Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01456:Adam6b'

84778

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: 0.057) question?

Stock #

IGL01456

Quality Score

Status

Chromosome

Chromosomal Location

113453185-113455455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113455083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 633 (D633E)

Ref Sequence

ENSEMBL: ENSMUSP00000065529 (fasta)

Gene Model

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

AlphaFold

Q6IMH7

Predicted Effect

probably benign
Transcript: ENSMUST00000063317
AA Change: D633E

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: D633E

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,252,595 (GRCm39)	C242R	probably damaging	Het
Ap5z1	T	C	5: 142,453,791 (GRCm39)	L175P	probably damaging	Het
Arid1b	A	G	17: 5,341,510 (GRCm39)	E938G	probably damaging	Het
Arid4a	A	G	12: 71,114,036 (GRCm39)	N208D	probably benign	Het
Atr	A	G	9: 95,832,618 (GRCm39)	H2556R	possibly damaging	Het
Cald1	A	T	6: 34,741,931 (GRCm39)	D438V	probably damaging	Het
Dcbld2	C	T	16: 58,229,236 (GRCm39)	P40S	possibly damaging	Het
Dock8	G	A	19: 25,096,863 (GRCm39)	M590I	possibly damaging	Het
Gm1818	A	T	12: 48,602,583 (GRCm39)		noncoding transcript	Het
Hace1	A	G	10: 45,586,094 (GRCm39)		probably benign	Het
Igkv10-96	A	G	6: 68,609,086 (GRCm39)	Y70H	probably benign	Het
Kdm2a	G	T	19: 4,401,783 (GRCm39)	H200Q	probably damaging	Het
Ldha	A	G	7: 46,499,602 (GRCm39)	D111G	possibly damaging	Het
Map7	A	G	10: 20,149,550 (GRCm39)	E567G	unknown	Het
Nbeal1	G	T	1: 60,269,787 (GRCm39)	L375F	probably damaging	Het
Nectin3	T	C	16: 46,279,216 (GRCm39)	E254G	probably benign	Het
Nlrp4b	A	T	7: 10,448,150 (GRCm39)	I118F	probably benign	Het
Pkhd1	A	T	1: 20,269,683 (GRCm39)	V3287D	probably damaging	Het
Ptpre	T	G	7: 135,271,531 (GRCm39)	V375G	probably damaging	Het
Rabgap1	A	G	2: 37,431,187 (GRCm39)	E746G	probably damaging	Het
Sh2b2	C	T	5: 136,253,321 (GRCm39)	C311Y	probably damaging	Het
Skor1	G	A	9: 63,052,772 (GRCm39)	T399I	probably damaging	Het
Sptbn2	A	G	19: 4,796,777 (GRCm39)	T1792A	probably damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tln1	G	A	4: 43,543,432 (GRCm39)		probably benign	Het
Tmc7	C	A	7: 118,146,533 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Tpte	A	G	8: 22,835,068 (GRCm39)		probably benign	Het
Unc13a	G	A	8: 72,097,211 (GRCm39)	R1228W	probably damaging	Het
Vipr1	C	T	9: 121,494,244 (GRCm39)	T275M	probably damaging	Het
Vmn1r177	G	T	7: 23,565,753 (GRCm39)	P41Q	possibly damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het

Other mutations in Adam6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Adam6b	APN	12	113,455,013 (GRCm39)	missense	probably damaging	1.00
IGL00800:Adam6b	APN	12	113,454,062 (GRCm39)	missense	probably benign	0.24
IGL02232:Adam6b	APN	12	113,454,764 (GRCm39)	missense	probably benign	0.06
IGL03039:Adam6b	APN	12	113,454,502 (GRCm39)	missense	probably damaging	1.00
IGL03399:Adam6b	APN	12	113,454,728 (GRCm39)	missense	probably damaging	0.97
IGL03412:Adam6b	APN	12	113,455,390 (GRCm39)	nonsense	probably null
R0234:Adam6b	UTSW	12	113,454,230 (GRCm39)	missense	probably damaging	0.98
R0234:Adam6b	UTSW	12	113,454,230 (GRCm39)	missense	probably damaging	0.98
R0373:Adam6b	UTSW	12	113,454,275 (GRCm39)	missense	probably benign	0.15
R0402:Adam6b	UTSW	12	113,453,615 (GRCm39)	missense	probably damaging	0.96
R0420:Adam6b	UTSW	12	113,453,614 (GRCm39)	missense	probably benign	0.02
R0573:Adam6b	UTSW	12	113,455,278 (GRCm39)	missense	possibly damaging	0.90
R0884:Adam6b	UTSW	12	113,454,615 (GRCm39)	missense	probably damaging	1.00
R1489:Adam6b	UTSW	12	113,455,071 (GRCm39)	missense	probably benign	0.15
R1542:Adam6b	UTSW	12	113,454,559 (GRCm39)	missense	possibly damaging	0.53
R1591:Adam6b	UTSW	12	113,453,452 (GRCm39)	missense	probably benign	0.07
R1596:Adam6b	UTSW	12	113,454,646 (GRCm39)	missense	probably damaging	1.00
R1675:Adam6b	UTSW	12	113,454,664 (GRCm39)	missense	probably benign	0.00
R1699:Adam6b	UTSW	12	113,454,205 (GRCm39)	missense	probably benign	0.02
R1818:Adam6b	UTSW	12	113,454,876 (GRCm39)	missense	probably benign	0.15
R1829:Adam6b	UTSW	12	113,453,545 (GRCm39)	missense	probably damaging	1.00
R1851:Adam6b	UTSW	12	113,455,442 (GRCm39)	missense	probably benign	0.44
R1955:Adam6b	UTSW	12	113,455,436 (GRCm39)	missense	probably benign	0.16
R2040:Adam6b	UTSW	12	113,454,364 (GRCm39)	missense	probably benign	0.34
R3820:Adam6b	UTSW	12	113,453,984 (GRCm39)	missense	probably benign	0.38
R4112:Adam6b	UTSW	12	113,453,256 (GRCm39)	missense	possibly damaging	0.85
R4434:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4435:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4437:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4438:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4509:Adam6b	UTSW	12	113,453,972 (GRCm39)	missense	probably benign	0.02
R5034:Adam6b	UTSW	12	113,454,547 (GRCm39)	missense	probably damaging	1.00
R5316:Adam6b	UTSW	12	113,455,013 (GRCm39)	missense	probably damaging	1.00
R5330:Adam6b	UTSW	12	113,454,200 (GRCm39)	missense	possibly damaging	0.45
R5331:Adam6b	UTSW	12	113,454,200 (GRCm39)	missense	possibly damaging	0.45
R5604:Adam6b	UTSW	12	113,454,420 (GRCm39)	nonsense	probably null
R5698:Adam6b	UTSW	12	113,455,083 (GRCm39)	missense	probably benign	0.30
R5877:Adam6b	UTSW	12	113,453,822 (GRCm39)	missense	probably damaging	1.00
R6235:Adam6b	UTSW	12	113,455,330 (GRCm39)	missense	probably benign
R6254:Adam6b	UTSW	12	113,453,190 (GRCm39)	missense	probably damaging	0.99
R6371:Adam6b	UTSW	12	113,453,894 (GRCm39)	missense	probably damaging	0.99
R6617:Adam6b	UTSW	12	113,454,152 (GRCm39)	missense	possibly damaging	0.78
R6768:Adam6b	UTSW	12	113,453,863 (GRCm39)	missense	probably benign	0.01
R7002:Adam6b	UTSW	12	113,453,327 (GRCm39)	nonsense	probably null
R7003:Adam6b	UTSW	12	113,453,662 (GRCm39)	nonsense	probably null
R7049:Adam6b	UTSW	12	113,454,122 (GRCm39)	missense	probably damaging	0.99
R7313:Adam6b	UTSW	12	113,454,754 (GRCm39)	missense	probably benign	0.00
R7372:Adam6b	UTSW	12	113,453,784 (GRCm39)	missense	probably benign	0.24
R7684:Adam6b	UTSW	12	113,455,196 (GRCm39)	nonsense	probably null
R7777:Adam6b	UTSW	12	113,453,758 (GRCm39)	missense	possibly damaging	0.93
R7781:Adam6b	UTSW	12	113,454,962 (GRCm39)	missense	probably damaging	1.00
R7857:Adam6b	UTSW	12	113,454,104 (GRCm39)	missense	probably benign	0.09
R8196:Adam6b	UTSW	12	113,454,087 (GRCm39)	missense	probably benign	0.19
R8423:Adam6b	UTSW	12	113,454,530 (GRCm39)	missense	possibly damaging	0.77
R8680:Adam6b	UTSW	12	113,454,371 (GRCm39)	missense	probably benign	0.05
R8762:Adam6b	UTSW	12	113,453,227 (GRCm39)	missense	probably damaging	0.98
R8792:Adam6b	UTSW	12	113,455,310 (GRCm39)	missense	possibly damaging	0.75
R8806:Adam6b	UTSW	12	113,455,418 (GRCm39)	missense	possibly damaging	0.90
R8880:Adam6b	UTSW	12	113,454,764 (GRCm39)	missense	probably benign
R8977:Adam6b	UTSW	12	113,453,996 (GRCm39)	missense	probably benign	0.02
R8987:Adam6b	UTSW	12	113,454,748 (GRCm39)	missense	probably damaging	1.00
R9101:Adam6b	UTSW	12	113,455,376 (GRCm39)	missense	probably benign	0.22
R9103:Adam6b	UTSW	12	113,454,558 (GRCm39)	nonsense	probably null
R9334:Adam6b	UTSW	12	113,454,768 (GRCm39)	missense	probably damaging	1.00
R9641:Adam6b	UTSW	12	113,454,176 (GRCm39)	missense	probably benign
R9683:Adam6b	UTSW	12	113,454,176 (GRCm39)	missense	probably benign
R9796:Adam6b	UTSW	12	113,454,272 (GRCm39)	missense	probably damaging	1.00
RF012:Adam6b	UTSW	12	113,453,552 (GRCm39)	missense	probably damaging	1.00
RF022:Adam6b	UTSW	12	113,455,289 (GRCm39)	missense	possibly damaging	0.90
T0722:Adam6b	UTSW	12	113,454,888 (GRCm39)	missense	probably benign	0.11
T0722:Adam6b	UTSW	12	113,453,197 (GRCm39)	missense	possibly damaging	0.91

Posted On

2013-11-11