Mutagenetix > Incidental Mutation

Incidental Mutation 'R8970:A2ml1'

683009

Institutional Source

Beutler Lab

Gene Symbol

A2ml1

Ensembl Gene

ENSMUSG00000047228

Gene Name

alpha-2-macroglobulin like 1

Synonyms

BC048546, Ovos2

MMRRC Submission

068804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8970 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128516784-128558571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128545726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 467 (V467A)

Ref Sequence

ENSEMBL: ENSMUSP00000059426 (fasta)

Gene Model

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

AlphaFold

Q3UU35

Predicted Effect

probably damaging
Transcript: ENSMUST00000060574
AA Change: V467A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228
AA Change: V467A

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,335,728 (GRCm39)	V2113A	probably benign	Het
Adam10	A	G	9: 70,655,458 (GRCm39)	N309D	probably benign	Het
Adcy1	T	A	11: 7,099,983 (GRCm39)	W698R	probably benign	Het
Adnp	T	C	2: 168,031,290 (GRCm39)	N7S	possibly damaging	Het
Ankar	A	G	1: 72,691,496 (GRCm39)		probably null	Het
Ankrd34b	T	A	13: 92,575,590 (GRCm39)	I274K	probably benign	Het
Apela	A	T	8: 65,489,601 (GRCm39)	L6H	unknown	Het
Ash1l	T	C	3: 88,976,307 (GRCm39)	I2629T	probably benign	Het
Auts2	C	T	5: 132,287,791 (GRCm39)	R64K	possibly damaging	Het
Bms1	A	G	6: 118,369,292 (GRCm39)	V1003A	possibly damaging	Het
C2cd3	T	C	7: 100,068,971 (GRCm39)	V555A		Het
C2cd6	T	A	1: 59,108,895 (GRCm39)	H252L	possibly damaging	Het
Capn3	G	T	2: 120,294,566 (GRCm39)	K71N	possibly damaging	Het
Chct1	A	G	11: 85,069,246 (GRCm39)	E198G	probably benign	Het
Clec2l	C	A	6: 38,657,122 (GRCm39)	T195K	possibly damaging	Het
Col27a1	T	C	4: 63,134,105 (GRCm39)	S15P	unknown	Het
Coro2b	T	C	9: 62,333,809 (GRCm39)		probably benign	Het
Crocc2	A	T	1: 93,116,687 (GRCm39)	T233S	probably benign	Het
Ddb1	A	G	19: 10,585,808 (GRCm39)	Q174R	probably benign	Het
Denr	C	T	5: 124,055,279 (GRCm39)	P48L	probably damaging	Het
Dusp26	A	G	8: 31,584,232 (GRCm39)	Y113C	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Evi5l	A	G	8: 4,236,154 (GRCm39)		probably benign	Het
Fgf2	G	T	3: 37,458,767 (GRCm39)	V96F	probably benign	Het
Gpr139	A	G	7: 118,744,034 (GRCm39)	Y184H	probably damaging	Het
Gtf3c1	A	C	7: 125,272,227 (GRCm39)		probably benign	Het
Gucy1b2	A	G	14: 62,656,664 (GRCm39)	V231A	possibly damaging	Het
Gucy2g	T	C	19: 55,191,478 (GRCm39)	E991G	possibly damaging	Het
Gvin1	A	T	7: 105,762,647 (GRCm39)	H607Q	probably damaging	Het
Hal	T	C	10: 93,325,036 (GRCm39)	V15A	probably damaging	Het
Hes3	A	G	4: 152,376,036 (GRCm39)		probably null	Het
Il11	A	G	7: 4,779,181 (GRCm39)	L72P	probably damaging	Het
Iqsec3	T	A	6: 121,366,528 (GRCm39)	I785F	probably damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Lrpprc	T	A	17: 85,074,483 (GRCm39)	T475S	probably damaging	Het
