Mutagenetix > Incidental Mutations

Incidental Mutation 'R5863:Adam6a'

454022

Institutional Source

Beutler Lab

Gene Symbol

Adam6a

Ensembl Gene

ENSMUSG00000043945

Gene Name

a disintegrin and metallopeptidase domain 6A

Synonyms

Adam6

MMRRC Submission

043232-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5863 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113543908-113546465 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113544367 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 120 (I120T)

Ref Sequence

ENSEMBL: ENSMUSP00000059315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053086]

Predicted Effect

probably benign
Transcript: ENSMUST00000053086
AA Change: I120T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: I120T

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	30	167	6.9e-17	PFAM
Pfam:Reprolysin	222	407	4e-15	PFAM
DISIN	427	502	1.63e-33	SMART
ACR	503	640	7.46e-62	SMART
transmembrane domain	704	726	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,503,223	I204T	possibly damaging	Het
Abcc2	A	G	19: 43,798,136	I136V	probably benign	Het
Add3	C	A	19: 53,233,870	L303I	probably benign	Het
Als2cr12	G	T	1: 58,691,749	H49Q	probably benign	Het
Anln	A	G	9: 22,337,984	L149P	probably damaging	Het
Arhgef4	A	G	1: 34,722,845	E394G	unknown	Het
Asns	G	A	6: 7,675,443	Q520*	probably null	Het
Auh	T	G	13: 52,898,658	N141T	probably benign	Het
B3galt2	G	A	1: 143,646,366	R80Q	probably benign	Het
Bcl9	T	C	3: 97,210,350	T343A	probably benign	Het
C3	T	A	17: 57,223,141	I487F	probably benign	Het
Cast	T	C	13: 74,736,756	K326E	probably damaging	Het
Ccdc185	T	A	1: 182,748,557	H189L	possibly damaging	Het
Cep112	A	G	11: 108,606,232	E51G	probably damaging	Het
Cpvl	G	A	6: 53,873,428	P475S	probably damaging	Het
Cstf2t	G	T	19: 31,083,077	L4F	probably damaging	Het
Dido1	A	G	2: 180,661,773	V1446A	probably benign	Het
Dlg2	T	A	7: 91,711,779	M35K	probably benign	Het
Dnah12	C	T	14: 26,854,921	L3043F	probably damaging	Het
Fam135a	A	G	1: 24,014,782	S1225P	possibly damaging	Het
Fhod3	T	C	18: 25,125,753	F1443S	probably benign	Het
Gm14226	C	A	2: 155,024,291	T56N	probably benign	Het
Itgb4	C	T	11: 115,990,922	R766W	probably damaging	Het
Kcnj8	T	A	6: 142,565,688	I398F	probably benign	Het
Khdrbs1	G	A	4: 129,722,700	R284C	probably damaging	Het
Nog	A	G	11: 89,301,530	L164P	probably damaging	Het
Olfr46	G	A	7: 140,610,631	G155D	probably damaging	Het
Olfr898	T	C	9: 38,349,787	S235P	probably benign	Het
Pkhd1	T	A	1: 20,520,210	Q1771L	possibly damaging	Het
Prl3c1	T	A	13: 27,203,610	*193K	probably null	Het
Prpf4b	T	A	13: 34,899,128	I829N	possibly damaging	Het
Rassf1	C	T	9: 107,557,824	P103S	probably damaging	Het
Rdh16f2	A	C	10: 127,876,387	I238L	probably benign	Het
Sdk2	G	T	11: 113,834,984	D1146E	probably damaging	Het
Slc16a3	T	C	11: 120,957,953	F412L	probably benign	Het
Slc24a1	T	C	9: 64,928,542	T768A	unknown	Het
Stk32a	A	G	18: 43,315,144	N396S	probably benign	Het
Ston1	T	C	17: 88,635,945	S260P	possibly damaging	Het
Tmem135	A	G	7: 89,147,968		probably null	Het
Tmem30c	A	G	16: 57,270,055	V263A	probably benign	Het
Ttn	T	A	2: 76,756,758	T21632S	probably damaging	Het
Ube2w	A	G	1: 16,585,307	I141T	probably damaging	Het
Zfp651	A	G	9: 121,767,530	S651G	probably benign	Het
Zscan20	A	T	4: 128,586,348	C783*	probably null	Het

