Mutagenetix > Incidental Mutation

Incidental Mutation 'R6793:A2ml1'

532693

Institutional Source

Beutler Lab

Gene Symbol

A2ml1

Ensembl Gene

ENSMUSG00000047228

Gene Name

alpha-2-macroglobulin like 1

Synonyms

BC048546, Ovos2

MMRRC Submission

044906-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6793 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128516784-128558571 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 128523292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1215 (Q1215*)

Ref Sequence

ENSEMBL: ENSMUSP00000059426 (fasta)

Gene Model

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

AlphaFold

Q3UU35

Predicted Effect

probably null
Transcript: ENSMUST00000060574
AA Change: Q1215*

SMART Domains

Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228
AA Change: Q1215*

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	A	T	9: 124,058,052 (GRCm39)	N19K	possibly damaging	Het
Abraxas2	T	C	7: 132,476,563 (GRCm39)	I98T	probably damaging	Het
Ankrd17	G	A	5: 90,413,371 (GRCm39)	T1181I	probably damaging	Het
Bsn	T	A	9: 107,991,814 (GRCm39)	K1313*	probably null	Het
Chst4	A	T	8: 110,756,699 (GRCm39)	V388D	probably damaging	Het
Ckap5	T	G	2: 91,399,054 (GRCm39)	W613G	probably damaging	Het
Clock	GACTCACT	GACT	5: 76,384,967 (GRCm39)		probably null	Het
Enpp1	T	C	10: 24,531,723 (GRCm39)	D520G	probably damaging	Het
Epha3	T	C	16: 63,593,818 (GRCm39)	N90S	probably benign	Het
Esp36	A	T	17: 38,728,005 (GRCm39)	M92K	unknown	Het
Fam135a	A	G	1: 24,107,006 (GRCm39)	V44A	possibly damaging	Het
Fndc8	T	C	11: 82,788,412 (GRCm39)	S81P	probably damaging	Het
Fsip2	T	G	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gabrr1	T	G	4: 33,162,712 (GRCm39)	V426G	possibly damaging	Het
Igkv6-15	T	A	6: 70,383,976 (GRCm39)	M1L	probably benign	Het
Lrrc36	A	G	8: 106,185,065 (GRCm39)	E614G	probably damaging	Het
Man1a2	A	T	3: 100,539,913 (GRCm39)	I176K	possibly damaging	Het
Mapk4	T	A	18: 74,063,539 (GRCm39)	N561I	probably damaging	Het
Med15	A	T	16: 17,470,567 (GRCm39)		probably benign	Het
Mfsd2a	A	G	4: 122,844,498 (GRCm39)	V258A	probably benign	Het
Micu3	G	A	8: 40,833,736 (GRCm39)	V457I	probably damaging	Het
Mov10l1	T	A	15: 88,880,387 (GRCm39)	V291E	possibly damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Ncbp1	T	C	4: 46,157,827 (GRCm39)	I355T	probably damaging	Het
Or51s1	A	G	7: 102,558,935 (GRCm39)	V37A	probably benign	Het
Or52ad1	T	C	7: 102,995,473 (GRCm39)	T221A	probably benign	Het
Otub2	A	G	12: 103,355,278 (GRCm39)		probably benign	Het
Pcdh15	T	C	10: 74,466,971 (GRCm39)	S1666P	probably damaging	Het
Pcdha12	T	A	18: 37,155,234 (GRCm39)	V651E	probably damaging	Het
Pomt1	T	C	2: 32,132,961 (GRCm39)	F186L	probably damaging	Het
Prl3d3	G	A	13: 27,345,044 (GRCm39)	A140T	probably benign	Het
Ptprn	G	A	1: 75,234,786 (GRCm39)	T267I	probably benign	Het
Qrfprl	C	T	6: 65,358,405 (GRCm39)	A43V	probably benign	Het
Rhbdd2	T	A	5: 135,665,008 (GRCm39)	I113N	probably damaging	Het
Saraf	T	A	8: 34,635,767 (GRCm39)		probably null	Het
Slc41a2	T	C	10: 83,137,022 (GRCm39)		probably null	Het
Slc47a1	A	G	11: 61,250,229 (GRCm39)	V352A	probably benign	Het
Tmem237	T	C	1: 59,153,375 (GRCm39)	T49A	probably benign	Het
Tmem273	A	C	14: 32,528,778 (GRCm39)	I48L	probably benign	Het
Tmprss11e	C	T	5: 86,863,414 (GRCm39)	C217Y	probably damaging	Het
Ubfd1	T	C	7: 121,667,103 (GRCm39)	V140A	probably benign	Het
Utrn	A	G	10: 12,516,669 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,574,844 (GRCm39)	I1028F	possibly damaging	Het
Virma	C	T	4: 11,539,968 (GRCm39)	T1479M	probably damaging	Het
Vwa7	G	T	17: 35,243,867 (GRCm39)	R767L	probably benign	Het
Wdfy3	A	T	5: 102,065,297 (GRCm39)	Y1290*	probably null	Het
Zfp970	G	A	2: 177,167,338 (GRCm39)	C304Y	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
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
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'- AATGCTTTTCACCTCAGAAGC -3'
(R):5'- CCTCTGAGTGGGTAACTTATAGG -3'

Sequencing Primer
(F):5'- ACCTCAGAAGCTCTGTTATTGTGAC -3'
(R):5'- AGCTTGTTTTAAGGACTTGTGGAAAC -3'

Posted On

2018-08-29