Incidental Mutation 'R4063:Adamtsl4'
| ID |
315946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl4
|
| Ensembl Gene |
ENSMUSG00000015850 |
| Gene Name |
ADAMTS-like 4 |
| Synonyms |
Tsrc1 |
| MMRRC Submission |
041619-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4063 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95583511-95595228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95584864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 935
(K935E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015994]
[ENSMUST00000117782]
|
| AlphaFold |
Q80T21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015994
AA Change: K935E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: K935E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
TSP1
|
46 |
96 |
1.07e-4 |
SMART |
|
low complexity region
|
109 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
|
Pfam:ADAM_spacer1
|
449 |
564 |
3.9e-31 |
PFAM |
|
low complexity region
|
607 |
623 |
N/A |
INTRINSIC |
|
TSP1
|
632 |
688 |
6e0 |
SMART |
|
TSP1
|
690 |
748 |
5.64e-4 |
SMART |
|
TSP1
|
750 |
806 |
7.16e-6 |
SMART |
|
TSP1
|
808 |
871 |
1.95e-2 |
SMART |
|
TSP1
|
875 |
933 |
7.86e-3 |
SMART |
|
TSP1
|
935 |
988 |
3.34e-6 |
SMART |
|
Pfam:PLAC
|
995 |
1025 |
4.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117782
AA Change: K935E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: K935E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
TSP1
|
46 |
96 |
1.07e-4 |
SMART |
|
low complexity region
|
109 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
|
Pfam:ADAM_spacer1
|
449 |
564 |
3e-31 |
PFAM |
|
low complexity region
|
607 |
623 |
N/A |
INTRINSIC |
|
TSP1
|
632 |
688 |
6e0 |
SMART |
|
TSP1
|
690 |
748 |
5.64e-4 |
SMART |
|
TSP1
|
750 |
806 |
7.16e-6 |
SMART |
|
TSP1
|
808 |
871 |
1.95e-2 |
SMART |
|
TSP1
|
875 |
933 |
7.86e-3 |
SMART |
|
TSP1
|
935 |
988 |
3.34e-6 |
SMART |
|
Pfam:PLAC
|
994 |
1026 |
3e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151054
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (59/61) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the ADAMTS superfamily of secreted proteins, which contain a metalloprotease domain at the N-terminus and a C-terminal ancillary domain. ADAMTS-like proteins lack protease activity and resemble the ancillary domain of ADAMTS proteins. ADAMTS-like proteins have been implicated in regulation of the extracellular matrix. The encoded protein contains 7 thrombospondin type 1 repeats, a conserved extracellular domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
A |
T |
6: 146,854,606 (GRCm39) |
F145L |
probably benign |
Het |
| Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
| Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,130,575 (GRCm39) |
D421G |
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,011,444 (GRCm39) |
M88L |
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,157,588 (GRCm39) |
*413W |
probably null |
Het |
| B4galt7 |
C |
A |
13: 55,756,152 (GRCm39) |
|
probably null |
Het |
| Bltp3b |
A |
G |
10: 89,651,917 (GRCm39) |
N247S |
probably benign |
Het |
| C8g |
A |
T |
2: 25,389,425 (GRCm39) |
S147T |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,426,792 (GRCm39) |
Y510N |
possibly damaging |
Het |
| Cnot2 |
A |
G |
10: 116,373,301 (GRCm39) |
V34A |
possibly damaging |
Het |
| Cyb5d2 |
A |
T |
11: 72,686,606 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,421,144 (GRCm39) |
I3827T |
probably damaging |
Het |
| Dnah7a |
G |
T |
1: 53,464,376 (GRCm39) |
Q3672K |
probably benign |
Het |
| Dock1 |
A |
T |
7: 134,717,021 (GRCm39) |
Y1219F |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
| Gm10719 |
G |
T |
9: 3,019,043 (GRCm39) |
W96L |
probably damaging |
Het |
| H2-M2 |
G |
A |
17: 37,792,399 (GRCm39) |
H291Y |
probably damaging |
Het |
| Hmgcl |
T |
C |
4: 135,686,035 (GRCm39) |
Y167H |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,502,400 (GRCm39) |
D73V |
possibly damaging |
Het |
| Incenp |
A |
T |
19: 9,861,142 (GRCm39) |
M480K |
unknown |
Het |
| Irag1 |
G |
T |
7: 110,522,984 (GRCm39) |
A359D |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,117,114 (GRCm39) |
T266A |
probably benign |
Het |
| Lipf |
A |
G |
19: 33,942,965 (GRCm39) |
N91S |
probably benign |
Het |
| M1ap |
A |
T |
6: 82,980,756 (GRCm39) |
N214I |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,057,005 (GRCm39) |
C826R |
probably damaging |
Het |
| Msx1 |
C |
A |
5: 37,981,365 (GRCm39) |
A105S |
probably benign |
Het |
| Or5ac23 |
A |
C |
16: 59,149,243 (GRCm39) |
S210A |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Ppp1r13l |
A |
T |
7: 19,103,978 (GRCm39) |
H153L |
probably benign |
Het |
| Pramel21 |
A |
G |
4: 143,342,559 (GRCm39) |
D222G |
possibly damaging |
Het |
| Pramel29 |
T |
C |
4: 143,935,265 (GRCm39) |
K161E |
possibly damaging |
Het |
| Proz |
A |
G |
8: 13,114,621 (GRCm39) |
Y85C |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,687,480 (GRCm39) |
D141G |
probably benign |
Het |
| Rad54l2 |
T |
A |
9: 106,597,613 (GRCm39) |
Q131L |
probably benign |
Het |
| Sdha |
A |
G |
13: 74,472,077 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
T |
A |
5: 12,635,091 (GRCm39) |
I719N |
probably benign |
Het |
| Slc18b1 |
A |
T |
10: 23,681,879 (GRCm39) |
I148L |
probably benign |
Het |
| Tacc2 |
G |
T |
7: 130,330,852 (GRCm39) |
D2086Y |
probably damaging |
Het |
| Tchh |
T |
C |
3: 93,354,298 (GRCm39) |
L1246P |
unknown |
Het |
| Tmprss11d |
T |
C |
5: 86,457,177 (GRCm39) |
I161V |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,725,172 (GRCm39) |
