Incidental Mutation 'IGL00095:Hapln3'
| ID |
1484 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hapln3
|
| Ensembl Gene |
ENSMUSG00000030606 |
| Gene Name |
hyaluronan and proteoglycan link protein 3 |
| Synonyms |
4930554N11Rik, Lpr3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL00095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
78764850-78780766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78771731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 53
(T53A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032827]
[ENSMUST00000205782]
[ENSMUST00000206092]
|
| AlphaFold |
Q80WM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032827
AA Change: T53A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606
AA Change: T53A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
IGv
|
65 |
148 |
3.28e-8 |
SMART |
|
LINK
|
164 |
261 |
1.78e-46 |
SMART |
|
LINK
|
265 |
357 |
3.14e-47 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205782
AA Change: T53A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206092
AA Change: T53A
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206402
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cadm2 |
A |
T |
16: 66,679,639 (GRCm39) |
Y65N |
probably damaging |
Het |
| Catsperg2 |
C |
A |
7: 29,397,483 (GRCm39) |
C1042F |
possibly damaging |
Het |
| Cluh |
T |
C |
11: 74,554,890 (GRCm39) |
V776A |
probably benign |
Het |
| Crxos |
T |
A |
7: 15,632,543 (GRCm39) |
C116* |
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,059,297 (GRCm39) |
|
probably benign |
Het |
| Cubn |
C |
A |
2: 13,496,631 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
G |
13: 31,004,609 (GRCm39) |
I858T |
probably benign |
Het |
| Frmpd1 |
C |
A |
4: 45,279,456 (GRCm39) |
T727K |
possibly damaging |
Het |
| Hnrnpul1 |
T |
A |
7: 25,425,579 (GRCm39) |
Q584L |
possibly damaging |
Het |
| Ikbkb |
A |
T |
8: 23,196,127 (GRCm39) |
F26I |
probably damaging |
Het |
| Il31ra |
A |
T |
13: 112,684,012 (GRCm39) |
I120N |
possibly damaging |
Het |
| Itih1 |
C |
T |
14: 30,651,778 (GRCm39) |
V855M |
probably benign |
Het |
| Krtap4-16 |
A |
G |
11: 99,742,032 (GRCm39) |
S123P |
possibly damaging |
Het |
| Large1 |
C |
T |
8: 73,564,125 (GRCm39) |
R547Q |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,111 (GRCm39) |
|
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,630,800 (GRCm39) |
V770A |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,440,074 (GRCm39) |
F511L |
probably benign |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,839 (GRCm39) |
V276A |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,677,594 (GRCm39) |
T666A |
probably damaging |
Het |
| Ndufa8 |
T |
C |
2: 35,934,467 (GRCm39) |
D37G |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,164,576 (GRCm39) |
L956P |
probably damaging |
Het |
| Nr5a1 |
T |
C |
2: 38,598,353 (GRCm39) |
E148G |
probably benign |
Het |
| Or10ab5 |
A |
T |
7: 108,245,043 (GRCm39) |
F247I |
possibly damaging |
Het |
| Or14c46 |
T |
C |
7: 85,918,877 (GRCm39) |
N40S |
probably damaging |
Het |
| Otulinl |
A |
G |
15: 27,658,202 (GRCm39) |
S273P |
possibly damaging |
Het |
| Patj |
A |
C |
4: 98,423,799 (GRCm39) |
Q1184P |
possibly damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,500,884 (GRCm39) |
T619A |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,173,441 (GRCm39) |
T643A |
probably damaging |
Het |
| Pramel42 |
T |
C |
5: 94,685,663 (GRCm39) |
L441P |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,483,677 (GRCm39) |
S510P |
probably damaging |
Het |
| Spock1 |
A |
G |
13: 57,735,552 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,297,400 (GRCm39) |
T577M |
probably damaging |
Het |
| Tap2 |
C |
T |
17: 34,434,352 (GRCm39) |
R613C |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,953,021 (GRCm39) |
V673A |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,716,784 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,068 (GRCm39) |
D393G |
probably benign |
Het |
| Zbtb48 |
T |
C |
4: 152,105,851 (GRCm39) |
H418R |
probably damaging |
Het |
| Zc3h12d |
T |
C |
10: 7,738,231 (GRCm39) |
V179A |
probably damaging |
Het |
|
| Other mutations in Hapln3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01412:Hapln3
|
APN |
7 |
78,767,184 (GRCm39) |
splice site |
probably null |
|
|
IGL02141:Hapln3
|
APN |
7 |
78,767,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02675:Hapln3
|
APN |
7 |
78,767,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02864:Hapln3
|
APN |
7 |
78,767,812 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02894:Hapln3
|
APN |
7 |
78,771,521 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1271:Hapln3
|
UTSW |
7 |
78,767,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1337:Hapln3
|
UTSW |
7 |
78,767,824 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1351:Hapln3
|
UTSW |
7 |
78,771,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Hapln3
|
UTSW |
7 |
78,771,638 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1718:Hapln3
|
UTSW |
7 |
78,773,198 (GRCm39) |
missense |
unknown |
|
|
R3103:Hapln3
|
UTSW |
7 |
78,771,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5625:Hapln3
|
UTSW |
7 |
78,767,006 (GRCm39) |
splice site |
probably null |
|
|
R5669:Hapln3
|
UTSW |
7 |
78,767,244 (GRCm39) |
splice site |
probably null |
|
|
R5862:Hapln3
|
UTSW |
7 |
78,771,639 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5875:Hapln3
|
UTSW |
7 |
78,771,721 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7129:Hapln3
|
UTSW |
7 |
78,771,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7439:Hapln3
|
UTSW |
7 |
78,767,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7713:Hapln3
|
UTSW |
7 |
78,767,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8894:Hapln3
|
UTSW |
7 |
78,767,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8896:Hapln3
|
UTSW |
7 |
78,767,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8933:Hapln3
|
UTSW |
7 |
78,767,378 (GRCm39) |
unclassified |
probably benign |
|
|
R9114:Hapln3
|
UTSW |
7 |
78,771,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9367:Hapln3
|
UTSW |
7 |
78,771,455 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9723:Hapln3
|
UTSW |
7 |
78,771,736 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2011-07-12 |
Incidental Mutation