Incidental Mutation 'R1068:Adam11'
| ID |
86099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam11
|
| Ensembl Gene |
ENSMUSG00000020926 |
| Gene Name |
a disintegrin and metallopeptidase domain 11 |
| Synonyms |
Mdc |
| MMRRC Submission |
039154-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1068 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102652265-102671088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 102667204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 619
(L619R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068150]
[ENSMUST00000103081]
|
| AlphaFold |
Q9R1V4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068150
AA Change: L619R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069466
Gene: ENSMUSG00000020926
AA Change: L619R
| 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: L619R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099370
Gene: ENSMUSG00000020926
AA Change: L619R
| 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
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
T |
18: 69,083,139 (GRCm39) |
V25E |
unknown |
Het |
| Acsm4 |
C |
A |
7: 119,307,933 (GRCm39) |
Q357K |
probably benign |
Het |
| Ccne2 |
A |
G |
4: 11,192,850 (GRCm39) |
N17S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,829,830 (GRCm39) |
H313R |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,543,361 (GRCm39) |
H833L |
probably damaging |
Het |
| Csnk1a1 |
G |
T |
18: 61,702,634 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
T |
C |
19: 39,801,025 (GRCm39) |
K77E |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,186,109 (GRCm39) |
E159G |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,881,330 (GRCm39) |
V3181I |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,526,801 (GRCm39) |
D99G |
possibly damaging |
Het |
| Garem1 |
T |
C |
18: 21,301,812 (GRCm39) |
E125G |
probably benign |
Het |
| Kcnf1 |
A |
G |
12: 17,225,475 (GRCm39) |
Y249H |
probably damaging |
Het |
| Kit |
C |
T |
5: 75,770,178 (GRCm39) |
H197Y |
probably benign |
Het |
| Memo1 |
T |
A |
17: 74,532,550 (GRCm39) |
I153F |
probably damaging |
Het |
| Myh7 |
T |
A |
14: 55,224,776 (GRCm39) |
N597I |
possibly damaging |
Het |
| Nop2 |
A |
G |
6: 125,109,242 (GRCm39) |
K23E |
probably damaging |
Het |
| Nxf1 |
T |
A |
19: 8,740,118 (GRCm39) |
V95E |
probably damaging |
Het |
| Pamr1 |
T |
A |
2: 102,472,590 (GRCm39) |
C630S |
probably damaging |
Het |
| Ptprh |
G |
T |
7: 4,552,462 (GRCm39) |
P934Q |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,837,095 (GRCm39) |
|
probably null |
Het |
| Ralyl |
T |
A |
3: 13,841,949 (GRCm39) |
N28K |
probably damaging |
Het |
| Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
| Rpp30 |
T |
A |
19: 36,061,138 (GRCm39) |
M1K |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Snx19 |
G |
A |
9: 30,340,314 (GRCm39) |
R484Q |
probably damaging |
Het |
| Speer4a1 |
A |
T |
5: 26,241,024 (GRCm39) |
L156Q |
probably null |
Het |
| St18 |
A |
G |
1: 6,865,786 (GRCm39) |
D88G |
probably benign |
Het |
| Syt7 |
T |
C |
19: 10,421,375 (GRCm39) |
Y520H |
probably benign |
Het |
| Taf7l2 |
C |
T |
10: 115,949,359 (GRCm39) |
V56I |
probably damaging |
Het |
| Tle4 |
C |
G |
19: 14,429,543 (GRCm39) |
W674C |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,587,124 (GRCm39) |
Y132N |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vps11 |
A |
T |
9: 44,264,316 (GRCm39) |
L719Q |
probably damaging |
Het |
| Zc3h4 |
T |
G |
7: 16,163,161 (GRCm39) |
H520Q |
unknown |
Het |
| Zdbf2 |
C |
T |
1: 63,342,589 (GRCm39) |
R323C |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,973,767 (GRCm39) |
*99K |
probably null |
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 |
|
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 |
|
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'- GCAGTAAGCAGTAAGTAGCATCCCC -3'
(R):5'- ATAAGCAAGGCCACATCTCCGTG -3'
Sequencing Primer
(F):5'- CAGGGTCAGGGAATCTCCAG -3'
(R):5'- ATGATGGGAGCAGATCCTTCG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation