Mutagenetix > Incidental Mutation

Incidental Mutation 'R5699:Adam11'

446584

Institutional Source

Beutler Lab

Gene Symbol

Adam11

Ensembl Gene

ENSMUSG00000020926

Gene Name

a disintegrin and metallopeptidase domain 11

Synonyms

Mdc

MMRRC Submission

043327-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102652265-102671088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102664466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 385 (M385L)

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: M385L

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

SMART Domains

Protein: ENSMUSP00000069466
Gene: ENSMUSG00000020926
AA Change: M385L

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: M385L

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

SMART Domains

Protein: ENSMUSP00000099370
Gene: ENSMUSG00000020926
AA Change: M385L

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: ENSMUST00000142912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143269

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,225,320 (GRCm39)		noncoding transcript	Het
4930486L24Rik	A	G	13: 61,001,410 (GRCm39)	F106L	possibly damaging	Het
Adgre1	C	T	17: 57,788,007 (GRCm39)	P925S	probably benign	Het
Adh7	G	A	3: 137,932,087 (GRCm39)	A234T	probably benign	Het
Ano2	A	G	6: 125,849,703 (GRCm39)	E475G	probably damaging	Het
C2cd4c	A	G	10: 79,448,385 (GRCm39)	V254A	probably benign	Het
Car13	A	G	3: 14,715,749 (GRCm39)	Y89C	probably damaging	Het
Cd38	A	G	5: 44,057,728 (GRCm39)	K100R	probably damaging	Het
Cdh11	A	G	8: 103,361,175 (GRCm39)	I721T	probably damaging	Het
Cdh2	G	A	18: 16,779,579 (GRCm39)	Q161*	probably null	Het
Clk1	T	C	1: 58,459,354 (GRCm39)	K135R	probably damaging	Het
Col5a1	G	A	2: 27,887,611 (GRCm39)	G961R	unknown	Het
Cpt1b	T	A	15: 89,308,476 (GRCm39)	I151F	probably benign	Het
Cyp51	A	G	5: 4,151,213 (GRCm39)	F139L	probably damaging	Het
Disp1	TTGA	T	1: 182,870,119 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,029,298 (GRCm39)	I4089T	probably benign	Het
Dnali1	C	T	4: 124,952,843 (GRCm39)	V227M	possibly damaging	Het
Eml4	T	G	17: 83,717,514 (GRCm39)	S29A	probably benign	Het
Eps8l3	C	A	3: 107,786,895 (GRCm39)	P24T	probably benign	Het
Fancc	A	T	13: 63,478,446 (GRCm39)		probably null	Het
Firrm	A	T	1: 163,785,120 (GRCm39)	V753D	probably benign	Het
Grid2	G	A	6: 63,885,975 (GRCm39)	A124T	probably damaging	Het
Ikbke	C	T	1: 131,204,204 (GRCm39)		probably null	Het
Kyat1	G	A	2: 30,076,662 (GRCm39)	A284V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmbrd2	G	T	15: 9,175,269 (GRCm39)	L393F	probably benign	Het
Lrrc26	T	A	2: 25,180,536 (GRCm39)	L179Q	probably damaging	Het
Mlx	A	G	11: 100,979,520 (GRCm39)	D113G	possibly damaging	Het
Myod1	A	G	7: 46,026,407 (GRCm39)	K104R	probably damaging	Het
Nwd1	G	A	8: 73,429,602 (GRCm39)		probably null	Het
Or56b2j	T	G	7: 104,353,200 (GRCm39)	V142G	probably damaging	Het
Or5b118	A	G	19: 13,448,336 (GRCm39)	M1V	probably null	Het
Or6c3	A	C	10: 129,308,746 (GRCm39)	N62H	probably damaging	Het
Pacsin3	A	T	2: 91,093,126 (GRCm39)	Y206F	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,970 (GRCm39)	V255E	probably damaging	Het
Pdp1	T	C	4: 11,960,907 (GRCm39)	D468G	possibly damaging	Het
Pgr	C	T	9: 8,900,600 (GRCm39)		probably benign	Het
Prrt2	T	A	7: 126,617,899 (GRCm39)	Y345F	probably benign	Het
Rbbp8nl	T	C	2: 179,920,461 (GRCm39)	T515A	probably damaging	Het
Rc3h1	G	T	1: 160,757,823 (GRCm39)	R47L	probably damaging	Het
Rfpl4b	T	A	10: 38,697,281 (GRCm39)	I107F	possibly damaging	Het
Rsbn1	T	C	3: 103,869,801 (GRCm39)	F754S	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scn3a	T	C	2: 65,337,608 (GRCm39)	T630A	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slco1a5	C	A	6: 142,194,542 (GRCm39)	C367F	probably damaging	Het
Slit1	A	G	19: 41,613,959 (GRCm39)		probably null	Het
Slit2	G	A	5: 48,378,333 (GRCm39)		probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Stk16	T	A	1: 75,190,248 (GRCm39)	M111K	probably damaging	Het
Tbc1d2	T	C	4: 46,616,298 (GRCm39)	I477V	probably benign	Het
Tll1	T	A	8: 64,570,974 (GRCm39)	E199D	probably damaging	Het
Trhde	A	T	10: 114,424,407 (GRCm39)	D459E	probably benign	Het
Ttn	T	C	2: 76,541,881 (GRCm39)	R25375G	possibly damaging	Het
Tubgcp2	A	T	7: 139,578,701 (GRCm39)	M757K	possibly damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ubqln5	A	G	7: 103,778,632 (GRCm39)	V64A	possibly damaging	Het
Usp47	A	G	7: 111,709,204 (GRCm39)	M1337V	probably benign	Het
Vmn1r201	T	A	13: 22,659,409 (GRCm39)	Y208N	probably damaging	Het
Xkr8	C	T	4: 132,455,368 (GRCm39)	R335H	probably damaging	Het
Zbtb49	A	T	5: 38,373,870 (GRCm39)	C25S	probably damaging	Het
Zeb2	T	A	2: 44,887,800 (GRCm39)	N404I	probably damaging	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
R5367:Adam11	UTSW	11	102,664,479 (GRCm39)	missense	probably benign	0.00
R5444:Adam11	UTSW	11	102,663,674 (GRCm39)	missense	probably damaging	1.00
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'- TACGTGGGAGGCATCTGTTC -3'
(R):5'- TCACCCAGTGTCCTCCATGATG -3'

Sequencing Primer
(F):5'- GGAGGCATCTGTTCACTGTCC -3'
(R):5'- AGTGTCCTCCATGATGCAGCC -3'

Posted On

2016-11-21