Incidental Mutation 'R2013:Adamts6'
| ID |
222427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts6
|
| Ensembl Gene |
ENSMUSG00000046169 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 6 |
| Synonyms |
b2b2029Clo, b2b2182Clo, b2b2187.1Clo, b2b1879.1Clo, A930019D11Rik, ADAM-TS6, b2b2228Clo |
| MMRRC Submission |
040022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.831)
|
| Stock # |
R2013 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104424343-104633203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104450812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 332
(I332F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065766]
[ENSMUST00000223562]
[ENSMUST00000224208]
[ENSMUST00000224303]
[ENSMUST00000224504]
[ENSMUST00000224742]
[ENSMUST00000224784]
|
| AlphaFold |
D3Z1A5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065766
AA Change: I332F
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: I332F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
43 |
191 |
4.2e-40 |
PFAM |
|
Pfam:Reprolysin_5
|
248 |
443 |
3.8e-17 |
PFAM |
|
Pfam:Reprolysin_4
|
248 |
464 |
4.9e-12 |
PFAM |
|
Pfam:Reprolysin
|
250 |
468 |
1.6e-27 |
PFAM |
|
Pfam:Reprolysin_2
|
268 |
458 |
5.6e-15 |
PFAM |
|
Pfam:Reprolysin_3
|
272 |
414 |
2.6e-14 |
PFAM |
|
TSP1
|
561 |
613 |
3.98e-13 |
SMART |
|
Pfam:ADAM_spacer1
|
717 |
829 |
2.9e-41 |
PFAM |
|
TSP1
|
843 |
900 |
2.49e-5 |
SMART |
|
TSP1
|
902 |
960 |
2.87e-5 |
SMART |
|
TSP1
|
963 |
1018 |
1.36e-1 |
SMART |
|
TSP1
|
1021 |
1069 |
2.36e-6 |
SMART |
|
Pfam:PLAC
|
1083 |
1115 |
3.9e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223562
AA Change: I332F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224208
AA Change: I332F
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224504
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224742
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224784
AA Change: I332F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for induced mutations exhibit cardiovascular defects including double outlet right ventricle, ventricular septal defects and biventricular hypertrophy, and hydrops, thymus hypoplasia short snout and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
G |
17: 48,347,723 (GRCm39) |
T194P |
possibly damaging |
Het |
| 4921504E06Rik |
T |
A |
2: 19,545,124 (GRCm39) |
M110L |
probably benign |
Het |
| Acad9 |
T |
G |
3: 36,127,737 (GRCm39) |
I113R |
probably damaging |
Het |
| Adam34l |
T |
C |
8: 44,079,442 (GRCm39) |
S261G |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,639,727 (GRCm39) |
G678S |
probably benign |
Het |
| Afg3l2 |
C |
T |
18: 67,564,842 (GRCm39) |
V211I |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,991,937 (GRCm39) |
I4407T |
probably damaging |
Het |
| Alpl |
G |
T |
4: 137,482,458 (GRCm39) |
H79N |
probably benign |
Het |
| Apc |
A |
G |
18: 34,448,644 (GRCm39) |
I1813V |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,525,908 (GRCm39) |
M540T |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,152,147 (GRCm39) |
E600G |
probably damaging |
Het |
| Btbd8 |
T |
C |
5: 107,658,655 (GRCm39) |
W1742R |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,522,337 (GRCm38) |
D609V |
probably damaging |
Het |
| Ccdc69 |
C |
T |
11: 54,941,983 (GRCm39) |
M174I |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,913,748 (GRCm39) |
L877* |
probably null |
Het |
| Cdk14 |
T |
C |
5: 5,143,047 (GRCm39) |
Y228C |
probably damaging |
Het |
| Dip2c |
C |
T |
13: 9,617,882 (GRCm39) |
Q426* |
probably null |
Het |
| Dsp |
A |
G |
13: 38,375,434 (GRCm39) |
N1073S |
probably damaging |
Het |
| Epyc |
T |
C |
10: 97,511,655 (GRCm39) |
I216T |
probably damaging |
Het |
| Erbin |
A |
G |
13: 103,994,041 (GRCm39) |
S300P |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,381,482 (GRCm39) |
T433A |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,243,026 (GRCm39) |
T80A |
probably damaging |
Het |
| Foxm1 |
T |
A |
6: 128,352,465 (GRCm39) |
|
probably null |
Het |
| Gaa |
A |
G |
11: 119,175,409 (GRCm39) |
|
probably null |
Het |
| H2-Q4 |
A |
G |
17: 35,599,526 (GRCm39) |
E203G |
probably damaging |
Het |
| Helt |
T |
C |
8: 46,745,355 (GRCm39) |
D214G |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,063,599 (GRCm39) |
V487A |
probably benign |
Het |
| Hmmr |
A |
T |
11: 40,619,259 (GRCm39) |
S74T |
possibly damaging |
Het |
| Hspa9 |
A |
T |
18: 35,079,701 (GRCm39) |
Y243N |
probably damaging |
Het |
| Htt |
T |
G |
5: 35,010,215 (GRCm39) |
L1556R |
probably damaging |
Het |
| Ift80 |
T |
C |
3: 68,898,117 (GRCm39) |
K73E |
possibly damaging |
Het |
| Il6st |
G |
A |
13: 112,635,423 (GRCm39) |
A551T |
probably null |
Het |
| Kdm5a |
T |
C |
6: 120,408,951 (GRCm39) |
S1545P |
probably benign |
Het |
| Lef1 |
T |
A |
3: 130,905,236 (GRCm39) |
I39N |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,457,337 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,577,807 (GRCm39) |
D59G |
probably damaging |
Het |
| Maged1 |
T |
C |
X: 93,580,523 (GRCm39) |
Y636C |
possibly damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,453,584 (GRCm39) |
D1195V |
probably damaging |
Het |
| Mob3b |
A |
G |
4: 35,083,922 (GRCm39) |
V89A |
probably benign |
Het |
| Mogs |
C |
T |
6: 83,094,631 (GRCm39) |
R483* |
probably null |
Het |
| Mybphl |
A |
C |
3: 108,282,718 (GRCm39) |
T203P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,385,057 (GRCm39) |
T1720A |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,552,796 (GRCm39) |
F945I |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,463,139 (GRCm39) |
L1309F |
probably benign |
Het |
| Nes |
A |
G |
3: 87,883,985 (GRCm39) |
Q748R |
possibly damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,387,340 (GRCm39) |
R205W |
probably damaging |
Het |
| Nlrc3 |
A |
C |
16: 3,782,974 (GRCm39) |
L161R |
probably damaging |
Het |
| Npy2r |
T |
A |
3: 82,448,487 (GRCm39) |
D96V |
probably damaging |
Het |
| Or4d11 |
T |
A |
19: 12,013,518 (GRCm39) |
E196V |
probably damaging |
Het |
| Or5w18 |
T |
G |
2: 87,632,847 (GRCm39) |
V38G |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,662,498 (GRCm39) |
C1159Y |
probably damaging |
Het |
| Phf21a |
T |
C |
2: 92,058,828 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
T |
A |
7: 115,950,166 (GRCm39) |
|
probably null |
Het |
| Psg22 |
A |
T |
7: 18,453,560 (GRCm39) |
Y85F |
possibly damaging |
Het |
| Pttg1ip2 |
T |
A |
5: 5,505,964 (GRCm39) |
I106L |
probably benign |
Het |
| Qtrt2 |
A |
G |
16: 43,689,455 (GRCm39) |
I181T |
probably damaging |
Het |
| Sash1 |
A |
T |
10: 8,605,177 (GRCm39) |
V1071D |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,442,802 (GRCm39) |
I1481N |
probably damaging |
Het |
| Slc15a1 |
G |
A |
14: 121,713,399 (GRCm39) |
A376V |
possibly damaging |
Het |
| Slc25a46 |
A |
T |
18: 31,742,778 (GRCm39) |
H29Q |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,459,832 (GRCm39) |
C1354R |
probably damaging |
Het |
| Ssu2 |
C |
T |
6: 112,360,902 (GRCm39) |
E52K |
possibly damaging |
Het |
| Taar7e |
A |
T |
10: 23,913,732 (GRCm39) |
H74L |
possibly damaging |
Het |
| Tcte1 |
A |
T |
17: 45,852,237 (GRCm39) |
N490I |
probably benign |
Het |
| Tent4b |
T |
A |
8: 88,972,223 (GRCm39) |
|
probably null |
Het |
| Tpst2 |
G |
T |
5: 112,455,880 (GRCm39) |
G140C |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,803,981 (GRCm39) |
F1634I |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,761,600 (GRCm39) |
F1017L |
probably damaging |
Het |
| Utp18 |
A |
G |
11: 93,766,948 (GRCm39) |
V253A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,897,006 (GRCm39) |
T118A |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,369,109 (GRCm39) |
T155A |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,954 (GRCm39) |
M332K |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,269,845 (GRCm39) |
M452K |
probably benign |
Het |
| Vmn2r79 |
T |
G |
7: 86,653,289 (GRCm39) |
L518R |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,607,288 (GRCm39) |
S1074P |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,835,078 (GRCm39) |
S2757P |
probably damaging |
Het |
| Wdr33 |
C |
A |
18: 32,022,029 (GRCm39) |
Q860K |
unknown |
Het |
| Zfp423 |
T |
A |
8: 88,509,025 (GRCm39) |
I440F |
probably benign |
Het |
| Zup1 |
A |
G |
10: 33,805,820 (GRCm39) |
V437A |
possibly damaging |
Het |
|
| Other mutations in Adamts6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Adamts6
|
APN |
13 |
104,566,298 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL00583:Adamts6
|
APN |
13 |
104,433,726 (GRCm39) |
nonsense |
probably null |
|
|
IGL01305:Adamts6
|
APN |
13 |
104,526,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01448:Adamts6
|
APN |
13 |
104,433,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01517:Adamts6
|
APN |
13 |
104,526,700 (GRCm39) |
splice site |
probably benign |
|
|
IGL01678:Adamts6
|
APN |
13 |
104,450,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01737:Adamts6
|
APN |
13 |
104,526,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02152:Adamts6
|
APN |
13 |
104,450,168 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02217:Adamts6
|
APN |
13 |
104,598,873 (GRCm39) |
splice site |
probably benign |
|
|
IGL02828:Adamts6
|
APN |
13 |
104,433,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03067:Adamts6
|
APN |
13 |
104,433,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03081:Adamts6
|
APN |
13 |
104,581,464 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03159:Adamts6
|
APN |
13 |
104,580,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03411:Adamts6
|
APN |
13 |
104,450,842 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
De_vito
|
UTSW |
13 |
104,483,900 (GRCm39) |
critical splice donor site |
probably null |
|
|
festinator
|
UTSW |
13 |
104,616,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU22:Adamts6
|
UTSW |
13 |
104,526,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0007:Adamts6
|
UTSW |
13 |
104,433,999 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0362:Adamts6
|
UTSW |
13 |
104,526,584 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0504:Adamts6
|
UTSW |
13 |
104,563,438 (GRCm39) |
splice site |
probably benign |
|
|
R0549:Adamts6
|
UTSW |
13 |
104,433,763 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0566:Adamts6
|
UTSW |
13 |
104,581,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0703:Adamts6
|
UTSW |
13 |
104,489,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0799:Adamts6
|
UTSW |
13 |
104,450,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0838:Adamts6
|
UTSW |
13 |
104,550,297 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1500:Adamts6
|
UTSW |
13 |
104,449,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Adamts6
|
UTSW |
13 |
104,630,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Adamts6
|
UTSW |
13 |
104,581,383 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1619:Adamts6
|
UTSW |
13 |
104,449,285 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1727:Adamts6
|
UTSW |
13 |
104,565,472 (GRCm39) |
splice site |
probably benign |
|
|
R1967:Adamts6
|
UTSW |
13 |
104,563,459 (GRCm39) |
nonsense |
probably null |
|
|
R2079:Adamts6
|
UTSW |
13 |
104,598,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2432:Adamts6
|
UTSW |
13 |
104,563,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3118:Adamts6
|
UTSW |
13 |
104,450,787 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4125:Adamts6
|
UTSW |
13 |
104,449,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Adamts6
|
UTSW |
13 |
104,450,787 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4795:Adamts6
|
UTSW |
13 |
104,580,636 (GRCm39) |
nonsense |
probably null |
|
|
R4841:Adamts6
|
UTSW |
13 |
104,449,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4976:Adamts6
|
UTSW |
13 |
104,433,998 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5085:Adamts6
|
UTSW |
13 |
104,443,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5234:Adamts6
|
UTSW |
13 |
104,630,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Adamts6
|
UTSW |
13 |
104,489,323 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5753:Adamts6
|
UTSW |
13 |
104,483,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6027:Adamts6
|
UTSW |
13 |
104,616,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Adamts6
|
UTSW |
13 |
104,433,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Adamts6
|
UTSW |
13 |
104,483,900 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6243:Adamts6
|
UTSW |
13 |
104,450,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6257:Adamts6
|
UTSW |
13 |
104,598,790 (GRCm39) |
missense |
probably benign |
|
|
R6743:Adamts6
|
UTSW |
13 |
104,565,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6775:Adamts6
|
UTSW |
13 |
104,450,160 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7113:Adamts6
|
UTSW |
13 |
104,449,267 (GRCm39) |
missense |
probably benign |
|
|
R7351:Adamts6
|
UTSW |
13 |
104,526,620 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7520:Adamts6
|
UTSW |
13 |
104,433,694 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7866:Adamts6
|
UTSW |
13 |
104,550,257 (GRCm39) |
nonsense |
probably null |
|
|
R8274:Adamts6
|
UTSW |
13 |
104,450,181 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8348:Adamts6
|
UTSW |
13 |
104,616,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8448:Adamts6
|
UTSW |
13 |
104,616,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8686:Adamts6
|
UTSW |
13 |
104,450,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8691:Adamts6
|
UTSW |
13 |
104,450,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8962:Adamts6
|
UTSW |
13 |
104,433,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8978:Adamts6
|
UTSW |
13 |
104,512,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Adamts6
|
UTSW |
13 |
104,598,793 (GRCm39) |
missense |
probably benign |
|
|
R9080:Adamts6
|
UTSW |
13 |
104,449,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9152:Adamts6
|
UTSW |
13 |
104,613,275 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9213:Adamts6
|
UTSW |
13 |
104,581,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9536:Adamts6
|
UTSW |
13 |
104,489,313 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9674:Adamts6
|
UTSW |
13 |
104,563,448 (GRCm39) |
missense |
probably benign |
0.17 |
|
X0065:Adamts6
|
UTSW |
13 |
104,630,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACACTAGGTCAGATGTTCTGGAG -3'
(R):5'- TCCTATCCCTTATTACCTGAAAGAG -3'
Sequencing Primer
(F):5'- ATCGGCAAGAGATTCTTCCTAG -3'
(R):5'- CCTGAAAGAGGTGTAGAGAAAACC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation