Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00984:Adam26b'

28096

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam26b

Ensembl Gene

ENSMUSG00000063900

Gene Name

a disintegrin and metallopeptidase domain 26B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL00984

Quality Score

Status

Chromosome

Chromosomal Location

43972901-43981174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43973410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 531 (N531Y)

Ref Sequence

ENSEMBL: ENSMUSP00000079032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080135]

AlphaFold

Q6IMH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080135
AA Change: N531Y

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: N531Y

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	29	147	4.9e-18	PFAM
Pfam:Reprolysin_5	193	364	4.8e-15	PFAM
Pfam:Reprolysin_4	194	380	1.3e-8	PFAM
Pfam:Reprolysin	195	385	9.9e-50	PFAM
Pfam:Reprolysin_2	215	377	3.9e-15	PFAM
Pfam:Reprolysin_3	219	340	2e-15	PFAM
DISIN	401	476	5.88e-40	SMART
ACR	477	613	7.69e-64	SMART
low complexity region	631	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	G	A	15: 11,215,696 (GRCm39)	R239K	probably benign	Het
Alppl2	T	A	1: 87,016,534 (GRCm39)	H180L	probably damaging	Het
Atp10a	T	C	7: 58,308,489 (GRCm39)	V96A	probably damaging	Het
Atp2c1	T	A	9: 105,295,778 (GRCm39)	I649F	probably damaging	Het
Atp6v1h	A	G	1: 5,165,905 (GRCm39)	Y125C	probably damaging	Het
Cds2	T	C	2: 132,140,441 (GRCm39)	V213A	probably benign	Het
Csnk1a1	A	G	18: 61,708,624 (GRCm39)		probably benign	Het
Ctdspl2	C	T	2: 121,799,767 (GRCm39)		probably benign	Het
Dohh	G	A	10: 81,223,756 (GRCm39)		probably null	Het
Dst	A	T	1: 34,295,401 (GRCm39)	D5971V	probably damaging	Het
Focad	G	T	4: 88,263,022 (GRCm39)	M1006I	unknown	Het
Garin5b	C	T	7: 4,760,526 (GRCm39)	V729M	probably damaging	Het
Iqgap1	T	C	7: 80,376,546 (GRCm39)	D1322G	probably damaging	Het
Mcm3ap	G	T	10: 76,335,400 (GRCm39)	S1274I	probably damaging	Het
Mrpl42	C	T	10: 95,326,202 (GRCm39)	V97I	probably benign	Het
Or4p21	A	T	2: 88,276,539 (GRCm39)	F248I	probably damaging	Het
Pabpc6	A	T	17: 9,887,618 (GRCm39)	L311H	probably damaging	Het
Pdzrn3	A	T	6: 101,331,447 (GRCm39)	S276T	probably benign	Het
Pi4ka	A	T	16: 17,176,796 (GRCm39)	C383*	probably null	Het
Pik3r6	A	G	11: 68,424,445 (GRCm39)	D350G	probably benign	Het
Ptcd1	C	T	5: 145,102,239 (GRCm39)	V27I	probably benign	Het
Ranbp2	A	T	10: 58,297,786 (GRCm39)	R398*	probably null	Het
Rpl3l	T	C	17: 24,954,445 (GRCm39)	C336R	probably damaging	Het
Rxfp2	T	C	5: 149,990,597 (GRCm39)	S443P	probably benign	Het
Sec24b	T	C	3: 129,814,295 (GRCm39)		probably benign	Het
Septin11	T	C	5: 93,310,043 (GRCm39)	M282T	possibly damaging	Het
Syt16	C	T	12: 74,269,604 (GRCm39)	Q148*	probably null	Het
Timm23	A	G	14: 31,902,612 (GRCm39)	I177T	probably benign	Het
Treh	A	G	9: 44,594,264 (GRCm39)		probably benign	Het
Vmn1r71	A	G	7: 10,482,046 (GRCm39)	V214A	probably damaging	Het
Zfp715	G	A	7: 42,949,208 (GRCm39)	P251S	probably benign	Het

Other mutations in Adam26b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Adam26b	APN	8	43,973,216 (GRCm39)	missense	probably damaging	1.00
IGL00806:Adam26b	APN	8	43,974,379 (GRCm39)	missense	probably damaging	1.00
IGL01081:Adam26b	APN	8	43,972,975 (GRCm39)	missense	probably benign	0.00
IGL01783:Adam26b	APN	8	43,974,798 (GRCm39)	missense	probably benign	0.30
IGL02021:Adam26b	APN	8	43,972,909 (GRCm39)	missense	probably benign
IGL02707:Adam26b	APN	8	43,972,895 (GRCm39)	utr 3 prime	probably benign
IGL03112:Adam26b	APN	8	43,974,549 (GRCm39)	missense	probably benign
R0195:Adam26b	UTSW	8	43,973,307 (GRCm39)	missense	probably damaging	0.99
R0453:Adam26b	UTSW	8	43,973,387 (GRCm39)	missense	probably benign	0.00
R0562:Adam26b	UTSW	8	43,973,408 (GRCm39)	missense	probably benign	0.36
R0645:Adam26b	UTSW	8	43,973,524 (GRCm39)	missense	probably damaging	1.00
R0763:Adam26b	UTSW	8	43,973,601 (GRCm39)	missense	probably damaging	1.00
R1697:Adam26b	UTSW	8	43,974,000 (GRCm39)	missense	probably damaging	0.98
R1739:Adam26b	UTSW	8	43,974,714 (GRCm39)	missense	probably damaging	1.00
R1751:Adam26b	UTSW	8	43,972,948 (GRCm39)	missense	probably benign	0.00
R1767:Adam26b	UTSW	8	43,972,948 (GRCm39)	missense	probably benign	0.00
R1994:Adam26b	UTSW	8	43,973,676 (GRCm39)	missense	probably benign	0.44
R3747:Adam26b	UTSW	8	43,974,234 (GRCm39)	missense	probably benign	0.07
R3748:Adam26b	UTSW	8	43,974,234 (GRCm39)	missense	probably benign	0.07
R3750:Adam26b	UTSW	8	43,974,234 (GRCm39)	missense	probably benign	0.07
R3771:Adam26b	UTSW	8	43,973,751 (GRCm39)	missense	probably damaging	1.00
R4027:Adam26b	UTSW	8	43,973,409 (GRCm39)	missense	probably benign	0.09
R4652:Adam26b	UTSW	8	43,974,375 (GRCm39)	missense	possibly damaging	0.49
R4790:Adam26b	UTSW	8	43,973,764 (GRCm39)	missense	probably benign	0.19
R4859:Adam26b	UTSW	8	43,973,296 (GRCm39)	missense	possibly damaging	0.80
R5059:Adam26b	UTSW	8	43,973,637 (GRCm39)	missense	probably damaging	1.00
R5191:Adam26b	UTSW	8	43,973,028 (GRCm39)	missense	probably damaging	1.00
R5540:Adam26b	UTSW	8	43,974,654 (GRCm39)	missense	probably damaging	1.00
R5568:Adam26b	UTSW	8	43,973,529 (GRCm39)	missense	probably benign	0.00
R5886:Adam26b	UTSW	8	43,973,310 (GRCm39)	missense	possibly damaging	0.72
R5935:Adam26b	UTSW	8	43,974,335 (GRCm39)	missense	probably benign	0.00
R5983:Adam26b	UTSW	8	43,974,378 (GRCm39)	missense	probably damaging	1.00
R6544:Adam26b	UTSW	8	43,974,818 (GRCm39)	missense	probably damaging	0.98
R6610:Adam26b	UTSW	8	43,974,190 (GRCm39)	missense	probably damaging	1.00
R6668:Adam26b	UTSW	8	43,973,727 (GRCm39)	missense	possibly damaging	0.72
R6966:Adam26b	UTSW	8	43,974,472 (GRCm39)	missense	possibly damaging	0.51
R7545:Adam26b	UTSW	8	43,974,750 (GRCm39)	missense	probably damaging	0.98
R7596:Adam26b	UTSW	8	43,973,237 (GRCm39)	missense	probably benign
R7634:Adam26b	UTSW	8	43,974,034 (GRCm39)	missense	probably benign
R7657:Adam26b	UTSW	8	43,974,579 (GRCm39)	missense	possibly damaging	0.95
R7692:Adam26b	UTSW	8	43,973,832 (GRCm39)	missense	probably benign	0.00
R7769:Adam26b	UTSW	8	43,974,732 (GRCm39)	missense	probably benign	0.00
R7912:Adam26b	UTSW	8	43,973,245 (GRCm39)	missense	probably benign	0.13
R7918:Adam26b	UTSW	8	43,974,138 (GRCm39)	missense	probably benign	0.14
R8286:Adam26b	UTSW	8	43,972,998 (GRCm39)	missense	probably benign	0.05
R8897:Adam26b	UTSW	8	43,974,009 (GRCm39)	missense	possibly damaging	0.91
R8922:Adam26b	UTSW	8	43,973,216 (GRCm39)	missense	probably damaging	1.00
R9075:Adam26b	UTSW	8	43,973,405 (GRCm39)	missense	probably benign	0.07
R9225:Adam26b	UTSW	8	43,973,453 (GRCm39)	nonsense	probably null
X0066:Adam26b	UTSW	8	43,973,041 (GRCm39)	missense	probably damaging	0.97
Z1088:Adam26b	UTSW	8	43,973,634 (GRCm39)	missense	probably damaging	0.99
Z1177:Adam26b	UTSW	8	43,974,459 (GRCm39)	missense	probably benign	0.03
Z1177:Adam26b	UTSW	8	43,973,735 (GRCm39)	missense	probably benign	0.24

Posted On

2013-04-17