Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:A2ml1'

694559

Institutional Source

Beutler Lab

Gene Symbol

A2ml1

Ensembl Gene

ENSMUSG00000047228

Gene Name

alpha-2-macroglobulin like 1

Synonyms

BC048546, Ovos2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128516784-128558571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128536032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 720 (H720L)

Ref Sequence

ENSEMBL: ENSMUSP00000059426 (fasta)

Gene Model

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

AlphaFold

Q3UU35

Predicted Effect

probably benign
Transcript: ENSMUST00000060574
AA Change: H720L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059426
Gene: ENSMUSG00000047228
AA Change: H720L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,987,388 (GRCm39)	Y1225H	probably benign	Het
Adck1	C	A	12: 88,335,193 (GRCm39)	N26K	probably benign	Het
Adcy3	A	G	12: 4,245,208 (GRCm39)	D382G	probably damaging	Het
Ahi1	T	A	10: 20,876,488 (GRCm39)	C800S	probably benign	Het
Ahnak	G	T	19: 8,992,287 (GRCm39)	V4524L	probably benign	Het
Aoc1l1	C	A	6: 48,952,890 (GRCm39)	R272S	probably benign	Het
Apol11a	C	T	15: 77,397,778 (GRCm39)	A43V	probably benign	Het
Arid1a	T	C	4: 133,421,214 (GRCm39)	M479V	unknown	Het
Atp13a2	T	A	4: 140,724,056 (GRCm39)	C324S	probably damaging	Het
C2cd2	T	G	16: 97,677,486 (GRCm39)	T413P	probably damaging	Het
Cct5	A	C	15: 31,591,107 (GRCm39)	D531E		Het
Chst1	A	T	2: 92,444,523 (GRCm39)	I332F	probably damaging	Het
Col12a1	A	T	9: 79,527,344 (GRCm39)	V2662D	probably benign	Het
Cts3	A	G	13: 61,712,800 (GRCm39)	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,160,371 (GRCm39)		probably benign	Het
Dhx9	A	G	1: 153,336,826 (GRCm39)	I807T	probably damaging	Het
Exoc3l4	T	C	12: 111,388,586 (GRCm39)	L25P	probably benign	Het
Ggcx	T	A	6: 72,402,905 (GRCm39)	C288S	probably benign	Het
Gjb3	A	G	4: 127,220,140 (GRCm39)	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,417,574 (GRCm39)	S201P	probably benign	Het
Helz2	A	T	2: 180,881,848 (GRCm39)	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,662,684 (GRCm39)		probably null	Het
Ift70a1	A	T	2: 75,810,423 (GRCm39)	Y553*	probably null	Het
Il12a	C	T	3: 68,598,875 (GRCm39)	R19W	unknown	Het
Isoc1	C	T	18: 58,806,347 (GRCm39)	A219V	possibly damaging	Het
Jup	T	A	11: 100,269,124 (GRCm39)	T430S	probably benign	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Map4	A	T	9: 109,855,268 (GRCm39)	Q131L	probably damaging	Het
Mau2	T	A	8: 70,480,165 (GRCm39)	K314M	probably damaging	Het
Mga	A	G	2: 119,794,493 (GRCm39)	M2726V	probably benign	Het
Mgme1	G	A	2: 144,114,405 (GRCm39)		probably null	Het
Msrb2	A	G	2: 19,399,066 (GRCm39)	E143G	probably benign	Het
Muc5b	G	T	7: 141,411,350 (GRCm39)	C1432F	unknown	Het
Naglu	T	C	11: 100,961,940 (GRCm39)	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,109,193 (GRCm39)	Y103H	probably benign	Het
Nodal	A	G	10: 61,259,459 (GRCm39)	N299D	probably damaging	Het
Notch1	T	C	2: 26,349,587 (GRCm39)	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,448,948 (GRCm39)	S97A	probably benign	Het
Nuak1	A	T	10: 84,210,587 (GRCm39)	S500R	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,736,175 (GRCm39)	E104G	probably benign	Het
Or3a1b	C	T	11: 74,012,526 (GRCm39)	T137I	probably benign	Het
Or52e18	T	A	7: 104,609,204 (GRCm39)	H245L	probably damaging	Het
Palld	T	C	8: 62,330,107 (GRCm39)	T257A	probably benign	Het
Pcnx4	C	T	12: 72,603,043 (GRCm39)	P435L	probably damaging	Het
Piezo1	T	C	8: 123,208,753 (GRCm39)	T2538A	unknown	Het
Plagl1	T	C	10: 13,003,872 (GRCm39)	L380P	unknown	Het
Polrmt	G	T	10: 79,576,415 (GRCm39)	Q514K	probably benign	Het
Psg17	T	G	7: 18,553,851 (GRCm39)	D133A	probably benign	Het
Rab3b	G	A	4: 108,797,903 (GRCm39)	D185N	probably benign	Het
Ranbp2	T	A	10: 58,291,736 (GRCm39)	S248T	probably benign	Het
Rdh10	C	A	1: 16,199,430 (GRCm39)	A212D	probably damaging	Het
Rinl	A	G	7: 28,495,089 (GRCm39)	H154R		Het
Selenbp1	T	C	3: 94,851,414 (GRCm39)	M389T	probably benign	Het
Serpina1c	T	A	12: 103,862,400 (GRCm39)	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,282,746 (GRCm39)	S467T		Het
Sipa1l1	A	G	12: 82,443,335 (GRCm39)	D875G	probably benign	Het
Slc10a6	A	T	5: 103,776,800 (GRCm39)	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,247,290 (GRCm39)	I577V	possibly damaging	Het
Slc20a2	T	C	8: 23,030,447 (GRCm39)	F168L	probably benign	Het
Slc25a1	A	T	16: 17,745,108 (GRCm39)		probably null	Het
Slc5a12	A	G	2: 110,471,242 (GRCm39)	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,677,028 (GRCm39)	D42G	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Susd5	G	A	9: 113,925,289 (GRCm39)	G391R	probably damaging	Het
Sync	G	T	4: 129,187,618 (GRCm39)	A217S		Het
Tha1	T	A	11: 117,759,512 (GRCm39)	N326Y	probably damaging	Het
Tjp1	A	T	7: 64,952,564 (GRCm39)	F1590Y	probably benign	Het
Tle4	T	C	19: 14,445,583 (GRCm39)	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024 (GRCm39)	T2054A	probably damaging	Het
Ttll4	A	G	1: 74,718,949 (GRCm39)	K267E	probably benign	Het
Usp32	C	T	11: 84,913,118 (GRCm39)	G930D	probably damaging	Het
Vmn2r75	T	C	7: 85,813,447 (GRCm39)	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,104,028 (GRCm39)	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,397 (GRCm39)		probably benign	Het
Zfp459	C	T	13: 67,556,735 (GRCm39)	S116N	probably benign	Het
Zfp981	C	A	4: 146,622,410 (GRCm39)	T445N	possibly 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
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
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'- GCTTCACTAATTTATTGCCCAGGAA -3'
(R):5'- TGAGACAGTAAGAGCTCATCTAAAA -3'

Sequencing Primer
(F):5'- TGCCCAGGAATAAAAGTTAACAAATC -3'
(R):5'- GTCATTCTAGCTGACACGGCAAG -3'

Posted On

2022-01-20