Mutagenetix > Incidental Mutation

Incidental Mutation 'R5983:Adam26b'

481524

Institutional Source

Beutler Lab

Gene Symbol

Adam26b

Ensembl Gene

ENSMUSG00000063900

Gene Name

a disintegrin and metallopeptidase domain 26B

Synonyms

MMRRC Submission

044164-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43972901-43981174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43974378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 208 (Y208C)

Ref Sequence

ENSEMBL: ENSMUSP00000079032 (fasta)

Gene Model

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

AlphaFold

Q6IMH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000080135
AA Change: Y208C

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

SMART Domains

Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: Y208C

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,807,942 (GRCm39)	M861K	probably benign	Het
Abhd18	T	A	3: 40,864,979 (GRCm39)	F73L	probably damaging	Het
Abraxas1	A	G	5: 100,955,777 (GRCm39)	V237A	probably benign	Het
Aire	A	G	10: 77,878,903 (GRCm39)	L48P	probably damaging	Het
Bach2	A	T	4: 32,563,324 (GRCm39)	E597V	probably damaging	Het
Ccdc170	A	T	10: 4,470,851 (GRCm39)	R232*	probably null	Het
Cfap100	A	C	6: 90,396,373 (GRCm39)		probably benign	Het
Dppa2	G	A	16: 48,136,204 (GRCm39)	M185I	probably benign	Het
Ecsit	C	T	9: 21,989,443 (GRCm39)		probably null	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Grm8	T	C	6: 27,760,220 (GRCm39)	K370R	probably benign	Het
Ide	C	T	19: 37,249,549 (GRCm39)		probably null	Het
Katnip	T	A	7: 125,449,545 (GRCm39)	W870R	probably damaging	Het
Morn3	T	C	5: 123,175,851 (GRCm39)	D179G	possibly damaging	Het
Nkapd1	A	G	9: 50,519,142 (GRCm39)	S157P	probably damaging	Het
Nvl	A	T	1: 180,964,471 (GRCm39)	D102E	probably benign	Het
Or5an10	T	A	19: 12,276,467 (GRCm39)	I10F	probably benign	Het
Rbm5	G	A	9: 107,622,141 (GRCm39)	P611L	probably damaging	Het
Rsph9	A	G	17: 46,440,406 (GRCm39)	M230T	probably benign	Het
Sacs	G	A	14: 61,442,648 (GRCm39)	V1565M	probably damaging	Het
Serpina3n	T	C	12: 104,375,288 (GRCm39)	L120P	probably damaging	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Tmc2	T	A	2: 130,089,896 (GRCm39)	M627K	probably damaging	Het
Tmem147	T	C	7: 30,427,484 (GRCm39)	D111G	probably damaging	Het
Ttn	A	G	2: 76,572,725 (GRCm39)	V17729A	possibly damaging	Het
Vmn2r104	G	A	17: 20,261,970 (GRCm39)	P387S	probably damaging	Het
Zfp940	C	T	7: 29,544,477 (GRCm39)	V477M	possibly damaging	Het
Zw10	A	G	9: 48,988,745 (GRCm39)		probably null	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
IGL00984:Adam26b	APN	8	43,973,410 (GRCm39)	missense	possibly damaging	0.86
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
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

Predicted Primers

PCR Primer
(F):5'- GCGATTGCCAAACATGTTTTG -3'
(R):5'- TCTGGCTTACAAAATGGACAATGG -3'

Sequencing Primer
(F):5'- GCCAAACATGTTTTGCTTCCAAG -3'
(R):5'- ATGGGGATTCAGAACCATCTC -3'

Posted On

2017-06-26