Lrrc63	T	A	14: 75,362,631 (GRCm39)	T300S	unknown	Het
Lsamp	A	T	16: 41,994,528 (GRCm39)	I331F	possibly damaging	Het
Ltn1	A	T	16: 87,212,926 (GRCm39)	I545K	probably benign	Het
Mab21l4	G	C	1: 93,087,533 (GRCm39)	P107A	probably benign	Het
Med13l	G	A	5: 118,883,164 (GRCm39)	R1341H	probably damaging	Het
Msh4	T	A	3: 153,575,369 (GRCm39)	K669*	probably null	Het
Myo10	T	A	15: 25,803,467 (GRCm39)	L1558H	possibly damaging	Het
Ncbp1	G	A	4: 46,170,023 (GRCm39)	V699M	probably damaging	Het
Or12k8	T	A	2: 36,975,478 (GRCm39)	Y94F	probably benign	Het
Or56b1b	A	G	7: 108,164,997 (GRCm39)	S2P	probably benign	Het
Or5b114-ps1	T	G	19: 13,353,117 (GRCm39)	S264A	unknown	Het
Or5b99	T	A	19: 12,976,353 (GRCm39)	M1K	probably null	Het
Parpbp	G	A	10: 87,962,186 (GRCm39)	R165W	probably damaging	Het
Pcdhgb7	T	A	18: 37,885,631 (GRCm39)	M267K	probably benign	Het
Pitx3	T	A	19: 46,125,540 (GRCm39)	H68L	possibly damaging	Het
Ppfia4	A	G	1: 134,252,289 (GRCm39)	L395P	probably damaging	Het
Pramel42	T	C	5: 94,685,645 (GRCm39)	V435A	probably benign	Het
Ptprh	T	C	7: 4,583,944 (GRCm39)	D216G	possibly damaging	Het
Ptprs	A	G	17: 56,730,353 (GRCm39)	S1174P	possibly damaging	Het
Shf	A	G	2: 122,187,654 (GRCm39)	S51P	probably benign	Het
Sinhcaf	A	T	6: 148,834,624 (GRCm39)	F2I	probably damaging	Het
Slc19a3	A	T	1: 83,000,822 (GRCm39)	L65Q	probably damaging	Het
Srgap2	G	A	1: 131,226,104 (GRCm39)	L390F		Het
Srpk1	T	C	17: 28,818,493 (GRCm39)	T448A	probably benign	Het
Stat5a	A	G	11: 100,771,353 (GRCm39)	D612G	probably benign	Het
Supt4a	A	T	11: 87,633,645 (GRCm39)	E67V	probably benign	Het
Tango6	T	A	8: 107,415,871 (GRCm39)	C231S	probably damaging	Het
Th	A	G	7: 142,446,796 (GRCm39)	L490P	probably damaging	Het
Tpcn1	C	T	5: 120,682,518 (GRCm39)	G497S	probably damaging	Het
Trim10	A	T	17: 37,184,168 (GRCm39)	I254F	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r124	G	T	17: 18,294,439 (GRCm39)	R842L	probably benign	Het
Vmn2r56	T	C	7: 12,428,632 (GRCm39)	R545G	probably damaging	Het
Vmn2r84	T	C	10: 130,222,244 (GRCm39)	T659A	probably damaging	Het
Vps13c	T	C	9: 67,852,803 (GRCm39)	M2361T	probably benign	Het
Zfp217	T	C	2: 169,956,997 (GRCm39)	D667G	possibly damaging	Het
Zfp952	T	G	17: 33,221,810 (GRCm39)	C96W	probably benign	Het
Zfp959	A	G	17: 56,204,836 (GRCm39)	Q291R	possibly damaging	Het
Zscan4-ps3	T	C	7: 11,344,414 (GRCm39)	V124A	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
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
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
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'- GGGACCACTTTGCAAGCTTG -3'
(R):5'- TTGTGTCCAGTAGCATTCCC -3'

Sequencing Primer
(F):5'- TTCTTCACGGTGCCAGGAGTAC -3'
(R):5'- GAGATGTCCATTGTTCTAAAGCC -3'

Posted On

2021-10-11