Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Adam6b'

30641

Institutional Source

Beutler Lab

Gene Symbol

Adam6b

Ensembl Gene

ENSMUSG00000051804

Gene Name

a disintegrin and metallopeptidase domain 6B

Synonyms

4930523C11Rik

MMRRC Submission

038579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113489511-113492057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113490655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 364 (V364D)

Ref Sequence

ENSEMBL: ENSMUSP00000065529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063317]

AlphaFold

Q6IMH7

Predicted Effect

probably benign
Transcript: ENSMUST00000063317
AA Change: V364D

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: V364D

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	30	167	1.1e-16	PFAM
Pfam:Reprolysin	223	407	1.1e-14	PFAM
DISIN	427	502	9.2e-33	SMART
ACR	503	640	2.74e-60	SMART
transmembrane domain	704	726	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582	L235Q	probably damaging	Het
Akap13	T	A	7: 75,730,500	S2193T	probably damaging	Het
Akap13	T	C	7: 75,609,929	L767P	probably benign	Het
Anapc11	T	C	11: 120,605,377	V69A	probably benign	Het
Ankmy1	C	T	1: 92,896,190	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426		probably benign	Het
Def6	A	G	17: 28,220,180	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700		probably null	Het
Fam205a1	T	C	4: 42,851,161	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270	T206M	probably benign	Het
Gls	T	C	1: 52,188,699	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149		noncoding transcript	Het
Myh15	A	G	16: 49,182,959	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805	C177*	probably null	Het
Opcml	A	G	9: 28,813,398	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024		probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344	T796A	probably damaging	Het
Unc5b	C	A	10: 60,778,940	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522	Y322H	probably benign	Het

Other mutations in Adam6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Adam6b	APN	12	113491393	missense	probably damaging	1.00
IGL00800:Adam6b	APN	12	113490442	missense	probably benign	0.24
IGL01456:Adam6b	APN	12	113491463	missense	probably benign	0.30
IGL02232:Adam6b	APN	12	113491144	missense	probably benign	0.06
IGL03039:Adam6b	APN	12	113490882	missense	probably damaging	1.00
IGL03399:Adam6b	APN	12	113491108	missense	probably damaging	0.97
IGL03412:Adam6b	APN	12	113491770	nonsense	probably null
R0234:Adam6b	UTSW	12	113490610	missense	probably damaging	0.98
R0234:Adam6b	UTSW	12	113490610	missense	probably damaging	0.98
R0402:Adam6b	UTSW	12	113489995	missense	probably damaging	0.96
R0420:Adam6b	UTSW	12	113489994	missense	probably benign	0.02
R0573:Adam6b	UTSW	12	113491658	missense	possibly damaging	0.90
R0884:Adam6b	UTSW	12	113490995	missense	probably damaging	1.00
R1489:Adam6b	UTSW	12	113491451	missense	probably benign	0.15
R1542:Adam6b	UTSW	12	113490939	missense	possibly damaging	0.53
R1591:Adam6b	UTSW	12	113489832	missense	probably benign	0.07
R1596:Adam6b	UTSW	12	113491026	missense	probably damaging	1.00
R1675:Adam6b	UTSW	12	113491044	missense	probably benign	0.00
R1699:Adam6b	UTSW	12	113490585	missense	probably benign	0.02
R1818:Adam6b	UTSW	12	113491256	missense	probably benign	0.15
R1829:Adam6b	UTSW	12	113489925	missense	probably damaging	1.00
R1851:Adam6b	UTSW	12	113491822	missense	probably benign	0.44
R1955:Adam6b	UTSW	12	113491816	missense	probably benign	0.16
R2040:Adam6b	UTSW	12	113490744	missense	probably benign	0.34
R3820:Adam6b	UTSW	12	113490364	missense	probably benign	0.38
R4112:Adam6b	UTSW	12	113489636	missense	possibly damaging	0.85
R4434:Adam6b	UTSW	12	113490661	missense	probably damaging	1.00
R4435:Adam6b	UTSW	12	113490661	missense	probably damaging	1.00
R4437:Adam6b	UTSW	12	113490661	missense	probably damaging	1.00
R4438:Adam6b	UTSW	12	113490661	missense	probably damaging	1.00
R4509:Adam6b	UTSW	12	113490352	missense	probably benign	0.02
R5034:Adam6b	UTSW	12	113490927	missense	probably damaging	1.00
R5316:Adam6b	UTSW	12	113491393	missense	probably damaging	1.00
R5330:Adam6b	UTSW	12	113490580	missense	possibly damaging	0.45
R5331:Adam6b	UTSW	12	113490580	missense	possibly damaging	0.45
R5604:Adam6b	UTSW	12	113490800	nonsense	probably null
R5698:Adam6b	UTSW	12	113491463	missense	probably benign	0.30
R5877:Adam6b	UTSW	12	113490202	missense	probably damaging	1.00
R6235:Adam6b	UTSW	12	113491710	missense	probably benign
R6254:Adam6b	UTSW	12	113489570	missense	probably damaging	0.99
R6371:Adam6b	UTSW	12	113490274	missense	probably damaging	0.99
R6617:Adam6b	UTSW	12	113490532	missense	possibly damaging	0.78
R6768:Adam6b	UTSW	12	113490243	missense	probably benign	0.01
R7002:Adam6b	UTSW	12	113489707	nonsense	probably null
R7003:Adam6b	UTSW	12	113490042	nonsense	probably null
R7049:Adam6b	UTSW	12	113490502	missense	probably damaging	0.99
R7313:Adam6b	UTSW	12	113491134	missense	probably benign	0.00
R7372:Adam6b	UTSW	12	113490164	missense	probably benign	0.24
R7684:Adam6b	UTSW	12	113491576	nonsense	probably null
R7777:Adam6b	UTSW	12	113490138	missense	possibly damaging	0.93
R7781:Adam6b	UTSW	12	113491342	missense	probably damaging	1.00
R7857:Adam6b	UTSW	12	113490484	missense	probably benign	0.09
R8196:Adam6b	UTSW	12	113490467	missense	probably benign	0.19
R8423:Adam6b	UTSW	12	113490910	missense	possibly damaging	0.77
R8680:Adam6b	UTSW	12	113490751	missense	probably benign	0.05
R8762:Adam6b	UTSW	12	113489607	missense	probably damaging	0.98
R8792:Adam6b	UTSW	12	113491690	missense	possibly damaging	0.75
R8806:Adam6b	UTSW	12	113491798	missense	possibly damaging	0.90
R8880:Adam6b	UTSW	12	113491144	missense	probably benign
R8977:Adam6b	UTSW	12	113490376	missense	probably benign	0.02
R8987:Adam6b	UTSW	12	113491128	missense	probably damaging	1.00
R9101:Adam6b	UTSW	12	113491756	missense	probably benign	0.22
R9103:Adam6b	UTSW	12	113490938	nonsense	probably null
R9334:Adam6b	UTSW	12	113491148	missense	probably damaging	1.00
R9641:Adam6b	UTSW	12	113490556	missense	probably benign
R9683:Adam6b	UTSW	12	113490556	missense	probably benign
R9796:Adam6b	UTSW	12	113490652	missense	probably damaging	1.00
RF012:Adam6b	UTSW	12	113489932	missense	probably damaging	1.00
RF022:Adam6b	UTSW	12	113491669	missense	possibly damaging	0.90
T0722:Adam6b	UTSW	12	113489577	missense	possibly damaging	0.91
T0722:Adam6b	UTSW	12	113491268	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GGGCCTATGAATGCATGGAAGCAC -3'
(R):5'- TTTTGGGAGCCACAGTCACACTGC -3'

Sequencing Primer
(F):5'- GCTGCTATAAAAGGCCACTTTC -3'
(R):5'- ACAGTCACACTGCTCATCG -3'

Posted On

2013-04-24