Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Adam6b'

2178

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam6b

Ensembl Gene

ENSMUSG00000051804

Gene Name

a disintegrin and metallopeptidase domain 6B

Synonyms

4930523C11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

113489511-113492057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113491393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 610 (R610H)

Ref Sequence

ENSEMBL: ENSMUSP00000065529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063317]

AlphaFold

Q6IMH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000063317
AA Change: R610H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: R610H

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	30	167	1.1e-16	PFAM
Pfam:Reprolysin	223	407	1.1e-14	PFAM
DISIN	427	502	9.2e-33	SMART
ACR	503	640	2.74e-60	SMART
transmembrane domain	704	726	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Adam6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00800:Adam6b	APN	12	113490442	missense	probably benign	0.24
IGL01456:Adam6b	APN	12	113491463	missense	probably benign	0.30
IGL02232:Adam6b	APN	12	113491144	missense	probably benign	0.06
IGL03039:Adam6b	APN	12	113490882	missense	probably damaging	1.00
IGL03399:Adam6b	APN	12	113491108	missense	probably damaging	0.97
IGL03412:Adam6b	APN	12	113491770	nonsense	probably null
R0234:Adam6b	UTSW	12	113490610	missense	probably damaging	0.98
R0234:Adam6b	UTSW	12	113490610	missense	probably damaging	0.98
R0373:Adam6b	UTSW	12	113490655	missense	probably benign	0.15
R0402:Adam6b	UTSW	12	113489995	missense	probably damaging	0.96
R0420:Adam6b	UTSW	12	113489994	missense	probably benign	0.02
R0573:Adam6b	UTSW	12	113491658	missense	possibly damaging	0.90
R0884:Adam6b	UTSW	12	113490995	missense	probably damaging	1.00
R1489:Adam6b	UTSW	12	113491451	missense	probably benign	0.15
R1542:Adam6b	UTSW	12	113490939	missense	possibly damaging	0.53
R1591:Adam6b	UTSW	12	113489832	missense	probably benign	0.07
R1596:Adam6b	UTSW	12	113491026	missense	probably damaging	1.00
R1675:Adam6b	UTSW	12	113491044	missense	probably benign	0.00
R1699:Adam6b	UTSW	12	113490585	missense	probably benign	0.02
R1818:Adam6b	UTSW	12	113491256	missense	probably benign	0.15
R1829:Adam6b	UTSW	12	113489925	missense	probably damaging	1.00
R1851:Adam6b	UTSW	12	113491822	missense	probably benign	0.44
R1955:Adam6b	UTSW	12	113491816	missense	probably benign	0.16
R2040:Adam6b	UTSW	12	113490744	missense	probably benign	0.34
R3820:Adam6b	UTSW	12	113490364	missense	probably benign	0.38
R4112:Adam6b	UTSW	12	113489636	missense	possibly damaging	0.85
R4434:Adam6b	UTSW	12	113490661	missense	probably damaging	1.00
R4435:Adam6b	UTSW	12	113490661	missense	probably damaging	1.00
R4437:Adam6b	UTSW	12	113490661	missense	probably damaging	1.00
R4438:Adam6b	UTSW	12	113490661	missense	probably damaging	1.00
R4509:Adam6b	UTSW	12	113490352	missense	probably benign	0.02
R5034:Adam6b	UTSW	12	113490927	missense	probably damaging	1.00
R5316:Adam6b	UTSW	12	113491393	missense	probably damaging	1.00
R5330:Adam6b	UTSW	12	113490580	missense	possibly damaging	0.45
R5331:Adam6b	UTSW	12	113490580	missense	possibly damaging	0.45
R5604:Adam6b	UTSW	12	113490800	nonsense	probably null
R5698:Adam6b	UTSW	12	113491463	missense	probably benign	0.30
R5877:Adam6b	UTSW	12	113490202	missense	probably damaging	1.00
R6235:Adam6b	UTSW	12	113491710	missense	probably benign
R6254:Adam6b	UTSW	12	113489570	missense	probably damaging	0.99
R6371:Adam6b	UTSW	12	113490274	missense	probably damaging	0.99
R6617:Adam6b	UTSW	12	113490532	missense	possibly damaging	0.78
R6768:Adam6b	UTSW	12	113490243	missense	probably benign	0.01
R7002:Adam6b	UTSW	12	113489707	nonsense	probably null
R7003:Adam6b	UTSW	12	113490042	nonsense	probably null
R7049:Adam6b	UTSW	12	113490502	missense	probably damaging	0.99
R7313:Adam6b	UTSW	12	113491134	missense	probably benign	0.00
R7372:Adam6b	UTSW	12	113490164	missense	probably benign	0.24
R7684:Adam6b	UTSW	12	113491576	nonsense	probably null
R7777:Adam6b	UTSW	12	113490138	missense	possibly damaging	0.93
R7781:Adam6b	UTSW	12	113491342	missense	probably damaging	1.00
R7857:Adam6b	UTSW	12	113490484	missense	probably benign	0.09
R8196:Adam6b	UTSW	12	113490467	missense	probably benign	0.19
R8423:Adam6b	UTSW	12	113490910	missense	possibly damaging	0.77
R8680:Adam6b	UTSW	12	113490751	missense	probably benign	0.05
R8762:Adam6b	UTSW	12	113489607	missense	probably damaging	0.98
R8792:Adam6b	UTSW	12	113491690	missense	possibly damaging	0.75
R8806:Adam6b	UTSW	12	113491798	missense	possibly damaging	0.90
R8880:Adam6b	UTSW	12	113491144	missense	probably benign
R8977:Adam6b	UTSW	12	113490376	missense	probably benign	0.02
R8987:Adam6b	UTSW	12	113491128	missense	probably damaging	1.00
R9101:Adam6b	UTSW	12	113491756	missense	probably benign	0.22
R9103:Adam6b	UTSW	12	113490938	nonsense	probably null
R9334:Adam6b	UTSW	12	113491148	missense	probably damaging	1.00
R9641:Adam6b	UTSW	12	113490556	missense	probably benign
R9683:Adam6b	UTSW	12	113490556	missense	probably benign
R9796:Adam6b	UTSW	12	113490652	missense	probably damaging	1.00
RF012:Adam6b	UTSW	12	113489932	missense	probably damaging	1.00
RF022:Adam6b	UTSW	12	113491669	missense	possibly damaging	0.90
T0722:Adam6b	UTSW	12	113489577	missense	possibly damaging	0.91
T0722:Adam6b	UTSW	12	113491268	missense	probably benign	0.11

Posted On

2011-12-09