Mutagenetix > Incidental Mutation

Incidental Mutation 'R0523:A2ml1'

48703

Institutional Source

Beutler Lab

Gene Symbol

A2ml1

Ensembl Gene

ENSMUSG00000047228

Gene Name

alpha-2-macroglobulin like 1

Synonyms

BC048546, Ovos2

MMRRC Submission

038716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128516784-128558571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128535289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 807 (D807G)

Ref Sequence

ENSEMBL: ENSMUSP00000059426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060574]

AlphaFold

Q3UU35

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060574
AA Change: D807G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228
AA Change: D807G

Domain	Start	End	E-Value	Type
low complexity region	42	58	N/A	INTRINSIC
Pfam:A2M_N	120	213	6.3e-17	PFAM
A2M_N_2	448	594	2.95e-37	SMART
A2M	736	826	2.11e-33	SMART
Pfam:Thiol-ester_cl	959	988	3.1e-17	PFAM
Pfam:A2M_comp	1008	1255	2.3e-71	PFAM
A2M_recep	1361	1447	1.22e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203889

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	A	17: 33,652,323 (GRCm39)	W128R	probably damaging	Het
Aggf1	T	C	13: 95,492,924 (GRCm39)	I562V	probably damaging	Het
Ano3	T	A	2: 110,715,200 (GRCm39)	E79D	probably benign	Het
Apobec1	T	A	6: 122,558,504 (GRCm39)	I84F	probably damaging	Het
Atp6v1b2	T	C	8: 69,562,637 (GRCm39)	F458L	possibly damaging	Het
Bco2	A	T	9: 50,445,926 (GRCm39)	V490E	probably damaging	Het
Catsperg1	G	A	7: 28,884,615 (GRCm39)		probably benign	Het
Cdc37	T	C	9: 21,054,292 (GRCm39)	K111R	probably damaging	Het
Cfap54	T	C	10: 92,744,745 (GRCm39)		probably benign	Het
Cfap91	G	A	16: 38,148,736 (GRCm39)	P231S	probably damaging	Het
Cplane1	T	A	15: 8,223,870 (GRCm39)	Y878N	probably damaging	Het
Cpox	T	A	16: 58,495,608 (GRCm39)	C308*	probably null	Het
Cracdl	A	T	1: 37,683,710 (GRCm39)	M1K	probably null	Het
Ctnna3	T	G	10: 64,511,688 (GRCm39)	M626R	probably damaging	Het
Cyp2c68	T	C	19: 39,727,873 (GRCm39)	E93G	probably benign	Het
Cyp2s1	G	A	7: 25,505,475 (GRCm39)	R330W	probably damaging	Het
Diaph1	C	T	18: 37,989,553 (GRCm39)	V860I	possibly damaging	Het
Dicer1	A	G	12: 104,668,750 (GRCm39)	S1311P	probably damaging	Het
Dpyd	G	A	3: 118,692,852 (GRCm39)	R332K	probably benign	Het
E130308A19Rik	G	A	4: 59,719,716 (GRCm39)	R416H	probably damaging	Het
Eef1d	T	C	15: 75,775,005 (GRCm39)	D218G	probably benign	Het
Eif2ak1	T	C	5: 143,818,984 (GRCm39)	V215A	probably damaging	Het
Eif2ak4	T	C	2: 118,272,577 (GRCm39)		probably null	Het
Fcrl5	T	C	3: 87,365,099 (GRCm39)	S583P	possibly damaging	Het
Garin5b	A	G	7: 4,762,392 (GRCm39)	S246P	possibly damaging	Het
Grid2ip	C	A	5: 143,358,798 (GRCm39)	Q29K	possibly damaging	Het
Htr1f	A	T	16: 64,746,262 (GRCm39)	N343K	probably damaging	Het
Hvcn1	T	C	5: 122,354,428 (GRCm39)		probably null	Het
Igf2r	T	C	17: 12,910,951 (GRCm39)	I1956V	probably benign	Het
Impdh2	A	T	9: 108,439,018 (GRCm39)		probably null	Het
Impdh2	C	T	9: 108,439,019 (GRCm39)	T96I	possibly damaging	Het
Lactb	C	G	9: 66,877,974 (GRCm39)	G285A	probably benign	Het
Lrrc43	T	C	5: 123,639,305 (GRCm39)	S445P	probably damaging	Het
Mapk12	T	G	15: 89,019,848 (GRCm39)	M120L	probably benign	Het
Mroh8	C	G	2: 157,065,956 (GRCm39)	A669P	probably damaging	Het
Mrpl38	A	C	11: 116,022,844 (GRCm39)	H373Q	probably benign	Het
Myocd	A	G	11: 65,071,728 (GRCm39)	V740A	probably damaging	Het
Naprt	A	G	15: 75,764,314 (GRCm39)	F300S	probably damaging	Het
Ncam2	T	C	16: 81,258,531 (GRCm39)	I271T	probably damaging	Het
Nek4	A	G	14: 30,701,995 (GRCm39)	T582A	probably benign	Het
Notch2	C	T	3: 97,978,286 (GRCm39)	T89I	probably benign	Het
Notch2	G	A	3: 98,018,914 (GRCm39)	R692H	probably benign	Het
Nt5c3	A	T	6: 56,860,666 (GRCm39)	N296K	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Oas3	T	C	5: 120,904,209 (GRCm39)	Q555R	unknown	Het
Or2ag17	A	G	7: 106,389,533 (GRCm39)	V225A	probably damaging	Het
Or5p69	A	T	7: 107,967,438 (GRCm39)	H247L	probably damaging	Het
Or9g19	T	A	2: 85,600,273 (GRCm39)	S43T	probably benign	Het
P3h1	C	A	4: 119,098,727 (GRCm39)	Q410K	probably benign	Het
Pax3	A	G	1: 78,172,078 (GRCm39)	V44A	possibly damaging	Het
Pde1c	T	A	6: 56,151,926 (GRCm39)	L252F	probably damaging	Het
Pdzd7	T	A	19: 45,024,529 (GRCm39)	T497S	probably benign	Het
Piezo2	T	C	18: 63,155,552 (GRCm39)	T253A	probably damaging	Het
Pipox	T	C	11: 77,782,965 (GRCm39)	E79G	probably damaging	Het
Pole	G	T	5: 110,451,459 (GRCm39)	M829I	probably damaging	Het
Ppp1r12c	A	T	7: 4,492,771 (GRCm39)	L156Q	probably damaging	Het
Psme2b	T	G	11: 48,836,609 (GRCm39)	T113P	probably damaging	Het
Ptprq	A	G	10: 107,416,081 (GRCm39)	I1739T	possibly damaging	Het
Qser1	T	C	2: 104,620,021 (GRCm39)	T174A	probably damaging	Het
Rcor3	T	G	1: 191,814,736 (GRCm39)	D81A	probably damaging	Het
Rev3l	T	C	10: 39,724,045 (GRCm39)	V785A	probably benign	Het
Rnf11	T	C	4: 109,314,119 (GRCm39)	D90G	probably benign	Het
Sh3tc1	GCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCC	5: 35,881,410 (GRCm39)		probably benign	Het
Smad2	T	A	18: 76,395,623 (GRCm39)	S21T	probably benign	Het
Smc4	A	G	3: 68,933,221 (GRCm39)	D639G	probably damaging	Het
Smtn	A	T	11: 3,474,664 (GRCm39)	S716T	possibly damaging	Het
Smug1	G	T	15: 103,064,136 (GRCm39)	Q262K	probably benign	Het
Sspo	G	T	6: 48,428,794 (GRCm39)	G403V	probably benign	Het
Tas2r131	A	G	6: 132,934,414 (GRCm39)	F132L	possibly damaging	Het
Tgm3	T	C	2: 129,886,582 (GRCm39)		probably null	Het
Tigd2	C	T	6: 59,187,358 (GRCm39)	T75M	probably benign	Het
Tnfrsf13b	T	C	11: 61,038,413 (GRCm39)	V232A	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim47	A	G	11: 115,998,716 (GRCm39)	L301S	probably damaging	Het
Trim75	G	A	8: 65,436,442 (GRCm39)	H3Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Tsbp1	G	T	17: 34,664,473 (GRCm39)		probably null	Het
Ttc29	G	C	8: 79,003,466 (GRCm39)	L227F	probably benign	Het
Ttc39d	G	A	17: 80,523,886 (GRCm39)	D182N	possibly damaging	Het
Ttll10	T	A	4: 156,129,818 (GRCm39)	R164*	probably null	Het
Ufsp2	T	A	8: 46,449,780 (GRCm39)	D447E	probably benign	Het
Ugt2b37	T	A	5: 87,399,691 (GRCm39)	L272F	possibly damaging	Het
Vps13b	T	C	15: 35,472,196 (GRCm39)	V833A	probably benign	Het
Zbbx	T	C	3: 74,989,165 (GRCm39)	T308A	probably benign	Het
Zfp933	G	A	4: 147,910,919 (GRCm39)	Q226*	probably null	Het

Other mutations in A2ml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:A2ml1	APN	6	128,555,119 (GRCm39)	missense	possibly damaging	0.78
IGL00596:A2ml1	APN	6	128,547,030 (GRCm39)	missense	probably damaging	0.99
IGL00912:A2ml1	APN	6	128,529,270 (GRCm39)	missense	probably benign	0.04
IGL01320:A2ml1	APN	6	128,552,551 (GRCm39)	missense	probably benign	0.00
IGL01470:A2ml1	APN	6	128,557,375 (GRCm39)	missense	probably damaging	0.96
IGL01576:A2ml1	APN	6	128,531,293 (GRCm39)	splice site	probably benign
IGL01761:A2ml1	APN	6	128,523,300 (GRCm39)	missense	possibly damaging	0.61
IGL01792:A2ml1	APN	6	128,537,642 (GRCm39)	missense	probably benign	0.04
IGL01843:A2ml1	APN	6	128,530,301 (GRCm39)	splice site	probably benign
IGL01946:A2ml1	APN	6	128,547,442 (GRCm39)	missense	possibly damaging	0.81
IGL02016:A2ml1	APN	6	128,535,298 (GRCm39)	missense	probably damaging	1.00
IGL02170:A2ml1	APN	6	128,524,173 (GRCm39)	missense	possibly damaging	0.58
IGL02269:A2ml1	APN	6	128,530,301 (GRCm39)	splice site	probably benign
IGL02589:A2ml1	APN	6	128,558,463 (GRCm39)	missense	probably benign	0.00
IGL02959:A2ml1	APN	6	128,544,023 (GRCm39)	missense	probably benign	0.04
IGL02970:A2ml1	APN	6	128,546,942 (GRCm39)	missense	probably damaging	1.00
IGL03206:A2ml1	APN	6	128,530,239 (GRCm39)	missense	possibly damaging	0.50
IGL03298:A2ml1	APN	6	128,520,923 (GRCm39)	missense	probably benign	0.00
1mM(1):A2ml1	UTSW	6	128,557,923 (GRCm39)	missense	probably benign	0.02
R0055:A2ml1	UTSW	6	128,547,057 (GRCm39)	splice site	probably benign
R0055:A2ml1	UTSW	6	128,547,057 (GRCm39)	splice site	probably benign
R0069:A2ml1	UTSW	6	128,538,525 (GRCm39)	missense	probably damaging	1.00
R0069:A2ml1	UTSW	6	128,538,525 (GRCm39)	missense	probably damaging	1.00
R0128:A2ml1	UTSW	6	128,552,602 (GRCm39)	splice site	probably benign
R0299:A2ml1	UTSW	6	128,530,195 (GRCm39)	splice site	probably benign
R0565:A2ml1	UTSW	6	128,545,706 (GRCm39)	nonsense	probably null
R0599:A2ml1	UTSW	6	128,529,208 (GRCm39)	missense	probably damaging	1.00
R0626:A2ml1	UTSW	6	128,527,736 (GRCm39)	missense	probably damaging	0.99
R0732:A2ml1	UTSW	6	128,523,411 (GRCm39)	missense	probably damaging	1.00
R0880:A2ml1	UTSW	6	128,537,609 (GRCm39)	missense	possibly damaging	0.49
R1070:A2ml1	UTSW	6	128,520,263 (GRCm39)	missense	probably damaging	1.00
R1166:A2ml1	UTSW	6	128,547,880 (GRCm39)	missense	probably benign	0.00
R1278:A2ml1	UTSW	6	128,535,470 (GRCm39)	missense	probably damaging	1.00
R1421:A2ml1	UTSW	6	128,520,923 (GRCm39)	missense	probably benign	0.00
R1536:A2ml1	UTSW	6	128,524,196 (GRCm39)	nonsense	probably null
R1786:A2ml1	UTSW	6	128,553,223 (GRCm39)	missense	probably damaging	1.00
R1808:A2ml1	UTSW	6	128,520,262 (GRCm39)	missense	probably damaging	1.00
R1813:A2ml1	UTSW	6	128,543,236 (GRCm39)	missense	probably benign	0.34
R1863:A2ml1	UTSW	6	128,527,746 (GRCm39)	missense	probably damaging	0.99
