Mutagenetix > Incidental Mutation

Incidental Mutation 'R4540:Adam6a'

333505

Institutional Source

Beutler Lab

Gene Symbol

Adam6a

Ensembl Gene

ENSMUSG00000043945

Gene Name

a disintegrin and metallopeptidase domain 6A

Synonyms

Adam6

MMRRC Submission

041776-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4540 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113507528-113510034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113508119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 164 (H164L)

Ref Sequence

ENSEMBL: ENSMUSP00000059315 (fasta)

Gene Model

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

AlphaFold

B2RSY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000053086
AA Change: H164L

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

SMART Domains

Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: H164L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arrdc3	C	A	13: 81,038,790 (GRCm39)	R31S	possibly damaging	Het
Baiap3	C	T	17: 25,465,644 (GRCm39)	V585M	probably damaging	Het
Braf	A	G	6: 39,621,267 (GRCm39)	S391P	probably damaging	Het
Ccdc51	T	C	9: 108,921,288 (GRCm39)	F392L	possibly damaging	Het
Cd1d1	A	G	3: 86,904,012 (GRCm39)	I194T	probably benign	Het
Cep162	T	C	9: 87,094,992 (GRCm39)	K806E	probably damaging	Het
Cntn4	A	G	6: 106,652,709 (GRCm39)	E726G	probably damaging	Het
Col11a1	A	G	3: 113,890,815 (GRCm39)	Y384C	unknown	Het
Cops3	A	T	11: 59,720,980 (GRCm39)	L145H	probably damaging	Het
Cul9	C	T	17: 46,814,015 (GRCm39)	M2286I	probably null	Het
Echdc1	G	A	10: 29,220,578 (GRCm39)	V245I	probably benign	Het
Fsip2	A	T	2: 82,782,009 (GRCm39)	M261L	probably benign	Het
Gm4353	A	G	7: 115,683,212 (GRCm39)	L123P	probably benign	Het
Hcfc2	G	C	10: 82,568,481 (GRCm39)	E42Q	probably benign	Het
Hfm1	A	C	5: 107,022,087 (GRCm39)	Y199*	probably null	Het
Iba57	G	A	11: 59,053,904 (GRCm39)		probably benign	Het
Ihh	T	A	1: 74,987,558 (GRCm39)	N161I	possibly damaging	Het
Kcnh7	A	G	2: 62,569,530 (GRCm39)	S789P	probably damaging	Het
Kndc1	C	A	7: 139,501,343 (GRCm39)	C877*	probably null	Het
Lhcgr	A	G	17: 89,063,036 (GRCm39)	I212T	probably benign	Het
Lrrtm2	T	A	18: 35,346,199 (GRCm39)	T368S	probably benign	Het
Mag	A	C	7: 30,600,154 (GRCm39)	V500G	probably damaging	Het
Nadsyn1	A	G	7: 143,356,960 (GRCm39)	V512A	probably damaging	Het
Nlrp3	G	A	11: 59,442,725 (GRCm39)	C759Y	possibly damaging	Het
Nup107	T	C	10: 117,597,925 (GRCm39)		probably null	Het
Or4c3d	T	C	2: 89,882,494 (GRCm39)	Y58C	probably damaging	Het
Or4f56	T	C	2: 111,703,546 (GRCm39)	Y218C	probably damaging	Het
Pcdha1	A	C	18: 37,064,680 (GRCm39)	D448A	probably damaging	Het
Pitrm1	T	A	13: 6,605,506 (GRCm39)		probably null	Het
Pth2r	A	G	1: 65,321,360 (GRCm39)	N13S	probably benign	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Selenoi	A	G	5: 30,461,085 (GRCm39)	D107G	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Spag17	C	T	3: 99,995,697 (GRCm39)	P1779S	probably damaging	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Tbc1d30	T	C	10: 121,115,063 (GRCm39)	E365G	probably damaging	Het
Tnxb	C	T	17: 34,922,309 (GRCm39)	T2374I	possibly damaging	Het
Trip12	A	G	1: 84,726,997 (GRCm39)	I1T	probably damaging	Het

Other mutations in Adam6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Adam6a	APN	12	113,508,845 (GRCm39)	missense	probably benign	0.00
IGL00896:Adam6a	APN	12	113,509,030 (GRCm39)	missense	possibly damaging	0.56
IGL01146:Adam6a	APN	12	113,507,840 (GRCm39)	missense	probably damaging	1.00
IGL01285:Adam6a	APN	12	113,509,893 (GRCm39)	makesense	probably null
IGL01839:Adam6a	APN	12	113,508,242 (GRCm39)	missense	probably benign	0.03
IGL01906:Adam6a	APN	12	113,507,951 (GRCm39)	missense	probably benign	0.19
IGL02306:Adam6a	APN	12	113,509,343 (GRCm39)	missense	possibly damaging	0.93
IGL03146:Adam6a	APN	12	113,509,144 (GRCm39)	missense	probably damaging	1.00
IGL03176:Adam6a	APN	12	113,509,822 (GRCm39)	missense	probably benign	0.00
IGL03365:Adam6a	APN	12	113,507,765 (GRCm39)	missense	possibly damaging	0.86
IGL03373:Adam6a	APN	12	113,509,172 (GRCm39)	missense	possibly damaging	0.55
PIT4802001:Adam6a	UTSW	12	113,509,078 (GRCm39)	missense	probably damaging	1.00
R0091:Adam6a	UTSW	12	113,507,849 (GRCm39)	missense	possibly damaging	0.46
R0149:Adam6a	UTSW	12	113,509,369 (GRCm39)	missense	probably damaging	1.00
R0348:Adam6a	UTSW	12	113,508,337 (GRCm39)	missense	probably damaging	0.99
R0376:Adam6a	UTSW	12	113,508,310 (GRCm39)	missense	probably damaging	1.00
R1471:Adam6a	UTSW	12	113,508,013 (GRCm39)	missense	probably damaging	1.00
R1474:Adam6a	UTSW	12	113,508,069 (GRCm39)	missense	possibly damaging	0.66
R1553:Adam6a	UTSW	12	113,508,835 (GRCm39)	missense	probably damaging	1.00
R1679:Adam6a	UTSW	12	113,508,376 (GRCm39)	missense	probably benign	0.00
R1808:Adam6a	UTSW	12	113,508,334 (GRCm39)	missense	probably benign	0.00
R1826:Adam6a	UTSW	12	113,509,742 (GRCm39)	missense	possibly damaging	0.46
R1856:Adam6a	UTSW	12	113,508,923 (GRCm39)	missense	probably damaging	1.00
R1916:Adam6a	UTSW	12	113,509,556 (GRCm39)	missense	probably benign
R2011:Adam6a	UTSW	12	113,508,998 (GRCm39)	missense	probably benign	0.09
R2049:Adam6a	UTSW	12	113,508,049 (GRCm39)	missense	probably benign	0.17
R2364:Adam6a	UTSW	12	113,508,250 (GRCm39)	missense	probably benign	0.05
R3820:Adam6a	UTSW	12	113,507,798 (GRCm39)	missense	probably benign	0.00
R4119:Adam6a	UTSW	12	113,508,194 (GRCm39)	missense	probably benign	0.06
R4627:Adam6a	UTSW	12	113,508,569 (GRCm39)	missense	probably benign
R4665:Adam6a	UTSW	12	113,507,992 (GRCm39)	missense	possibly damaging	0.64
R4859:Adam6a	UTSW	12	113,509,609 (GRCm39)	missense	probably damaging	1.00
R4997:Adam6a	UTSW	12	113,508,991 (GRCm39)	missense	probably damaging	1.00
R5270:Adam6a	UTSW	12	113,507,747 (GRCm39)	missense	possibly damaging	0.46
R5751:Adam6a	UTSW	12	113,508,447 (GRCm39)	missense	possibly damaging	0.79
R5775:Adam6a	UTSW	12	113,509,886 (GRCm39)	missense	possibly damaging	0.47
R5863:Adam6a	UTSW	12	113,507,987 (GRCm39)	missense	probably benign	0.01
R6154:Adam6a	UTSW	12	113,509,292 (GRCm39)	missense	probably benign	0.11
R6313:Adam6a	UTSW	12	113,508,670 (GRCm39)	missense	possibly damaging	0.56
R6316:Adam6a	UTSW	12	113,509,196 (GRCm39)	missense	probably benign	0.27
R6706:Adam6a	UTSW	12	113,508,886 (GRCm39)	missense	probably benign	0.00
R6845:Adam6a	UTSW	12	113,507,717 (GRCm39)	missense	possibly damaging	0.96
R7134:Adam6a	UTSW	12	113,508,655 (GRCm39)	missense	probably benign	0.04
R7179:Adam6a	UTSW	12	113,509,291 (GRCm39)	missense	probably benign	0.02
R7206:Adam6a	UTSW	12	113,509,654 (GRCm39)	missense	probably damaging	1.00
R7230:Adam6a	UTSW	12	113,509,202 (GRCm39)	missense	probably damaging	1.00
R7296:Adam6a	UTSW	12	113,509,192 (GRCm39)	missense	probably damaging	1.00
R7676:Adam6a	UTSW	12	113,508,196 (GRCm39)	missense	probably benign	0.00
R7730:Adam6a	UTSW	12	113,507,660 (GRCm39)	missense	possibly damaging	0.86
R7743:Adam6a	UTSW	12	113,508,152 (GRCm39)	missense	probably benign
R7841:Adam6a	UTSW	12	113,509,078 (GRCm39)	missense	probably damaging	1.00
R8356:Adam6a	UTSW	12	113,509,757 (GRCm39)	missense	probably benign	0.08
R8531:Adam6a	UTSW	12	113,508,917 (GRCm39)	missense	probably damaging	1.00
R9568:Adam6a	UTSW	12	113,508,020 (GRCm39)	missense	possibly damaging	0.74
R9624:Adam6a	UTSW	12	113,509,070 (GRCm39)	missense	probably damaging	1.00
R9679:Adam6a	UTSW	12	113,509,542 (GRCm39)	missense	probably benign	0.00
R9680:Adam6a	UTSW	12	113,509,484 (GRCm39)	nonsense	probably null
X0027:Adam6a	UTSW	12	113,508,863 (GRCm39)	missense	probably benign	0.01
Z1176:Adam6a	UTSW	12	113,508,941 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CACTCATTTGGCCCAGACAC -3'
(R):5'- AAGTGGCCTTTTATAGCAGCTGG -3'

Sequencing Primer
(F):5'- TGGCCCAGACACTTGTTG -3'
(R):5'- ATAGCAGCTGGATGTGTAGC -3'

Posted On

2015-08-18