Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01906:Adam6a'

179679

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam6a

Ensembl Gene

ENSMUSG00000043945

Gene Name

a disintegrin and metallopeptidase domain 6A

Synonyms

Adam6

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01906

Quality Score

Status

Chromosome

Chromosomal Location

113507528-113510034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113507951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 108 (M108K)

Ref Sequence

ENSEMBL: ENSMUSP00000059315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053086]

AlphaFold

B2RSY5

Predicted Effect

probably benign
Transcript: ENSMUST00000053086
AA Change: M108K

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: M108K

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	30	167	6.9e-17	PFAM
Pfam:Reprolysin	222	407	4e-15	PFAM
DISIN	427	502	1.63e-33	SMART
ACR	503	640	7.46e-62	SMART
transmembrane domain	704	726	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,166,225 (GRCm39)	Q24L	probably damaging	Het
Adam1b	A	T	5: 121,639,538 (GRCm39)	N502K	probably benign	Het
Akr1b10	A	G	6: 34,364,746 (GRCm39)	K69R	probably benign	Het
Ap5b1	T	A	19: 5,621,007 (GRCm39)	L809*	probably null	Het
Asxl3	A	T	18: 22,655,338 (GRCm39)	H1116L	probably benign	Het
Birc6	A	G	17: 74,945,353 (GRCm39)	T2794A	probably damaging	Het
Bst1	T	C	5: 43,994,861 (GRCm39)	F248L	probably damaging	Het
Cep120	A	T	18: 53,847,984 (GRCm39)	V625E	probably benign	Het
Cgnl1	T	C	9: 71,631,849 (GRCm39)	M501V	probably benign	Het
Col19a1	T	A	1: 24,356,510 (GRCm39)	D661V	probably damaging	Het
Copb2	A	T	9: 98,462,383 (GRCm39)	E456V	probably benign	Het
Csk	A	G	9: 57,536,304 (GRCm39)	I201T	probably damaging	Het
Cttnbp2	G	T	6: 18,378,375 (GRCm39)	S977*	probably null	Het
Ddr2	A	G	1: 169,809,668 (GRCm39)	W770R	probably damaging	Het
Dnah7b	T	C	1: 46,214,613 (GRCm39)	I1126T	probably damaging	Het
Ephb4	A	T	5: 137,359,456 (GRCm39)	E342V	probably damaging	Het
Erc2	T	A	14: 27,863,263 (GRCm39)	L496Q	probably damaging	Het
Faim2	G	A	15: 99,412,314 (GRCm39)	T140I	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Haus3	A	C	5: 34,325,667 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,543,638 (GRCm39)	T2846A	probably benign	Het
Mto1	T	C	9: 78,372,213 (GRCm39)	V561A	probably benign	Het
Myb	T	C	10: 21,028,533 (GRCm39)	Y110C	probably damaging	Het
Or4k36	T	C	2: 111,146,246 (GRCm39)	C141R	probably damaging	Het
Plcd3	T	C	11: 102,967,682 (GRCm39)	Y420C	probably damaging	Het
Plk4	G	T	3: 40,764,816 (GRCm39)	M603I	probably null	Het
Scgb1b24	T	C	7: 33,443,538 (GRCm39)	C66R	probably damaging	Het
Sec23a	T	C	12: 59,053,830 (GRCm39)	Y56C	probably damaging	Het
Setd1b	C	A	5: 123,295,730 (GRCm39)	D1099E	unknown	Het
Sh2d7	G	A	9: 54,446,750 (GRCm39)		probably benign	Het
Slc30a10	A	T	1: 185,188,593 (GRCm39)	K221*	probably null	Het
Slc5a1	T	C	5: 33,311,997 (GRCm39)	L463P	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,208,115 (GRCm39)	T419A	probably benign	Het
Styxl2	A	C	1: 165,927,092 (GRCm39)	L840R	probably damaging	Het
Ttc39a	T	C	4: 109,278,591 (GRCm39)	M82T	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vps13b	T	C	15: 35,639,993 (GRCm39)		probably benign	Het

Other mutations in Adam6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Adam6a	APN	12	113,508,845 (GRCm39)	missense	probably benign	0.00
IGL00896:Adam6a	APN	12	113,509,030 (GRCm39)	missense	possibly damaging	0.56
IGL01146:Adam6a	APN	12	113,507,840 (GRCm39)	missense	probably damaging	1.00
IGL01285:Adam6a	APN	12	113,509,893 (GRCm39)	makesense	probably null
IGL01839:Adam6a	APN	12	113,508,242 (GRCm39)	missense	probably benign	0.03
IGL02306:Adam6a	APN	12	113,509,343 (GRCm39)	missense	possibly damaging	0.93
IGL03146:Adam6a	APN	12	113,509,144 (GRCm39)	missense	probably damaging	1.00
IGL03176:Adam6a	APN	12	113,509,822 (GRCm39)	missense	probably benign	0.00
IGL03365:Adam6a	APN	12	113,507,765 (GRCm39)	missense	possibly damaging	0.86
IGL03373:Adam6a	APN	12	113,509,172 (GRCm39)	missense	possibly damaging	0.55
PIT4802001:Adam6a	UTSW	12	113,509,078 (GRCm39)	missense	probably damaging	1.00
R0091:Adam6a	UTSW	12	113,507,849 (GRCm39)	missense	possibly damaging	0.46
R0149:Adam6a	UTSW	12	113,509,369 (GRCm39)	missense	probably damaging	1.00
R0348:Adam6a	UTSW	12	113,508,337 (GRCm39)	missense	probably damaging	0.99
R0376:Adam6a	UTSW	12	113,508,310 (GRCm39)	missense	probably damaging	1.00
R1471:Adam6a	UTSW	12	113,508,013 (GRCm39)	missense	probably damaging	1.00
R1474:Adam6a	UTSW	12	113,508,069 (GRCm39)	missense	possibly damaging	0.66
R1553:Adam6a	UTSW	12	113,508,835 (GRCm39)	missense	probably damaging	1.00
R1679:Adam6a	UTSW	12	113,508,376 (GRCm39)	missense	probably benign	0.00
R1808:Adam6a	UTSW	12	113,508,334 (GRCm39)	missense	probably benign	0.00
R1826:Adam6a	UTSW	12	113,509,742 (GRCm39)	missense	possibly damaging	0.46
R1856:Adam6a	UTSW	12	113,508,923 (GRCm39)	missense	probably damaging	1.00
R1916:Adam6a	UTSW	12	113,509,556 (GRCm39)	missense	probably benign
R2011:Adam6a	UTSW	12	113,508,998 (GRCm39)	missense	probably benign	0.09
R2049:Adam6a	UTSW	12	113,508,049 (GRCm39)	missense	probably benign	0.17
R2364:Adam6a	UTSW	12	113,508,250 (GRCm39)	missense	probably benign	0.05
R3820:Adam6a	UTSW	12	113,507,798 (GRCm39)	missense	probably benign	0.00
R4119:Adam6a	UTSW	12	113,508,194 (GRCm39)	missense	probably benign	0.06
R4540:Adam6a	UTSW	12	113,508,119 (GRCm39)	missense	probably damaging	1.00
R4627:Adam6a	UTSW	12	113,508,569 (GRCm39)	missense	probably benign
R4665:Adam6a	UTSW	12	113,507,992 (GRCm39)	missense	possibly damaging	0.64
R4859:Adam6a	UTSW	12	113,509,609 (GRCm39)	missense	probably damaging	1.00
R4997:Adam6a	UTSW	12	113,508,991 (GRCm39)	missense	probably damaging	1.00
R5270:Adam6a	UTSW	12	113,507,747 (GRCm39)	missense	possibly damaging	0.46
R5751:Adam6a	UTSW	12	113,508,447 (GRCm39)	missense	possibly damaging	0.79
R5775:Adam6a	UTSW	12	113,509,886 (GRCm39)	missense	possibly damaging	0.47
R5863:Adam6a	UTSW	12	113,507,987 (GRCm39)	missense	probably benign	0.01
R6154:Adam6a	UTSW	12	113,509,292 (GRCm39)	missense	probably benign	0.11
R6313:Adam6a	UTSW	12	113,508,670 (GRCm39)	missense	possibly damaging	0.56
R6316:Adam6a	UTSW	12	113,509,196 (GRCm39)	missense	probably benign	0.27
R6706:Adam6a	UTSW	12	113,508,886 (GRCm39)	missense	probably benign	0.00
R6845:Adam6a	UTSW	12	113,507,717 (GRCm39)	missense	possibly damaging	0.96
R7134:Adam6a	UTSW	12	113,508,655 (GRCm39)	missense	probably benign	0.04
R7179:Adam6a	UTSW	12	113,509,291 (GRCm39)	missense	probably benign	0.02
R7206:Adam6a	UTSW	12	113,509,654 (GRCm39)	missense	probably damaging	1.00
R7230:Adam6a	UTSW	12	113,509,202 (GRCm39)	missense	probably damaging	1.00
R7296:Adam6a	UTSW	12	113,509,192 (GRCm39)	missense	probably damaging	1.00
R7676:Adam6a	UTSW	12	113,508,196 (GRCm39)	missense	probably benign	0.00
R7730:Adam6a	UTSW	12	113,507,660 (GRCm39)	missense	possibly damaging	0.86
R7743:Adam6a	UTSW	12	113,508,152 (GRCm39)	missense	probably benign
R7841:Adam6a	UTSW	12	113,509,078 (GRCm39)	missense	probably damaging	1.00
R8356:Adam6a	UTSW	12	113,509,757 (GRCm39)	missense	probably benign	0.08
R8531:Adam6a	UTSW	12	113,508,917 (GRCm39)	missense	probably damaging	1.00
R9568:Adam6a	UTSW	12	113,508,020 (GRCm39)	missense	possibly damaging	0.74
R9624:Adam6a	UTSW	12	113,509,070 (GRCm39)	missense	probably damaging	1.00
R9679:Adam6a	UTSW	12	113,509,542 (GRCm39)	missense	probably benign	0.00
R9680:Adam6a	UTSW	12	113,509,484 (GRCm39)	nonsense	probably null
X0027:Adam6a	UTSW	12	113,508,863 (GRCm39)	missense	probably benign	0.01
Z1176:Adam6a	UTSW	12	113,508,941 (GRCm39)	missense	possibly damaging	0.92

Posted On

2014-05-07