Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Adam6a'

510539

Institutional Source

Beutler Lab

Gene Symbol

Adam6a

Ensembl Gene

ENSMUSG00000043945

Gene Name

a disintegrin and metallopeptidase domain 6A

Synonyms

Adam6

MMRRC Submission

044470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113543908-113546465 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113545050 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 348 (N348Y)

Ref Sequence

ENSEMBL: ENSMUSP00000059315 (fasta)

Gene Model

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

AlphaFold

B2RSY5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053086
AA Change: N348Y

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: N348Y

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

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	C	T	9: 51,290,181 (GRCm38)	D192N	probably damaging	Het
4932415D10Rik	T	C	10: 82,293,636 (GRCm38)	N1180S	probably benign	Het
Abca16	T	C	7: 120,527,121 (GRCm38)	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,874,965 (GRCm38)	A145T	probably damaging	Het
Acaca	C	T	11: 84,292,929 (GRCm38)	T32I	probably benign	Het
Ankdd1a	C	T	9: 65,508,061 (GRCm38)	A227T	possibly damaging	Het
Arhgef38	T	C	3: 133,234,708 (GRCm38)	D39G	possibly damaging	Het
Arid5b	T	C	10: 68,097,582 (GRCm38)	D587G	possibly damaging	Het
Brwd1	A	G	16: 96,007,941 (GRCm38)	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,205 (GRCm38)	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,774,522 (GRCm38)	Q53R	probably benign	Het
Celsr2	G	A	3: 108,401,214 (GRCm38)	S1799L	probably damaging	Het
Cenpe	A	G	3: 135,230,175 (GRCm38)	E457G	probably benign	Het
Cmtm1	A	T	8: 104,305,163 (GRCm38)	M283K	possibly damaging	Het
Dcdc5	T	C	2: 106,368,171 (GRCm38)		noncoding transcript	Het
Decr1	T	A	4: 15,924,261 (GRCm38)	M220L	probably benign	Het
Dgkg	T	G	16: 22,519,561 (GRCm38)	D592A	probably damaging	Het
Dkkl1	T	C	7: 45,211,438 (GRCm38)	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,659,514 (GRCm38)	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,481,371 (GRCm38)	E146D	probably benign	Het
Efhc1	T	C	1: 20,979,428 (GRCm38)	V504A	possibly damaging	Het
Ermard	T	G	17: 15,053,205 (GRCm38)		probably null	Het
Espl1	T	C	15: 102,315,812 (GRCm38)	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,403,397 (GRCm38)	V40G	probably damaging	Het
Gm3460	A	T	14: 6,619,410 (GRCm38)	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,620,097 (GRCm38)	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,157,532 (GRCm38)		probably null	Het
Hc	T	C	2: 34,989,839 (GRCm38)		probably null	Het
Iars	T	C	13: 49,708,445 (GRCm38)	S491P	probably damaging	Het
Knl1	T	A	2: 119,069,318 (GRCm38)	L500H	probably damaging	Het
Lamb1	A	T	12: 31,269,147 (GRCm38)	T102S	probably damaging	Het
Lrrc7	A	G	3: 158,160,736 (GRCm38)	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,871,727 (GRCm38)		probably null	Het
Mmp11	A	G	10: 75,923,984 (GRCm38)	*4R	probably null	Het
Myom1	A	T	17: 71,082,488 (GRCm38)	D911V	probably benign	Het
Nid1	A	G	13: 13,463,782 (GRCm38)	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,353,172 (GRCm38)	V839L	probably benign	Het
Notch3	A	T	17: 32,151,154 (GRCm38)		probably null	Het
Olfr1082	T	C	2: 86,594,067 (GRCm38)	T254A	possibly damaging	Het
Pcdh8	T	C	14: 79,767,651 (GRCm38)	H978R	probably benign	Het
Pde8b	A	T	13: 95,042,000 (GRCm38)	C537*	probably null	Het
Polr1b	T	C	2: 129,125,446 (GRCm38)	F920L	probably damaging	Het
Polr2f	A	G	15: 79,151,373 (GRCm38)	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421 (GRCm38)	H133L	probably damaging	Het
Ptk2b	T	A	14: 66,178,831 (GRCm38)	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,244,133 (GRCm38)	M343K	probably benign	Het
Rlf	G	A	4: 121,148,610 (GRCm38)	R1058W	probably damaging	Het
S100z	T	A	13: 95,478,574 (GRCm38)	K28*	probably null	Het
Scarf1	T	A	11: 75,520,315 (GRCm38)	N273K	probably benign	Het
Setd2	A	G	9: 110,556,366 (GRCm38)	I136M	unknown	Het
Sfrp2	A	G	3: 83,766,984 (GRCm38)	D148G	probably benign	Het
Slc24a4	A	G	12: 102,254,510 (GRCm38)	E400G	probably benign	Het
Slc2a9	T	G	5: 38,453,121 (GRCm38)	I112L	probably benign	Het
Smc5	A	T	19: 23,208,948 (GRCm38)	Y972*	probably null	Het
Sntg1	T	C	1: 8,445,024 (GRCm38)		probably null	Het
Stag1	A	G	9: 100,757,733 (GRCm38)	D114G	probably damaging	Het
Suclg1	T	C	6: 73,256,209 (GRCm38)	S46P	probably damaging	Het
Synj1	C	T	16: 90,946,815 (GRCm38)	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,755,447 (GRCm38)	T240A	probably benign	Het
Tax1bp1	T	C	6: 52,744,356 (GRCm38)		probably null	Het
Tchh	C	A	3: 93,447,851 (GRCm38)	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,962,170 (GRCm38)	T887A	probably benign	Het
Ttn	T	C	2: 76,706,593 (GRCm38)	I34963V	probably benign	Het
Unc79	G	A	12: 103,112,619 (GRCm38)	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355 (GRCm38)	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,382,605 (GRCm38)	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,990,491 (GRCm38)	N337K	probably benign	Het
Zfp260	T	A	7: 30,104,842 (GRCm38)	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,292,682 (GRCm38)	E610K	probably damaging	Het

Other mutations in Adam6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Adam6a	APN	12	113,545,225 (GRCm38)	missense	probably benign	0.00
IGL00896:Adam6a	APN	12	113,545,410 (GRCm38)	missense	possibly damaging	0.56
IGL01146:Adam6a	APN	12	113,544,220 (GRCm38)	missense	probably damaging	1.00
IGL01285:Adam6a	APN	12	113,546,273 (GRCm38)	makesense	probably null
IGL01839:Adam6a	APN	12	113,544,622 (GRCm38)	missense	probably benign	0.03
IGL01906:Adam6a	APN	12	113,544,331 (GRCm38)	missense	probably benign	0.19
IGL02306:Adam6a	APN	12	113,545,723 (GRCm38)	missense	possibly damaging	0.93
IGL03146:Adam6a	APN	12	113,545,524 (GRCm38)	missense	probably damaging	1.00
IGL03176:Adam6a	APN	12	113,546,202 (GRCm38)	missense	probably benign	0.00
IGL03365:Adam6a	APN	12	113,544,145 (GRCm38)	missense	possibly damaging	0.86
IGL03373:Adam6a	APN	12	113,545,552 (GRCm38)	missense	possibly damaging	0.55
PIT4802001:Adam6a	UTSW	12	113,545,458 (GRCm38)	missense	probably damaging	1.00
R0091:Adam6a	UTSW	12	113,544,229 (GRCm38)	missense	possibly damaging	0.46
R0149:Adam6a	UTSW	12	113,545,749 (GRCm38)	missense	probably damaging	1.00
R0348:Adam6a	UTSW	12	113,544,717 (GRCm38)	missense	probably damaging	0.99
R0376:Adam6a	UTSW	12	113,544,690 (GRCm38)	missense	probably damaging	1.00
R1471:Adam6a	UTSW	12	113,544,393 (GRCm38)	missense	probably damaging	1.00
R1474:Adam6a	UTSW	12	113,544,449 (GRCm38)	missense	possibly damaging	0.66
R1553:Adam6a	UTSW	12	113,545,215 (GRCm38)	missense	probably damaging	1.00
R1679:Adam6a	UTSW	12	113,544,756 (GRCm38)	missense	probably benign	0.00
R1808:Adam6a	UTSW	12	113,544,714 (GRCm38)	missense	probably benign	0.00
R1826:Adam6a	UTSW	12	113,546,122 (GRCm38)	missense	possibly damaging	0.46
R1856:Adam6a	UTSW	12	113,545,303 (GRCm38)	missense	probably damaging	1.00
R1916:Adam6a	UTSW	12	113,545,936 (GRCm38)	missense	probably benign
R2011:Adam6a	UTSW	12	113,545,378 (GRCm38)	missense	probably benign	0.09
R2049:Adam6a	UTSW	12	113,544,429 (GRCm38)	missense	probably benign	0.17
R2364:Adam6a	UTSW	12	113,544,630 (GRCm38)	missense	probably benign	0.05
R3820:Adam6a	UTSW	12	113,544,178 (GRCm38)	missense	probably benign	0.00
R4119:Adam6a	UTSW	12	113,544,574 (GRCm38)	missense	probably benign	0.06
R4540:Adam6a	UTSW	12	113,544,499 (GRCm38)	missense	probably damaging	1.00
R4627:Adam6a	UTSW	12	113,544,949 (GRCm38)	missense	probably benign
R4665:Adam6a	UTSW	12	113,544,372 (GRCm38)	missense	possibly damaging	0.64
R4859:Adam6a	UTSW	12	113,545,989 (GRCm38)	missense	probably damaging	1.00
R4997:Adam6a	UTSW	12	113,545,371 (GRCm38)	missense	probably damaging	1.00
R5270:Adam6a	UTSW	12	113,544,127 (GRCm38)	missense	possibly damaging	0.46
R5751:Adam6a	UTSW	12	113,544,827 (GRCm38)	missense	possibly damaging	0.79
R5775:Adam6a	UTSW	12	113,546,266 (GRCm38)	missense	possibly damaging	0.47
R5863:Adam6a	UTSW	12	113,544,367 (GRCm38)	missense	probably benign	0.01
R6154:Adam6a	UTSW	12	113,545,672 (GRCm38)	missense	probably benign	0.11
R6316:Adam6a	UTSW	12	113,545,576 (GRCm38)	missense	probably benign	0.27
R6706:Adam6a	UTSW	12	113,545,266 (GRCm38)	missense	probably benign	0.00
R6845:Adam6a	UTSW	12	113,544,097 (GRCm38)	missense	possibly damaging	0.96
R7134:Adam6a	UTSW	12	113,545,035 (GRCm38)	missense	probably benign	0.04
R7179:Adam6a	UTSW	12	113,545,671 (GRCm38)	missense	probably benign	0.02
R7206:Adam6a	UTSW	12	113,546,034 (GRCm38)	missense	probably damaging	1.00
R7230:Adam6a	UTSW	12	113,545,582 (GRCm38)	missense	probably damaging	1.00
R7296:Adam6a	UTSW	12	113,545,572 (GRCm38)	missense	probably damaging	1.00
R7676:Adam6a	UTSW	12	113,544,576 (GRCm38)	missense	probably benign	0.00
R7730:Adam6a	UTSW	12	113,544,040 (GRCm38)	missense	possibly damaging	0.86
R7743:Adam6a	UTSW	12	113,544,532 (GRCm38)	missense	probably benign
R7841:Adam6a	UTSW	12	113,545,458 (GRCm38)	missense	probably damaging	1.00
R8356:Adam6a	UTSW	12	113,546,137 (GRCm38)	missense	probably benign	0.08
R8531:Adam6a	UTSW	12	113,545,297 (GRCm38)	missense	probably damaging	1.00
R9568:Adam6a	UTSW	12	113,544,400 (GRCm38)	missense	possibly damaging	0.74
R9624:Adam6a	UTSW	12	113,545,450 (GRCm38)	missense	probably damaging	1.00
R9679:Adam6a	UTSW	12	113,545,922 (GRCm38)	missense	probably benign	0.00
R9680:Adam6a	UTSW	12	113,545,864 (GRCm38)	nonsense	probably null
X0027:Adam6a	UTSW	12	113,545,243 (GRCm38)	missense	probably benign	0.01
Z1176:Adam6a	UTSW	12	113,545,321 (GRCm38)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACCGAGGCTGATCCATTTTC -3'
(R):5'- ACATGGCATCAGATCAGGAG -3'

Sequencing Primer
(F):5'- CGAGGCTGATCCATTTTCACAAG -3'
(R):5'- CATGGCATCAGATCAGGAGTATTAAG -3'

Posted On

2018-04-02