Incidental Mutation 'R1337:Hapln3'
| ID |
156904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hapln3
|
| Ensembl Gene |
ENSMUSG00000030606 |
| Gene Name |
hyaluronan and proteoglycan link protein 3 |
| Synonyms |
4930554N11Rik, Lpr3 |
| MMRRC Submission |
039402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1337 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
78764850-78780766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78767824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 190
(E190G)
|
| 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
AA Change: S109G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606
AA Change: S109G
| 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
AA Change: E190G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206092
AA Change: E190G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206779
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,719,033 (GRCm39) |
S37P |
unknown |
Het |
| Abca12 |
T |
C |
1: 71,333,978 (GRCm39) |
I1175V |
probably benign |
Het |
| Ager |
G |
T |
17: 34,819,596 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,604,416 (GRCm39) |
I1278T |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,645,721 (GRCm39) |
V1598A |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,136,497 (GRCm39) |
|
probably null |
Het |
| Ces2g |
A |
T |
8: 105,690,597 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,258 (GRCm39) |
M1015K |
probably benign |
Het |
| Engase |
A |
G |
11: 118,373,400 (GRCm39) |
T248A |
possibly damaging |
Het |
| Gsdma |
C |
T |
11: 98,560,533 (GRCm39) |
Q162* |
probably null |
Het |
| Hdc |
T |
C |
2: 126,458,196 (GRCm39) |
Q42R |
probably benign |
Het |
| Larp1b |
C |
T |
3: 40,987,837 (GRCm39) |
P20S |
probably damaging |
Het |
| Macf1 |
T |
G |
4: 123,370,068 (GRCm39) |
R1564S |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,361 (GRCm39) |
Y1769C |
unknown |
Het |
| Nup88 |
T |
A |
11: 70,835,716 (GRCm39) |
Q576L |
probably damaging |
Het |
| Or51f1 |
T |
C |
7: 102,506,078 (GRCm39) |
N137S |
probably benign |
Het |
| Or7g21 |
A |
G |
9: 19,033,099 (GRCm39) |
I280V |
probably benign |
Het |
| Prune2 |
C |
T |
19: 17,096,971 (GRCm39) |
S825L |
possibly damaging |
Het |
| Ryr3 |
C |
A |
2: 112,610,308 (GRCm39) |
M2301I |
possibly damaging |
Het |
| Sdk2 |
A |
C |
11: 113,723,157 (GRCm39) |
V1278G |
possibly damaging |
Het |
| Sertad3 |
T |
C |
7: 27,175,866 (GRCm39) |
L100P |
probably damaging |
Het |
| Slco5a1 |
T |
C |
1: 13,009,366 (GRCm39) |
T370A |
probably benign |
Het |
| Srrm1 |
A |
G |
4: 135,074,044 (GRCm39) |
|
probably null |
Het |
| Stk32a |
A |
G |
18: 43,394,414 (GRCm39) |
D121G |
probably benign |
Het |
| Ttc7 |
A |
T |
17: 87,597,724 (GRCm39) |
R99W |
probably damaging |
Het |
| Xkr9 |
C |
A |
1: 13,771,348 (GRCm39) |
S288Y |
possibly damaging |
Het |
| Zfp644 |
A |
G |
5: 106,785,420 (GRCm39) |
S376P |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTACTGAGCACCTACCACATGCC -3'
(R):5'- GCCAGCAGAATCTGTGTTTTGGACG -3'
Sequencing Primer
(F):5'- GCCAGCAGATGCTTTTTAAACC -3'
(R):5'- GGACGCACGTAGATCTTGG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation