Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01843:A2ml1'

178116

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A2ml1

Ensembl Gene

ENSMUSG00000047228

Gene Name

alpha-2-macroglobulin like 1

Synonyms

BC048546, Ovos2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01843

Quality Score

Status

Chromosome

Chromosomal Location

128516784-128558571 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 128530301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000059426 (fasta)

Gene Model

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

AlphaFold

Q3UU35

Predicted Effect

probably benign
Transcript: ENSMUST00000060574

SMART Domains

Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205167

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1b1	T	C	11: 4,989,169 (GRCm39)	L782P	probably damaging	Het
Arid1a	T	C	4: 133,408,765 (GRCm39)	D1914G	unknown	Het
C8a	G	A	4: 104,719,808 (GRCm39)	Q57*	probably null	Het
Cachd1	T	C	4: 100,850,069 (GRCm39)	S1144P	probably damaging	Het
Cdh23	A	T	10: 60,255,598 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,924,268 (GRCm39)	Q198R	possibly damaging	Het
Cpne8	T	C	15: 90,453,700 (GRCm39)	I228V	probably benign	Het
Cr2	A	T	1: 194,833,222 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,522,395 (GRCm39)		probably benign	Het
Cyp2c23	A	G	19: 43,994,046 (GRCm39)	V440A	probably benign	Het
Dag1	T	C	9: 108,085,281 (GRCm39)	D620G	possibly damaging	Het
Dmxl1	T	A	18: 50,011,449 (GRCm39)	L1202*	probably null	Het
Dnah3	T	G	7: 119,542,798 (GRCm39)	H3538P	probably benign	Het
Dock8	A	T	19: 25,067,292 (GRCm39)	Q312L	probably benign	Het
E2f7	T	G	10: 110,610,596 (GRCm39)	V407G	probably benign	Het
F13b	T	C	1: 139,444,165 (GRCm39)	S500P	probably damaging	Het
F5	A	G	1: 164,039,395 (GRCm39)	I2002V	probably benign	Het
Flywch1	T	A	17: 23,979,319 (GRCm39)	M439L	possibly damaging	Het
Gcn1	C	A	5: 115,757,759 (GRCm39)	A2488E	probably damaging	Het
Gria1	T	C	11: 57,208,600 (GRCm39)	S832P	probably damaging	Het
Hnrnpr	T	C	4: 136,066,724 (GRCm39)		probably benign	Het
Hps3	A	G	3: 20,083,165 (GRCm39)	I177T	probably benign	Het
Irgm2	G	A	11: 58,111,167 (GRCm39)	G298D	probably benign	Het
Kcnk7	G	A	19: 5,756,230 (GRCm39)	G152D	probably damaging	Het
Man2a2	T	C	7: 80,012,654 (GRCm39)	T620A	probably benign	Het
Mapk12	A	G	15: 89,021,669 (GRCm39)		probably benign	Het
Mapk6	T	C	9: 75,297,572 (GRCm39)	Y315C	probably damaging	Het
Mdga2	T	A	12: 66,769,905 (GRCm39)		probably null	Het
Met	T	A	6: 17,491,700 (GRCm39)	I154N	probably damaging	Het
Mtrex	T	C	13: 113,055,095 (GRCm39)		probably benign	Het
Nap1l1	A	G	10: 111,328,772 (GRCm39)	R234G	possibly damaging	Het
Olfm5	C	A	7: 103,809,951 (GRCm39)	V137F	possibly damaging	Het
Or4d11	G	T	19: 12,014,041 (GRCm39)	H22N	probably benign	Het
Pcdha11	C	T	18: 37,145,886 (GRCm39)	T659I	probably benign	Het
Pfkm	T	C	15: 98,027,187 (GRCm39)	V620A	possibly damaging	Het
Rbak	A	G	5: 143,162,355 (GRCm39)		probably benign	Het
Rbl2	A	G	8: 91,816,844 (GRCm39)	I401M	probably benign	Het
Rragc	T	C	4: 123,814,852 (GRCm39)	S183P	probably damaging	Het
Septin3	A	G	15: 82,163,814 (GRCm39)		probably benign	Het
Slc22a6	A	T	19: 8,603,578 (GRCm39)		probably benign	Het
Spag4	A	T	2: 155,910,417 (GRCm39)	T348S	probably benign	Het
Sptbn1	T	C	11: 30,054,623 (GRCm39)	R2157G	probably benign	Het
Tmem168	G	A	6: 13,582,940 (GRCm39)	T263M	probably damaging	Het
Tnik	T	A	3: 28,625,007 (GRCm39)		probably null	Het
Tnpo2	T	A	8: 85,777,137 (GRCm39)	V549E	probably damaging	Het
Ttll7	A	C	3: 146,645,776 (GRCm39)	K545Q	possibly damaging	Het
Tubgcp5	T	G	7: 55,449,221 (GRCm39)	D139E	probably benign	Het
Vmn1r233	T	A	17: 21,214,861 (GRCm39)	N30Y	probably damaging	Het
Vmn2r25	T	G	6: 123,829,962 (GRCm39)	D63A	possibly damaging	Het
Vmn2r79	T	A	7: 86,686,485 (GRCm39)	L622Q	probably damaging	Het
Vmn2r84	T	C	10: 130,222,148 (GRCm39)	M691V	probably benign	Het
Zc3hc1	A	T	6: 30,372,729 (GRCm39)		probably benign	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
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
R0523:A2ml1	UTSW	6	128,535,289 (GRCm39)	missense	possibly damaging	0.92
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

Posted On

2014-05-07