Mutagenetix > Incidental Mutation

Incidental Mutation 'R2197:Adam11'

238442

Institutional Source

Beutler Lab

Gene Symbol

Adam11

Ensembl Gene

ENSMUSG00000020926

Gene Name

a disintegrin and metallopeptidase domain 11

Synonyms

Mdc

MMRRC Submission

040199-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2197 (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 102660750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 94 (I94F)

Ref Sequence

ENSEMBL: ENSMUSP00000099370 (fasta)

Gene Model

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

AlphaFold

Q9R1V4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068150
AA Change: I94F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069466
Gene: ENSMUSG00000020926
AA Change: I94F

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

possibly damaging
Transcript: ENSMUST00000103081
AA Change: I94F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099370
Gene: ENSMUSG00000020926
AA Change: I94F

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: ENSMUST00000141563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143269

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd50	A	T	3: 38,509,741 (GRCm39)	D875E	probably damaging	Het
Arf3	T	C	15: 98,639,285 (GRCm39)	N60S	probably benign	Het
Atxn2	T	G	5: 121,944,280 (GRCm39)		probably null	Het
B3gnt8	A	T	7: 25,328,373 (GRCm39)	I268F	probably benign	Het
Bmp1	T	A	14: 70,723,712 (GRCm39)	D708V	possibly damaging	Het
C1s2	A	G	6: 124,609,069 (GRCm39)	S163P	probably damaging	Het
C3	A	G	17: 57,526,623 (GRCm39)	I786T	probably benign	Het
Cacna2d2	T	A	9: 107,404,602 (GRCm39)	L1138Q	probably damaging	Het
Cage1	T	A	13: 38,207,029 (GRCm39)	Y272F	probably damaging	Het
Cd300ld	A	T	11: 114,875,058 (GRCm39)	M192K	possibly damaging	Het
Cdc5l	A	T	17: 45,718,745 (GRCm39)	F624I	probably benign	Het
Cdh8	T	A	8: 99,922,897 (GRCm39)	Q333L	probably damaging	Het
Ciapin1	T	A	8: 95,555,787 (GRCm39)	K128*	probably null	Het
Col6a3	T	A	1: 90,731,467 (GRCm39)	E988D	probably benign	Het
Crip3	A	G	17: 46,740,338 (GRCm39)	E46G	probably damaging	Het
D5Ertd579e	A	G	5: 36,772,137 (GRCm39)	S753P	possibly damaging	Het
Dock6	T	A	9: 21,744,177 (GRCm39)	D126V	probably damaging	Het
Duxf4	T	A	10: 58,072,158 (GRCm39)	I19F	possibly damaging	Het
Dvl3	A	G	16: 20,342,506 (GRCm39)	E153G	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Exoc8	A	G	8: 125,622,477 (GRCm39)	L630P	probably damaging	Het
Fam227a	G	A	15: 79,507,668 (GRCm39)	T454M	probably damaging	Het
Flnc	A	T	6: 29,459,134 (GRCm39)	D2472V	probably damaging	Het
Galnt4	G	A	10: 98,944,509 (GRCm39)	G78E	probably damaging	Het
Ghr	A	T	15: 3,362,956 (GRCm39)	L172*	probably null	Het
Gjb5	A	T	4: 127,250,063 (GRCm39)		probably null	Het
Hdac5	T	C	11: 102,095,340 (GRCm39)	D427G	probably damaging	Het
Hsd17b4	G	A	18: 50,316,369 (GRCm39)		probably null	Het
Kcnab1	T	C	3: 65,017,368 (GRCm39)	I59T	probably benign	Het
Kcnh7	A	G	2: 62,607,950 (GRCm39)	Y544H	probably damaging	Het
Kdm7a	A	G	6: 39,123,870 (GRCm39)	S765P	probably damaging	Het
Lama1	A	T	17: 68,059,936 (GRCm39)	H675L	probably benign	Het
Lemd3	CCCTCCTCCTCCTCCTCCTCC	CCCTCCTCCTCCTCCTCC	10: 120,814,432 (GRCm39)		probably benign	Het
Llgl1	T	C	11: 60,600,865 (GRCm39)	S654P	possibly damaging	Het
Lvrn	G	T	18: 47,011,409 (GRCm39)	M455I	probably benign	Het
Mfsd12	T	A	10: 81,193,568 (GRCm39)	L46Q	probably damaging	Het
Mtcl1	A	T	17: 66,673,427 (GRCm39)	M783K	probably benign	Het
Mthfd1l	A	T	10: 3,978,399 (GRCm39)	T420S	probably damaging	Het
Mybphl	T	A	3: 108,284,635 (GRCm39)	I294N	probably damaging	Het
Or4c52	G	A	2: 89,845,768 (GRCm39)	G165S	probably damaging	Het
Or4f14b	T	C	2: 111,775,658 (GRCm39)	T48A	possibly damaging	Het
Or52ab7	T	A	7: 102,977,831 (GRCm39)	L46*	probably null	Het
Oxa1l	A	T	14: 54,598,924 (GRCm39)	Q70L	probably benign	Het
Pcdhac2	A	T	18: 37,279,185 (GRCm39)	I722F	probably damaging	Het
Pde4d	A	G	13: 110,084,924 (GRCm39)	D460G	probably damaging	Het
Pth1r	CGGG	CGGGGGG	9: 110,556,058 (GRCm39)		probably benign	Het
Rab11fip3	A	G	17: 26,287,152 (GRCm39)	S334P	probably benign	Het
Ror2	C	T	13: 53,439,816 (GRCm39)		probably null	Het
Scnn1g	G	C	7: 121,366,519 (GRCm39)	W572S	probably damaging	Het
Skint5	G	A	4: 113,798,046 (GRCm39)	S179L	probably damaging	Het
Slc22a2	G	T	17: 12,817,949 (GRCm39)	G175V	probably damaging	Het
Spaca6	G	A	17: 18,056,416 (GRCm39)		probably null	Het
Tbc1d30	C	T	10: 121,140,312 (GRCm39)	R207H	probably damaging	Het
Tdrd5	A	G	1: 156,087,435 (GRCm39)	I829T	probably benign	Het
Tmcc3	T	C	10: 94,414,780 (GRCm39)	S161P	probably damaging	Het
Tmem150b	A	G	7: 4,719,353 (GRCm39)	V189A	probably benign	Het
Tmem248	A	G	5: 130,260,597 (GRCm39)	D54G	probably benign	Het
Trmt1	T	A	8: 85,417,487 (GRCm39)	S121T	probably damaging	Het
Tyk2	C	T	9: 21,026,503 (GRCm39)	V698M	probably damaging	Het
Usp17la	A	G	7: 104,509,919 (GRCm39)	R175G	probably damaging	Het
Vav1	A	G	17: 57,610,140 (GRCm39)	N464S	probably benign	Het
Vmn2r57	T	G	7: 41,078,249 (GRCm39)		probably null	Het
Vmn2r78	A	G	7: 86,570,535 (GRCm39)	Y351C	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
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
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'- GGTTGAACAAACAGCTCTCCCTG -3'
(R):5'- TCCACATACTGCGAGGACAG -3'

Sequencing Primer
(F):5'- AACAGCTCTCCCTGGGAAAGG -3'
(R):5'- GTGACTGAAATCGCAAAGTAGC -3'

Posted On

2014-10-02