Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Adam11'

399384

Institutional Source

Beutler Lab

Gene Symbol

Adam11

Ensembl Gene

ENSMUSG00000020926

Gene Name

a disintegrin and metallopeptidase domain 11

Synonyms

Mdc

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102761439-102780262 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 102774272 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 413 (Y413*)

Ref Sequence

ENSEMBL: ENSMUSP00000099370 (fasta)

Gene Model

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

AlphaFold

Q9R1V4

Predicted Effect

probably null
Transcript: ENSMUST00000068150
AA Change: Y413*

SMART Domains

Protein: ENSMUSP00000069466
Gene: ENSMUSG00000020926
AA Change: Y413*

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
AA Change: Y413*

SMART Domains

Protein: ENSMUSP00000099370
Gene: ENSMUSG00000020926
AA Change: Y413*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

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
Abhd8	G	T	8: 71,458,398 (GRCm38)	C296*	probably null	Het
Ankhd1	A	G	18: 36,656,715 (GRCm38)	I907V	probably benign	Het
Arrdc5	A	G	17: 56,297,897 (GRCm38)	I130T	probably benign	Het
Asic5	T	A	3: 82,020,987 (GRCm38)	I419K	probably damaging	Het
Atp4a	A	T	7: 30,715,530 (GRCm38)	E248V	probably damaging	Het
Avil	C	A	10: 127,011,761 (GRCm38)	V154L	probably benign	Het
Bclaf1	T	A	10: 20,323,536 (GRCm38)	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,746,416 (GRCm38)		probably benign	Het
Cd200r4	A	C	16: 44,832,090 (GRCm38)	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,552,202 (GRCm38)	M1K	probably null	Het
Cfap46	T	A	7: 139,678,514 (GRCm38)	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,062,606 (GRCm38)	F533L	probably benign	Het
Chil4	T	A	3: 106,219,452 (GRCm38)	I5F	probably benign	Het
Ctu2	A	T	8: 122,476,588 (GRCm38)	R48W	probably damaging	Het
Daam1	A	T	12: 71,946,576 (GRCm38)	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415 (GRCm38)	Y328N	possibly damaging	Het
Dst	A	T	1: 34,177,931 (GRCm38)	K1151*	probably null	Het
Ect2	T	C	3: 27,130,070 (GRCm38)	D503G	probably damaging	Het
Epm2a	C	A	10: 11,457,345 (GRCm38)	D307E	probably benign	Het
Exph5	A	T	9: 53,337,930 (GRCm38)	D73V	probably damaging	Het
Fam20b	C	T	1: 156,705,740 (GRCm38)	G102D	probably damaging	Het
Fat2	T	C	11: 55,281,175 (GRCm38)	N2904S	probably damaging	Het
Flt3	T	A	5: 147,375,690 (GRCm38)	Q147L	possibly damaging	Het
Fndc11	A	G	2: 181,222,163 (GRCm38)	T254A	possibly damaging	Het
Galnt15	C	T	14: 32,058,287 (GRCm38)	R514*	probably null	Het
Gbgt1	A	G	2: 28,505,208 (GRCm38)	D286G	probably damaging	Het
Ggt1	T	A	10: 75,579,198 (GRCm38)		probably null	Het
Gm26526	A	T	7: 39,589,234 (GRCm38)		noncoding transcript	Het
H2-K1	T	C	17: 33,997,462 (GRCm38)	T237A	probably damaging	Het
Igf1r	T	A	7: 68,207,319 (GRCm38)	S1010T	probably damaging	Het
Il21	T	C	3: 37,227,735 (GRCm38)	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,569,175 (GRCm38)	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,314,594 (GRCm38)	P2173S	probably benign	Het
Krt1	A	T	15: 101,846,368 (GRCm38)	S512T	unknown	Het
Krtap16-1	G	A	11: 99,985,598 (GRCm38)	R327*	probably null	Het
Lama1	T	A	17: 67,756,716 (GRCm38)	I745N	probably benign	Het
Lrrk1	T	A	7: 66,307,107 (GRCm38)	N372I	probably benign	Het
Lyst	A	T	13: 13,683,070 (GRCm38)	E2481D	probably benign	Het
Map2k1	A	T	9: 64,187,745 (GRCm38)		probably benign	Het
Mbip	A	G	12: 56,337,443 (GRCm38)	V215A	probably damaging	Het
Mdc1	T	A	17: 35,847,922 (GRCm38)	V398D	probably benign	Het
Mog	T	G	17: 37,012,372 (GRCm38)	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 47,309,436 (GRCm38)		noncoding transcript	Het
Muc5b	C	T	7: 141,864,540 (GRCm38)	S3741L	probably benign	Het
Myo5a	A	T	9: 75,130,120 (GRCm38)	I202F	probably damaging	Het
Myo5b	A	T	18: 74,700,606 (GRCm38)	I818F	possibly damaging	Het
Nfia	T	A	4: 98,014,297 (GRCm38)	M262K	probably damaging	Het
Nisch	C	T	14: 31,206,567 (GRCm38)		probably null	Het
Nkd1	A	G	8: 88,589,194 (GRCm38)	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,893,560 (GRCm38)	K284*	probably null	Het
Olfr1052	A	T	2: 86,297,921 (GRCm38)	Y35F	probably damaging	Het
Olfr1058	A	T	2: 86,386,140 (GRCm38)	S93T	possibly damaging	Het
Olfr262	A	G	19: 12,241,248 (GRCm38)	S138P	probably damaging	Het
Olfr305	A	T	7: 86,364,190 (GRCm38)	V49E	possibly damaging	Het
Olfr619	T	G	7: 103,603,789 (GRCm38)	I45R	probably benign	Het
Olfr723	A	T	14: 49,928,779 (GRCm38)	I255N	probably damaging	Het
Olfr725	C	A	14: 50,034,678 (GRCm38)	A242S	possibly damaging	Het
Olfr972	A	T	9: 39,873,445 (GRCm38)	T57S	possibly damaging	Het
Pcdhb17	A	T	18: 37,486,825 (GRCm38)	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,726,620 (GRCm38)	D243V	probably benign	Het
Polq	A	T	16: 37,089,319 (GRCm38)	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,344,393 (GRCm38)	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,182,738 (GRCm38)	Y506*	probably null	Het
Sp110	G	C	1: 85,577,202 (GRCm38)		probably benign	Het
Tarbp1	G	A	8: 126,467,156 (GRCm38)	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,627,547 (GRCm38)	F13V	probably benign	Het
Tgfb2	A	G	1: 186,704,483 (GRCm38)	Y98H	probably damaging	Het
Tmprss11a	C	A	5: 86,411,806 (GRCm38)	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,538,033 (GRCm38)	K158N	probably benign	Het
Tnip2	G	T	5: 34,503,578 (GRCm38)	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075 (GRCm38)		probably null	Het
Ttc28	C	T	5: 111,271,238 (GRCm38)	P1398S	probably benign	Het
Umodl1	T	G	17: 30,980,359 (GRCm38)	I308S	possibly damaging	Het
Vcan	A	T	13: 89,691,600 (GRCm38)	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,063,077 (GRCm38)	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,825,318 (GRCm38)	C542S	probably damaging	Het
Wiz	T	A	17: 32,378,496 (GRCm38)		probably benign	Het
Wrap73	A	G	4: 154,155,346 (GRCm38)	Y343C	probably benign	Het

Other mutations in Adam11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Adam11	APN	11	102,776,831 (GRCm38)	missense	probably benign	0.40
IGL00497:Adam11	APN	11	102,770,147 (GRCm38)	missense	probably damaging	1.00
IGL00570:Adam11	APN	11	102,776,350 (GRCm38)	missense	possibly damaging	0.76
IGL01875:Adam11	APN	11	102,772,856 (GRCm38)	missense	probably damaging	1.00
IGL01945:Adam11	APN	11	102,772,910 (GRCm38)	missense	probably damaging	0.99
IGL02266:Adam11	APN	11	102,772,667 (GRCm38)	missense	probably damaging	1.00
IGL02702:Adam11	APN	11	102,777,038 (GRCm38)	missense	probably benign	0.26
IGL03395:Adam11	APN	11	102,772,920 (GRCm38)	missense	probably damaging	1.00
G1citation:Adam11	UTSW	11	102,776,675 (GRCm38)	missense	possibly damaging	0.68
R0091:Adam11	UTSW	11	102,772,839 (GRCm38)	missense	probably damaging	1.00
R0135:Adam11	UTSW	11	102,776,573 (GRCm38)	missense	probably damaging	1.00
R1068:Adam11	UTSW	11	102,776,378 (GRCm38)	missense	probably damaging	1.00
R1529:Adam11	UTSW	11	102,775,113 (GRCm38)	critical splice donor site	probably null
R2197:Adam11	UTSW	11	102,769,924 (GRCm38)	missense	possibly damaging	0.94
R2357:Adam11	UTSW	11	102,774,508 (GRCm38)	missense	probably benign
R3082:Adam11	UTSW	11	102,770,117 (GRCm38)	splice site	probably benign
R3784:Adam11	UTSW	11	102,774,367 (GRCm38)	critical splice donor site	probably null
R5367:Adam11	UTSW	11	102,773,653 (GRCm38)	missense	probably benign	0.00
R5444:Adam11	UTSW	11	102,772,848 (GRCm38)	missense	probably damaging	1.00
R5699:Adam11	UTSW	11	102,773,640 (GRCm38)	missense	probably benign	0.00
R5881:Adam11	UTSW	11	102,773,810 (GRCm38)	missense	probably benign	0.17
R6193:Adam11	UTSW	11	102,771,261 (GRCm38)	missense	probably benign
R6422:Adam11	UTSW	11	102,774,283 (GRCm38)	missense	possibly damaging	0.95
R6798:Adam11	UTSW	11	102,777,008 (GRCm38)	missense	probably damaging	1.00
R6822:Adam11	UTSW	11	102,776,675 (GRCm38)	missense	possibly damaging	0.68
R7173:Adam11	UTSW	11	102,771,931 (GRCm38)	missense	possibly damaging	0.93
R7207:Adam11	UTSW	11	102,772,057 (GRCm38)	missense	probably benign	0.03
R7719:Adam11	UTSW	11	102,772,477 (GRCm38)	missense	probably benign	0.01
R8341:Adam11	UTSW	11	102,776,536 (GRCm38)	missense	probably damaging	1.00
R8951:Adam11	UTSW	11	102,774,367 (GRCm38)	critical splice donor site	probably null
R9309:Adam11	UTSW	11	102,772,884 (GRCm38)	missense	probably damaging	1.00
R9457:Adam11	UTSW	11	102,769,898 (GRCm38)	missense	probably benign	0.22
R9747:Adam11	UTSW	11	102,772,669 (GRCm38)	missense	probably damaging	1.00
R9786:Adam11	UTSW	11	102,762,264 (GRCm38)	missense	probably benign	0.00
X0023:Adam11	UTSW	11	102,774,630 (GRCm38)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTTGTCCCGAGGTTCAGGAG -3'
(R):5'- CGAGGGCATCCAATCGTTTC -3'

Sequencing Primer
(F):5'- TCCCGAGGTTCAGGAGAAAGAAC -3'
(R):5'- GAAGCCGTTTCCGCACTC -3'

Posted On

2016-07-06