Mutagenetix > Incidental Mutation

Incidental Mutation 'R7209:Adam7'

560960

Institutional Source

Beutler Lab

Gene Symbol

Adam7

Ensembl Gene

ENSMUSG00000022056

Gene Name

a disintegrin and metallopeptidase domain 7

Synonyms

EAP1

MMRRC Submission

045338-MU

Accession Numbers

Essential gene?

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

Stock #

R7209 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68734785-68771138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68767268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 61 (Y61H)

Ref Sequence

ENSEMBL: ENSMUSP00000022640 (fasta)

Gene Model

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

AlphaFold

O35227

Predicted Effect

probably damaging
Transcript: ENSMUST00000022640
AA Change: Y61H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056
AA Change: Y61H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	G	15: 74,441,797 (GRCm39)	V966G	possibly damaging	Het
Adh5	G	A	3: 138,148,909 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,333,207 (GRCm39)	V28A	probably damaging	Het
Apbb1	T	A	7: 105,215,292 (GRCm39)	I450F	probably damaging	Het
Arhgap23	C	T	11: 97,366,911 (GRCm39)	T1064I	probably damaging	Het
Arhgap23	G	C	11: 97,383,273 (GRCm39)		probably null	Het
Atg4b	A	G	1: 93,702,955 (GRCm39)	I128M	probably damaging	Het
Baat	A	T	4: 49,503,065 (GRCm39)	I19N	probably damaging	Het
Bspry	T	G	4: 62,404,852 (GRCm39)	I216S	possibly damaging	Het
Commd9	T	A	2: 101,725,483 (GRCm39)	S19T	possibly damaging	Het
Cr2	A	G	1: 194,851,032 (GRCm39)	C145R	probably damaging	Het
Cyp2c68	A	G	19: 39,677,649 (GRCm39)	L447P	probably damaging	Het
Depdc1b	T	C	13: 108,519,389 (GRCm39)	M333T	possibly damaging	Het
Dhx9	T	C	1: 153,340,369 (GRCm39)	T710A	possibly damaging	Het
Dnah5	T	C	15: 28,459,371 (GRCm39)	V4530A	possibly damaging	Het
Dohh	T	A	10: 81,221,874 (GRCm39)	H89Q	probably damaging	Het
Dop1b	T	A	16: 93,566,733 (GRCm39)	N1171K	probably benign	Het
Dscam	T	C	16: 96,451,544 (GRCm39)		probably null	Het
Entpd5	T	A	12: 84,443,702 (GRCm39)	S14C	probably benign	Het
Eqtn	G	A	4: 94,813,806 (GRCm39)	S125F	probably damaging	Het
Erp44	A	T	4: 48,211,704 (GRCm39)	D197E	probably benign	Het
Fgf18	A	T	11: 33,084,315 (GRCm39)	D46E	probably benign	Het
Foxa1	T	A	12: 57,590,077 (GRCm39)	M48L	probably benign	Het
Gabrg1	C	A	5: 70,911,513 (GRCm39)	C417F	probably damaging	Het
Glrp1	T	A	1: 88,431,004 (GRCm39)	Q122L	unknown	Het
Gm5622	A	G	14: 51,893,363 (GRCm39)	I97V	possibly damaging	Het
Gusb	A	G	5: 130,027,387 (GRCm39)	V306A	probably benign	Het
Hars1	A	G	18: 36,906,593 (GRCm39)	S126P	probably benign	Het
Herc1	A	G	9: 66,292,314 (GRCm39)	S356G	possibly damaging	Het
Hydin	C	A	8: 111,216,424 (GRCm39)	Y1336*	probably null	Het
Iftap	T	C	2: 101,396,727 (GRCm39)	*217W	probably null	Het
Kin	T	C	2: 10,096,564 (GRCm39)	Y138H	possibly damaging	Het
Lypd2	C	T	15: 74,604,266 (GRCm39)	V101M	probably benign	Het
Madcam1	A	T	10: 79,500,892 (GRCm39)	T70S	possibly damaging	Het
Man1a2	A	G	3: 100,554,395 (GRCm39)	C112R	unknown	Het
Mia2	T	A	12: 59,201,176 (GRCm39)	V198E	possibly damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Mtif2	G	A	11: 29,479,996 (GRCm39)	V21M	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nln	G	A	13: 104,209,406 (GRCm39)	Q56*	probably null	Het
Nlrp4b	T	C	7: 10,444,297 (GRCm39)	V82A	probably benign	Het
Obscn	C	A	11: 58,975,933 (GRCm39)	E2065*	probably null	Het
Or10g1	A	G	14: 52,647,550 (GRCm39)	C260R	possibly damaging	Het
Pilrb2	C	T	5: 137,869,126 (GRCm39)		probably null	Het
Plekhh1	C	A	12: 79,097,150 (GRCm39)	D99E	probably benign	Het
Polr2b	T	A	5: 77,491,026 (GRCm39)	F956I	probably damaging	Het
Ppp3cc	A	G	14: 70,504,947 (GRCm39)	F20L	probably benign	Het
Prmt9	T	C	8: 78,291,627 (GRCm39)	V333A	probably benign	Het
Psd4	T	C	2: 24,287,357 (GRCm39)	S430P	probably damaging	Het
Relch	C	A	1: 105,678,082 (GRCm39)	P1136T	probably damaging	Het
Rrp12	A	C	19: 41,861,388 (GRCm39)	V973G	possibly damaging	Het
Rxfp2	A	G	5: 149,976,563 (GRCm39)		probably null	Het
S100a6	G	A	3: 90,521,095 (GRCm39)	A8T	possibly damaging	Het
Sgsm2	C	A	11: 74,745,151 (GRCm39)	G717V	probably damaging	Het
Sipa1	A	G	19: 5,705,003 (GRCm39)	Y531H	probably damaging	Het
Slc45a1	A	C	4: 150,719,669 (GRCm39)		probably null	Het
Spopfm3	A	T	3: 94,106,012 (GRCm39)	Q110L	probably benign	Het
Srbd1	C	A	17: 86,308,948 (GRCm39)	L743F	probably damaging	Het
Taar2	A	T	10: 23,816,597 (GRCm39)	I46F	possibly damaging	Het
Tmem241	A	T	18: 12,237,229 (GRCm39)	V69D	probably damaging	Het
Tns1	T	C	1: 73,993,074 (GRCm39)	S535G	possibly damaging	Het
Trgc3	A	G	13: 19,445,334 (GRCm39)	N94S	probably benign	Het
Ttc34	C	A	4: 154,923,585 (GRCm39)	P98Q	probably damaging	Het
Ubr1	C	A	2: 120,693,246 (GRCm39)	R1720L	probably benign	Het
Ubr3	T	A	2: 69,846,478 (GRCm39)	D1597E	probably benign	Het
Unc79	T	C	12: 103,091,883 (GRCm39)	M1930T	probably benign	Het
Vmn2r100	A	T	17: 19,751,576 (GRCm39)	I603F	not run	Het
Vps26b	A	T	9: 26,921,288 (GRCm39)	S304T	probably benign	Het
Zfp952	A	T	17: 33,222,444 (GRCm39)	T308S	possibly 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
R1732:Adam7	UTSW	14	68,735,899 (GRCm39)	missense	probably benign	0.00
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
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'- GGCAACCATAATAGAACTTACCTTG -3'
(R):5'- TGTGAAGTGGCTCATACATTCC -3'

Sequencing Primer
(F):5'- GTGGACACCTGTAATCCTAGC -3'
(R):5'- GCTCATACATTCCTGATTGAGAGGC -3'

Posted On

2019-06-26