Incidental Mutation 'R7713:Hapln3'
| ID |
594730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hapln3
|
| Ensembl Gene |
ENSMUSG00000030606 |
| Gene Name |
hyaluronan and proteoglycan link protein 3 |
| Synonyms |
4930554N11Rik, Lpr3 |
| MMRRC Submission |
045771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R7713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
78764850-78780766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78767121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 306
(R306H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032827]
[ENSMUST00000032835]
[ENSMUST00000205782]
[ENSMUST00000206092]
|
| AlphaFold |
Q80WM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032827
|
| SMART Domains |
Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606
| 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: ENSMUST00000032835
|
| SMART Domains |
Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGv
|
46 |
135 |
3.46e-7 |
SMART |
|
LINK
|
151 |
248 |
1.76e-59 |
SMART |
|
LINK
|
252 |
350 |
4.13e-65 |
SMART |
|
LINK
|
485 |
582 |
1.03e-51 |
SMART |
|
LINK
|
586 |
684 |
9.58e-61 |
SMART |
|
low complexity region
|
767 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
890 |
904 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
966 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1468 |
N/A |
INTRINSIC |
|
low complexity region
|
1484 |
1495 |
N/A |
INTRINSIC |
|
low complexity region
|
1707 |
1720 |
N/A |
INTRINSIC |
|
low complexity region
|
1808 |
1823 |
N/A |
INTRINSIC |
|
low complexity region
|
1904 |
1915 |
N/A |
INTRINSIC |
|
CLECT
|
1922 |
2043 |
2.13e-37 |
SMART |
|
CCP
|
2049 |
2105 |
9.32e-11 |
SMART |
|
low complexity region
|
2118 |
2130 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206092
AA Change: R306H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206779
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,066,173 (GRCm39) |
S119P |
possibly damaging |
Het |
| Agtpbp1 |
T |
A |
13: 59,661,966 (GRCm39) |
I282F |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,071,425 (GRCm39) |
M355K |
possibly damaging |
Het |
| Cep128 |
A |
T |
12: 90,986,096 (GRCm39) |
D1013E |
probably benign |
Het |
| Clock |
A |
T |
5: 76,393,267 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
T |
G |
13: 113,483,075 (GRCm39) |
V1559G |
|
Het |
| D630003M21Rik |
G |
A |
2: 158,058,698 (GRCm39) |
Q401* |
probably null |
Het |
| Dnah17 |
C |
A |
11: 117,915,997 (GRCm39) |
V4302L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,386 (GRCm39) |
Y179C |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,410,318 (GRCm39) |
T647A |
probably benign |
Het |
| Esrp2 |
T |
C |
8: 106,860,908 (GRCm39) |
T205A |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,874,872 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,356,159 (GRCm39) |
P965S |
unknown |
Het |
| Fndc7 |
C |
T |
3: 108,777,979 (GRCm39) |
V412M |
possibly damaging |
Het |
| G2e3 |
C |
A |
12: 51,415,839 (GRCm39) |
A525E |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,918,371 (GRCm39) |
R354C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,508 (GRCm39) |
N510K |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,140,820 (GRCm39) |
T389I |
unknown |
Het |
| Hydin |
T |
C |
8: 111,320,444 (GRCm39) |
L4496P |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,867,952 (GRCm39) |
I219L |
probably benign |
Het |
| Kcnj2 |
T |
C |
11: 110,963,309 (GRCm39) |
S234P |
probably benign |
Het |
| Lipf |
T |
A |
19: 33,950,465 (GRCm39) |
S286T |
probably damaging |
Het |
| Lrrc32 |
G |
T |
7: 98,148,545 (GRCm39) |
G442W |
probably damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,488,550 (GRCm39) |
V68A |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,055,754 (GRCm39) |
S1146P |
possibly damaging |
Het |
| Naa35 |
T |
C |
13: 59,745,919 (GRCm39) |
I75T |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,277,274 (GRCm39) |
F337I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,316,432 (GRCm39) |
M496V |
probably benign |
Het |
| Nthl1 |
A |
T |
17: 24,857,631 (GRCm39) |
I277F |
possibly damaging |
Het |
| Or10a3 |
A |
C |
7: 108,479,889 (GRCm39) |
I308S |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,728,122 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
T |
12: 9,629,253 (GRCm39) |
Y42F |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,594,422 (GRCm39) |
R369W |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,465,691 (GRCm39) |
T4828S |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 109,010,133 (GRCm39) |
C211S |
probably damaging |
Het |
| Ube4b |
C |
T |
4: 149,483,238 (GRCm39) |
R10Q |
possibly damaging |
Het |
| Usp9y |
G |
A |
Y: 1,304,411 (GRCm39) |
Q2440* |
probably null |
Het |
| Yars1 |
G |
T |
4: 129,104,291 (GRCm39) |
V312L |
probably benign |
Het |
| Zfp26 |
G |
A |
9: 20,352,630 (GRCm39) |
T145I |
probably benign |
Het |
| Zic5 |
T |
C |
14: 122,701,525 (GRCm39) |
N402S |
unknown |
Het |
|
| Other mutations in Hapln3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Hapln3
|
APN |
7 |
78,771,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCACCCTGCTAATGCTG -3'
(R):5'- GTGGCCCTTCAAAGTGTCTAATAC -3'
Sequencing Primer
(F):5'- GCTGGACATAGCAGTAGACACC -3'
(R):5'- GTGTCTAATACAGATTCCCATAAGGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation