Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01146:Adam6a'

52511

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 #

IGL01146

Quality Score

Status

Chromosome

Chromosomal Location

113507528-113510034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113507840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 71 (Y71F)

Ref Sequence

ENSEMBL: ENSMUSP00000059315 (fasta)

Gene Model

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

AlphaFold

B2RSY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000053086
AA Change: Y71F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: Y71F

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	C	6: 40,943,217 (GRCm39)	I54T	probably damaging	Het
Acss2	T	C	2: 155,403,957 (GRCm39)	V701A	possibly damaging	Het
Arhgef37	A	T	18: 61,651,081 (GRCm39)	I148N	possibly damaging	Het
Bhlhe40	T	C	6: 108,641,901 (GRCm39)	S282P	possibly damaging	Het
Bmp2	A	T	2: 133,403,220 (GRCm39)	Q257L	probably benign	Het
C2cd4d	A	G	3: 94,271,770 (GRCm39)		probably benign	Het
Calcr	T	A	6: 3,700,144 (GRCm39)	Y316F	possibly damaging	Het
Ccdc186	T	C	19: 56,797,749 (GRCm39)	E274G	probably damaging	Het
Cdc34b	G	T	11: 94,633,420 (GRCm39)	D207Y	probably benign	Het
Chst5	C	T	8: 112,617,314 (GRCm39)	C102Y	probably damaging	Het
Cnbd2	T	A	2: 156,154,534 (GRCm39)		probably benign	Het
Dnaaf9	C	T	2: 130,612,591 (GRCm39)		probably null	Het
Dnm1l	T	C	16: 16,132,189 (GRCm39)	D549G	probably benign	Het
Gm4847	T	A	1: 166,462,521 (GRCm39)	D323V	probably damaging	Het
Gm9843	G	A	16: 76,200,255 (GRCm39)		noncoding transcript	Het
Gopc	A	G	10: 52,234,963 (GRCm39)	V120A	probably benign	Het
Kmt2c	T	G	5: 25,513,510 (GRCm39)	M3095L	probably damaging	Het
Man1a	T	C	10: 53,783,615 (GRCm39)	E629G	possibly damaging	Het
Pde4b	T	A	4: 102,112,460 (GRCm39)	S12T	possibly damaging	Het
Phf2	A	T	13: 48,973,083 (GRCm39)	L391Q	unknown	Het
Phf8-ps	A	G	17: 33,284,357 (GRCm39)	L815S	possibly damaging	Het
Plekha7	G	A	7: 115,756,708 (GRCm39)		probably benign	Het
Pmpcb	T	A	5: 21,945,476 (GRCm39)		probably benign	Het
Poc1a	T	C	9: 106,182,503 (GRCm39)	Y285H	probably benign	Het
Polr1e	T	C	4: 45,031,369 (GRCm39)	L387S	probably damaging	Het
Prr9	A	T	3: 92,030,504 (GRCm39)	C45*	probably null	Het
Rnf157	T	C	11: 116,240,912 (GRCm39)	H393R	probably benign	Het
Rps6ka4	A	G	19: 6,808,496 (GRCm39)	F554L	probably damaging	Het
Sez6l	A	G	5: 112,576,275 (GRCm39)	S861P	probably damaging	Het
Sh3tc2	G	T	18: 62,122,582 (GRCm39)	D448Y	probably damaging	Het
Smg6	T	G	11: 74,821,254 (GRCm39)	Y508*	probably null	Het
Sult6b2	C	T	6: 142,750,034 (GRCm39)	G28D	probably benign	Het
Traf2	C	A	2: 25,414,931 (GRCm39)	C303F	probably benign	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
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

2013-06-21