Mutagenetix > Incidental Mutation

Incidental Mutation 'R2393:Adam4'

247887

Institutional Source

Beutler Lab

Gene Symbol

Adam4

Ensembl Gene

ENSMUSG00000072972

Gene Name

a disintegrin and metallopeptidase domain 4

Synonyms

tMDCV

MMRRC Submission

040361-MU

Accession Numbers

Essential gene?

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

Stock #

R2393 (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 81467485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 379 (F379I)

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: F379I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000082427
Gene: ENSMUSG00000072972
AA Change: F379I

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,225,057 (GRCm39)	L512*	probably null	Het
Ano6	C	G	15: 95,863,906 (GRCm39)		probably benign	Het
Apc2	A	G	10: 80,148,903 (GRCm39)	E1319G	possibly damaging	Het
Arfgef3	A	G	10: 18,473,535 (GRCm39)	V1588A	possibly damaging	Het
Arl8a	T	A	1: 135,080,604 (GRCm39)	V93E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cd200r2	T	A	16: 44,729,630 (GRCm39)	I95N	probably damaging	Het
Cd209d	A	G	8: 3,928,436 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,397,100 (GRCm39)		probably null	Het
Chd2	G	T	7: 73,157,631 (GRCm39)	D171E	possibly damaging	Het
Chrna7	G	A	7: 62,748,994 (GRCm39)	A496V	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Colgalt1	C	G	8: 72,076,385 (GRCm39)	T612S	probably benign	Het
Copg2	T	C	6: 30,787,893 (GRCm39)	K602E	probably benign	Het
Crtc1	T	A	8: 70,840,808 (GRCm39)	T473S	probably benign	Het
Ctbp2	A	T	7: 132,625,290 (GRCm39)		probably null	Het
Edem1	T	G	6: 108,829,504 (GRCm39)	M541R	probably damaging	Het
Ehmt1	A	C	2: 24,696,229 (GRCm39)	V953G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr2	T	C	7: 129,828,968 (GRCm39)		probably null	Het
Focad	A	G	4: 88,039,567 (GRCm39)	D10G	probably damaging	Het
Gfus	G	T	15: 75,798,200 (GRCm39)	L191I	probably damaging	Het
Gm5901	G	T	7: 105,026,996 (GRCm39)	V255F	possibly damaging	Het
Hsp90aa1	T	C	12: 110,659,840 (GRCm39)	N416S	probably damaging	Het
Hspb1	T	C	5: 135,917,950 (GRCm39)	F142L	probably benign	Het
Il17re	C	T	6: 113,439,314 (GRCm39)	H75Y	possibly damaging	Het
Kctd3	A	G	1: 188,713,568 (GRCm39)	I389T	probably damaging	Het
Lhx6	T	C	2: 35,981,402 (GRCm39)	D63G	probably benign	Het
Mepe	A	G	5: 104,485,327 (GRCm39)	T156A	possibly damaging	Het
Met	A	G	6: 17,534,197 (GRCm39)	Y680C	probably damaging	Het
Mrgpra3	T	C	7: 47,239,365 (GRCm39)	Y187C	possibly damaging	Het
Mst1	T	G	9: 107,960,151 (GRCm39)		probably null	Het
Myh13	T	A	11: 67,231,184 (GRCm39)	S394T	possibly damaging	Het
Nbeal1	T	A	1: 60,290,529 (GRCm39)	V1042E	probably damaging	Het
Ndrg4	T	A	8: 96,432,839 (GRCm39)	Y15*	probably null	Het
Neurl4	G	A	11: 69,797,900 (GRCm39)	R720H	probably damaging	Het
Nfkbia	A	G	12: 55,537,455 (GRCm39)		probably benign	Het
Nwd1	T	A	8: 73,389,055 (GRCm39)	M202K	probably benign	Het
Or10d4	G	T	9: 39,580,569 (GRCm39)	C72F	possibly damaging	Het
Or2av9	T	A	11: 58,381,546 (GRCm39)	I12F	probably benign	Het
Pate2	T	C	9: 35,581,036 (GRCm39)		probably benign	Het
Pibf1	A	G	14: 99,480,368 (GRCm39)	T715A	probably benign	Het
Pitpnm1	T	C	19: 4,160,935 (GRCm39)	L858P	probably benign	Het
Pla2g3	A	C	11: 3,443,115 (GRCm39)	S483R	probably benign	Het
Rad51ap2	T	A	12: 11,507,798 (GRCm39)	D573E	probably damaging	Het
Rho	T	C	6: 115,912,352 (GRCm39)		probably benign	Het
Rpl39l	A	T	16: 9,992,328 (GRCm39)	*52L	probably null	Het
Slco1a5	T	A	6: 142,194,501 (GRCm39)	R381W	possibly damaging	Het
Spns3	T	A	11: 72,441,059 (GRCm39)		probably benign	Het
Srgap2	A	G	1: 131,259,872 (GRCm39)	S493P	probably benign	Het
Tecpr2	T	C	12: 110,892,836 (GRCm39)	S293P	probably damaging	Het
Ttn	C	T	2: 76,583,211 (GRCm39)	V20815M	probably benign	Het
Ushbp1	T	C	8: 71,847,132 (GRCm39)	I167V	probably benign	Het
Wdr81	C	T	11: 75,340,231 (GRCm39)	A1296T	probably damaging	Het
Zmym2	A	G	14: 57,158,180 (GRCm39)	Y573C	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
R2923:Adam4	UTSW	12	81,467,518 (GRCm39)	missense	probably damaging	1.00
R3411:Adam4	UTSW	12	81,466,596 (GRCm39)	missense	possibly damaging	0.64
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'- ACAGTCACATTTCTCACTGGCC -3'
(R):5'- CGATTTGTATGCCACTACAGC -3'

Sequencing Primer
(F):5'- CTCCACTCTCTTATTTCCACAACGAG -3'
(R):5'- GATTTGTATGCCACTACAGCTATTC -3'

Posted On

2014-11-11