Mutagenetix > Incidental Mutation

Incidental Mutation 'R5367:Adam11'

429429

Institutional Source

Beutler Lab

Gene Symbol

Adam11

Ensembl Gene

ENSMUSG00000020926

Gene Name

a disintegrin and metallopeptidase domain 11

Synonyms

Mdc

MMRRC Submission

042945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102652265-102671088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102664479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 389 (H389R)

Ref Sequence

ENSEMBL: ENSMUSP00000099370 (fasta)

Gene Model

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

AlphaFold

Q9R1V4

Predicted Effect

probably benign
Transcript: ENSMUST00000068150
AA Change: H389R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000069466
Gene: ENSMUSG00000020926
AA Change: H389R

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: H389R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099370
Gene: ENSMUSG00000020926
AA Change: H389R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142912

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (70/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	C	3: 59,947,057 (GRCm39)	Y252H	probably damaging	Het
Aadat	T	C	8: 60,979,630 (GRCm39)	I164T	probably damaging	Het
Alkbh5	G	T	11: 60,429,529 (GRCm39)	R94L	possibly damaging	Het
Ampd3	A	G	7: 110,407,078 (GRCm39)	K644R	possibly damaging	Het
Ankhd1	T	A	18: 36,722,461 (GRCm39)	L328H	probably damaging	Het
Ankrd55	G	T	13: 112,455,036 (GRCm39)	V45F	probably damaging	Het
Apol7c	C	A	15: 77,410,347 (GRCm39)	V200F	probably damaging	Het
Arap1	G	A	7: 101,058,337 (GRCm39)	V721M	probably damaging	Het
Arhgef40	A	G	14: 52,227,156 (GRCm39)	D400G	probably damaging	Het
Bmp4	G	T	14: 46,621,950 (GRCm39)	T198K	possibly damaging	Het
Cblb	T	A	16: 52,025,016 (GRCm39)	F970L	probably damaging	Het
Celf5	A	G	10: 81,303,098 (GRCm39)	S148P	probably damaging	Het
Ckap5	T	A	2: 91,445,486 (GRCm39)	C1708S	possibly damaging	Het
Clec2l	T	C	6: 38,654,459 (GRCm39)	F147L	possibly damaging	Het
Cnksr1	T	A	4: 133,957,525 (GRCm39)	I465F	possibly damaging	Het
Coq10b	A	G	1: 55,092,143 (GRCm39)	D37G	probably benign	Het
Cpq	T	G	15: 33,213,250 (GRCm39)	Y90D	possibly damaging	Het
Depdc1a	G	A	3: 159,229,591 (GRCm39)		probably null	Het
Eif2ak4	T	A	2: 118,266,639 (GRCm39)		probably null	Het
Eif3e	C	T	15: 43,115,700 (GRCm39)	M355I	probably damaging	Het
Eif4e1b	G	A	13: 54,934,757 (GRCm39)	V181M	probably damaging	Het
Erap1	A	G	13: 74,794,680 (GRCm39)	E113G	probably damaging	Het
Fads2	A	G	19: 10,041,649 (GRCm39)	L438P	probably damaging	Het
Fbl	T	A	7: 27,874,475 (GRCm39)	V67E	probably damaging	Het
Gde1	A	G	7: 118,304,629 (GRCm39)	L82P	probably damaging	Het
Gm10226	T	C	17: 21,910,884 (GRCm39)	S40P	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Gm1988	T	A	7: 38,823,204 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,502 (GRCm39)		noncoding transcript	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Jag1	T	A	2: 136,927,014 (GRCm39)	Q915L	possibly damaging	Het
Kdm5d	G	A	Y: 941,645 (GRCm39)	G1282D	probably benign	Het
Krt87	A	T	15: 101,384,875 (GRCm39)	L407Q	probably damaging	Het
Mlf1	A	T	3: 67,301,296 (GRCm39)	H118L	probably damaging	Het
Mmp10	G	T	9: 7,505,603 (GRCm39)	C289F	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myo9a	T	A	9: 59,807,732 (GRCm39)	S2029T	probably damaging	Het
Nap1l4	A	C	7: 143,088,035 (GRCm39)	S174R	probably damaging	Het
Nos3	A	G	5: 24,576,942 (GRCm39)	T490A	probably benign	Het
Or12d2	T	A	17: 37,625,147 (GRCm39)	I43F	probably damaging	Het
Or4k35	T	A	2: 111,100,235 (GRCm39)	Q159L	possibly damaging	Het
Or5a1	A	G	19: 12,097,800 (GRCm39)	V80A	possibly damaging	Het
Or5b106	G	A	19: 13,123,865 (GRCm39)	L53F	probably damaging	Het
Or5g23	A	T	2: 85,438,718 (GRCm39)	C179S	probably damaging	Het
Pdlim7	G	C	13: 55,653,975 (GRCm39)	T214S	probably benign	Het
Piezo2	T	C	18: 63,197,802 (GRCm39)	E1578G	probably damaging	Het
Ptcd1	T	A	5: 145,084,715 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,897,277 (GRCm39)		probably null	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scrn2	A	G	11: 96,923,953 (GRCm39)	D279G	possibly damaging	Het
Sh2d3c	A	G	2: 32,635,914 (GRCm39)	D94G	probably damaging	Het
Slc12a4	A	T	8: 106,678,266 (GRCm39)	V309E	probably damaging	Het
Slc1a6	A	G	10: 78,623,637 (GRCm39)	E12G	probably damaging	Het
Smarcal1	T	C	1: 72,635,135 (GRCm39)		probably null	Het
Smr3a	T	C	5: 88,155,897 (GRCm39)		probably benign	Het
Stox2	A	G	8: 47,656,260 (GRCm39)	I72T	probably damaging	Het
Tmem234	G	T	4: 129,494,500 (GRCm39)		probably benign	Het
Tmem35b	A	G	4: 127,018,266 (GRCm39)	Q20R	possibly damaging	Het
Tom1l2	G	A	11: 60,132,634 (GRCm39)	H430Y	probably benign	Het
Tpo	T	C	12: 30,153,289 (GRCm39)	Y355C	probably damaging	Het
Tulp2	A	G	7: 45,166,075 (GRCm39)	N122S	possibly damaging	Het
Washc2	T	A	6: 116,236,111 (GRCm39)	L1194H	probably damaging	Het
Xbp1	T	C	11: 5,471,910 (GRCm39)	V12A	probably benign	Het