Other mutations in Adam6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Adam6a	APN	12	113545225	missense	probably benign	0.00
IGL00896:Adam6a	APN	12	113545410	missense	possibly damaging	0.56
IGL01146:Adam6a	APN	12	113544220	missense	probably damaging	1.00
IGL01285:Adam6a	APN	12	113546273	makesense	probably null
IGL01839:Adam6a	APN	12	113544622	missense	probably benign	0.03
IGL01906:Adam6a	APN	12	113544331	missense	probably benign	0.19
IGL02306:Adam6a	APN	12	113545723	missense	possibly damaging	0.93
IGL03146:Adam6a	APN	12	113545524	missense	probably damaging	1.00
IGL03176:Adam6a	APN	12	113546202	missense	probably benign	0.00
IGL03365:Adam6a	APN	12	113544145	missense	possibly damaging	0.86
IGL03373:Adam6a	APN	12	113545552	missense	possibly damaging	0.55
PIT4802001:Adam6a	UTSW	12	113545458	missense	probably damaging	1.00
R0091:Adam6a	UTSW	12	113544229	missense	possibly damaging	0.46
R0149:Adam6a	UTSW	12	113545749	missense	probably damaging	1.00
R0348:Adam6a	UTSW	12	113544717	missense	probably damaging	0.99
R0376:Adam6a	UTSW	12	113544690	missense	probably damaging	1.00
R1471:Adam6a	UTSW	12	113544393	missense	probably damaging	1.00
R1474:Adam6a	UTSW	12	113544449	missense	possibly damaging	0.66
R1553:Adam6a	UTSW	12	113545215	missense	probably damaging	1.00
R1679:Adam6a	UTSW	12	113544756	missense	probably benign	0.00
R1808:Adam6a	UTSW	12	113544714	missense	probably benign	0.00
R1826:Adam6a	UTSW	12	113546122	missense	possibly damaging	0.46
R1856:Adam6a	UTSW	12	113545303	missense	probably damaging	1.00
R1916:Adam6a	UTSW	12	113545936	missense	probably benign
R2011:Adam6a	UTSW	12	113545378	missense	probably benign	0.09
R2049:Adam6a	UTSW	12	113544429	missense	probably benign	0.17
R2364:Adam6a	UTSW	12	113544630	missense	probably benign	0.05
R3820:Adam6a	UTSW	12	113544178	missense	probably benign	0.00
R4119:Adam6a	UTSW	12	113544574	missense	probably benign	0.06
R4540:Adam6a	UTSW	12	113544499	missense	probably damaging	1.00
R4627:Adam6a	UTSW	12	113544949	missense	probably benign
R4665:Adam6a	UTSW	12	113544372	missense	possibly damaging	0.64
R4859:Adam6a	UTSW	12	113545989	missense	probably damaging	1.00
R4997:Adam6a	UTSW	12	113545371	missense	probably damaging	1.00
R5270:Adam6a	UTSW	12	113544127	missense	possibly damaging	0.46
R5751:Adam6a	UTSW	12	113544827	missense	possibly damaging	0.79
R5775:Adam6a	UTSW	12	113546266	missense	possibly damaging	0.47
R6154:Adam6a	UTSW	12	113545672	missense	probably benign	0.11
R6313:Adam6a	UTSW	12	113545050	missense	possibly damaging	0.56
R6316:Adam6a	UTSW	12	113545576	missense	probably benign	0.27
R6706:Adam6a	UTSW	12	113545266	missense	probably benign	0.00
R6845:Adam6a	UTSW	12	113544097	missense	possibly damaging	0.96
R7134:Adam6a	UTSW	12	113545035	missense	probably benign	0.04
R7179:Adam6a	UTSW	12	113545671	missense	probably benign	0.02
R7206:Adam6a	UTSW	12	113546034	missense	probably damaging	1.00
R7230:Adam6a	UTSW	12	113545582	missense	probably damaging	1.00
R7296:Adam6a	UTSW	12	113545572	missense	probably damaging	1.00
R7676:Adam6a	UTSW	12	113544576	missense	probably benign	0.00
R7730:Adam6a	UTSW	12	113544040	missense	possibly damaging	0.86
R7743:Adam6a	UTSW	12	113544532	missense	probably benign
R7841:Adam6a	UTSW	12	113545458	missense	probably damaging	1.00
R8356:Adam6a	UTSW	12	113546137	missense	probably benign	0.08
R8531:Adam6a	UTSW	12	113545297	missense	probably damaging	1.00
X0027:Adam6a	UTSW	12	113545243	missense	probably benign	0.01
Z1176:Adam6a	UTSW	12	113545321	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CCTCGGAAGGAGATCTACCATAC -3'
(R):5'- ATGGCTCCAGTGCTTCCATG -3'

Sequencing Primer
(F):5'- GGAGATCTACCATACCAAAGGACTTC -3'
(R):5'- AGTGCTTCCATGCATTCATAGG -3'

Posted On

2017-02-10