Mutagenetix > Incidental Mutation

Incidental Mutation 'R9457:Adam11'

714668

Institutional Source

Beutler Lab

Gene Symbol

Adam11

Ensembl Gene

ENSMUSG00000020926

Gene Name

a disintegrin and metallopeptidase domain 11

Synonyms

Mdc

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102761439-102780262 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102769898 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 85 (V85G)

Ref Sequence

ENSEMBL: ENSMUSP00000069466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068150] [ENSMUST00000103081]

AlphaFold

Q9R1V4

Predicted Effect

probably benign
Transcript: ENSMUST00000068150
AA Change: V85G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069466
Gene: ENSMUSG00000020926
AA Change: V85G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	50	193	5.7e-29	PFAM
Pfam:Reprolysin_5	241	390	2.1e-9	PFAM
Pfam:Reprolysin	243	442	1.1e-68	PFAM
Pfam:Reprolysin_3	267	378	1.3e-9	PFAM
DISIN	457	533	3.91e-36	SMART
ACR	534	673	2.76e-56	SMART
EGF	680	714	2.32e-1	SMART
transmembrane domain	740	762	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103081
AA Change: V85G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099370
Gene: ENSMUSG00000020926
AA Change: V85G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	49	193	1.1e-28	PFAM
Pfam:Reprolysin_5	241	390	2.3e-9	PFAM
Pfam:Reprolysin	243	442	5.3e-62	PFAM
Pfam:Reprolysin_3	267	385	4.5e-9	PFAM
DISIN	457	533	3.91e-36	SMART
ACR	534	673	2.76e-56	SMART
EGF	680	714	2.32e-1	SMART
transmembrane domain	740	762	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. The protein encoded by this gene is believed to lack metalloproteinase activity due to the lack of a critical catalytic motif. Mice lacking the encoded protein exhibit defects in spatial learning, motor coordination and altered perception of pain. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	A	G	18: 12,179,246	H181R	probably benign	Het
4930404N11Rik	C	A	10: 81,365,777	V4L	probably benign	Het
4930430A15Rik	A	T	2: 111,170,286	M196K	unknown	Het
4932415D10Rik	A	G	10: 82,286,739	V3479A	probably benign	Het
A930009A15Rik	T	C	10: 115,578,331	L54P	unknown	Het
Ablim3	A	G	18: 61,845,849	S204P	probably benign	Het
Acadl	A	G	1: 66,853,241	V141A	probably benign	Het
Ace3	A	G	11: 105,994,861	D31G	probably benign	Het
Adarb1	A	T	10: 77,322,148	M155K	possibly damaging	Het
Arhgap10	G	A	8: 77,384,786	T376M	probably benign	Het
Bod1l	G	T	5: 41,821,967	T668K	probably damaging	Het
Ccdc87	A	G	19: 4,841,631	E717G	probably damaging	Het
Cdh17	T	A	4: 11,771,329	I37N	probably damaging	Het
Cfap99	T	G	5: 34,301,397	F45L	probably benign	Het
Chsy1	C	A	7: 66,172,400	H794Q	probably benign	Het
Clec4a3	G	A	6: 122,954,086	V45I	probably benign	Het
Clic3	G	A	2: 25,457,718	V32I	probably benign	Het
Clip2	A	T	5: 134,502,730	D740E	probably benign	Het
Col5a2	C	T	1: 45,386,844	V1062I	probably benign	Het
Col5a2	A	G	1: 45,392,813		probably null	Het
Cyp2j11	C	T	4: 96,307,359	V367I	probably damaging	Het
Ddr1	C	T	17: 35,682,758	A821T	possibly damaging	Het
Dna2	G	A	10: 62,950,793	E107K	probably benign	Het
Eif3d	A	G	15: 77,959,694	V484A	probably benign	Het
Fgfr4	A	G	13: 55,161,127	T354A	probably benign	Het
Fkbp6	T	C	5: 135,349,632	D54G	probably benign	Het
Gm4787	T	A	12: 81,379,246	E46V	probably damaging	Het
Gm47995	A	G	1: 151,198,475	T10A	possibly damaging	Het
Gm498	T	C	7: 143,883,976	V137A	possibly damaging	Het
Gnb1l	T	A	16: 18,540,995	I50N	probably damaging	Het
Gphb5	A	T	12: 75,415,749	V22D	probably damaging	Het
Gstt4	C	T	10: 75,815,125	C221Y	probably benign	Het
Hmces	T	C	6: 87,933,274	V222A	possibly damaging	Het
Kat14	T	A	2: 144,373,782	D62E	probably benign	Het
Kcnmb2	T	A	3: 32,181,869	V89E	probably benign	Het
Kif23	T	A	9: 61,944,225	N63I	probably benign	Het
Lamc2	T	C	1: 153,139,854	M578V	probably benign	Het
Ltbp2	A	T	12: 84,789,153	C1335S	probably benign	Het
Lyst	A	G	13: 13,687,745	E2622G	possibly damaging	Het
Mctp1	A	T	13: 76,384,674	H47L	probably benign	Het
Micalcl	A	G	7: 112,411,458	K618R	probably damaging	Het
Mllt6	T	C	11: 97,665,760	I92T	probably benign	Het
Morc2a	A	G	11: 3,676,184	I223V	probably benign	Het
Msh3	A	T	13: 92,345,086	I306N	probably benign	Het
Myo3b	T	A	2: 70,095,209	S35T	probably benign	Het
Nfkbiz	A	T	16: 55,813,984	V700E	probably damaging	Het
Oit3	T	A	10: 59,441,683	M1L	unknown	Het
Olfr1048	A	T	2: 86,236,472	I114K	probably damaging	Het
Olfr1231	A	T	2: 89,302,731	I287N	probably damaging	Het
Olfr606	T	A	7: 103,451,411	F25I	probably benign	Het
Peg3	T	G	7: 6,707,999	D1408A	probably damaging	Het
Plaa	A	C	4: 94,586,883	S201R	possibly damaging	Het
Psmd5	A	G	2: 34,854,326	S395P	probably benign	Het
Ralgapa2	T	C	2: 146,334,554	I1701V	probably damaging	Het
Rnf32	G	A	5: 29,206,186	A157T	probably damaging	Het
Rrad	T	A	8: 104,629,727		probably null	Het
Samm50	T	A	15: 84,207,841	L339Q	probably damaging	Het
Scin	T	C	12: 40,104,958	E212G	possibly damaging	Het
Scrib	T	C	15: 76,067,299	D146G	probably damaging	Het
Slc19a1	G	A	10: 77,049,771	D502N	probably benign	Het
Slc4a4	T	C	5: 89,214,573	S839P	probably damaging	Het
Slc4a8	A	G	15: 100,806,260	D764G	probably damaging	Het
Slc6a19	G	A	13: 73,681,765	A590V	probably damaging	Het
Slfn8	G	T	11: 83,017,706	H4N	probably benign	Het
Smad9	T	A	3: 54,789,335	F274I	possibly damaging	Het
Snx4	A	G	16: 33,286,010	E271G	probably benign	Het
Thap4	G	A	1: 93,750,306	R253*	probably null	Het
Tmem65	T	A	15: 58,790,179	I144F		Het
Tnrc6a	G	A	7: 123,179,735	R1223Q	probably benign	Het
Traf7	CA	CAA	17: 24,527,763		probably benign	Het
Trpm2	T	C	10: 77,911,392	Y1424C	possibly damaging	Het
Trrap	T	A	5: 144,826,668	Y2457N	probably damaging	Het
Vmn1r7	A	G	6: 57,024,523	S251P	probably damaging	Het
Vmn2r89	A	T	14: 51,456,012	E273V	probably damaging	Het
Vps52	A	G	17: 33,962,182	D466G	probably damaging	Het
Xirp2	T	C	2: 67,515,632	V2739A	probably benign	Het
Zc3h4	C	T	7: 16,434,750	S1003F	unknown	Het
Zyg11a	A	T	4: 108,217,905	H6Q	probably damaging	Het

