Incidental Mutation 'R1302:Adamts4'
| ID |
158400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts4
|
| Ensembl Gene |
ENSMUSG00000006403 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 4 |
| Synonyms |
aggrecanase-1, ADAM-TS4 |
| MMRRC Submission |
039368-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1302 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
171077990-171088206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 171080752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 360
(G360R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111314]
[ENSMUST00000111315]
[ENSMUST00000191871]
[ENSMUST00000194778]
[ENSMUST00000219033]
|
| AlphaFold |
Q8BNJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006570
AA Change: G360R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006570
Gene: ENSMUSG00000006403
AA Change: G360R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
59 |
189 |
4e-12 |
PFAM |
|
Pfam:Reprolysin_5
|
224 |
411 |
4.4e-12 |
PFAM |
|
Pfam:Reprolysin
|
226 |
436 |
6.6e-17 |
PFAM |
|
Pfam:Reprolysin_4
|
231 |
432 |
3.5e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
247 |
380 |
3.5e-11 |
PFAM |
|
Pfam:Reprolysin_2
|
247 |
426 |
1.8e-9 |
PFAM |
|
Blast:ACR
|
437 |
516 |
4e-24 |
BLAST |
|
TSP1
|
531 |
583 |
3.52e-14 |
SMART |
|
Pfam:ADAM_spacer1
|
694 |
811 |
9.4e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111314
AA Change: G163R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106946
Gene: ENSMUSG00000006403
AA Change: G163R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
27 |
214 |
1.8e-12 |
PFAM |
|
Pfam:Reprolysin
|
29 |
239 |
1e-19 |
PFAM |
|
Pfam:Reprolysin_4
|
33 |
235 |
1.2e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
50 |
183 |
5.4e-12 |
PFAM |
|
Pfam:Reprolysin_2
|
50 |
229 |
1.9e-9 |
PFAM |
|
Blast:ACR
|
240 |
319 |
4e-24 |
BLAST |
|
TSP1
|
334 |
386 |
3.52e-14 |
SMART |
|
Pfam:ADAM_spacer1
|
497 |
614 |
5.2e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111315
AA Change: G348R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: G348R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
49 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
54 |
177 |
5.6e-17 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
399 |
6.5e-12 |
PFAM |
|
Pfam:Reprolysin
|
214 |
424 |
4.6e-19 |
PFAM |
|
Pfam:Reprolysin_4
|
219 |
420 |
4.6e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
235 |
368 |
1.9e-11 |
PFAM |
|
Pfam:Reprolysin_2
|
236 |
414 |
7.2e-9 |
PFAM |
|
Blast:ACR
|
425 |
504 |
4e-24 |
BLAST |
|
TSP1
|
519 |
571 |
3.52e-14 |
SMART |
|
Pfam:ADAM_spacer1
|
682 |
799 |
1.8e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191871
|
| SMART Domains |
Protein: ENSMUSP00000141942
Gene: ENSMUSG00000013593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_49kDa
|
114 |
146 |
5.3e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194778
|
| SMART Domains |
Protein: ENSMUSP00000141370
Gene: ENSMUSG00000013593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_49kDa
|
166 |
231 |
3.4e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219033
AA Change: G360R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active zinc-dependent aggrecanase enzyme that degrades cartilage. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutant mice do not exhibit any morphological abnormalities. However, they do display impaired coordination and an increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
A |
T |
8: 125,566,607 (GRCm39) |
I271N |
probably damaging |
Het |
| 5031439G07Rik |
A |
G |
15: 84,837,477 (GRCm39) |
Y279H |
probably damaging |
Het |
| Abcg2 |
T |
A |
6: 58,662,802 (GRCm39) |
M548K |
probably damaging |
Het |
| Acat1 |
T |
C |
9: 53,500,525 (GRCm39) |
D257G |
possibly damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,322,328 (GRCm39) |
D238G |
probably damaging |
Het |
| Ankrd1 |
C |
T |
19: 36,092,403 (GRCm39) |
G275S |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,480,890 (GRCm39) |
M1K |
probably null |
Het |
| Atf7ip2 |
T |
C |
16: 10,058,472 (GRCm39) |
S304P |
possibly damaging |
Het |
| Casp4 |
T |
A |
9: 5,328,518 (GRCm39) |
C333* |
probably null |
Het |
| Ccdc68 |
G |
A |
18: 70,072,033 (GRCm39) |
V37M |
probably damaging |
Het |
| Cda |
T |
A |
4: 138,078,502 (GRCm39) |
I87F |
probably damaging |
Het |
| Chst1 |
A |
T |
2: 92,443,864 (GRCm39) |
D112V |
probably damaging |
Het |
| Chtf18 |
T |
C |
17: 25,938,132 (GRCm39) |
D967G |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,895,248 (GRCm39) |
R1106G |
probably damaging |
Het |
| Coro1b |
T |
G |
19: 4,199,376 (GRCm39) |
F12V |
probably damaging |
Het |
| Ctif |
G |
T |
18: 75,654,749 (GRCm39) |
P259Q |
probably benign |
Het |
| Duox1 |
A |
T |
2: 122,177,760 (GRCm39) |
I1515F |
probably benign |
Het |
| Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,501,050 (GRCm39) |
Y1328H |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,562,959 (GRCm39) |
D516G |
probably benign |
Het |
| Gin1 |
A |
T |
1: 97,703,314 (GRCm39) |
K46* |
probably null |
Het |
| Gle1 |
C |
G |
2: 29,842,564 (GRCm39) |
|
probably null |
Het |
| Gm11146 |
T |
G |
16: 77,398,970 (GRCm39) |
I5L |
unknown |
Het |
| Gpr153 |
C |
T |
4: 152,364,400 (GRCm39) |
T152M |
probably damaging |
Het |
| H1f8 |
A |
T |
6: 115,924,610 (GRCm39) |
R39* |
probably null |
Het |
| Hdlbp |
A |
T |
1: 93,351,107 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
A |
T |
1: 173,562,861 (GRCm39) |
L95Q |
possibly damaging |
Het |
| Ikzf3 |
G |
T |
11: 98,407,746 (GRCm39) |
P32T |
probably benign |
Het |
| Ints10 |
T |
A |
8: 69,279,964 (GRCm39) |
V697E |
probably damaging |
Het |
| Krt14 |
A |
G |
11: 100,094,173 (GRCm39) |
S474P |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,203,667 (GRCm39) |
I388F |
unknown |
Het |
| Ldha |
A |
C |
7: 46,497,063 (GRCm39) |
Q7P |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,161,267 (GRCm39) |
S232P |
probably benign |
Het |
| Med1 |
G |
T |
11: 98,048,275 (GRCm39) |
D840E |
possibly damaging |
Het |
| Med23 |
T |
A |
10: 24,764,320 (GRCm39) |
|
probably null |
Het |
| Naip5 |
G |
A |
13: 100,358,099 (GRCm39) |
P1046S |
possibly damaging |
Het |
| Ndufa4l2 |
A |
T |
10: 127,351,301 (GRCm39) |
M31L |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,371 (GRCm39) |
S425P |
possibly damaging |
Het |
| Nova1 |
A |
T |
12: 46,767,581 (GRCm39) |
H113Q |
unknown |
Het |
| Npc1 |
T |
C |
18: 12,328,142 (GRCm39) |
K1056E |
probably benign |
Het |
| Nrbp1 |
A |
G |
5: 31,407,233 (GRCm39) |
H354R |
probably benign |
Het |
| Ogfod3 |
A |
G |
11: 121,074,300 (GRCm39) |
F250L |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,731,647 (GRCm39) |
D3383G |
unknown |
Het |
| Pde1b |
T |
A |
15: 103,436,026 (GRCm39) |
D457E |
probably benign |
Het |
| Pkd1 |
C |
G |
17: 24,787,210 (GRCm39) |
S581R |
probably benign |
Het |
| Pno1 |
T |
A |
11: 17,154,545 (GRCm39) |
Q212L |
probably benign |
Het |
| Polr3b |
C |
T |
10: 84,468,350 (GRCm39) |
P112L |
probably damaging |
Het |
| Pomk |
T |
A |
8: 26,473,102 (GRCm39) |
I284F |
probably damaging |
Het |
| Rapgef4 |
A |
T |
2: 71,875,504 (GRCm39) |
D119V |
probably benign |
Het |
| Rprm |
A |
T |
2: 53,975,165 (GRCm39) |
L51Q |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,815,421 (GRCm39) |
D870E |
probably benign |
Het |
| Taok3 |
A |
C |
5: 117,337,108 (GRCm39) |
S58R |
possibly damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,730,963 (GRCm39) |
S830T |
probably benign |
Het |
| Tnfrsf1a |
G |
A |
6: 125,333,879 (GRCm39) |
C44Y |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,041,723 (GRCm39) |
D235E |
possibly damaging |
Het |
| Vapb |
C |
A |
2: 173,613,330 (GRCm39) |
F76L |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,465 (GRCm39) |
I700V |
probably damaging |
Het |
| Wwc1 |
G |
A |
11: 35,734,984 (GRCm39) |
R964W |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,782,765 (GRCm39) |
V1203D |
probably damaging |
Het |
|
| Other mutations in Adamts4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Adamts4
|
APN |
1 |
171,080,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02496:Adamts4
|
APN |
1 |
171,078,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02510:Adamts4
|
APN |
1 |
171,078,959 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02695:Adamts4
|
APN |
1 |
171,080,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02952:Adamts4
|
APN |
1 |
171,078,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Adamts4
|
APN |
1 |
171,078,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03304:Adamts4
|
APN |
1 |
171,080,438 (GRCm39) |
splice site |
probably benign |
|
|
PIT4305001:Adamts4
|
UTSW |
1 |
171,086,610 (GRCm39) |
missense |
probably benign |
|
|
R0331:Adamts4
|
UTSW |
1 |
171,078,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1460:Adamts4
|
UTSW |
1 |
171,084,009 (GRCm39) |
splice site |
probably benign |
|
|
R1502:Adamts4
|
UTSW |
1 |
171,086,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Adamts4
|
UTSW |
1 |
171,080,311 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1815:Adamts4
|
UTSW |
1 |
171,083,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1982:Adamts4
|
UTSW |
1 |
171,086,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1986:Adamts4
|
UTSW |
1 |
171,084,244 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2281:Adamts4
|
UTSW |
1 |
171,083,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4261:Adamts4
|
UTSW |
1 |
171,086,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4750:Adamts4
|
UTSW |
1 |
171,078,635 (GRCm39) |
missense |
probably benign |
|
|
R4868:Adamts4
|
UTSW |
1 |
171,080,000 (GRCm39) |
intron |
probably benign |
|
|
R4924:Adamts4
|
UTSW |
1 |
171,086,643 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5418:Adamts4
|
UTSW |
1 |
171,080,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Adamts4
|
UTSW |
1 |
171,080,178 (GRCm39) |
missense |
probably benign |
|
|
R5566:Adamts4
|
UTSW |
1 |
171,078,419 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
|
R5781:Adamts4
|
UTSW |
1 |
171,078,584 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6043:Adamts4
|
UTSW |
1 |
171,080,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Adamts4
|
UTSW |
1 |
171,080,284 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6187:Adamts4
|
UTSW |
1 |
171,078,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6614:Adamts4
|
UTSW |
1 |
171,084,193 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6976:Adamts4
|
UTSW |
1 |
171,079,877 (GRCm39) |
intron |
probably benign |
|
|
R7291:Adamts4
|
UTSW |
1 |
171,084,097 (GRCm39) |
missense |
probably benign |
|
|
R7363:Adamts4
|
UTSW |
1 |
171,086,608 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7490:Adamts4
|
UTSW |
1 |
171,084,169 (GRCm39) |
nonsense |
probably null |
|
|
R7797:Adamts4
|
UTSW |
1 |
171,085,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Adamts4
|
UTSW |
1 |
171,080,292 (GRCm39) |
missense |
|
|
|
R8408:Adamts4
|
UTSW |
1 |
171,080,314 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8684:Adamts4
|
UTSW |
1 |
171,086,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Adamts4
|
UTSW |
1 |
171,084,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Adamts4
|
UTSW |
1 |
171,081,530 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9760:Adamts4
|
UTSW |
1 |
171,086,334 (GRCm39) |
missense |
probably benign |
|
|
X0062:Adamts4
|
UTSW |
1 |
171,084,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Adamts4
|
UTSW |
1 |
171,086,353 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1176:Adamts4
|
UTSW |
1 |
171,086,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGAAGATGCCCCTGGAGTTAC -3'
(R):5'- TATGCTTGTCTGCACCCAGAGCAC -3'
Sequencing Primer
(F):5'- TGGAGTTACACACGAGCCTG -3'
(R):5'- AGCACAGAGGGCTTCTGAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation