Mutagenetix > Incidental Mutation

Incidental Mutation 'R8341:Adam11'

644907

Institutional Source

Beutler Lab

Gene Symbol

Adam11

Ensembl Gene

ENSMUSG00000020926

Gene Name

a disintegrin and metallopeptidase domain 11

Synonyms

Mdc

MMRRC Submission

067865-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102652265-102671088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102667362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 641 (H641N)

Ref Sequence

ENSEMBL: ENSMUSP00000069466 (fasta)

Gene Model

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

AlphaFold

Q9R1V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000068150
AA Change: H641N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069466
Gene: ENSMUSG00000020926
AA Change: H641N

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 damaging
Transcript: ENSMUST00000103081
AA Change: H641N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099370
Gene: ENSMUSG00000020926
AA Change: H641N

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: 98.9%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,845,876 (GRCm39)	I915F	probably damaging	Het
Amfr	A	G	8: 94,725,806 (GRCm39)	S192P	probably damaging	Het
Ano9	T	A	7: 140,682,247 (GRCm39)	N676I	possibly damaging	Het
Arfgef1	C	T	1: 10,224,553 (GRCm39)	V1428I	probably benign	Het
B3gnt9	C	T	8: 105,980,497 (GRCm39)	R297H	probably benign	Het
Bace2	C	T	16: 97,158,108 (GRCm39)	A36V	possibly damaging	Het
C1s1	C	T	6: 124,508,115 (GRCm39)	A625T	probably damaging	Het
Camkmt	T	C	17: 85,747,008 (GRCm39)	L251P	probably damaging	Het
Ceacam15	C	A	7: 16,405,928 (GRCm39)	V208F	probably benign	Het
Clp1	T	C	2: 84,554,117 (GRCm39)	K351E	probably damaging	Het
Csmd3	T	C	15: 47,561,547 (GRCm39)	Y1343C		Het
Cubn	C	A	2: 13,433,535 (GRCm39)	G1125V	probably damaging	Het
Dpp4	C	T	2: 62,178,234 (GRCm39)	V633I	probably benign	Het
Eif2ak1	A	T	5: 143,821,755 (GRCm39)	D357V	probably benign	Het
Fez1	T	C	9: 36,787,605 (GRCm39)	M370T	possibly damaging	Het
Frk	G	A	10: 34,462,279 (GRCm39)	E257K	probably damaging	Het
Gm7579	T	A	7: 141,765,856 (GRCm39)	C87*	probably null	Het
Henmt1	T	C	3: 108,865,908 (GRCm39)	V211A	probably damaging	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Ints9	T	A	14: 65,273,863 (GRCm39)	V556E	probably benign	Het
Itprid2	A	T	2: 79,488,062 (GRCm39)	K715I	probably damaging	Het
Klhl41	T	C	2: 69,500,868 (GRCm39)	S110P	probably benign	Het
Klrk1	T	C	6: 129,599,663 (GRCm39)		probably benign	Het
Kmt2e	A	T	5: 23,704,451 (GRCm39)	S1215C	probably damaging	Het
Lyn	T	C	4: 3,743,304 (GRCm39)		probably null	Het
Map2k5	T	A	9: 63,246,380 (GRCm39)	N116Y	probably damaging	Het
Map3k13	G	T	16: 21,740,334 (GRCm39)	E554*	probably null	Het
Map6	A	G	7: 98,917,647 (GRCm39)	E140G	possibly damaging	Het
Mpv17	A	C	5: 31,311,447 (GRCm39)		probably null	Het
Myo1c	C	T	11: 75,562,253 (GRCm39)	P883S	probably benign	Het
Myo7b	T	C	18: 32,116,979 (GRCm39)	M914V	probably benign	Het
Olfm2	C	T	9: 20,583,918 (GRCm39)		probably null	Het
Or2b4	G	A	17: 38,116,543 (GRCm39)	C169Y	probably damaging	Het
Osbpl7	T	G	11: 96,950,989 (GRCm39)	L612R	probably damaging	Het
Polq	A	T	16: 36,892,133 (GRCm39)	M2012L	possibly damaging	Het
Ppp1r7	G	A	1: 93,274,000 (GRCm39)	D59N	probably benign	Het
Ppp4r3c2	A	T	X: 88,798,322 (GRCm39)	K718M	probably damaging	Het
Ptbp1	A	C	10: 79,699,045 (GRCm39)	E534D	probably benign	Het
Qser1	A	G	2: 104,619,820 (GRCm39)	Y241H	probably damaging	Het
Rbx1	T	C	15: 81,358,078 (GRCm39)	L88P	probably damaging	Het
Rft1	T	C	14: 30,411,838 (GRCm39)	L462P	probably damaging	Het
Serpinb9f	T	A	13: 33,511,290 (GRCm39)	L77*	probably null	Het
Shisa9	T	C	16: 11,815,015 (GRCm39)	M221T	possibly damaging	Het
Slc12a2	T	G	18: 58,012,281 (GRCm39)	F135V	possibly damaging	Het
Slc23a1	C	T	18: 35,755,588 (GRCm39)	G436E	probably damaging	Het
Slc44a2	T	C	9: 21,253,495 (GRCm39)	F88L	probably benign	Het
Snx21	A	G	2: 164,633,805 (GRCm39)	E197G	probably damaging	Het
Srarp	T	C	4: 141,160,707 (GRCm39)	D42G	possibly damaging	Het
St6galnac1	T	A	11: 116,659,714 (GRCm39)	M200L	probably benign	Het
Stambpl1	A	T	19: 34,211,401 (GRCm39)	Q154L	probably benign	Het
Szt2	G	T	4: 118,250,033 (GRCm39)	R492S	possibly damaging	Het
Thbs3	G	A	3: 89,132,698 (GRCm39)	R880Q	probably benign	Het
Tnks	A	T	8: 35,340,199 (GRCm39)	L473H	probably damaging	Het
Ttc4	A	G	4: 106,522,893 (GRCm39)	S342P	probably benign	Het
Uckl1	T	A	2: 181,211,512 (GRCm39)	M463L	probably benign	Het
Unc80	T	C	1: 66,688,192 (GRCm39)	S2397P	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,128 (GRCm39)	H728L	probably benign	Het
Vsig10l	T	C	7: 43,113,378 (GRCm39)	V110A	probably damaging	Het
Zgrf1	T	A	3: 127,354,564 (GRCm39)	L61*	probably null	Het
Zswim5	A	G	4: 116,843,989 (GRCm39)	Y1009C	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
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
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'- CGTCAACATCTCTGGAGCTC -3'
(R):5'- CATGGATAAGCAAGGCCACATC -3'

Sequencing Primer
(F):5'- ATCTCTGGAGCTCCGCGG -3'
(R):5'- AAGGCCACATCTCCGTGTGAG -3'

Posted On

2020-09-02