Other mutations in Adam11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Adam11	APN	11	102776831	missense	probably benign	0.40
IGL00497:Adam11	APN	11	102770147	missense	probably damaging	1.00
IGL00570:Adam11	APN	11	102776350	missense	possibly damaging	0.76
IGL01875:Adam11	APN	11	102772856	missense	probably damaging	1.00
IGL01945:Adam11	APN	11	102772910	missense	probably damaging	0.99
IGL02266:Adam11	APN	11	102772667	missense	probably damaging	1.00
IGL02702:Adam11	APN	11	102777038	missense	probably benign	0.26
IGL03395:Adam11	APN	11	102772920	missense	probably damaging	1.00
G1citation:Adam11	UTSW	11	102776675	missense	possibly damaging	0.68
R0091:Adam11	UTSW	11	102772839	missense	probably damaging	1.00
R0135:Adam11	UTSW	11	102776573	missense	probably damaging	1.00
R1068:Adam11	UTSW	11	102776378	missense	probably damaging	1.00
R1529:Adam11	UTSW	11	102775113	critical splice donor site	probably null
R2197:Adam11	UTSW	11	102769924	missense	possibly damaging	0.94
R2357:Adam11	UTSW	11	102774508	missense	probably benign
R3082:Adam11	UTSW	11	102770117	splice site	probably benign
R3784:Adam11	UTSW	11	102774367	critical splice donor site	probably null
R5254:Adam11	UTSW	11	102774272	nonsense	probably null
R5367:Adam11	UTSW	11	102773653	missense	probably benign	0.00
R5444:Adam11	UTSW	11	102772848	missense	probably damaging	1.00
R5699:Adam11	UTSW	11	102773640	missense	probably benign	0.00
R5881:Adam11	UTSW	11	102773810	missense	probably benign	0.17
R6193:Adam11	UTSW	11	102771261	missense	probably benign
R6422:Adam11	UTSW	11	102774283	missense	possibly damaging	0.95
R6798:Adam11	UTSW	11	102777008	missense	probably damaging	1.00
R6822:Adam11	UTSW	11	102776675	missense	possibly damaging	0.68
R7173:Adam11	UTSW	11	102771931	missense	possibly damaging	0.93
R7207:Adam11	UTSW	11	102772057	missense	probably benign	0.03
R7719:Adam11	UTSW	11	102772477	missense	probably benign	0.01
R8341:Adam11	UTSW	11	102776536	missense	probably damaging	1.00
R8951:Adam11	UTSW	11	102774367	critical splice donor site	probably null
R9309:Adam11	UTSW	11	102772884	missense	probably damaging	1.00
R9747:Adam11	UTSW	11	102772669	missense	probably damaging	1.00
R9786:Adam11	UTSW	11	102762264	missense	probably benign	0.00
X0023:Adam11	UTSW	11	102774630	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTCCCTGATTCTCAAGGAGAC -3'
(R):5'- AAGTCCTGCTTAGGTCCCAC -3'

Sequencing Primer
(F):5'- GTCCCTGATTCTCAAGGAGACTAACC -3'
(R):5'- GGATCTACATCCACCAGTAC -3'

Posted On

2022-06-15