Mutagenetix > Incidental Mutation

Incidental Mutation 'R1808:A2ml1'

203594

Institutional Source

Beutler Lab

Gene Symbol

A2ml1

Ensembl Gene

ENSMUSG00000047228

Gene Name

alpha-2-macroglobulin like 1

Synonyms

BC048546, Ovos2

MMRRC Submission

039837-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128516784-128558571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 128520262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1367 (D1367E)

Ref Sequence

ENSEMBL: ENSMUSP00000059426 (fasta)

Gene Model

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

AlphaFold

Q3UU35

Predicted Effect

probably damaging
Transcript: ENSMUST00000060574
AA Change: D1367E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228
AA Change: D1367E

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: ENSMUST00000203291

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	G	T	5: 146,121,691 (GRCm39)	Y69*	probably null	Het
2310011J03Rik	A	G	10: 80,156,015 (GRCm39)		probably null	Het
Adam6a	C	G	12: 113,508,334 (GRCm39)	L236V	probably benign	Het
Arf3	T	C	15: 98,638,954 (GRCm39)	N101S	probably benign	Het
Arhgap42	T	C	9: 9,180,051 (GRCm39)	E76G	probably damaging	Het
Atp2a1	A	G	7: 126,052,573 (GRCm39)	F382S	probably damaging	Het
Bud13	T	A	9: 46,199,705 (GRCm39)	F355L	probably benign	Het
C2	G	A	17: 35,083,508 (GRCm39)	P349S	probably damaging	Het
Cbl	C	A	9: 44,075,526 (GRCm39)	G373V	probably damaging	Het
Ccdc3	T	A	2: 5,142,896 (GRCm39)	L51Q	probably damaging	Het
Ccdc34	T	A	2: 109,874,601 (GRCm39)	M320K	probably benign	Het
Cntln	A	G	4: 85,015,000 (GRCm39)	E1097G	probably damaging	Het
Ctsc	A	C	7: 87,948,750 (GRCm39)	K195Q	possibly damaging	Het
Ctsf	C	T	19: 4,906,562 (GRCm39)	P163L	probably benign	Het
Dcxr	A	T	11: 120,616,438 (GRCm39)		probably null	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dnah8	T	C	17: 30,903,160 (GRCm39)	L933P	probably damaging	Het
Dtna	T	C	18: 23,702,697 (GRCm39)	L76P	probably damaging	Het
Fcgbp	T	A	7: 27,784,515 (GRCm39)	C192S	probably benign	Het
Galnt5	T	A	2: 57,916,137 (GRCm39)	D683E	probably benign	Het
Greb1l	G	A	18: 10,542,143 (GRCm39)	A1297T	probably benign	Het
Grik4	T	C	9: 42,540,322 (GRCm39)	N286S	probably benign	Het
Hrc	A	T	7: 44,986,202 (GRCm39)	E451V	probably damaging	Het
Hrh3	G	A	2: 179,741,577 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,455,695 (GRCm39)	I152T	probably damaging	Het
Irgm1	A	T	11: 48,757,259 (GRCm39)	V184D	probably damaging	Het
Itga5	C	T	15: 103,258,826 (GRCm39)	A791T	probably damaging	Het
Kcp	T	C	6: 29,505,654 (GRCm39)	T73A	probably benign	Het
Kidins220	A	G	12: 25,053,008 (GRCm39)	T433A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Kmt2d	T	C	15: 98,764,567 (GRCm39)	D12G	probably damaging	Het
Mms19	A	G	19: 41,954,698 (GRCm39)	S74P	probably damaging	Het
Myh1	G	T	11: 67,102,300 (GRCm39)	E864*	probably null	Het
Nek1	A	G	8: 61,469,264 (GRCm39)	D107G	probably damaging	Het
Npc1	T	C	18: 12,327,149 (GRCm39)	N1149D	probably damaging	Het
Or14j6	T	A	17: 38,214,661 (GRCm39)	S75T	probably damaging	Het
Or3a1b	C	A	11: 74,012,257 (GRCm39)	S47R	probably damaging	Het
Or4k36	T	C	2: 111,146,343 (GRCm39)	V173A	probably benign	Het
Or5p79	A	C	7: 108,221,817 (GRCm39)	K266T	possibly damaging	Het
Osbp	T	C	19: 11,948,142 (GRCm39)	S150P	probably damaging	Het
Paf1	T	C	7: 28,096,247 (GRCm39)	Y287H	probably damaging	Het
Pdgfrb	T	C	18: 61,201,174 (GRCm39)	V420A	probably benign	Het
Pdss1	G	T	2: 22,796,846 (GRCm39)	E120*	probably null	Het
Pink1	A	T	4: 138,044,630 (GRCm39)	V339E	probably damaging	Het
Pkn3	C	T	2: 29,969,663 (GRCm39)	R58C	probably damaging	Het
Pm20d1	G	A	1: 131,730,165 (GRCm39)	V235I	probably benign	Het
Ppp2r2a	A	G	14: 67,276,412 (GRCm39)	I31T	probably damaging	Het
Rbms3	T	C	9: 116,651,894 (GRCm39)	E152G	probably damaging	Het
Rfx1	A	C	8: 84,821,677 (GRCm39)	Q804H	probably damaging	Het
Rpe	G	T	1: 66,754,356 (GRCm39)	V143L	probably benign	Het
Sap30l	G	T	11: 57,700,771 (GRCm39)	V142L	probably benign	Het
Sh3tc1	T	C	5: 35,863,268 (GRCm39)	Q973R	probably benign	Het
Slc10a2	T	C	8: 5,154,856 (GRCm39)	T110A	probably damaging	Het
Snrnp200	A	T	2: 127,060,947 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,948 (GRCm39)		probably null	Het
Spaca3	T	A	11: 80,758,511 (GRCm39)	V158E	probably damaging	Het
Sprtn	C	A	8: 125,629,770 (GRCm39)	N354K	probably benign	Het
Stab1	T	A	14: 30,863,101 (GRCm39)	Y2166F	possibly damaging	Het
Tmem106c	G	A	15: 97,866,548 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,918,168 (GRCm39)	S1248P	probably damaging	Het
Tshr	T	C	12: 91,504,090 (GRCm39)	F343L	probably benign	Het
Ttn	C	A	2: 76,555,698 (GRCm39)	A30436S	probably damaging	Het
Ubxn2a	A	T	12: 4,935,839 (GRCm39)	M68K	probably benign	Het
Ucp2	T	C	7: 100,148,021 (GRCm39)	V238A	probably damaging	Het
Urgcp	C	A	11: 5,667,242 (GRCm39)	L365F	probably damaging	Het
Vezt	A	T	10: 93,826,026 (GRCm39)	D328E	probably damaging	Het
Vmn1r168	G	T	7: 23,240,184 (GRCm39)	V14L	probably benign	Het
Vps13b	T	C	15: 35,792,205 (GRCm39)	F2158L	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTGGGCATAATGACTCTGC -3'
(R):5'- CCTTTCTAGTTTATGGCAGCG -3'

Sequencing Primer
(F):5'- CAGTGGGCATAATGACTCTGCATTTC -3'
(R):5'- GCTCCAGACTGCAAGCTTGTTAG -3'

Posted On

2014-06-23