Incidental Mutation 'R0488:Adam19'
| ID |
42419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam19
|
| Ensembl Gene |
ENSMUSG00000011256 |
| Gene Name |
ADAM metallopeptidase domain 19 |
| Synonyms |
Mltnb |
| MMRRC Submission |
038687-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0488 (G1)
|
| Quality Score |
171 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
45946819-46038170 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 46029757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 734
(L734R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011400]
|
| AlphaFold |
O35674 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000011400
AA Change: L734R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: L734R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
32 |
163 |
9.4e-27 |
PFAM |
|
Pfam:Reprolysin_5
|
209 |
388 |
1.9e-25 |
PFAM |
|
Pfam:Reprolysin_4
|
209 |
399 |
1.5e-15 |
PFAM |
|
Pfam:Reprolysin
|
211 |
409 |
1.3e-68 |
PFAM |
|
Pfam:Reprolysin_2
|
231 |
399 |
6.1e-19 |
PFAM |
|
Pfam:Reprolysin_3
|
235 |
357 |
1.2e-19 |
PFAM |
|
DISIN
|
426 |
501 |
9.7e-41 |
SMART |
|
ACR
|
502 |
650 |
7.46e-62 |
SMART |
|
transmembrane domain
|
704 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
797 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
846 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
905 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156446
|
| Meta Mutation Damage Score |
0.3429 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: This gene encodes a cell surface glycoprotein and member of the ADAM (a disintegrin and metalloproteinase) family of endopeptidases. The encoded protein may play a role in the ectodomain shedding of neuregulin proteins. Homozygous knockout mice for this gene exhibit heart development defects and perinatal lethality. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that undergoes proteolytic processing to generate a mature protein product. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice exhibit cardiac developmental defects and die perinatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
C |
17: 43,621,302 (GRCm39) |
I513T |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,552,541 (GRCm39) |
V654A |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,548,611 (GRCm39) |
Y1249* |
probably null |
Het |
| Ankar |
T |
A |
1: 72,697,891 (GRCm39) |
Q996H |
probably damaging |
Het |
| Aqp12 |
T |
C |
1: 92,936,378 (GRCm39) |
Y235H |
probably damaging |
Het |
| Arsb |
T |
C |
13: 94,077,013 (GRCm39) |
V460A |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,467,444 (GRCm39) |
|
probably null |
Het |
| Cd44 |
T |
C |
2: 102,664,564 (GRCm39) |
|
probably benign |
Het |
| Clec4b1 |
T |
A |
6: 123,048,441 (GRCm39) |
I192N |
probably damaging |
Het |
| Cplane2 |
A |
G |
4: 140,941,712 (GRCm39) |
D14G |
probably benign |
Het |
| Cps1 |
A |
C |
1: 67,187,967 (GRCm39) |
|
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,454,135 (GRCm39) |
L215S |
probably damaging |
Het |
| E2f4 |
G |
A |
8: 106,025,171 (GRCm39) |
V84I |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,558,043 (GRCm39) |
T197A |
probably damaging |
Het |
| Eno2 |
T |
A |
6: 124,740,837 (GRCm39) |
M121L |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 101,841,207 (GRCm39) |
V757A |
probably damaging |
Het |
| Etv5 |
T |
A |
16: 22,231,695 (GRCm39) |
I106F |
probably damaging |
Het |
| Foxj3 |
T |
A |
4: 119,477,187 (GRCm39) |
Y298* |
probably null |
Het |
| Gm12185 |
A |
G |
11: 48,798,666 (GRCm39) |
L609S |
probably damaging |
Het |
| Gm5884 |
T |
C |
6: 128,623,031 (GRCm39) |
|
noncoding transcript |
Het |
| Havcr1 |
A |
G |
11: 46,643,398 (GRCm39) |
Y106C |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,076,506 (GRCm39) |
N2110S |
probably damaging |
Het |
| Kif2b |
T |
C |
11: 91,467,798 (GRCm39) |
K162E |
probably benign |
Het |
| Micu2 |
T |
C |
14: 58,169,699 (GRCm39) |
Y217C |
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,488,030 (GRCm39) |
G32C |
probably damaging |
Het |
| Mnat1 |
T |
A |
12: 73,217,413 (GRCm39) |
N96K |
probably damaging |
Het |
| Mpp2 |
G |
T |
11: 101,952,427 (GRCm39) |
R349S |
possibly damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,402,544 (GRCm39) |
I59F |
probably benign |
Het |
| Mybl2 |
T |
C |
2: 162,914,534 (GRCm39) |
|
probably benign |
Het |
| Otogl |
T |
C |
10: 107,639,466 (GRCm39) |
E1382G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,719,313 (GRCm39) |
E1150G |
unknown |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Pla2g4a |
G |
A |
1: 149,747,196 (GRCm39) |
T322M |
probably damaging |
Het |
| Pramel11 |
A |
T |
4: 143,621,973 (GRCm39) |
Y461N |
probably benign |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,220,653 (GRCm38) |
D455V |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,395,745 (GRCm39) |
T1162A |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,911,723 (GRCm39) |
N55D |
possibly damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,279,600 (GRCm39) |
E543G |
probably damaging |
Het |
| Rimklb |
G |
A |
6: 122,437,934 (GRCm39) |
T103I |
probably benign |
Het |
| Samd4b |
T |
C |
7: 28,113,662 (GRCm39) |
Y101C |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
T |
A |
7: 55,479,086 (GRCm39) |
S979T |
probably damaging |
Het |
| Vmn2r93 |
G |
A |
17: 18,546,311 (GRCm39) |
E728K |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,146,087 (GRCm39) |
|
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,067,591 (GRCm39) |
Y1457C |
probably damaging |
Het |
| Wsb1 |
T |
C |
11: 79,135,326 (GRCm39) |
D225G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,345,165 (GRCm39) |
S2469P |
possibly damaging |
Het |
| Zeb1 |
T |
A |
18: 5,772,455 (GRCm39) |
C915S |
probably damaging |
Het |
| Znfx1 |
C |
A |
2: 166,884,483 (GRCm39) |
R923L |
possibly damaging |
Het |
|
| Other mutations in Adam19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:Adam19
|
APN |
11 |
46,003,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01727:Adam19
|
APN |
11 |
46,012,380 (GRCm39) |
missense |
probably benign |
|
|
IGL01758:Adam19
|
APN |
11 |
46,003,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02160:Adam19
|
APN |
11 |
46,030,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02421:Adam19
|
APN |
11 |
46,028,380 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02572:Adam19
|
APN |
11 |
46,022,548 (GRCm39) |
nonsense |
probably null |
|
|
IGL02995:Adam19
|
APN |
11 |
46,027,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03171:Adam19
|
APN |
11 |
46,029,681 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03237:Adam19
|
APN |
11 |
46,028,383 (GRCm39) |
missense |
probably benign |
|
|
R0003:Adam19
|
UTSW |
11 |
46,019,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Adam19
|
UTSW |
11 |
46,027,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Adam19
|
UTSW |
11 |
46,033,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Adam19
|
UTSW |
11 |
46,018,219 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0501:Adam19
|
UTSW |
11 |
46,013,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Adam19
|
UTSW |
11 |
46,012,238 (GRCm39) |
splice site |
probably benign |
|
|
R0734:Adam19
|
UTSW |
11 |
46,018,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0747:Adam19
|
UTSW |
11 |
46,009,322 (GRCm39) |
splice site |
probably null |
|
|
R0771:Adam19
|
UTSW |
11 |
46,012,280 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1052:Adam19
|
UTSW |
11 |
46,018,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1573:Adam19
|
UTSW |
11 |
46,004,445 (GRCm39) |
splice site |
probably benign |
|
|
R1735:Adam19
|
UTSW |
11 |
46,029,744 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1830:Adam19
|
UTSW |
11 |
46,018,105 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1911:Adam19
|
UTSW |
11 |
46,012,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2092:Adam19
|
UTSW |
11 |
45,951,731 (GRCm39) |
splice site |
probably null |
|
|
R3749:Adam19
|
UTSW |
11 |
46,028,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3893:Adam19
|
UTSW |
11 |
46,019,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3916:Adam19
|
UTSW |
11 |
45,951,762 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3917:Adam19
|
UTSW |
11 |
45,951,762 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4506:Adam19
|
UTSW |
11 |
46,009,271 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4767:Adam19
|
UTSW |
11 |
46,029,804 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5055:Adam19
|
UTSW |
11 |
46,013,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5313:Adam19
|
UTSW |
11 |
46,022,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5329:Adam19
|
UTSW |
11 |
46,015,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5567:Adam19
|
UTSW |
11 |
46,027,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5602:Adam19
|
UTSW |
11 |
46,027,142 (GRCm39) |
missense |
probably benign |
|
|
R6198:Adam19
|
UTSW |
11 |
46,012,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Adam19
|
UTSW |
11 |
46,003,702 (GRCm39) |
missense |
probably benign |
|
|
R7011:Adam19
|
UTSW |
11 |
46,033,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7163:Adam19
|
UTSW |
11 |
46,022,544 (GRCm39) |
missense |
probably benign |
|
|
R7213:Adam19
|
UTSW |
11 |
46,012,298 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7267:Adam19
|
UTSW |
11 |
46,012,403 (GRCm39) |
nonsense |
probably null |
|
|
R7896:Adam19
|
UTSW |
11 |
46,028,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8012:Adam19
|
UTSW |
11 |
45,955,873 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8059:Adam19
|
UTSW |
11 |
46,027,293 (GRCm39) |
splice site |
probably benign |
|
|
R8243:Adam19
|
UTSW |
11 |
46,015,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8357:Adam19
|
UTSW |
11 |
46,030,939 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8419:Adam19
|
UTSW |
11 |
46,015,850 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8457:Adam19
|
UTSW |
11 |
46,030,939 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9163:Adam19
|
UTSW |
11 |
46,018,176 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9349:Adam19
|
UTSW |
11 |
46,022,570 (GRCm39) |
nonsense |
probably null |
|
|
R9489:Adam19
|
UTSW |
11 |
46,028,449 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9579:Adam19
|
UTSW |
11 |
46,009,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9641:Adam19
|
UTSW |
11 |
46,027,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Adam19
|
UTSW |
11 |
45,946,942 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGCGGGAATCAAATACCTGGAG -3'
(R):5'- CCCCACTGGCATGGATAACAGAAG -3'
Sequencing Primer
(F):5'- GCGGAACAAAGGCTCTGTC -3'
(R):5'- aggctcagtagaaatcacttacag -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation