Mutagenetix > Incidental Mutation

Incidental Mutation 'R3411:Adam4'

267730

Institutional Source

Beutler Lab

Gene Symbol

Adam4

Ensembl Gene

ENSMUSG00000072972

Gene Name

a disintegrin and metallopeptidase domain 4

Synonyms

tMDCV

MMRRC Submission

040629-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R3411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81466217-81468720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81466596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 675 (V675D)

Ref Sequence

ENSEMBL: ENSMUSP00000082427 (fasta)

Gene Model

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

AlphaFold

Q8CGQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085319
AA Change: V675D

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000082427
Gene: ENSMUSG00000072972
AA Change: V675D

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	C	13: 70,901,345 (GRCm39)	T911A	probably benign	Het
Adgra1	T	C	7: 139,427,619 (GRCm39)	F62S	possibly damaging	Het
Adgra3	A	G	5: 50,159,272 (GRCm39)	V326A	probably damaging	Het
Aff1	T	A	5: 103,902,572 (GRCm39)	M1K	probably null	Het
AI429214	C	T	8: 37,461,071 (GRCm39)	S73L	probably benign	Het
Apc	C	A	18: 34,402,312 (GRCm39)		probably benign	Het
Apcs	T	C	1: 172,722,130 (GRCm39)	Y72C	probably damaging	Het
Arid4a	T	C	12: 71,108,299 (GRCm39)		probably benign	Het
Armcx4	C	A	X: 133,591,774 (GRCm39)	Q561K	probably benign	Het
Atp5po	C	T	16: 91,725,794 (GRCm39)	R64H	probably damaging	Het
Bank1	G	A	3: 135,953,534 (GRCm39)		probably benign	Het
Ccdc150	A	G	1: 54,395,932 (GRCm39)	D805G	probably benign	Het
Ccdc88a	T	A	11: 29,436,006 (GRCm39)	C10S	probably damaging	Het
Dnah1	A	T	14: 30,991,774 (GRCm39)	M3076K	possibly damaging	Het
Dnpep	A	G	1: 75,293,270 (GRCm39)	V33A	probably damaging	Het
Egfem1	C	T	3: 29,637,170 (GRCm39)	T202I	probably damaging	Het
Fam120b	T	A	17: 15,651,897 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,881,416 (GRCm39)	T1263A	possibly damaging	Het
Gm6802	C	A	12: 19,540,621 (GRCm39)		noncoding transcript	Het
Golga2	C	A	2: 32,192,954 (GRCm39)	A424E	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Grik5	T	C	7: 24,762,397 (GRCm39)	D198G	probably benign	Het
Hcrtr2	A	G	9: 76,140,290 (GRCm39)	F333L	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Htr1b	A	C	9: 81,514,094 (GRCm39)	V171G	probably benign	Het
Kalrn	G	T	16: 34,032,642 (GRCm39)	D1117E	probably benign	Het
Kcp	T	C	6: 29,482,845 (GRCm39)	N1408S	possibly damaging	Het
Klhl7	G	T	5: 24,343,319 (GRCm39)	V212L	probably damaging	Het
Klra17	T	A	6: 129,851,809 (GRCm39)	N21I	probably damaging	Het
Lrrc8d	A	T	5: 105,974,572 (GRCm39)		noncoding transcript	Het
Mast2	C	G	4: 116,168,107 (GRCm39)	E881Q	possibly damaging	Het
Mcm6	T	C	1: 128,279,322 (GRCm39)	T155A	probably benign	Het
Mslnl	T	C	17: 25,963,491 (GRCm39)	F326L	probably benign	Het
Nlrp4c	A	G	7: 6,095,569 (GRCm39)	K816E	possibly damaging	Het
Or10g1	T	A	14: 52,647,818 (GRCm39)	R170S	possibly damaging	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or5p69	A	T	7: 107,967,551 (GRCm39)	I285F	possibly damaging	Het
Or8k3	T	C	2: 86,058,986 (GRCm39)	S110G	probably benign	Het
Otoa	A	G	7: 120,721,266 (GRCm39)	Q427R	probably damaging	Het
Pcdhb6	A	G	18: 37,468,945 (GRCm39)	E622G	probably damaging	Het
Pdzd8	A	G	19: 59,333,845 (GRCm39)	Y59H	probably damaging	Het
Psmc3	A	C	2: 90,886,263 (GRCm39)	D159A	probably damaging	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Rpn2	C	A	2: 157,132,572 (GRCm39)	A108E	possibly damaging	Het
Serpina3n	A	G	12: 104,377,536 (GRCm39)	E263G	possibly damaging	Het
Six4	A	G	12: 73,159,657 (GRCm39)	F101S	probably damaging	Het
Slc16a4	G	A	3: 107,208,188 (GRCm39)	E233K	probably benign	Het
Smu1	T	C	4: 40,752,008 (GRCm39)	T183A	probably benign	Het
Sptb	T	G	12: 76,657,589 (GRCm39)	K1311Q	possibly damaging	Het
Styxl1	T	C	5: 135,794,618 (GRCm39)	Y83C	probably damaging	Het
Sypl2	C	T	3: 108,124,045 (GRCm39)	V166I	possibly damaging	Het
Tal2	A	G	4: 53,785,843 (GRCm39)	N8S	probably damaging	Het
Tenm4	T	C	7: 96,501,737 (GRCm39)	Y1314H	probably damaging	Het
Ttn	A	C	2: 76,772,749 (GRCm39)	N2415K	possibly damaging	Het
Usp53	T	C	3: 122,743,507 (GRCm39)		probably null	Het
Vmn2r65	T	C	7: 84,595,896 (GRCm39)	I263V	probably benign	Het

Other mutations in Adam4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Adam4	APN	12	81,467,423 (GRCm39)	missense	probably damaging	0.96
IGL01133:Adam4	APN	12	81,468,220 (GRCm39)	missense	possibly damaging	0.53
IGL01636:Adam4	APN	12	81,466,723 (GRCm39)	missense	possibly damaging	0.81
IGL02133:Adam4	APN	12	81,466,803 (GRCm39)	missense	probably benign	0.37
IGL02137:Adam4	APN	12	81,467,877 (GRCm39)	missense	possibly damaging	0.91
IGL02425:Adam4	APN	12	81,468,102 (GRCm39)	missense	probably benign	0.07
IGL02686:Adam4	APN	12	81,468,448 (GRCm39)	missense	possibly damaging	0.88
R0554:Adam4	UTSW	12	81,468,198 (GRCm39)	missense	probably damaging	1.00
R0684:Adam4	UTSW	12	81,466,428 (GRCm39)	missense	probably damaging	1.00
R1519:Adam4	UTSW	12	81,467,651 (GRCm39)	missense	possibly damaging	0.67
R1636:Adam4	UTSW	12	81,466,464 (GRCm39)	missense	probably damaging	0.98
R1795:Adam4	UTSW	12	81,468,068 (GRCm39)	missense	probably benign	0.03
R1835:Adam4	UTSW	12	81,466,333 (GRCm39)	missense	probably benign	0.00
R2158:Adam4	UTSW	12	81,468,537 (GRCm39)	missense	probably damaging	1.00
R2393:Adam4	UTSW	12	81,467,485 (GRCm39)	missense	probably benign	0.02
R2923:Adam4	UTSW	12	81,467,518 (GRCm39)	missense	probably damaging	1.00
R4159:Adam4	UTSW	12	81,466,806 (GRCm39)	missense	probably damaging	0.99
R4509:Adam4	UTSW	12	81,468,521 (GRCm39)	nonsense	probably null
R4673:Adam4	UTSW	12	81,468,535 (GRCm39)	missense	possibly damaging	0.56
R4794:Adam4	UTSW	12	81,468,198 (GRCm39)	missense	probably damaging	0.99
R5564:Adam4	UTSW	12	81,466,348 (GRCm39)	missense	probably benign	0.00
R5774:Adam4	UTSW	12	81,467,460 (GRCm39)	missense	probably damaging	1.00
R6054:Adam4	UTSW	12	81,466,828 (GRCm39)	missense	probably damaging	0.99
R6722:Adam4	UTSW	12	81,468,228 (GRCm39)	missense	probably damaging	1.00
R6857:Adam4	UTSW	12	81,466,723 (GRCm39)	missense	possibly damaging	0.81
R7316:Adam4	UTSW	12	81,466,498 (GRCm39)	missense	probably benign	0.08
R7393:Adam4	UTSW	12	81,466,434 (GRCm39)	missense	probably benign	0.01
R7649:Adam4	UTSW	12	81,467,151 (GRCm39)	missense	probably damaging	1.00
R8245:Adam4	UTSW	12	81,466,657 (GRCm39)	missense	probably damaging	1.00
R8293:Adam4	UTSW	12	81,467,185 (GRCm39)	nonsense	probably null
R8729:Adam4	UTSW	12	81,468,176 (GRCm39)	nonsense	probably null
R8954:Adam4	UTSW	12	81,467,146 (GRCm39)	missense	possibly damaging	0.90
R9170:Adam4	UTSW	12	81,466,516 (GRCm39)	missense	probably benign	0.00
R9360:Adam4	UTSW	12	81,468,261 (GRCm39)	missense	probably damaging	1.00
R9433:Adam4	UTSW	12	81,466,723 (GRCm39)	missense	possibly damaging	0.81
R9452:Adam4	UTSW	12	81,467,071 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GCAGAATGTTGCTCCTCTTCTG -3'
(R):5'- TGGGACAGAACTTCCAGAAATG -3'

Sequencing Primer
(F):5'- ATTGCTTTGAAAACTGCACCC -3'
(R):5'- ACTTCCAGAAATGGGGCTTG -3'

Posted On

2015-02-18