Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Adam4'

281068

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam4

Ensembl Gene

ENSMUSG00000072972

Gene Name

a disintegrin and metallopeptidase domain 4

Synonyms

tMDCV

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

81419443-81421946 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81420029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 606 (V606A)

Ref Sequence

ENSEMBL: ENSMUSP00000082427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085319] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]

AlphaFold

Q8CGQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000085319
AA Change: V606A

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000082427
Gene: ENSMUSG00000072972
AA Change: V606A

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Pep_M12B_propep	46	163	9e-19	PFAM
Pfam:Reprolysin	213	406	1.3e-16	PFAM
DISIN	429	504	4.89e-37	SMART
ACR	505	648	2.28e-57	SMART
transmembrane domain	718	740	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

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
1700011H14Rik	T	A	14: 49,232,967	Q165L	probably benign	Het
9530068E07Rik	G	T	11: 52,403,510	A193S	probably damaging	Het
Atp2c2	A	G	8: 119,754,335	I821V	probably benign	Het
Bmi1	A	T	2: 18,683,677	R160W	probably damaging	Het
Ccdc88c	G	A	12: 100,940,090	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,751,673		probably benign	Het
Col20a1	C	T	2: 181,007,144	T940I	probably damaging	Het
Csmd3	A	C	15: 47,857,942	M1535R	possibly damaging	Het
Dhx38	C	A	8: 109,558,241	E487*	probably null	Het
Fam186b	A	G	15: 99,273,703	S888P	probably damaging	Het
Fancm	G	A	12: 65,106,475	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946	W262*	probably null	Het
Gtdc1	A	T	2: 44,575,443	M305K	probably damaging	Het
H2-M9	T	C	17: 36,641,737	E139G	possibly damaging	Het
Haus1	A	T	18: 77,766,911	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,046,587	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,819,134	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,121,732		probably benign	Het
Kndc1	A	G	7: 139,920,767	T683A	probably benign	Het
Ldhb	A	T	6: 142,492,500	M277K	probably benign	Het
Mgam	T	C	6: 40,643,076	L33P	probably damaging	Het
Ndst1	A	G	18: 60,699,546	F571L	probably benign	Het
Neb	G	T	2: 52,212,804		probably null	Het
Nrxn1	A	G	17: 90,643,243	S503P	probably damaging	Het
Paqr3	A	G	5: 97,095,931	V308A	probably benign	Het
Scnn1g	T	C	7: 121,743,699	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,516	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,627,396	E683V	probably benign	Het
Tprkb	T	C	6: 85,927,911	V123A	probably benign	Het
Ush2a	T	C	1: 188,443,343	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,586,557		probably null	Het
Wls	A	G	3: 159,897,370	Y140C	probably damaging	Het
Zan	A	G	5: 137,411,498	S28P	possibly damaging	Het

Other mutations in Adam4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Adam4	APN	12	81420649	missense	probably damaging	0.96
IGL01133:Adam4	APN	12	81421446	missense	possibly damaging	0.53
IGL01636:Adam4	APN	12	81419949	missense	possibly damaging	0.81
IGL02137:Adam4	APN	12	81421103	missense	possibly damaging	0.91
IGL02425:Adam4	APN	12	81421328	missense	probably benign	0.07
IGL02686:Adam4	APN	12	81421674	missense	possibly damaging	0.88
R0554:Adam4	UTSW	12	81421424	missense	probably damaging	1.00
R0684:Adam4	UTSW	12	81419654	missense	probably damaging	1.00
R1519:Adam4	UTSW	12	81420877	missense	possibly damaging	0.67
R1636:Adam4	UTSW	12	81419690	missense	probably damaging	0.98
R1795:Adam4	UTSW	12	81421294	missense	probably benign	0.03
R1835:Adam4	UTSW	12	81419559	missense	probably benign	0.00
R2158:Adam4	UTSW	12	81421763	missense	probably damaging	1.00
R2393:Adam4	UTSW	12	81420711	missense	probably benign	0.02
R2923:Adam4	UTSW	12	81420744	missense	probably damaging	1.00
R3411:Adam4	UTSW	12	81419822	missense	possibly damaging	0.64
R4159:Adam4	UTSW	12	81420032	missense	probably damaging	0.99
R4509:Adam4	UTSW	12	81421747	nonsense	probably null
R4673:Adam4	UTSW	12	81421761	missense	possibly damaging	0.56
R4794:Adam4	UTSW	12	81421424	missense	probably damaging	0.99
R5564:Adam4	UTSW	12	81419574	missense	probably benign	0.00
R5774:Adam4	UTSW	12	81420686	missense	probably damaging	1.00
R6054:Adam4	UTSW	12	81420054	missense	probably damaging	0.99
R6722:Adam4	UTSW	12	81421454	missense	probably damaging	1.00
R6857:Adam4	UTSW	12	81419949	missense	possibly damaging	0.81
R7316:Adam4	UTSW	12	81419724	missense	probably benign	0.08
R7393:Adam4	UTSW	12	81419660	missense	probably benign	0.01
R7649:Adam4	UTSW	12	81420377	missense	probably damaging	1.00
R8245:Adam4	UTSW	12	81419883	missense	probably damaging	1.00
R8293:Adam4	UTSW	12	81420411	nonsense	probably null
R8729:Adam4	UTSW	12	81421402	nonsense	probably null
R8954:Adam4	UTSW	12	81420372	missense	possibly damaging	0.90
R9170:Adam4	UTSW	12	81419742	missense	probably benign	0.00
R9360:Adam4	UTSW	12	81421487	missense	probably damaging	1.00
R9433:Adam4	UTSW	12	81419949	missense	possibly damaging	0.81
R9452:Adam4	UTSW	12	81420297	missense	probably benign	0.05

Posted On

2015-04-16