Mutagenetix > Incidental Mutation

Incidental Mutation 'R1590:Aamp'

177776

Institutional Source

Beutler Lab

Gene Symbol

Aamp

Ensembl Gene

ENSMUSG00000006299

Gene Name

angio-associated migratory protein

Synonyms

Aamp-rs

MMRRC Submission

039627-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R1590 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

74318999-74323897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74322370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 95 (S95P)

Ref Sequence

ENSEMBL: ENSMUSP00000136644 (fasta)

Gene Model

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

AlphaFold

J3QN89

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006462
AA Change: S94P

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000006462
Gene: ENSMUSG00000006299
AA Change: S94P

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

probably damaging
Transcript: ENSMUST00000178235
AA Change: S95P

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

SMART Domains

Protein: ENSMUSP00000136644
Gene: ENSMUSG00000006299
AA Change: S95P

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

unknown
Transcript: ENSMUST00000190008
AA Change: S88P

SMART Domains

Protein: ENSMUSP00000140427
Gene: ENSMUSG00000006299
AA Change: S88P

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 damaging
Transcript: ENSMUST00000187046
AA Change: S33P

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139411
Gene: ENSMUSG00000006299
AA Change: S33P

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: ENSMUST00000191258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187908

Meta Mutation Damage Score

0.3161

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.4%

Validation Efficiency

97% (69/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankmy1	T	C	1: 92,816,397 (GRCm39)	Y239C	probably damaging	Het
Atp12a	T	C	14: 56,617,512 (GRCm39)	S601P	probably damaging	Het
Atp1b3	T	C	9: 96,225,402 (GRCm39)	T89A	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Brme1	A	T	8: 84,893,715 (GRCm39)	Q294L	probably benign	Het
Btnl2	A	T	17: 34,580,114 (GRCm39)	I216F	possibly damaging	Het
Cabs1	A	T	5: 88,127,490 (GRCm39)	H47L	probably damaging	Het
Ccdc68	T	A	18: 70,073,251 (GRCm39)	D66E	probably benign	Het
Cdc42ep4	T	C	11: 113,619,392 (GRCm39)	D333G	possibly damaging	Het
Ckmt1	G	A	2: 121,194,003 (GRCm39)	D389N	possibly damaging	Het
Dact1	G	T	12: 71,364,349 (GRCm39)	V340F	probably benign	Het
Dnah2	T	C	11: 69,412,024 (GRCm39)	T246A	probably benign	Het
Dnah2	A	G	11: 69,313,580 (GRCm39)		probably null	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Efcab14	A	G	4: 115,613,746 (GRCm39)		probably benign	Het
Eprs1	A	G	1: 185,133,707 (GRCm39)	T795A	probably damaging	Het
Esp36	T	A	17: 38,728,202 (GRCm39)	E26D	possibly damaging	Het
Fpr-rs7	T	C	17: 20,333,678 (GRCm39)	T271A	probably benign	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gimap7	G	A	6: 48,700,953 (GRCm39)	V180M	probably damaging	Het
Gtf3c1	T	C	7: 125,275,833 (GRCm39)	H531R	possibly damaging	Het
Herc1	T	A	9: 66,399,235 (GRCm39)		probably benign	Het
Hip1r	A	G	5: 124,140,203 (GRCm39)	Y1061C	probably benign	Het
Ipo11	T	C	13: 107,023,225 (GRCm39)	Y420C	probably damaging	Het
Ipo8	T	C	6: 148,712,163 (GRCm39)		probably null	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl1	A	T	14: 96,606,072 (GRCm39)	M243K	probably damaging	Het
Lrp2	A	G	2: 69,297,107 (GRCm39)		probably null	Het
Mag	T	C	7: 30,601,277 (GRCm39)	E439G	probably damaging	Het
Mcm3ap	T	A	10: 76,332,375 (GRCm39)	F1231I	probably benign	Het
Mcmdc2	C	T	1: 9,986,780 (GRCm39)	Q204*	probably null	Het
Mpl	A	C	4: 118,301,221 (GRCm39)	L548R	probably damaging	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Myo18b	G	A	5: 113,023,132 (GRCm39)	Q87*	probably null	Het
Nfat5	A	G	8: 108,020,522 (GRCm39)	Y22C	probably damaging	Het
Nnt	T	A	13: 119,523,197 (GRCm39)	I232L	possibly damaging	Het
Or2a52	A	G	6: 43,144,846 (GRCm39)	N285D	probably damaging	Het
Or8g17	T	C	9: 38,930,253 (GRCm39)	N195D	probably benign	Het
Or9s13	G	A	1: 92,548,467 (GRCm39)	V280M	possibly damaging	Het
Parp2	C	T	14: 51,048,001 (GRCm39)	P76S	probably benign	Het
Pick1	C	T	15: 79,129,501 (GRCm39)	H169Y	probably benign	Het
Prtg	T	A	9: 72,750,089 (GRCm39)	F164L	probably benign	Het
Pygb	A	G	2: 150,659,583 (GRCm39)	D422G	possibly damaging	Het
Samd9l	C	A	6: 3,375,761 (GRCm39)	C500F	probably benign	Het
Sbno1	A	C	5: 124,522,567 (GRCm39)	N1083K	possibly damaging	Het
Septin7	C	T	9: 25,188,900 (GRCm39)	S77F	probably damaging	Het
Slc25a44	A	G	3: 88,323,314 (GRCm39)	V264A	possibly damaging	Het
Slco1a8	C	T	6: 141,926,598 (GRCm39)	S576N	probably benign	Het
Slf2	G	T	19: 44,930,512 (GRCm39)	E530*	probably null	Het
Svs5	A	G	2: 164,079,578 (GRCm39)	S110P	possibly damaging	Het
Tmbim7	G	T	5: 3,715,338 (GRCm39)		probably null	Het
Tpgs2	T	C	18: 25,273,630 (GRCm39)	D177G	probably damaging	Het
Uba1y	T	A	Y: 826,893 (GRCm39)	F516L	probably damaging	Het
Ulk1	A	G	5: 110,943,632 (GRCm39)	V211A	probably damaging	Het
Vmn1r237	T	A	17: 21,534,301 (GRCm39)	I8N	probably damaging	Het
Vmn2r103	G	T	17: 20,014,496 (GRCm39)	M429I	probably benign	Het
Vmn2r112	T	C	17: 22,833,989 (GRCm39)		probably null	Het
Vmn2r84	T	C	10: 130,227,349 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	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
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
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'- CAAATGCCTGCCAAACAGTTCTTCC -3'
(R):5'- TCTCTAACAACCTGAGGCTCCAGAC -3'

Sequencing Primer
(F):5'- AAACAGTTCTTCCATTGTGGGTC -3'
(R):5'- CTGAGGCTCCAGACAAGAACTG -3'

Posted On

2014-04-24