R2007:A2ml1	UTSW	6	128,519,855 (GRCm39)	missense	probably benign	0.13
R2062:A2ml1	UTSW	6	128,529,271 (GRCm39)	missense	probably benign	0.08
R2127:A2ml1	UTSW	6	128,535,400 (GRCm39)	missense	probably damaging	1.00
R2130:A2ml1	UTSW	6	128,553,223 (GRCm39)	missense	probably damaging	1.00
R2131:A2ml1	UTSW	6	128,553,223 (GRCm39)	missense	probably damaging	1.00
R2201:A2ml1	UTSW	6	128,524,268 (GRCm39)	missense	probably null	0.34
R2319:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R2321:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R2322:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R2369:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R2370:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R2371:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R2372:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R2375:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R2893:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R2894:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R3438:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R3615:A2ml1	UTSW	6	128,535,257 (GRCm39)	missense	probably benign	0.07
R3616:A2ml1	UTSW	6	128,535,257 (GRCm39)	missense	probably benign	0.07
R3773:A2ml1	UTSW	6	128,532,046 (GRCm39)	missense	probably benign	0.02
R3785:A2ml1	UTSW	6	128,521,887 (GRCm39)	critical splice donor site	probably null
R3803:A2ml1	UTSW	6	128,522,033 (GRCm39)	missense	probably benign	0.17
R3824:A2ml1	UTSW	6	128,545,726 (GRCm39)	missense	probably damaging	0.99
R3878:A2ml1	UTSW	6	128,531,324 (GRCm39)	missense	probably benign	0.05
R4176:A2ml1	UTSW	6	128,522,000 (GRCm39)	missense	possibly damaging	0.68
R4229:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R4230:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R4348:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R4351:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R4352:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R4353:A2ml1	UTSW	6	128,557,349 (GRCm39)	missense	probably benign	0.01
R4427:A2ml1	UTSW	6	128,522,009 (GRCm39)	missense	probably benign	0.00
R4971:A2ml1	UTSW	6	128,524,190 (GRCm39)	missense	probably damaging	0.98
R5014:A2ml1	UTSW	6	128,520,896 (GRCm39)	missense	probably benign	0.00
R5369:A2ml1	UTSW	6	128,545,796 (GRCm39)	missense	probably damaging	0.97
R5532:A2ml1	UTSW	6	128,530,293 (GRCm39)	critical splice acceptor site	probably null
R5860:A2ml1	UTSW	6	128,518,024 (GRCm39)	missense	probably benign	0.15
R5872:A2ml1	UTSW	6	128,538,489 (GRCm39)	missense	probably damaging	1.00
R5926:A2ml1	UTSW	6	128,537,608 (GRCm39)	missense	probably benign
R5977:A2ml1	UTSW	6	128,558,085 (GRCm39)	missense	probably damaging	1.00
R5980:A2ml1	UTSW	6	128,544,018 (GRCm39)	missense	possibly damaging	0.82
R6014:A2ml1	UTSW	6	128,548,948 (GRCm39)	missense	probably damaging	1.00
R6032:A2ml1	UTSW	6	128,526,799 (GRCm39)	nonsense	probably null
R6032:A2ml1	UTSW	6	128,526,799 (GRCm39)	nonsense	probably null
R6061:A2ml1	UTSW	6	128,545,675 (GRCm39)	missense	probably damaging	1.00
R6327:A2ml1	UTSW	6	128,535,655 (GRCm39)	splice site	probably null
R6331:A2ml1	UTSW	6	128,529,199 (GRCm39)	missense	probably damaging	0.96
R6465:A2ml1	UTSW	6	128,518,041 (GRCm39)	missense	probably damaging	1.00
R6640:A2ml1	UTSW	6	128,530,248 (GRCm39)	missense	probably benign	0.41
R6792:A2ml1	UTSW	6	128,523,292 (GRCm39)	nonsense	probably null
R6793:A2ml1	UTSW	6	128,523,292 (GRCm39)	nonsense	probably null
R7207:A2ml1	UTSW	6	128,527,734 (GRCm39)	missense	probably benign	0.04
R7378:A2ml1	UTSW	6	128,523,210 (GRCm39)	critical splice donor site	probably null
R7556:A2ml1	UTSW	6	128,546,927 (GRCm39)	missense	probably damaging	1.00
R8010:A2ml1	UTSW	6	128,557,303 (GRCm39)	missense	probably benign	0.08
R8017:A2ml1	UTSW	6	128,558,410 (GRCm39)	critical splice donor site	probably null
R8019:A2ml1	UTSW	6	128,558,410 (GRCm39)	critical splice donor site	probably null
R8035:A2ml1	UTSW	6	128,530,243 (GRCm39)	missense	probably damaging	0.99
R8094:A2ml1	UTSW	6	128,549,045 (GRCm39)	missense	probably damaging	1.00
R8144:A2ml1	UTSW	6	128,546,962 (GRCm39)	missense	possibly damaging	0.84
R8365:A2ml1	UTSW	6	128,557,918 (GRCm39)	nonsense	probably null
R8382:A2ml1	UTSW	6	128,537,645 (GRCm39)	missense	probably benign	0.01
R8388:A2ml1	UTSW	6	128,548,937 (GRCm39)	missense	probably benign	0.03
R8717:A2ml1	UTSW	6	128,543,958 (GRCm39)	missense	probably benign	0.00
R8947:A2ml1	UTSW	6	128,529,219 (GRCm39)	missense	probably damaging	1.00
R8970:A2ml1	UTSW	6	128,545,726 (GRCm39)	missense	probably damaging	0.99
R9025:A2ml1	UTSW	6	128,534,545 (GRCm39)	missense	possibly damaging	0.49
R9083:A2ml1	UTSW	6	128,534,524 (GRCm39)	missense	possibly damaging	0.90
R9129:A2ml1	UTSW	6	128,523,223 (GRCm39)	missense	probably damaging	1.00
R9145:A2ml1	UTSW	6	128,536,032 (GRCm39)	missense	probably benign
R9165:A2ml1	UTSW	6	128,537,632 (GRCm39)	missense	probably benign
R9285:A2ml1	UTSW	6	128,526,756 (GRCm39)	missense	probably benign
R9408:A2ml1	UTSW	6	128,522,030 (GRCm39)	missense	probably damaging	0.98
R9486:A2ml1	UTSW	6	128,546,942 (GRCm39)	missense	probably damaging	0.99
R9781:A2ml1	UTSW	6	128,519,860 (GRCm39)	missense	probably benign	0.01
RF014:A2ml1	UTSW	6	128,547,031 (GRCm39)	missense	probably damaging	0.96
X0063:A2ml1	UTSW	6	128,548,975 (GRCm39)	missense	probably benign
Z1176:A2ml1	UTSW	6	128,548,940 (GRCm39)	missense	probably benign	0.09
Z1177:A2ml1	UTSW	6	128,552,570 (GRCm39)	missense	possibly damaging	0.80
Z1177:A2ml1	UTSW	6	128,538,579 (GRCm39)	nonsense	probably null
Z1177:A2ml1	UTSW	6	128,522,039 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAACAGCAGAATGGGCATCATCAC -3'
(R):5'- TGTCTTCTCAGTTCCTCAGGCACAG -3'

Sequencing Primer
(F):5'- gttcagttcccagcaccc -3'
(R):5'- GGCACAGCAAATGTCTCGTTC -3'

Posted On

2013-06-12