	G	T	4: 25,254,773 (GRCm39)	A561E	probably benign	Het
Uqcc1	A	G	2: 155,752,341 (GRCm39)	V86A	probably damaging	Het
Vmn1r184	A	G	7: 25,966,793 (GRCm39)	I180V	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,920 (GRCm39)	F195S	possibly damaging	Het
Vmn2r4	A	C	3: 64,306,019 (GRCm39)		probably null	Het
Vmn2r87	T	C	10: 130,308,298 (GRCm39)	T647A	probably damaging	Het
Vps13d	A	T	4: 144,813,336 (GRCm39)	H198Q	probably damaging	Het
Wdfy4	T	C	14: 32,874,627 (GRCm39)	T154A	possibly damaging	Het
Xirp2	A	G	2: 67,347,478 (GRCm39)	M3240V	probably benign	Het
Zfp101	T	C	17: 33,600,872 (GRCm39)	R295G	possibly damaging	Het
Zfp619	G	A	7: 39,184,938 (GRCm39)	V323I	probably benign	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	possibly damaging	Het
Zswim6	C	T	13: 107,863,110 (GRCm39)		noncoding transcript	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
R4112:Aamp	UTSW	1	74,320,386 (GRCm39)	unclassified	probably benign
R4223:Aamp	UTSW	1	74,320,285 (GRCm39)	missense	probably damaging	0.98
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'- GCAAACTTCTCCAGGCTAGATC -3'
(R):5'- ATGGGTCACTTGTCCCCAAC -3'

Sequencing Primer
(F):5'- AGGCTAGATCTGGATCCGTC -3'
(R):5'- GGGTCACTTGTCCCCAACATTTAG -3'

Posted On

2016-06-15