Mutagenetix > Incidental Mutation

Incidental Mutation 'R8951:Adam11'

681660

Institutional Source

Beutler Lab

Gene Symbol

Adam11

Ensembl Gene

ENSMUSG00000020926

Gene Name

a disintegrin and metallopeptidase domain 11

Synonyms

Mdc

MMRRC Submission

068788-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8951 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102652265-102671088 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 102665193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099370 (fasta)

Gene Model

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

AlphaFold

Q9R1V4

Predicted Effect

probably null
Transcript: ENSMUST00000068150

SMART Domains

Protein: ENSMUSP00000069466
Gene: ENSMUSG00000020926

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 null
Transcript: ENSMUST00000103081

SMART Domains

Protein: ENSMUSP00000099370
Gene: ENSMUSG00000020926

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

0.9505

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	A	T	15: 98,502,140 (GRCm39)	V158E	possibly damaging	Het
Adgrg3	T	C	8: 95,761,362 (GRCm39)		probably benign	Het
Arsb	T	C	13: 93,944,124 (GRCm39)	S272P	probably damaging	Het
Asb10	A	C	5: 24,742,952 (GRCm39)	C260W	probably damaging	Het
Atp13a1	A	G	8: 70,246,484 (GRCm39)	D158G	probably benign	Het
Bcl6	T	C	16: 23,793,704 (GRCm39)	E81G	probably damaging	Het
C7	A	T	15: 5,032,231 (GRCm39)	V660E	probably benign	Het
Cacna1c	T	C	6: 118,590,300 (GRCm39)	D1401G	probably damaging	Het
Ccp110	A	G	7: 118,321,015 (GRCm39)	I223M	possibly damaging	Het
Cilp	A	G	9: 65,180,220 (GRCm39)	E187G	probably benign	Het
Cmc2	T	C	8: 117,637,904 (GRCm39)	N15S	probably damaging	Het
Cnnm3	T	A	1: 36,558,019 (GRCm39)		probably benign	Het
Col27a1	T	G	4: 63,191,311 (GRCm39)	M828R	possibly damaging	Het
Cpm	C	T	10: 117,511,938 (GRCm39)	P294L	probably damaging	Het
Cpt1a	G	C	19: 3,412,211 (GRCm39)	A228P	probably benign	Het
Ctbp1	A	G	5: 33,416,679 (GRCm39)	V43A	probably damaging	Het
Cylc2	A	T	4: 51,229,469 (GRCm39)	E270D	unknown	Het
Cyp46a1	A	C	12: 108,312,348 (GRCm39)	R119S	possibly damaging	Het
Dctn3	A	T	4: 41,719,845 (GRCm39)	I87N	probably damaging	Het
Dhdds	C	T	4: 133,719,857 (GRCm39)	V25I	possibly damaging	Het
Entpd1	A	C	19: 40,727,319 (GRCm39)	N489T	probably damaging	Het
Fam110a	T	C	2: 151,812,461 (GRCm39)	D103G	probably damaging	Het
Foxo6	T	A	4: 120,125,133 (GRCm39)	Q554L	unknown	Het
Gbp5	T	A	3: 142,206,481 (GRCm39)	M55K	probably damaging	Het
Gm20730	T	C	6: 43,058,638 (GRCm39)	Y58C	possibly damaging	Het
Grip1	T	A	10: 119,874,509 (GRCm39)	S679T	possibly damaging	Het
Gtdc1	A	C	2: 44,679,030 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igha	T	A	12: 113,222,684 (GRCm39)	N246Y		Het
Ighg2b	T	A	12: 113,270,926 (GRCm39)	T104S	probably benign	Het
Ighmbp2	C	T	19: 3,318,726 (GRCm39)	W450*	probably null	Het
Ipo11	T	C	13: 106,978,690 (GRCm39)	E839G	possibly damaging	Het
Iqce	T	C	5: 140,675,578 (GRCm39)	D207G	probably damaging	Het
Irgm2	T	C	11: 58,110,408 (GRCm39)	V45A	possibly damaging	Het
Itga1	C	T	13: 115,107,027 (GRCm39)	W1021*	probably null	Het
Itga3	T	C	11: 94,944,911 (GRCm39)	Y799C	probably damaging	Het
Klf1	T	C	8: 85,629,912 (GRCm39)	S246P	possibly damaging	Het
Kras	A	T	6: 145,166,338 (GRCm39)	M188K	probably benign	Het
Lacc1	C	T	14: 77,272,613 (GRCm39)	C61Y	probably benign	Het
Lect2	T	A	13: 56,690,822 (GRCm39)		probably benign	Het
Leng9	G	A	7: 4,152,782 (GRCm39)		probably benign	Het
Lhx9	A	G	1: 138,769,704 (GRCm39)	C6R	probably damaging	Het
Matn3	T	A	12: 9,002,172 (GRCm39)	I128K	probably damaging	Het
Ndst1	T	C	18: 60,830,196 (GRCm39)	E638G	probably benign	Het
Nell2	A	T	15: 95,139,424 (GRCm39)	C603S	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Oas1h	T	G	5: 121,000,657 (GRCm39)	F89C	probably damaging	Het
Or4d10c	A	T	19: 12,066,056 (GRCm39)	Y33*	probably null	Het
Or52l1	A	G	7: 104,829,638 (GRCm39)	V294A	probably damaging	Het
Or5b101	T	A	19: 13,004,827 (GRCm39)	S289C		Het
Or5d45	C	T	2: 88,153,975 (GRCm39)	G25S	probably damaging	Het
P2ry2	G	A	7: 100,647,228 (GRCm39)	T359I	probably damaging	Het
Pbxip1	T	A	3: 89,352,864 (GRCm39)	V170E	probably benign	Het
Pcdhb20	T	A	18: 37,639,146 (GRCm39)	N557K	probably damaging	Het
Pdilt	A	G	7: 119,099,611 (GRCm39)	V219A	possibly damaging	Het
Plec	G	T	15: 76,067,310 (GRCm39)	S1149*	probably null	Het
Pnkp	C	T	7: 44,507,617 (GRCm39)	T61I	possibly damaging	Het
Polr1f	G	T	12: 33,487,867 (GRCm39)	E261*	probably null	Het
Prss56	T	A	1: 87,115,749 (GRCm39)	V541D	probably damaging	Het
Rab40c	A	G	17: 26,138,407 (GRCm39)	V25A	probably damaging	Het
Rgs8	A	T	1: 153,546,567 (GRCm39)	H22L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Slc1a2	T	C	2: 102,586,353 (GRCm39)	V319A	probably damaging	Het
Sp140l2	G	A	1: 85,224,671 (GRCm39)	S288L	possibly damaging	Het
Spata18	A	T	5: 73,828,572 (GRCm39)	I378F	probably damaging	Het
Speer1i	T	A	5: 11,092,799 (GRCm39)	Y79*	probably null	Het
Stag1	T	C	9: 100,762,854 (GRCm39)	V485A	probably damaging	Het
Tas2r104	T	A	6: 131,662,569 (GRCm39)	I47F	probably damaging	Het
Thumpd1	A	T	7: 119,317,471 (GRCm39)	H143Q	possibly damaging	Het
Tmem231	T	C	8: 112,640,697 (GRCm39)	Q272R	probably damaging	Het
Tnfaip2	A	G	12: 111,412,310 (GRCm39)	D237G	probably benign	Het
Tox3	T	C	8: 91,074,543 (GRCm39)	D12G	probably benign	Het
Vmn1r1	A	G	1: 181,985,309 (GRCm39)	S119P	probably damaging	Het
Xrn1	A	G	9: 95,870,999 (GRCm39)	E608G	probably benign	Het
Zfp395	T	C	14: 65,629,528 (GRCm39)	C281R	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
R8341:Adam11	UTSW	11	102,667,362 (GRCm39)	missense	probably damaging	1.00
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'- GATTGTCGTGCAACCTCAGG -3'
(R):5'- CGTGCGTCAAGGTGCATTTT -3'

Sequencing Primer
(F):5'- AACCTCAGGGCAGTCCTTC -3'
(R):5'- TCGGCTGCACTCCTGAG -3'

Posted On

2021-08-31