Mutagenetix > Incidental Mutation

Incidental Mutation 'R0645:Adam26b'

57068

Institutional Source

Beutler Lab

Gene Symbol

Adam26b

Ensembl Gene

ENSMUSG00000063900

Gene Name

a disintegrin and metallopeptidase domain 26B

Synonyms

MMRRC Submission

038830-MU

Accession Numbers

Essential gene?

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

Stock #

R0645 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

43972901-43981174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43973524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 493 (C493G)

Ref Sequence

ENSEMBL: ENSMUSP00000079032 (fasta)

Gene Model

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

AlphaFold

Q6IMH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000080135
AA Change: C493G

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

SMART Domains

Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: C493G

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (94/95)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	G	T	8: 25,162,136 (GRCm39)	Y46*	probably null	Het
Ak5	A	T	3: 152,359,252 (GRCm39)	L182Q	probably damaging	Het
Akt1s1	T	C	7: 44,498,645 (GRCm39)		probably benign	Het
Amhr2	G	T	15: 102,354,863 (GRCm39)	G133C	probably damaging	Het
Btbd9	A	T	17: 30,743,941 (GRCm39)	L187Q	probably damaging	Het
Ccdc117	A	T	11: 5,484,385 (GRCm39)		probably benign	Het
Ccdc138	A	T	10: 58,411,542 (GRCm39)	I637F	probably damaging	Het
Ccdc162	A	G	10: 41,462,407 (GRCm39)		probably benign	Het
Cdc25b	C	A	2: 131,033,533 (GRCm39)	H157Q	probably benign	Het
Cdon	A	G	9: 35,388,379 (GRCm39)		probably null	Het
Cdt1	G	A	8: 123,298,884 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,816,458 (GRCm39)		probably null	Het
Cfb	T	C	17: 35,078,992 (GRCm39)	K831R	probably benign	Het
Cldn4	C	A	5: 134,975,645 (GRCm39)		probably benign	Het
Cntnap5b	T	C	1: 99,999,767 (GRCm39)		probably benign	Het
Cyp27b1	T	G	10: 126,884,967 (GRCm39)	S77A	probably benign	Het
Dlc1	T	C	8: 37,041,203 (GRCm39)	D1342G	possibly damaging	Het
Dlgap4	A	G	2: 156,603,799 (GRCm39)	H887R	probably damaging	Het
Duox2	A	G	2: 122,123,139 (GRCm39)	I503T	probably damaging	Het
Eml4	T	C	17: 83,770,922 (GRCm39)		probably benign	Het
Ermap	A	G	4: 119,042,888 (GRCm39)	S212P	probably benign	Het
Esrrg	T	A	1: 187,775,538 (GRCm39)	C22S	probably benign	Het
Evx2	T	A	2: 74,488,238 (GRCm39)	Y194F	possibly damaging	Het
Fbn2	T	G	18: 58,191,461 (GRCm39)	D1554A	probably damaging	Het
Flrt1	G	A	19: 7,074,508 (GRCm39)		probably benign	Het
Fndc5	A	G	4: 129,033,630 (GRCm39)		probably benign	Het
Frem1	A	T	4: 82,907,403 (GRCm39)	I837N	probably damaging	Het
Fzd10	G	T	5: 128,679,662 (GRCm39)	A461S	possibly damaging	Het
Ganab	T	A	19: 8,888,477 (GRCm39)	Y511N	probably damaging	Het
Gbp7	A	G	3: 142,243,926 (GRCm39)		probably null	Het
Gm5919	T	A	9: 83,765,436 (GRCm39)	C91S	unknown	Het
Gpr31b	A	T	17: 13,271,093 (GRCm39)	C25*	probably null	Het
Grb10	A	G	11: 11,886,755 (GRCm39)	S505P	probably damaging	Het
Grm4	A	T	17: 27,654,183 (GRCm39)	V542E	probably damaging	Het
Gsta5	T	C	9: 78,206,303 (GRCm39)	I75T	possibly damaging	Het
Hivep3	G	A	4: 119,954,531 (GRCm39)	R949H	possibly damaging	Het
Hycc1	C	T	5: 24,184,506 (GRCm39)	G242D	probably damaging	Het
Invs	A	T	4: 48,407,653 (GRCm39)	M543L	probably benign	Het
Kcnk2	T	C	1: 188,988,927 (GRCm39)		probably null	Het
Kdm6b	A	T	11: 69,295,844 (GRCm39)	S808T	unknown	Het
Klhl30	C	T	1: 91,283,228 (GRCm39)	R277W	probably damaging	Het
Lama1	A	G	17: 68,080,707 (GRCm39)	Q1245R	probably benign	Het
Lingo3	G	T	10: 80,671,169 (GRCm39)	H254N	probably benign	Het
Lzts1	A	T	8: 69,588,392 (GRCm39)	H521Q	possibly damaging	Het
Map3k19	A	C	1: 127,749,919 (GRCm39)	I1144S	possibly damaging	Het
Mast2	T	C	4: 116,170,043 (GRCm39)		probably benign	Het
Mast2	A	G	4: 116,165,184 (GRCm39)	S1411P	probably damaging	Het
Mesp1	G	T	7: 79,442,328 (GRCm39)	S225R	possibly damaging	Het
Micu1	A	G	10: 59,675,503 (GRCm39)	T366A	possibly damaging	Het
Mideas	G	T	12: 84,205,077 (GRCm39)	N834K	possibly damaging	Het
Mknk2	T	C	10: 80,507,742 (GRCm39)		probably null	Het
Msh5	A	G	17: 35,258,199 (GRCm39)	L309P	probably damaging	Het
Myo7b	T	C	18: 32,127,962 (GRCm39)	I577V	probably benign	Het
Myom2	T	A	8: 15,167,698 (GRCm39)	D1094E	probably damaging	Het
Nedd1	T	C	10: 92,527,693 (GRCm39)		probably null	Het
Neu4	T	C	1: 93,950,191 (GRCm39)	L50S	probably damaging	Het
Noa1	T	C	5: 77,457,722 (GRCm39)	Y61C	probably benign	Het
Nr1h4	A	T	10: 89,342,390 (GRCm39)	M30K	probably benign	Het
Nsd3	A	G	8: 26,199,096 (GRCm39)	I1219V	probably benign	Het
Nup188	T	A	2: 30,233,478 (GRCm39)		probably null	Het
Or10ag2	T	A	2: 87,248,612 (GRCm39)	Y71*	probably null	Het
Or5al5	A	G	2: 85,961,378 (GRCm39)	S210P	probably damaging	Het
Or6c208	T	A	10: 129,224,162 (GRCm39)	I220N	possibly damaging	Het
Or6k2	A	T	1: 173,986,920 (GRCm39)	T194S	probably benign	Het
Pbk	G	A	14: 66,051,245 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,487,459 (GRCm39)	T1848M	possibly damaging	Het
Pdzd7	C	T	19: 45,033,914 (GRCm39)	G57R	possibly damaging	Het
Pik3r4	C	A	9: 105,546,386 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,766,433 (GRCm39)	S2153G	probably damaging	Het
Potefam1	C	T	2: 111,044,928 (GRCm39)		probably null	Het
Pphln1	G	A	15: 93,318,192 (GRCm39)	V34M	possibly damaging	Het
Prrc2a	T	C	17: 35,375,308 (GRCm39)	D1114G	probably damaging	Het
Prss16	T	C	13: 22,193,546 (GRCm39)		probably benign	Het
Rtp3	T	C	9: 110,816,168 (GRCm39)	K128E	probably damaging	Het
Scn3a	T	A	2: 65,355,194 (GRCm39)	I241F	possibly damaging	Het
Setd1a	G	A	7: 127,386,382 (GRCm39)	V336I	probably damaging	Het
Sfpq	A	G	4: 126,916,762 (GRCm39)	I320V	possibly damaging	Het
Skint5	A	T	4: 113,620,679 (GRCm39)	D678E	unknown	Het
Slc12a9	G	A	5: 137,313,638 (GRCm39)	P774S	probably benign	Het
Slc25a54	C	G	3: 109,019,481 (GRCm39)	L362V	possibly damaging	Het
Smarcd1	A	G	15: 99,605,267 (GRCm39)		probably null	Het
Spata31e5	T	A	1: 28,816,011 (GRCm39)	N674Y	probably damaging	Het
Suco	A	T	1: 161,661,683 (GRCm39)	M916K	probably damaging	Het
Tiam2	T	C	17: 3,564,973 (GRCm39)	S1404P	possibly damaging	Het
Topors	T	C	4: 40,260,333 (GRCm39)	T984A	unknown	Het
Trabd2b	A	T	4: 114,443,767 (GRCm39)	K308M	probably damaging	Het
Trmo	A	T	4: 46,377,083 (GRCm39)		probably benign	Het
Trpc3	A	T	3: 36,725,654 (GRCm39)	D107E	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uggt2	A	C	14: 119,295,010 (GRCm39)	Y539D	probably benign	Het
Wwc2	T	G	8: 48,353,674 (GRCm39)		probably benign	Het
Zdbf2	T	A	1: 63,344,109 (GRCm39)	D829E	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ATGGAGCACAAGCTGTGCCATC -3'
(R):5'- GGACTTTGTTGCCAAGATTGCCAG -3'

Sequencing Primer
(F):5'- TCCAGCAGGTGACATTACTG -3'
(R):5'- CAGTTCCTTAAAACAGGCACTGTG -3'

Posted On

2013-07-11