Mutagenetix > Incidental Mutation

Incidental Mutation 'R2062:A2ml1'

228757

Institutional Source

Beutler Lab

Gene Symbol

A2ml1

Ensembl Gene

ENSMUSG00000047228

Gene Name

alpha-2-macroglobulin like 1

Synonyms

BC048546, Ovos2

MMRRC Submission

040067-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128516784-128558571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128529271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 957 (M957K)

Ref Sequence

ENSEMBL: ENSMUSP00000059426 (fasta)

Gene Model

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

AlphaFold

Q3UU35

Predicted Effect

probably benign
Transcript: ENSMUST00000060574
AA Change: M957K

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228
AA Change: M957K

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: ENSMUST00000205167

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (84/85)

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
Adam7	C	A	14: 68,742,610 (GRCm39)	V668F	probably benign	Het
Adcy7	T	G	8: 89,038,902 (GRCm39)	L306R	probably damaging	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Ano7	T	C	1: 93,318,035 (GRCm39)	V249A	probably benign	Het
Aox1	T	C	1: 58,098,351 (GRCm39)		probably null	Het
Asah2	A	T	19: 32,002,274 (GRCm39)	V290E	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Atxn2l	T	A	7: 126,095,038 (GRCm39)	K421N	probably damaging	Het
Cars2	T	C	8: 11,597,747 (GRCm39)	I110V	probably damaging	Het
Ccdc74a	A	G	16: 17,467,890 (GRCm39)	N249S	probably benign	Het
Cenpe	T	C	3: 134,928,082 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cnep1r1	G	T	8: 88,845,445 (GRCm39)		probably benign	Het
Cyp2d37-ps	C	T	15: 82,574,289 (GRCm39)		noncoding transcript	Het
Cyp3a25	A	G	5: 145,923,779 (GRCm39)		probably benign	Het
Dis3l	G	T	9: 64,246,855 (GRCm39)	Q67K	probably benign	Het
Dnah1	A	G	14: 30,993,086 (GRCm39)	V2936A	probably damaging	Het
Dnah5	C	T	15: 28,366,416 (GRCm39)	R2710C	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Dvl3	G	A	16: 20,345,101 (GRCm39)	S361N	probably benign	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Eif2ak3	T	C	6: 70,881,181 (GRCm39)	V1085A	probably benign	Het
Eif3b	T	C	5: 140,412,208 (GRCm39)	Y226H	probably damaging	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Ercc1	A	G	7: 19,088,295 (GRCm39)	*37W	probably null	Het
Evi2a	G	A	11: 79,418,593 (GRCm39)	Q6*	probably null	Het
Faah	C	T	4: 115,855,770 (GRCm39)	V552M	probably damaging	Het
Fat1	T	A	8: 45,477,369 (GRCm39)	N2138K	probably damaging	Het
Fat1	T	A	8: 45,479,741 (GRCm39)	V2929E	probably damaging	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm6327	A	T	16: 12,578,979 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Hspg2	A	T	4: 137,286,678 (GRCm39)	T3666S	possibly damaging	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Iqgap1	G	A	7: 80,373,727 (GRCm39)	Q1421*	probably null	Het
Itga3	T	A	11: 94,944,902 (GRCm39)	Q802L	possibly damaging	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Lztr1	T	C	16: 17,327,534 (GRCm39)	V79A	probably damaging	Het
Mast4	C	T	13: 102,895,601 (GRCm39)	E736K	probably benign	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Myof	A	G	19: 37,904,194 (GRCm39)	V2A	possibly damaging	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Nav3	G	A	10: 109,555,882 (GRCm39)	T1683M	probably damaging	Het
Nbea	A	G	3: 55,993,578 (GRCm39)		probably benign	Het
Nebl	A	T	2: 17,401,932 (GRCm39)	M427K	probably benign	Het
Ngdn	T	C	14: 55,259,564 (GRCm39)	V205A	possibly damaging	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or10j3b	T	C	1: 173,043,277 (GRCm39)	F20L	probably benign	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2w3	G	T	11: 58,556,808 (GRCm39)	C141F	probably damaging	Het
Or5m9	A	G	2: 85,877,299 (GRCm39)	T158A	probably damaging	Het
Or6c205	T	A	10: 129,087,001 (GRCm39)	Y199*	probably null	Het
Park7	T	C	4: 150,989,732 (GRCm39)	N76S	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pkhd1	A	G	1: 20,271,559 (GRCm39)	I2998T	probably damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Ppard	A	G	17: 28,518,663 (GRCm39)	H388R	probably damaging	Het
Psma1	A	G	7: 113,869,001 (GRCm39)	S142P	possibly damaging	Het
Pth2r	T	C	1: 65,382,721 (GRCm39)	I158T	probably damaging	Het
Rbl2	C	A	8: 91,833,367 (GRCm39)	P714Q	probably damaging	Het
Rexo2	A	T	9: 48,385,813 (GRCm39)	S104T	possibly damaging	Het
Sema5a	T	C	15: 32,609,363 (GRCm39)		probably benign	Het
Spmip10	C	T	18: 56,721,535 (GRCm39)	Q25*	probably null	Het
Sun2	A	G	15: 79,622,852 (GRCm39)	L109P	probably damaging	Het
Tdg	A	G	10: 82,477,368 (GRCm39)	T116A	probably benign	Het
Terb1	A	T	8: 105,195,380 (GRCm39)	M587K	possibly damaging	Het
Tmcc1	C	T	6: 116,020,019 (GRCm39)	V118M	probably benign	Het
Tnfsf11	T	A	14: 78,516,362 (GRCm39)	N202I	probably damaging	Het
Togaram2	T	C	17: 72,023,360 (GRCm39)	S759P	probably benign	Het
Ttc7b	G	A	12: 100,291,948 (GRCm39)	A208V	probably damaging	Het
Tti2	T	C	8: 31,644,338 (GRCm39)		probably benign	Het
Wnk1	T	C	6: 119,905,118 (GRCm39)		probably null	Het
Zfyve26	T	C	12: 79,330,806 (GRCm39)		probably null	Het
Zfyve28	T	C	5: 34,391,681 (GRCm39)	M157V	probably null	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	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
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'- TCACCTTTGTGGGCGGAAAC -3'
(R):5'- AGAGCCACCTCCTTCTAGAG -3'

Sequencing Primer
(F):5'- ACGACTTAACCCTCTCACCATTGG -3'
(R):5'- TGTAGTGTTCACAAAGGCCC -3'

Posted On

2014-09-17