Mutagenetix > Incidental Mutation

Incidental Mutation 'R0440:Adam7'

46711

Institutional Source

Beutler Lab

Gene Symbol

Adam7

Ensembl Gene

ENSMUSG00000022056

Gene Name

a disintegrin and metallopeptidase domain 7

Synonyms

EAP1

MMRRC Submission

038641-MU

Accession Numbers

Essential gene?

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

Stock #

R0440 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

68734785-68771138 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 68748305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022640 (fasta)

Gene Model

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

AlphaFold

O35227

Predicted Effect

probably null
Transcript: ENSMUST00000022640

SMART Domains

Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,694 (GRCm39)	R30W	probably damaging	Het
Agl	A	T	3: 116,552,455 (GRCm39)	L1158Q	probably damaging	Het
Akap9	T	C	5: 4,114,569 (GRCm39)	S66P	probably damaging	Het
Akr1c20	T	A	13: 4,537,207 (GRCm39)	D316V	probably benign	Het
App	C	A	16: 84,853,302 (GRCm39)	E259*	probably null	Het
Arhgef4	A	G	1: 34,784,529 (GRCm39)		probably null	Het
Armc9	G	A	1: 86,121,984 (GRCm39)		probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Btaf1	C	T	19: 36,964,053 (GRCm39)	P875S	probably damaging	Het
Cc2d1b	T	A	4: 108,483,013 (GRCm39)		probably null	Het
Ccar1	C	T	10: 62,616,236 (GRCm39)	V165I	possibly damaging	Het
Ccdc106	A	T	7: 5,063,244 (GRCm39)	I250F	probably damaging	Het
Ccny	T	C	18: 9,332,917 (GRCm39)	I205V	probably benign	Het
Cfap52	T	A	11: 67,844,914 (GRCm39)	I52L	probably benign	Het
Chd8	T	A	14: 52,442,283 (GRCm39)	T2096S	possibly damaging	Het
Clstn3	G	A	6: 124,428,372 (GRCm39)	T423I	probably damaging	Het
Col13a1	T	C	10: 61,703,262 (GRCm39)	D440G	possibly damaging	Het
Dclk3	G	A	9: 111,298,231 (GRCm39)	V592M	probably damaging	Het
Ddx31	A	T	2: 28,747,144 (GRCm39)	I208F	probably damaging	Het
Dlat	A	T	9: 50,556,419 (GRCm39)		probably null	Het
Eml4	T	C	17: 83,753,487 (GRCm39)		probably null	Het
Enpp2	T	A	15: 54,710,633 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,244,315 (GRCm39)	S38G	possibly damaging	Het
Gcnt1	G	A	19: 17,307,680 (GRCm39)	T15I	probably benign	Het
Gm21834	T	C	17: 58,049,121 (GRCm39)	T32A	possibly damaging	Het
Golga2	A	G	2: 32,192,945 (GRCm39)	D394G	probably damaging	Het
Gtf3c4	G	T	2: 28,730,181 (GRCm39)		probably null	Het
Igkv4-69	A	G	6: 69,261,253 (GRCm39)		probably benign	Het
Inpp5j	T	C	11: 3,451,150 (GRCm39)	R500G	possibly damaging	Het
Kif5b	A	T	18: 6,226,980 (GRCm39)		probably benign	Het
Klhl36	A	G	8: 120,603,290 (GRCm39)	E515G	probably damaging	Het
Lifr	C	T	15: 7,186,672 (GRCm39)	R59*	probably null	Het
Lrif1	A	T	3: 106,641,714 (GRCm39)	Q10L	possibly damaging	Het
Lrp8	A	G	4: 107,726,295 (GRCm39)	E908G	probably damaging	Het
Lrrc23	A	T	6: 124,747,667 (GRCm39)	D307E	probably benign	Het
Mpv17l	T	C	16: 13,762,583 (GRCm39)	F27L	probably damaging	Het
Mta3	C	T	17: 84,074,016 (GRCm39)	A76V	probably damaging	Het
Muc5ac	T	A	7: 141,345,771 (GRCm39)	Y202*	probably null	Het
Naprt	A	G	15: 75,762,918 (GRCm39)		probably benign	Het
Npr2	T	A	4: 43,650,315 (GRCm39)	V960D	probably damaging	Het
Oca2	A	T	7: 56,073,100 (GRCm39)	Y765F	probably benign	Het
Or2d2	A	T	7: 106,727,939 (GRCm39)	H220Q	probably benign	Het
Plxna2	T	A	1: 194,326,712 (GRCm39)	Y215*	probably null	Het
Prdm16	G	A	4: 154,561,084 (GRCm39)		probably benign	Het
Ptn	A	G	6: 36,721,432 (GRCm39)	S3P	probably benign	Het
Pus10	T	C	11: 23,623,331 (GRCm39)		probably benign	Het
Rad21	A	T	15: 51,831,754 (GRCm39)	D442E	probably benign	Het
Rmdn2	A	G	17: 79,975,384 (GRCm39)	H291R	probably damaging	Het
Rp1	A	G	1: 4,415,863 (GRCm39)	S1750P	probably damaging	Het
Samd4b	A	T	7: 28,107,585 (GRCm39)	I228N	probably benign	Het
Sdr9c7	G	T	10: 127,734,822 (GRCm39)		probably benign	Het
Slc13a2	T	C	11: 78,294,001 (GRCm39)	N254D	probably benign	Het
Slc16a8	T	A	15: 79,136,807 (GRCm39)	I132F	probably damaging	Het
Slc18b1	T	A	10: 23,694,976 (GRCm39)	Y274N	probably benign	Het
Slc45a2	A	T	15: 11,000,903 (GRCm39)	M1L	probably benign	Het
Smc1b	A	G	15: 84,996,874 (GRCm39)		probably benign	Het
Stab2	T	C	10: 86,785,792 (GRCm39)	S617G	probably benign	Het
Stk10	A	G	11: 32,554,190 (GRCm39)	M626V	probably damaging	Het
Synpo2l	T	G	14: 20,711,466 (GRCm39)	I385L	possibly damaging	Het
Tmprss11d	T	C	5: 86,486,671 (GRCm39)	Y73C	probably damaging	Het
Ttc21b	A	G	2: 66,066,726 (GRCm39)	V309A	probably benign	Het
Tubgcp6	A	G	15: 88,987,268 (GRCm39)	I1235T	probably benign	Het
Usp8	A	G	2: 126,567,310 (GRCm39)	I110V	probably benign	Het
Vps13c	G	A	9: 67,880,143 (GRCm39)	G3442S	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Zfp207	T	A	11: 80,286,333 (GRCm39)		probably benign	Het
Zfp748	A	C	13: 67,701,144 (GRCm39)		probably null	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
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
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'- GAACCAGGGGTTTGTACTGTCCAC -3'
(R):5'- TCATTGGCGGTGAGATGCAGTC -3'

Sequencing Primer
(F):5'- ATCTGTCAGAGCAGAAGCC -3'
(R):5'- CGAGCCAGTGTACAAATGCTTTC -3'

Posted On

2013-06-11