Incidental Mutation 'IGL02224:Hmmr'
| ID |
285262 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hmmr
|
| Ensembl Gene |
ENSMUSG00000020330 |
| Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
| Synonyms |
CD168, Rhamm |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02224
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
40592222-40624249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40600831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 513
(Q513R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020579]
|
| AlphaFold |
Q00547 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000020579
AA Change: Q513R
|
| SMART Domains |
Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330
AA Change: Q513R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMMR_N
|
15 |
339 |
1.2e-136 |
PFAM |
|
low complexity region
|
375 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
442 |
N/A |
INTRINSIC |
|
Blast:MA
|
452 |
578 |
7e-6 |
BLAST |
|
Pfam:HMMR_C
|
636 |
789 |
4.3e-71 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for mutations of this gene exhibit impaired fertility and are less susceptible to the formation of aggressive fibromatosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
A |
13: 4,329,289 (GRCm39) |
T23S |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,726,616 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,361,810 (GRCm39) |
|
probably benign |
Het |
| Atr |
C |
T |
9: 95,760,682 (GRCm39) |
R1051C |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,110 (GRCm39) |
D309G |
probably benign |
Het |
| C130026L21Rik |
A |
G |
5: 111,730,291 (GRCm39) |
|
noncoding transcript |
Het |
| Cadm3 |
A |
G |
1: 173,165,628 (GRCm39) |
I344T |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,924,318 (GRCm39) |
T370A |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,741,534 (GRCm39) |
S2462T |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,937,332 (GRCm39) |
N739Y |
probably benign |
Het |
| Ensa |
T |
C |
3: 95,535,990 (GRCm39) |
S108P |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,545,281 (GRCm39) |
|
probably null |
Het |
| Fbp1 |
T |
A |
13: 63,035,821 (GRCm39) |
T13S |
probably damaging |
Het |
| Flrt2 |
C |
A |
12: 95,746,802 (GRCm39) |
T380K |
possibly damaging |
Het |
| Gpatch11 |
T |
C |
17: 79,148,522 (GRCm39) |
|
probably benign |
Het |
| Hagh |
A |
G |
17: 25,071,861 (GRCm39) |
D29G |
probably damaging |
Het |
| Hoxb8 |
T |
C |
11: 96,173,981 (GRCm39) |
S65P |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,169,271 (GRCm39) |
|
probably benign |
Het |
| Lbp |
A |
G |
2: 158,148,669 (GRCm39) |
N27S |
probably damaging |
Het |
| Msh4 |
G |
A |
3: 153,595,822 (GRCm39) |
T76I |
possibly damaging |
Het |
| Nfat5 |
T |
C |
8: 108,071,447 (GRCm39) |
V281A |
probably benign |
Het |
| Or10ag53 |
C |
T |
2: 87,082,821 (GRCm39) |
S180F |
probably benign |
Het |
| Or13c25 |
A |
T |
4: 52,911,392 (GRCm39) |
V134D |
probably damaging |
Het |
| Or4p20 |
C |
T |
2: 88,254,052 (GRCm39) |
|
probably null |
Het |
| Or5b106 |
T |
A |
19: 13,123,120 (GRCm39) |
K301M |
probably damaging |
Het |
| Or5w16 |
T |
A |
2: 87,576,757 (GRCm39) |
C72* |
probably null |
Het |
| Phf11b |
A |
T |
14: 59,563,515 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,962,575 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,549,064 (GRCm39) |
F66L |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,538,459 (GRCm39) |
H108R |
probably damaging |
Het |
| Spta1 |
C |
A |
1: 174,045,255 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
A |
G |
2: 128,676,127 (GRCm39) |
I297V |
possibly damaging |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,068 (GRCm39) |
R229G |
probably damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,174,960 (GRCm39) |
R524* |
probably null |
Het |
| Washc2 |
T |
A |
6: 116,197,530 (GRCm39) |
D254E |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp773 |
T |
C |
7: 7,135,975 (GRCm39) |
H207R |
probably benign |
Het |
|
| Other mutations in Hmmr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01795:Hmmr
|
APN |
11 |
40,612,561 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02096:Hmmr
|
APN |
11 |
40,598,256 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02527:Hmmr
|
APN |
11 |
40,598,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02870:Hmmr
|
APN |
11 |
40,604,902 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03175:Hmmr
|
APN |
11 |
40,605,636 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03327:Hmmr
|
APN |
11 |
40,606,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Hmmr
|
UTSW |
11 |
40,596,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Hmmr
|
UTSW |
11 |
40,605,635 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0533:Hmmr
|
UTSW |
11 |
40,600,816 (GRCm39) |
missense |
unknown |
|
|
R0610:Hmmr
|
UTSW |
11 |
40,606,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0747:Hmmr
|
UTSW |
11 |
40,612,572 (GRCm39) |
splice site |
probably benign |
|
|
R1909:Hmmr
|
UTSW |
11 |
40,598,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Hmmr
|
UTSW |
11 |
40,619,259 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4446:Hmmr
|
UTSW |
11 |
40,606,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Hmmr
|
UTSW |
11 |
40,619,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4937:Hmmr
|
UTSW |
11 |
40,612,667 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5795:Hmmr
|
UTSW |
11 |
40,612,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5873:Hmmr
|
UTSW |
11 |
40,598,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6414:Hmmr
|
UTSW |
11 |
40,606,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6962:Hmmr
|
UTSW |
11 |
40,598,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Hmmr
|
UTSW |
11 |
40,598,613 (GRCm39) |
splice site |
probably null |
|
|
R7558:Hmmr
|
UTSW |
11 |
40,624,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Hmmr
|
UTSW |
11 |
40,606,256 (GRCm39) |
splice site |
probably null |
|
|
R8065:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8255:Hmmr
|
UTSW |
11 |
40,598,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8304:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8306:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8307:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8308:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8387:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Hmmr
|
UTSW |
11 |
40,598,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8820:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Hmmr
|
UTSW |
11 |
40,612,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Hmmr
|
UTSW |
11 |
40,604,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9312:Hmmr
|
UTSW |
11 |
40,614,316 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9453:Hmmr
|
UTSW |
11 |
40,612,655 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9468:Hmmr
|
UTSW |
11 |
40,614,314 (GRCm39) |
nonsense |
probably null |
|
|
R9601:Hmmr
|
UTSW |
11 |
40,598,210 (GRCm39) |
nonsense |
probably null |
|
|
T0975:Hmmr
|
UTSW |
11 |
40,614,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation