Mutagenetix > Incidental Mutation

Incidental Mutation 'R7676:Adam6a'

592469

Institutional Source

Beutler Lab

Gene Symbol

Adam6a

Ensembl Gene

ENSMUSG00000043945

Gene Name

a disintegrin and metallopeptidase domain 6A

Synonyms

Adam6

MMRRC Submission

045647-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7676 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113507528-113510034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113508196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 190 (G190S)

Ref Sequence

ENSEMBL: ENSMUSP00000059315 (fasta)

Gene Model

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

AlphaFold

B2RSY5

Predicted Effect

probably benign
Transcript: ENSMUST00000053086
AA Change: G190S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: G190S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,185,813 (GRCm39)	D116G	possibly damaging	Het
Adnp	G	A	2: 168,025,367 (GRCm39)	R643*	probably null	Het
Akap6	A	G	12: 52,933,633 (GRCm39)	D375G	possibly damaging	Het
Aldh1l2	G	T	10: 83,343,975 (GRCm39)	A480E	probably benign	Het
Ccdc175	T	A	12: 72,148,821 (GRCm39)	Q779L	possibly damaging	Het
Dnah7b	T	G	1: 46,273,324 (GRCm39)	L2484*	probably null	Het
Dnajc21	T	C	15: 10,462,430 (GRCm39)	Y65C	possibly damaging	Het
Dnhd1	C	A	7: 105,333,294 (GRCm39)	N255K	probably benign	Het
Efhc1	G	T	1: 21,037,593 (GRCm39)	G257W	probably damaging	Het
Fars2	C	A	13: 36,389,026 (GRCm39)	L172I	probably benign	Het
Fat4	T	C	3: 38,945,846 (GRCm39)	Y1580H	probably damaging	Het
Fli1	T	A	9: 32,339,326 (GRCm39)	N253Y	probably benign	Het
Foxd3	G	T	4: 99,545,151 (GRCm39)	C97F	probably damaging	Het
Gem	C	A	4: 11,711,170 (GRCm39)	D120E	possibly damaging	Het
Ighv10-3	A	G	12: 114,487,299 (GRCm39)	C41R	probably damaging	Het
Katnip	A	G	7: 125,449,549 (GRCm39)	D897G	probably benign	Het
Kcnab3	A	G	11: 69,217,553 (GRCm39)	S16G	probably benign	Het
Keg1	T	G	19: 12,693,409 (GRCm39)	V154G	probably benign	Het
Lrrc45	G	A	11: 120,611,148 (GRCm39)	R602H	probably damaging	Het
Ltbp1	A	G	17: 75,598,292 (GRCm39)	D591G	possibly damaging	Het
Mmp10	T	A	9: 7,503,550 (GRCm39)	V140D	probably damaging	Het
Nat8f2	A	T	6: 85,845,194 (GRCm39)	M56K	probably benign	Het
Nckipsd	T	C	9: 108,692,153 (GRCm39)	F525L	probably damaging	Het
Or10ak7	A	G	4: 118,791,347 (GRCm39)	S233P	probably damaging	Het
Or10j7	T	A	1: 173,011,120 (GRCm39)	K294*	probably null	Het
Or6c6c	G	T	10: 129,541,155 (GRCm39)	S136I	possibly damaging	Het
P2ry12	T	A	3: 59,125,178 (GRCm39)	M166L	possibly damaging	Het
Palm3	T	C	8: 84,756,074 (GRCm39)	S529P	possibly damaging	Het
Pdilt	A	T	7: 119,094,220 (GRCm39)	Y344N	probably damaging	Het
Pip4k2b	A	T	11: 97,611,188 (GRCm39)	N309K	probably benign	Het
Pkd1l1	C	T	11: 8,912,708 (GRCm39)	V166I		Het
Plxdc2	C	T	2: 16,716,894 (GRCm39)	S377L	probably benign	Het
Rc3h2	A	T	2: 37,295,344 (GRCm39)	V224E	possibly damaging	Het
Stk32c	T	A	7: 138,685,220 (GRCm39)	D428V	possibly damaging	Het
Ttn	T	C	2: 76,644,951 (GRCm39)	D12968G	probably damaging	Het
Tulp2	G	T	7: 45,170,451 (GRCm39)	V457F	possibly damaging	Het
Vcan	A	T	13: 89,839,908 (GRCm39)	S1879T	probably damaging	Het
Vmn1r51	T	C	6: 90,106,437 (GRCm39)	Y118H	probably benign	Het
Zfat	A	C	15: 68,096,693 (GRCm39)	V40G	possibly 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
R4540:Adam6a	UTSW	12	113,508,119 (GRCm39)	missense	probably damaging	1.00
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
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'- CTGCAATCCATGGTCACTGTG -3'
(R):5'- CCGCATATGAAGATTGGTCAGATAG -3'

Sequencing Primer
(F):5'- GCAATCCATGGTCACTGTGGATAC -3'
(R):5'- TGGTCAGATAGGTGTCCATTAAAC -3'

Posted On

2019-11-12