Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00580:Adam6a'

4358

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam6a

Ensembl Gene

ENSMUSG00000043945

Gene Name

a disintegrin and metallopeptidase domain 6A

Synonyms

Adam6

Accession Numbers

Essential gene?

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

Stock #

IGL00580

Quality Score

Status

Chromosome

Chromosomal Location

113507528-113510034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113508845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 406 (Y406F)

Ref Sequence

ENSEMBL: ENSMUSP00000059315 (fasta)

Gene Model

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

AlphaFold

B2RSY5

Predicted Effect

probably benign
Transcript: ENSMUST00000053086
AA Change: Y406F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: Y406F

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Catsperb	T	A	12: 101,557,788 (GRCm39)	N786K	probably benign	Het
Clcnka	C	T	4: 141,118,712 (GRCm39)	W391*	probably null	Het
Col12a1	A	T	9: 79,599,508 (GRCm39)	S882T	probably benign	Het
Cyp2j12	A	G	4: 95,994,826 (GRCm39)		probably benign	Het
Cyp4f17	C	A	17: 32,743,849 (GRCm39)	Y342*	probably null	Het
Fancg	A	T	4: 43,003,910 (GRCm39)	C506*	probably null	Het
Grid2	A	T	6: 64,322,573 (GRCm39)	L524F	probably damaging	Het
Haao	C	T	17: 84,142,359 (GRCm39)		probably benign	Het
Il17re	A	G	6: 113,446,560 (GRCm39)	D256G	probably damaging	Het
Irf4	T	A	13: 30,935,767 (GRCm39)	F107L	probably damaging	Het
Kcnu1	A	T	8: 26,355,691 (GRCm39)	I232F	probably benign	Het
Kmt2b	T	A	7: 30,285,938 (GRCm39)		probably benign	Het
Maoa	T	C	X: 16,547,085 (GRCm39)	V380A	probably benign	Het
Pi4ka	T	C	16: 17,126,008 (GRCm39)	T1121A	probably benign	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Pkhd1l1	A	G	15: 44,449,870 (GRCm39)	T3878A	probably damaging	Het
Plcb2	G	A	2: 118,549,370 (GRCm39)	R331W	probably damaging	Het
Prrc2c	G	A	1: 162,525,685 (GRCm39)	P307L	unknown	Het
Psen1	C	T	12: 83,777,343 (GRCm39)	S329F	probably benign	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Serpinb9	A	G	13: 33,190,673 (GRCm39)	T50A	probably damaging	Het
Tnrc6a	T	A	7: 122,773,501 (GRCm39)	S1148T	probably damaging	Het
Zfp599	G	T	9: 22,160,768 (GRCm39)	Q466K	possibly damaging	Het
Zfp964	A	G	8: 70,112,043 (GRCm39)		probably null	Het

Other mutations in Adam6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20