D268G |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,289,727 (GRCm39) |
R895H |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,945,079 (GRCm39) |
I366T |
possibly damaging |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,725 (GRCm39) |
I100V |
probably benign |
Het |
| Upp1 |
C |
A |
11: 9,081,709 (GRCm39) |
P82Q |
probably damaging |
Het |
| Vim |
A |
G |
2: 13,584,827 (GRCm39) |
|
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,058 (GRCm39) |
N168K |
possibly damaging |
Het |
| Zdhhc14 |
G |
T |
17: 5,802,983 (GRCm39) |
C362F |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
| Zswim5 |
G |
A |
4: 116,735,177 (GRCm39) |
G174D |
unknown |
Het |
|
| Other mutations in Adamtsl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01475:Adamtsl4
|
APN |
3 |
95,584,843 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01685:Adamtsl4
|
APN |
3 |
95,591,905 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01707:Adamtsl4
|
APN |
3 |
95,591,301 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02105:Adamtsl4
|
APN |
3 |
95,587,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02545:Adamtsl4
|
APN |
3 |
95,590,684 (GRCm39) |
nonsense |
probably null |
|
|
IGL03089:Adamtsl4
|
APN |
3 |
95,584,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0099:Adamtsl4
|
UTSW |
3 |
95,591,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0718:Adamtsl4
|
UTSW |
3 |
95,586,918 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0962:Adamtsl4
|
UTSW |
3 |
95,591,798 (GRCm39) |
nonsense |
probably null |
|
|
R1157:Adamtsl4
|
UTSW |
3 |
95,590,971 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1434:Adamtsl4
|
UTSW |
3 |
95,588,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1486:Adamtsl4
|
UTSW |
3 |
95,589,166 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1579:Adamtsl4
|
UTSW |
3 |
95,592,807 (GRCm39) |
start gained |
probably benign |
|
|
R1703:Adamtsl4
|
UTSW |
3 |
95,584,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Adamtsl4
|
UTSW |
3 |
95,585,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2018:Adamtsl4
|
UTSW |
3 |
95,588,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Adamtsl4
|
UTSW |
3 |
95,588,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3889:Adamtsl4
|
UTSW |
3 |
95,588,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Adamtsl4
|
UTSW |
3 |
95,584,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4124:Adamtsl4
|
UTSW |
3 |
95,588,982 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4128:Adamtsl4
|
UTSW |
3 |
95,588,982 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4432:Adamtsl4
|
UTSW |
3 |
95,589,069 (GRCm39) |
splice site |
probably null |
|
|
R4433:Adamtsl4
|
UTSW |
3 |
95,589,069 (GRCm39) |
splice site |
probably null |
|
|
R4643:Adamtsl4
|
UTSW |
3 |
95,591,929 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4694:Adamtsl4
|
UTSW |
3 |
95,587,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Adamtsl4
|
UTSW |
3 |
95,586,896 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4929:Adamtsl4
|
UTSW |
3 |
95,585,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5044:Adamtsl4
|
UTSW |
3 |
95,588,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5212:Adamtsl4
|
UTSW |
3 |
95,584,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Adamtsl4
|
UTSW |
3 |
95,588,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5268:Adamtsl4
|
UTSW |
3 |
95,587,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5473:Adamtsl4
|
UTSW |
3 |
95,587,303 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5509:Adamtsl4
|
UTSW |
3 |
95,588,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5566:Adamtsl4
|
UTSW |
3 |
95,592,765 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5891:Adamtsl4
|
UTSW |
3 |
95,589,623 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5906:Adamtsl4
|
UTSW |
3 |
95,588,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Adamtsl4
|
UTSW |
3 |
95,589,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6530:Adamtsl4
|
UTSW |
3 |
95,588,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6861:Adamtsl4
|
UTSW |
3 |
95,588,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Adamtsl4
|
UTSW |
3 |
95,588,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8083:Adamtsl4
|
UTSW |
3 |
95,591,711 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8251:Adamtsl4
|
UTSW |
3 |
95,591,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Adamtsl4
|
UTSW |
3 |
95,592,276 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8723:Adamtsl4
|
UTSW |
3 |
95,584,426 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8724:Adamtsl4
|
UTSW |
3 |
95,584,426 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8725:Adamtsl4
|
UTSW |
3 |
95,584,426 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8786:Adamtsl4
|
UTSW |
3 |
95,592,784 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R9218:Adamtsl4
|
UTSW |
3 |
95,588,404 (GRCm39) |
nonsense |
probably null |
|
|
R9257:Adamtsl4
|
UTSW |
3 |
95,588,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Adamtsl4
|
UTSW |
3 |
95,589,090 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9749:Adamtsl4
|
UTSW |
3 |
95,591,457 (GRCm39) |
missense |
probably benign |
|
|
X0028:Adamtsl4
|
UTSW |
3 |
95,584,274 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACGTTCTCAGGGCTGCTC -3'
(R):5'- GCCCCACATTTTAAACTTAAGAGTG -3'
Sequencing Primer
(F):5'- CTGTGGTAGAACATTCTCCAGGAAC -3'
(R):5'- AGAGTGATCTCTCTTCCCCTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation