Mutagenetix > Incidental Mutation

Incidental Mutation 'R1751:Adam26b'

193518

Institutional Source

Beutler Lab

Gene Symbol

Adam26b

Ensembl Gene

ENSMUSG00000063900

Gene Name

a disintegrin and metallopeptidase domain 26B

Synonyms

MMRRC Submission

039783-MU

Accession Numbers

Essential gene?

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

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43972901-43981174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43972948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 685 (I685F)

Ref Sequence

ENSEMBL: ENSMUSP00000079032 (fasta)

Gene Model

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

AlphaFold

Q6IMH6

Predicted Effect

probably benign
Transcript: ENSMUST00000080135
AA Change: I685F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: I685F

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

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bank1	G	T	3: 135,940,375 (GRCm39)	R203S	probably benign	Het
Bank1	A	G	3: 135,960,698 (GRCm39)	V53A	probably benign	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cdc5l	A	T	17: 45,718,731 (GRCm39)	D628E	probably benign	Het
Chd3	G	A	11: 69,244,727 (GRCm39)		probably benign	Het
Clstn3	A	T	6: 124,408,958 (GRCm39)	W860R	probably damaging	Het
Cntn4	G	A	6: 106,595,371 (GRCm39)		probably null	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Cyp2b9	T	C	7: 25,886,100 (GRCm39)	V89A	probably benign	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gart	A	C	16: 91,439,837 (GRCm39)		probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gnas	T	A	2: 174,139,687 (GRCm39)		probably benign	Het
Greb1	A	G	12: 16,773,439 (GRCm39)		probably benign	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,725,773 (GRCm39)		probably benign	Het
Igf2r	A	C	17: 12,916,328 (GRCm39)	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,469 (GRCm39)	L1274P	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrp6	A	G	6: 134,441,531 (GRCm39)	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,820,884 (GRCm39)	T914S	probably benign	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12d17	A	T	17: 37,777,792 (GRCm39)	M232L	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pcp4	A	C	16: 96,326,689 (GRCm39)	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,240,348 (GRCm39)		probably benign	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Pik3c2a	A	C	7: 115,945,471 (GRCm39)	V1445G	probably damaging	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,685,677 (GRCm39)		probably benign	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rfx2	A	G	17: 57,091,754 (GRCm39)	V313A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Sbpl	A	G	17: 24,173,777 (GRCm39)		probably null	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Setbp1	T	C	18: 78,900,613 (GRCm39)	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,180,452 (GRCm39)	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Smarca2	T	C	19: 26,617,780 (GRCm39)		probably benign	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Stox1	T	C	10: 62,495,445 (GRCm39)	T943A	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Trpc7	T	A	13: 56,923,956 (GRCm39)	D743V	probably damaging	Het
Trrap	T	C	5: 144,751,385 (GRCm39)		probably null	Het
Tsc1	A	G	2: 28,566,038 (GRCm39)	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Tsr3	T	C	17: 25,461,613 (GRCm39)	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,682,786 (GRCm39)	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zfp108	C	A	7: 23,961,321 (GRCm39)	H637Q	probably damaging	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
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

Predicted Primers

Posted On

2014-05-23