Other mutations in Adam11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Adam11	APN	11	102,667,657 (GRCm39)	missense	probably benign	0.40
IGL00497:Adam11	APN	11	102,660,973 (GRCm39)	missense	probably damaging	1.00
IGL00570:Adam11	APN	11	102,667,176 (GRCm39)	missense	possibly damaging	0.76
IGL01875:Adam11	APN	11	102,663,682 (GRCm39)	missense	probably damaging	1.00
IGL01945:Adam11	APN	11	102,663,736 (GRCm39)	missense	probably damaging	0.99
IGL02266:Adam11	APN	11	102,663,493 (GRCm39)	missense	probably damaging	1.00
IGL02702:Adam11	APN	11	102,667,864 (GRCm39)	missense	probably benign	0.26
IGL03395:Adam11	APN	11	102,663,746 (GRCm39)	missense	probably damaging	1.00
G1citation:Adam11	UTSW	11	102,667,501 (GRCm39)	missense	possibly damaging	0.68
R0091:Adam11	UTSW	11	102,663,665 (GRCm39)	missense	probably damaging	1.00
R0135:Adam11	UTSW	11	102,667,399 (GRCm39)	missense	probably damaging	1.00
R1068:Adam11	UTSW	11	102,667,204 (GRCm39)	missense	probably damaging	1.00
R1529:Adam11	UTSW	11	102,665,939 (GRCm39)	critical splice donor site	probably null
R2197:Adam11	UTSW	11	102,660,750 (GRCm39)	missense	possibly damaging	0.94
R2357:Adam11	UTSW	11	102,665,334 (GRCm39)	missense	probably benign
R3082:Adam11	UTSW	11	102,660,943 (GRCm39)	splice site	probably benign
R3784:Adam11	UTSW	11	102,665,193 (GRCm39)	critical splice donor site	probably null
R5254:Adam11	UTSW	11	102,665,098 (GRCm39)	nonsense	probably null
R5444:Adam11	UTSW	11	102,663,674 (GRCm39)	missense	probably damaging	1.00
R5699:Adam11	UTSW	11	102,664,466 (GRCm39)	missense	probably benign	0.00
R5881:Adam11	UTSW	11	102,664,636 (GRCm39)	missense	probably benign	0.17
R6193:Adam11	UTSW	11	102,662,087 (GRCm39)	missense	probably benign
R6422:Adam11	UTSW	11	102,665,109 (GRCm39)	missense	possibly damaging	0.95
R6798:Adam11	UTSW	11	102,667,834 (GRCm39)	missense	probably damaging	1.00
R6822:Adam11	UTSW	11	102,667,501 (GRCm39)	missense	possibly damaging	0.68
R7173:Adam11	UTSW	11	102,662,757 (GRCm39)	missense	possibly damaging	0.93
R7207:Adam11	UTSW	11	102,662,883 (GRCm39)	missense	probably benign	0.03
R7719:Adam11	UTSW	11	102,663,303 (GRCm39)	missense	probably benign	0.01
R8341:Adam11	UTSW	11	102,667,362 (GRCm39)	missense	probably damaging	1.00
R8951:Adam11	UTSW	11	102,665,193 (GRCm39)	critical splice donor site	probably null
R9309:Adam11	UTSW	11	102,663,710 (GRCm39)	missense	probably damaging	1.00
R9457:Adam11	UTSW	11	102,660,724 (GRCm39)	missense	probably benign	0.22
R9747:Adam11	UTSW	11	102,663,495 (GRCm39)	missense	probably damaging	1.00
R9786:Adam11	UTSW	11	102,653,090 (GRCm39)	missense	probably benign	0.00
X0023:Adam11	UTSW	11	102,665,456 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGAGGCATCTGTTCACTG -3'
(R):5'- TGTCTCCAAAACTCACCCAGTG -3'

Sequencing Primer
(F):5'- ATCTGTTCACTGTCCCGGGG -3'
(R):5'- AGTGTCCTCCATGATGCAGC -3'

Posted On

2016-09-06