Mutagenetix > Incidental Mutation

Incidental Mutation 'R4352:A2ml1'

327335

Institutional Source

Beutler Lab

Gene Symbol

A2ml1

Ensembl Gene

ENSMUSG00000047228

Gene Name

alpha-2-macroglobulin like 1

Synonyms

BC048546, Ovos2

MMRRC Submission

041668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128516784-128558571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128557349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 115 (A115T)

Ref Sequence

ENSEMBL: ENSMUSP00000059426 (fasta)

Gene Model

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

AlphaFold

Q3UU35

Predicted Effect

probably benign
Transcript: ENSMUST00000060574
AA Change: A115T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228
AA Change: A115T

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: ENSMUST00000203129

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (79/82)

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,513,738 (GRCm39)	D382E	possibly damaging	Het
Adamts1	T	A	16: 85,599,234 (GRCm39)	D122V	probably benign	Het
Ankrd54	A	T	15: 78,939,662 (GRCm39)	F176I	probably benign	Het
Ano3	T	A	2: 110,576,239 (GRCm39)	E94V	possibly damaging	Het
Arid1b	A	T	17: 5,147,859 (GRCm39)	Q587L	possibly damaging	Het
Atg2a	G	A	19: 6,307,487 (GRCm39)	V1474M	probably benign	Het
Bcl2a1d	A	G	9: 88,613,552 (GRCm39)	V74A	probably damaging	Het
Bmper	A	G	9: 23,395,248 (GRCm39)	I660V	probably benign	Het
Cdh20	A	G	1: 104,906,814 (GRCm39)	D547G	probably damaging	Het
Cds2	T	A	2: 132,105,365 (GRCm39)	M1K	probably null	Het
Ctr9	T	A	7: 110,648,525 (GRCm39)	Y722N	probably damaging	Het
Ddx47	C	T	6: 134,995,018 (GRCm39)	T161I	probably benign	Het
Dvl3	T	C	16: 20,344,394 (GRCm39)	Y257H	possibly damaging	Het
Dzip1	T	C	14: 119,120,938 (GRCm39)	D673G	probably benign	Het
Efcab3	T	A	11: 104,630,140 (GRCm39)	L957Q	probably null	Het
Emilin2	T	C	17: 71,587,726 (GRCm39)	M129V	probably benign	Het
Eml1	A	T	12: 108,501,096 (GRCm39)		probably benign	Het
Espnl	A	T	1: 91,262,443 (GRCm39)	D296V	probably damaging	Het
Fam161a	T	G	11: 22,970,798 (GRCm39)	S109R	possibly damaging	Het
Fat3	T	G	9: 16,158,074 (GRCm39)	T1179P	possibly damaging	Het
Gfra1	A	T	19: 58,255,456 (GRCm39)	N330K	probably benign	Het
Gfy	T	C	7: 44,827,040 (GRCm39)	E352G	probably benign	Het
Gm20775	A	T	Y: 10,641,648 (GRCm39)		noncoding transcript	Het
Gm5885	T	A	6: 133,508,152 (GRCm39)		noncoding transcript	Het
Gpatch11	T	C	17: 79,148,446 (GRCm39)	L128P	probably damaging	Het
H2-Q1	A	G	17: 35,539,919 (GRCm39)	N63D	possibly damaging	Het
Itgb2	A	T	10: 77,392,001 (GRCm39)	N358I	probably benign	Het
Jmjd1c	A	G	10: 67,080,588 (GRCm39)	T2247A	probably damaging	Het
Kcnma1	T	A	14: 23,361,720 (GRCm39)	K1036I	probably damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrch1	G	T	14: 75,056,018 (GRCm39)	S278R	probably damaging	Het
Lrp2	C	A	2: 69,262,526 (GRCm39)		probably null	Het
Lyn	G	A	4: 3,789,796 (GRCm39)	R443H	probably damaging	Het
Mecom	C	A	3: 30,020,887 (GRCm39)	V452L	possibly damaging	Het
Mpzl1	G	A	1: 165,433,376 (GRCm39)	Q36*	probably null	Het
Msantd5	A	G	11: 51,125,646 (GRCm39)	N190D	possibly damaging	Het
Npr2	T	C	4: 43,646,592 (GRCm39)	S647P	probably damaging	Het
Nrp2	A	G	1: 62,777,576 (GRCm39)	D127G	probably damaging	Het
Otogl	A	T	10: 107,705,396 (GRCm39)	C644S	probably damaging	Het
Pabpc4	C	T	4: 123,184,060 (GRCm39)	T191I	probably damaging	Het
Paqr3	T	C	5: 97,247,455 (GRCm39)	T218A	probably benign	Het
Pcdh7	C	T	5: 57,879,361 (GRCm39)	S972L	possibly damaging	Het
Pcnx2	T	C	8: 126,489,590 (GRCm39)	H1668R	probably damaging	Het
Prb1b	T	G	6: 132,290,624 (GRCm39)	Y25S	unknown	Het
Ralb	A	G	1: 119,411,282 (GRCm39)	M19T	probably benign	Het
Rcan1	A	G	16: 92,190,384 (GRCm39)	I185T	probably benign	Het
Rnf38	A	T	4: 44,149,100 (GRCm39)	N82K	possibly damaging	Het
Rock1	T	A	18: 10,079,237 (GRCm39)	Q1077L	probably damaging	Het
Sesn3	C	T	9: 14,231,669 (GRCm39)	A200V	probably damaging	Het
Shh	T	C	5: 28,663,187 (GRCm39)	E327G	probably benign	Het
Shmt2	G	A	10: 127,354,686 (GRCm39)	A333V	probably damaging	Het
Slc15a2	T	A	16: 36,592,390 (GRCm39)	I256F	probably benign	Het
Sptbn5	T	C	2: 119,913,680 (GRCm39)		noncoding transcript	Het
Sst	A	G	16: 23,708,565 (GRCm39)	S89P	probably damaging	Het
Taf10	A	G	7: 105,392,614 (GRCm39)		probably benign	Het
Tas2r139	T	A	6: 42,118,689 (GRCm39)	W274R	probably damaging	Het
Tbc1d20	T	A	2: 152,150,114 (GRCm39)		probably benign	Het
Tbc1d5	A	G	17: 51,089,429 (GRCm39)	S584P	probably damaging	Het
Tcstv1a	T	C	13: 120,355,407 (GRCm39)	D75G	probably damaging	Het
Tex10	T	G	4: 48,452,039 (GRCm39)	T696P	possibly damaging	Het
Tgfbr1	T	C	4: 47,402,863 (GRCm39)	F206S	probably damaging	Het
Tmem241	A	T	18: 12,246,496 (GRCm39)	H51Q	probably benign	Het
Trim5	A	T	7: 103,926,015 (GRCm39)	V182D	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	A	G	18: 63,804,750 (GRCm39)	V248A	possibly damaging	Het
Ubr5	A	G	15: 38,041,817 (GRCm39)	V204A	probably benign	Het
Ugp2	C	T	11: 21,279,026 (GRCm39)	V387I	probably damaging	Het
Unc45b	G	A	11: 82,804,035 (GRCm39)	D71N	probably damaging	Het
Usp34	A	T	11: 23,270,727 (GRCm39)	Y37F	possibly damaging	Het
Zfp943	A	T	17: 22,212,104 (GRCm39)	I397F	probably damaging	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
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
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'- AGAGTCTTATGAAGCCATGCC -3'
(R):5'- AAGTGATGGGTTTGCAAGGC -3'

Sequencing Primer
(F):5'- CAGCACTGTCTCATAGCTATAGG -3'
(R):5'- GCAAGGCTTTGTCTGTCCC -3'

Posted On

2015-07-07