Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00896:Adam6a'

28691

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: 0.064) question?

Stock #

IGL00896

Quality Score

Status

Chromosome

Chromosomal Location

113507528-113510034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113509030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 468 (T468A)

Ref Sequence

ENSEMBL: ENSMUSP00000059315 (fasta)

Gene Model

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

AlphaFold

B2RSY5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053086
AA Change: T468A

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: T468A

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,591,592 (GRCm39)	E626G	probably damaging	Het
Arhgef4	A	G	1: 34,850,777 (GRCm39)	Y1812C	possibly damaging	Het
Aurkc	T	C	7: 7,005,513 (GRCm39)	Y260H	possibly damaging	Het
Bltp1	A	G	3: 37,093,611 (GRCm39)	T4352A	probably benign	Het
Cpb1	A	G	3: 20,306,193 (GRCm39)	V329A	probably benign	Het
Cyp2d11	G	T	15: 82,275,275 (GRCm39)		probably benign	Het
Dnase1	G	A	16: 3,857,076 (GRCm39)	S28N	probably benign	Het
Drgx	C	T	14: 32,327,171 (GRCm39)		probably benign	Het
Evpl	C	A	11: 116,113,410 (GRCm39)	E1427*	probably null	Het
Gimap6	T	C	6: 48,679,394 (GRCm39)	N214S	probably benign	Het
Htr1f	A	T	16: 64,746,469 (GRCm39)	H274Q	probably benign	Het
Ipo9	A	T	1: 135,327,797 (GRCm39)	V538E	probably damaging	Het
Lmf2	T	C	15: 89,237,539 (GRCm39)	K308E	probably benign	Het
Mog	T	A	17: 37,328,377 (GRCm39)		probably null	Het
Myo19	T	C	11: 84,800,324 (GRCm39)	V903A	probably benign	Het
Myt1l	A	G	12: 29,876,885 (GRCm39)	T179A	unknown	Het
Nckap1	C	T	2: 80,411,297 (GRCm39)	V5M	possibly damaging	Het
Or1e23	T	C	11: 73,407,167 (GRCm39)	N286S	probably damaging	Het
Or51l4	T	C	7: 103,404,213 (GRCm39)	D193G	probably damaging	Het
Or9a2	A	T	6: 41,749,047 (GRCm39)	L62Q	probably damaging	Het
Pcdhb5	T	G	18: 37,455,838 (GRCm39)		probably null	Het
Pcm1	C	A	8: 41,729,160 (GRCm39)	Q711K	possibly damaging	Het
Pde6a	A	G	18: 61,353,864 (GRCm39)	D63G	possibly damaging	Het
Piezo1	T	C	8: 123,224,609 (GRCm39)	M711V	possibly damaging	Het
Rev1	G	A	1: 38,138,021 (GRCm39)	T88I	probably damaging	Het
Sntg1	A	T	1: 8,665,634 (GRCm39)		probably null	Het
Sult2a1	T	A	7: 13,566,565 (GRCm39)	T137S	probably benign	Het
Txndc15	G	A	13: 55,873,488 (GRCm39)	A283T	probably damaging	Het
Zswim8	A	G	14: 20,766,069 (GRCm39)	E785G	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
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

2013-04-17