Mutagenetix > Incidental Mutation

Incidental Mutation 'R1732:Adam7'

199417

Institutional Source

Beutler Lab

Gene Symbol

Adam7

Ensembl Gene

ENSMUSG00000022056

Gene Name

a disintegrin and metallopeptidase domain 7

Synonyms

EAP1

MMRRC Submission

039764-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68734785-68771138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68735899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 781 (T781A)

Ref Sequence

ENSEMBL: ENSMUSP00000022640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022640]

AlphaFold

O35227

Predicted Effect

probably benign
Transcript: ENSMUST00000022640
AA Change: T781A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056
AA Change: T781A

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	25	156	1.6e-28	PFAM
Pfam:Reprolysin_5	197	378	1.2e-12	PFAM
Pfam:Reprolysin_4	197	382	2.6e-12	PFAM
Pfam:Reprolysin	199	393	1.3e-70	PFAM
Pfam:Reprolysin_2	219	383	1.1e-9	PFAM
Pfam:Reprolysin_3	223	346	9.5e-14	PFAM
DISIN	410	485	8.79e-30	SMART
ACR	486	623	3.51e-58	SMART
transmembrane domain	667	689	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225482

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is specifically expressed in epididymis where the encoded protein is transferred to the sperm surface during epididymal transit. This gene is located adjacent to a related gene from the ADAM family of proteins on chromosome 14. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility with decreased cell height in caput epididymis, spermatic granuloma, kinked sperm flagellum and reduced sperm motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	A	12: 71,265,995 (GRCm39)	Q1445K	probably benign	Het
Acacb	A	T	5: 114,328,148 (GRCm39)	M303L	possibly damaging	Het
Actl9	T	C	17: 33,652,096 (GRCm39)	V52A	probably damaging	Het
Agpat4	T	C	17: 12,435,615 (GRCm39)	V293A	probably benign	Het
Ank1	T	A	8: 23,601,479 (GRCm39)		probably benign	Het
Atp1a1	C	A	3: 101,492,115 (GRCm39)	G587V	probably damaging	Het
Avpr1b	T	C	1: 131,527,992 (GRCm39)	F172L	probably damaging	Het
Bmp1	A	T	14: 70,723,705 (GRCm39)	D710E	possibly damaging	Het
Cep126	A	T	9: 8,099,762 (GRCm39)	I924N	probably benign	Het
Chek2	G	T	5: 111,019,968 (GRCm39)	A517S	probably benign	Het
Cmbl	A	T	15: 31,588,378 (GRCm39)	E165D	probably damaging	Het
Cntnap3	A	T	13: 64,888,626 (GRCm39)		probably null	Het
Col1a1	A	T	11: 94,835,241 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,600,653 (GRCm39)	M624V	possibly damaging	Het
Cwc15	A	G	9: 14,421,543 (GRCm39)	D203G	probably benign	Het
Cyld	C	T	8: 89,458,295 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,302,455 (GRCm39)	I84F	probably damaging	Het
Dennd3	T	A	15: 73,409,267 (GRCm39)		probably benign	Het
Desi2	A	C	1: 178,084,217 (GRCm39)		probably benign	Het
Dmxl1	T	A	18: 50,026,511 (GRCm39)	L1873*	probably null	Het
Dmxl1	T	A	18: 50,036,055 (GRCm39)	H2359Q	probably benign	Het
Ephb4	A	G	5: 137,370,440 (GRCm39)	N880S	possibly damaging	Het
F10	T	C	8: 13,100,764 (GRCm39)	L214P	probably damaging	Het
F5	G	A	1: 164,001,719 (GRCm39)	V141M	probably damaging	Het
Fam135a	A	T	1: 24,065,734 (GRCm39)	S1022T	possibly damaging	Het
Fam13b	A	T	18: 34,620,187 (GRCm39)	N232K	probably benign	Het
Fyco1	T	C	9: 123,648,157 (GRCm39)	E1259G	probably benign	Het
Gak	A	T	5: 108,724,448 (GRCm39)	D1087E	probably benign	Het
Gm7138	A	T	10: 77,612,682 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,962 (GRCm39)		noncoding transcript	Het
Gpr25	A	G	1: 136,187,866 (GRCm39)	V249A	probably benign	Het
Hcn3	T	C	3: 89,055,426 (GRCm39)	H607R	probably damaging	Het
Hdac4	T	A	1: 91,875,257 (GRCm39)	T905S	probably benign	Het
Itgad	T	C	7: 127,804,279 (GRCm39)	S86P	probably benign	Het
Itgb4	G	T	11: 115,879,744 (GRCm39)	R632L	probably damaging	Het
Kcnb2	A	T	1: 15,779,979 (GRCm39)	T284S	probably benign	Het
Klhl22	T	A	16: 17,594,888 (GRCm39)	M339K	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mybpc2	C	A	7: 44,163,099 (GRCm39)	V484L	probably benign	Het
Noa1	A	T	5: 77,454,221 (GRCm39)	V473E	probably benign	Het
Nwd1	C	G	8: 73,393,463 (GRCm39)	S242C	possibly damaging	Het
Or55b10	C	A	7: 102,143,247 (GRCm39)	C245F	probably damaging	Het
Or7e174	A	G	9: 20,012,796 (GRCm39)	H247R	probably damaging	Het
Otof	A	T	5: 30,543,815 (GRCm39)	W535R	probably damaging	Het
Peg3	T	C	7: 6,712,084 (GRCm39)	E1046G	possibly damaging	Het
Phldb2	T	C	16: 45,577,529 (GRCm39)	E1132G	probably damaging	Het
Phtf2	A	T	5: 20,994,625 (GRCm39)		probably null	Het
Plce1	G	T	19: 38,705,282 (GRCm39)	A896S	possibly damaging	Het
Prim1	T	C	10: 127,851,193 (GRCm39)	Y26H	probably damaging	Het
Prr12	T	A	7: 44,697,780 (GRCm39)	T712S	unknown	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Ptpdc1	T	C	13: 48,740,021 (GRCm39)	E409G	probably benign	Het
Rabep1	A	G	11: 70,795,467 (GRCm39)	N274S	probably damaging	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rec114	A	G	9: 58,560,389 (GRCm39)	S206P	probably damaging	Het
Rps6ka1	A	T	4: 133,587,381 (GRCm39)	Y531N	probably damaging	Het
Slc28a2	T	C	2: 122,280,239 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 55,561,233 (GRCm39)	H566R	probably benign	Het
Slc9c1	A	G	16: 45,373,291 (GRCm39)	T290A	probably benign	Het
Smarcc1	T	A	9: 110,014,888 (GRCm39)		probably benign	Het
Srp54b	T	A	12: 55,299,544 (GRCm39)		probably null	Het
Stambpl1	C	G	19: 34,204,121 (GRCm39)	N70K	probably damaging	Het
Synj1	T	C	16: 90,761,118 (GRCm39)	K710E	probably damaging	Het
Tenm3	T	A	8: 48,763,669 (GRCm39)	D795V	probably damaging	Het
Tgm2	T	C	2: 157,976,277 (GRCm39)	Y149C	probably damaging	Het
Tmem151a	C	A	19: 5,132,895 (GRCm39)	A104S	probably damaging	Het
Top1mt	A	G	15: 75,538,100 (GRCm39)		probably null	Het
Tpgs1	T	A	10: 79,511,428 (GRCm39)	L190Q	possibly damaging	Het
Triobp	T	A	15: 78,851,428 (GRCm39)	H527Q	possibly damaging	Het
Tspan2	A	G	3: 102,676,193 (GRCm39)	I197V	probably damaging	Het
Ube3b	A	G	5: 114,525,506 (GRCm39)	I76V	probably benign	Het
Vmn1r32	A	T	6: 66,530,285 (GRCm39)	S164T	probably benign	Het
Zfp607a	G	T	7: 27,577,884 (GRCm39)	C318F	probably damaging	Het

Other mutations in Adam7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00667:Adam7	APN	14	68,759,387 (GRCm39)	missense	possibly damaging	0.68
IGL01418:Adam7	APN	14	68,762,655 (GRCm39)	missense	probably benign
IGL01934:Adam7	APN	14	68,770,048 (GRCm39)	missense	probably damaging	1.00
IGL02655:Adam7	APN	14	68,754,060 (GRCm39)	missense	probably damaging	1.00
IGL02669:Adam7	APN	14	68,745,343 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Adam7	UTSW	14	68,747,197 (GRCm39)	missense	possibly damaging	0.88
R0195:Adam7	UTSW	14	68,765,076 (GRCm39)	splice site	probably benign
R0277:Adam7	UTSW	14	68,748,306 (GRCm39)	splice site	probably null
R0362:Adam7	UTSW	14	68,747,105 (GRCm39)	splice site	probably benign
R0440:Adam7	UTSW	14	68,748,305 (GRCm39)	splice site	probably null
R0927:Adam7	UTSW	14	68,754,133 (GRCm39)	missense	probably damaging	1.00
R1172:Adam7	UTSW	14	68,752,370 (GRCm39)	missense	probably damaging	1.00
R1270:Adam7	UTSW	14	68,765,118 (GRCm39)	missense	probably damaging	0.98
R1299:Adam7	UTSW	14	68,763,748 (GRCm39)	splice site	probably benign
R1527:Adam7	UTSW	14	68,738,970 (GRCm39)	missense	probably benign	0.04
R1543:Adam7	UTSW	14	68,759,371 (GRCm39)	splice site	probably benign
R1731:Adam7	UTSW	14	68,762,805 (GRCm39)	missense	probably damaging	1.00
R1921:Adam7	UTSW	14	68,750,074 (GRCm39)	missense	possibly damaging	0.55
R2062:Adam7	UTSW	14	68,742,610 (GRCm39)	missense	probably benign	0.09
R2156:Adam7	UTSW	14	68,748,792 (GRCm39)	missense	probably benign	0.02
R2353:Adam7	UTSW	14	68,742,537 (GRCm39)	missense	probably benign	0.01
R2697:Adam7	UTSW	14	68,752,232 (GRCm39)	nonsense	probably null
R4080:Adam7	UTSW	14	68,757,988 (GRCm39)	missense	probably benign	0.05
R4775:Adam7	UTSW	14	68,745,361 (GRCm39)	missense	probably benign	0.41
R5202:Adam7	UTSW	14	68,745,305 (GRCm39)	missense	possibly damaging	0.92
R6006:Adam7	UTSW	14	68,748,845 (GRCm39)	missense	probably damaging	1.00
R6087:Adam7	UTSW	14	68,748,206 (GRCm39)	missense	probably damaging	1.00
R6376:Adam7	UTSW	14	68,742,546 (GRCm39)	missense	possibly damaging	0.78
R6417:Adam7	UTSW	14	68,742,070 (GRCm39)	missense	probably benign	0.37
R6672:Adam7	UTSW	14	68,742,151 (GRCm39)	critical splice acceptor site	probably null
R6756:Adam7	UTSW	14	68,762,728 (GRCm39)	missense	probably benign	0.00
R6777:Adam7	UTSW	14	68,762,784 (GRCm39)	missense	probably damaging	1.00
R6913:Adam7	UTSW	14	68,771,100 (GRCm39)	missense	probably benign	0.22
R7127:Adam7	UTSW	14	68,752,218 (GRCm39)	critical splice donor site	probably null
R7209:Adam7	UTSW	14	68,767,268 (GRCm39)	missense	probably damaging	1.00
R7399:Adam7	UTSW	14	68,741,915 (GRCm39)	splice site	probably null
R7675:Adam7	UTSW	14	68,737,302 (GRCm39)	missense	probably benign	0.07
R7788:Adam7	UTSW	14	68,750,094 (GRCm39)	missense	possibly damaging	0.62
R7868:Adam7	UTSW	14	68,770,090 (GRCm39)	missense	possibly damaging	0.84
R8135:Adam7	UTSW	14	68,754,022 (GRCm39)	missense	probably damaging	1.00
R8281:Adam7	UTSW	14	68,745,334 (GRCm39)	missense	possibly damaging	0.65
R8507:Adam7	UTSW	14	68,763,773 (GRCm39)	missense	probably damaging	1.00
R9049:Adam7	UTSW	14	68,762,674 (GRCm39)	missense	probably benign	0.01
R9240:Adam7	UTSW	14	68,747,208 (GRCm39)	missense	probably benign	0.02
R9429:Adam7	UTSW	14	68,771,080 (GRCm39)	missense	probably null
R9744:Adam7	UTSW	14	68,742,583 (GRCm39)	missense	probably benign	0.00
Z1176:Adam7	UTSW	14	68,765,150 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- ATTTGTGAGGCTCTACATGATCACTGTC -3'
(R):5'- CATGGCTACTATCAAAGGGGCCAG -3'

Sequencing Primer
(F):5'- CAGCAGAGAGACTTTCTATTTGGAC -3'
(R):5'- gtgcttgccgtgcaaatc -3'

Posted On

2014-05-23