Incidental Mutation 'R4126:Ank'
| ID |
315417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ank
|
| Ensembl Gene |
ENSMUSG00000022265 |
| Gene Name |
progressive ankylosis |
| Synonyms |
D15Ertd221e |
| MMRRC Submission |
041634-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
R4126 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
27466763-27594995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 27590459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 348
(V348I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022875]
[ENSMUST00000228179]
|
| AlphaFold |
Q9JHZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022875
AA Change: V348I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022875
Gene: ENSMUSG00000022265
AA Change: V348I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANKH
|
1 |
345 |
1e-223 |
PFAM |
|
transmembrane domain
|
361 |
383 |
N/A |
INTRINSIC |
|
transmembrane domain
|
404 |
426 |
N/A |
INTRINSIC |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134004
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228179
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
89% (33/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals exhibit joint stiffness due to increased calcium deposits in calcified cartilages and die prematurely. Hyperostosis of craniofacial bones and the mandible has been reported in other mutants as well. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
A |
8: 60,984,703 (GRCm39) |
W249R |
probably benign |
Het |
| Atad3a |
A |
T |
4: 155,838,518 (GRCm39) |
|
probably benign |
Het |
| Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
| Cdk5rap1 |
A |
G |
2: 154,210,815 (GRCm39) |
C108R |
probably damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,309,413 (GRCm39) |
A1614D |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,777,912 (GRCm39) |
D2641G |
probably damaging |
Het |
| E2f8 |
T |
C |
7: 48,525,355 (GRCm39) |
I206V |
probably damaging |
Het |
| Glyat |
G |
T |
19: 12,628,843 (GRCm39) |
V213F |
probably benign |
Het |
| Gpatch1 |
C |
T |
7: 34,993,079 (GRCm39) |
|
probably null |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,047,426 (GRCm39) |
Y109H |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,084,674 (GRCm39) |
S548N |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
| Naalad2 |
T |
C |
9: 18,258,766 (GRCm39) |
Y503C |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,650,957 (GRCm39) |
V498A |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,568 (GRCm39) |
I276N |
probably damaging |
Het |
| Parp8 |
C |
A |
13: 117,005,005 (GRCm39) |
K685N |
possibly damaging |
Het |
| Prr14l |
G |
T |
5: 32,985,347 (GRCm39) |
H1383N |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Slc6a20a |
G |
T |
9: 123,489,598 (GRCm39) |
F148L |
probably damaging |
Het |
| Spag11b |
T |
C |
8: 19,191,395 (GRCm39) |
S23P |
possibly damaging |
Het |
| Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
| Taf11 |
T |
C |
17: 28,120,746 (GRCm39) |
K175E |
possibly damaging |
Het |
| Tll1 |
T |
C |
8: 64,571,048 (GRCm39) |
R175G |
possibly damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Usp4 |
T |
C |
9: 108,237,316 (GRCm39) |
V128A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,298,860 (GRCm39) |
F479L |
probably damaging |
Het |
| Zmiz1 |
T |
G |
14: 25,657,354 (GRCm39) |
S877A |
possibly damaging |
Het |
|
| Other mutations in Ank |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Ank
|
APN |
15 |
27,544,437 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02975:Ank
|
APN |
15 |
27,467,087 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0309:Ank
|
UTSW |
15 |
27,567,658 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0470:Ank
|
UTSW |
15 |
27,571,721 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1688:Ank
|
UTSW |
15 |
27,557,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Ank
|
UTSW |
15 |
27,591,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Ank
|
UTSW |
15 |
27,565,108 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2248:Ank
|
UTSW |
15 |
27,562,797 (GRCm39) |
splice site |
probably null |
|
|
R3113:Ank
|
UTSW |
15 |
27,571,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4027:Ank
|
UTSW |
15 |
27,544,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4028:Ank
|
UTSW |
15 |
27,544,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4029:Ank
|
UTSW |
15 |
27,544,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4030:Ank
|
UTSW |
15 |
27,544,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4124:Ank
|
UTSW |
15 |
27,571,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4508:Ank
|
UTSW |
15 |
27,565,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4517:Ank
|
UTSW |
15 |
27,562,835 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4631:Ank
|
UTSW |
15 |
27,467,176 (GRCm39) |
missense |
probably benign |
|
|
R4653:Ank
|
UTSW |
15 |
27,590,447 (GRCm39) |
missense |
probably null |
0.98 |
|
R5001:Ank
|
UTSW |
15 |
27,562,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5029:Ank
|
UTSW |
15 |
27,590,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5475:Ank
|
UTSW |
15 |
27,557,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7218:Ank
|
UTSW |
15 |
27,544,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Ank
|
UTSW |
15 |
27,571,742 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8530:Ank
|
UTSW |
15 |
27,544,490 (GRCm39) |
missense |
probably benign |
|
|
R8859:Ank
|
UTSW |
15 |
27,562,834 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8935:Ank
|
UTSW |
15 |
27,591,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9002:Ank
|
UTSW |
15 |
27,544,413 (GRCm39) |
nonsense |
probably null |
|
|
R9408:Ank
|
UTSW |
15 |
27,591,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCGTGATACTGGCAAATAGATG -3'
(R):5'- ATTGCCCACCACACCTTGAG -3'
Sequencing Primer
(F):5'- ATGCAAACCTGGGATGCC -3'
(R):5'- GACCACCTCACTCTTAGGCATTGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation