Incidental Mutation 'IGL00235:Hapln1'
ID |
2161 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hapln1
|
Ensembl Gene |
ENSMUSG00000021613 |
Gene Name |
hyaluronan and proteoglycan link protein 1 |
Synonyms |
LP-1, cartilage linking protein 1, Crtl1l, link protein, CLP, Crtl1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00235
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
89688654-89759951 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 89756261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 355
(Y355S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022108
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022108]
|
AlphaFold |
Q9QUP5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022108
AA Change: Y355S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000022108 Gene: ENSMUSG00000021613 AA Change: Y355S
Domain | Start | End | E-Value | Type |
IGv
|
58 |
143 |
3.48e-12 |
SMART |
LINK
|
159 |
256 |
7.26e-61 |
SMART |
LINK
|
260 |
353 |
8.35e-52 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in cartilage development and delayed bone formation with short limbs and craniofacial anomalies. Mutants usually die as neonates due to respiratory failure, but some survive and develop dwarfism. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
G |
A |
16: 35,073,583 (GRCm39) |
E454K |
possibly damaging |
Het |
Agl |
T |
C |
3: 116,565,132 (GRCm39) |
H1039R |
probably benign |
Het |
Akap3 |
T |
C |
6: 126,842,694 (GRCm39) |
F438L |
probably benign |
Het |
Casp1 |
A |
T |
9: 5,299,872 (GRCm39) |
|
probably benign |
Het |
Cnih2 |
G |
T |
19: 5,148,301 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
G |
A |
7: 105,407,950 (GRCm39) |
R1961C |
probably damaging |
Het |
Defb21 |
G |
A |
2: 152,416,712 (GRCm39) |
V63I |
probably benign |
Het |
Elovl6 |
T |
A |
3: 129,422,025 (GRCm39) |
N105K |
probably benign |
Het |
Fam83e |
A |
T |
7: 45,376,493 (GRCm39) |
E402V |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,036,398 (GRCm39) |
I3350N |
probably damaging |
Het |
Gmpr2 |
C |
A |
14: 55,913,171 (GRCm39) |
F149L |
probably damaging |
Het |
Gucy1b2 |
C |
A |
14: 62,643,694 (GRCm39) |
V636F |
probably damaging |
Het |
Hoxb13 |
G |
T |
11: 96,085,468 (GRCm39) |
C67F |
possibly damaging |
Het |
Hspa12b |
T |
A |
2: 130,976,040 (GRCm39) |
I14N |
probably damaging |
Het |
Ighe |
C |
A |
12: 113,235,135 (GRCm39) |
V342L |
unknown |
Het |
Ighv1-49 |
A |
T |
12: 115,019,076 (GRCm39) |
S21T |
possibly damaging |
Het |
Klhl17 |
A |
G |
4: 156,318,319 (GRCm39) |
I101T |
possibly damaging |
Het |
Lrrd1 |
T |
G |
5: 3,900,573 (GRCm39) |
L293V |
possibly damaging |
Het |
Lyrm4 |
T |
A |
13: 36,276,865 (GRCm39) |
K44M |
probably damaging |
Het |
Med15 |
G |
T |
16: 17,498,590 (GRCm39) |
P101T |
probably damaging |
Het |
Mgat4c |
A |
T |
10: 102,224,581 (GRCm39) |
H265L |
probably damaging |
Het |
Mme |
T |
A |
3: 63,247,465 (GRCm39) |
I250N |
possibly damaging |
Het |
Mxra8 |
C |
A |
4: 155,927,020 (GRCm39) |
T318N |
probably benign |
Het |
Nlrp9b |
G |
A |
7: 19,757,203 (GRCm39) |
V147I |
probably benign |
Het |
Npepl1 |
G |
T |
2: 173,962,341 (GRCm39) |
V336L |
probably damaging |
Het |
Or1e23 |
G |
A |
11: 73,407,236 (GRCm39) |
S263L |
possibly damaging |
Het |
Pank2 |
T |
C |
2: 131,116,089 (GRCm39) |
I169T |
possibly damaging |
Het |
Pgap6 |
T |
C |
17: 26,336,493 (GRCm39) |
S204P |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,419,415 (GRCm39) |
H2960L |
probably damaging |
Het |
Pnpla8 |
A |
G |
12: 44,329,852 (GRCm39) |
R135G |
probably benign |
Het |
Prdm8 |
T |
G |
5: 98,331,202 (GRCm39) |
V18G |
probably damaging |
Het |
Rhox7b |
G |
T |
X: 36,978,539 (GRCm39) |
P231T |
probably damaging |
Het |
Rnf121 |
A |
T |
7: 101,714,322 (GRCm39) |
|
probably benign |
Het |
Skap1 |
T |
C |
11: 96,380,736 (GRCm39) |
F45S |
probably damaging |
Het |
Slc4a5 |
T |
A |
6: 83,262,881 (GRCm39) |
L791Q |
probably damaging |
Het |
Ssh1 |
T |
C |
5: 114,080,637 (GRCm39) |
D931G |
probably damaging |
Het |
Txndc16 |
T |
C |
14: 45,399,807 (GRCm39) |
Y382C |
probably damaging |
Het |
Uhrf2 |
T |
C |
19: 30,051,346 (GRCm39) |
F307L |
probably benign |
Het |
Zfhx2 |
C |
A |
14: 55,300,714 (GRCm39) |
A2346S |
probably benign |
Het |
|
Other mutations in Hapln1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00494:Hapln1
|
APN |
13 |
89,753,590 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01865:Hapln1
|
APN |
13 |
89,749,784 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02706:Hapln1
|
APN |
13 |
89,753,578 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02990:Hapln1
|
APN |
13 |
89,749,725 (GRCm39) |
missense |
probably benign |
0.03 |
R0033:Hapln1
|
UTSW |
13 |
89,749,932 (GRCm39) |
missense |
probably benign |
0.20 |
R0058:Hapln1
|
UTSW |
13 |
89,755,997 (GRCm39) |
missense |
probably benign |
0.17 |
R0058:Hapln1
|
UTSW |
13 |
89,755,997 (GRCm39) |
missense |
probably benign |
0.17 |
R0127:Hapln1
|
UTSW |
13 |
89,755,988 (GRCm39) |
missense |
probably benign |
0.22 |
R0519:Hapln1
|
UTSW |
13 |
89,732,835 (GRCm39) |
start gained |
probably benign |
|
R3862:Hapln1
|
UTSW |
13 |
89,753,418 (GRCm39) |
nonsense |
probably null |
|
R3982:Hapln1
|
UTSW |
13 |
89,753,560 (GRCm39) |
missense |
probably benign |
|
R4717:Hapln1
|
UTSW |
13 |
89,753,579 (GRCm39) |
missense |
probably benign |
0.11 |
R4861:Hapln1
|
UTSW |
13 |
89,749,571 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4861:Hapln1
|
UTSW |
13 |
89,749,571 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4862:Hapln1
|
UTSW |
13 |
89,749,571 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4899:Hapln1
|
UTSW |
13 |
89,749,769 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5402:Hapln1
|
UTSW |
13 |
89,753,530 (GRCm39) |
missense |
probably benign |
0.07 |
R5629:Hapln1
|
UTSW |
13 |
89,749,634 (GRCm39) |
missense |
probably damaging |
0.98 |
R6019:Hapln1
|
UTSW |
13 |
89,756,219 (GRCm39) |
missense |
probably benign |
0.45 |
R7917:Hapln1
|
UTSW |
13 |
89,755,997 (GRCm39) |
missense |
probably benign |
0.17 |
R7938:Hapln1
|
UTSW |
13 |
89,753,347 (GRCm39) |
missense |
probably damaging |
0.99 |
R8312:Hapln1
|
UTSW |
13 |
89,749,563 (GRCm39) |
missense |
probably benign |
|
R8345:Hapln1
|
UTSW |
13 |
89,732,902 (GRCm39) |
missense |
probably benign |
|
Z1088:Hapln1
|
UTSW |
13 |
89,749,617 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2011-12-09 |