Incidental Mutation 'IGL02096:Hmmr'
| ID |
281113 |
| 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 # |
IGL02096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
40592222-40624249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40598256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 652
(V652E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020579]
|
| AlphaFold |
Q00547 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020579
AA Change: V652E
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330
AA Change: V652E
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,993,359 (GRCm39) |
L1584P |
probably damaging |
Het |
| Abca9 |
G |
T |
11: 110,056,806 (GRCm39) |
H5N |
probably benign |
Het |
| Acox1 |
A |
T |
11: 116,069,024 (GRCm39) |
I371N |
probably damaging |
Het |
| Aopep |
C |
A |
13: 63,208,903 (GRCm39) |
A340E |
probably benign |
Het |
| Bmp5 |
A |
G |
9: 75,805,833 (GRCm39) |
N445S |
probably damaging |
Het |
| Cacna1b |
G |
T |
2: 24,568,927 (GRCm39) |
A999E |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,419,394 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,308,349 (GRCm39) |
E2134G |
possibly damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,078,062 (GRCm39) |
N698S |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,174,655 (GRCm39) |
K1271M |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,599,254 (GRCm39) |
Y1870H |
possibly damaging |
Het |
| Edem3 |
A |
G |
1: 151,680,470 (GRCm39) |
T532A |
probably benign |
Het |
| Epx |
A |
T |
11: 87,760,294 (GRCm39) |
L440Q |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,699,791 (GRCm39) |
F432L |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,630,341 (GRCm39) |
P59Q |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,204 (GRCm39) |
D5979G |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,207 (GRCm39) |
S335P |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,258,284 (GRCm39) |
Q1262L |
probably damaging |
Het |
| Iapp |
A |
T |
6: 142,249,199 (GRCm39) |
N84I |
probably benign |
Het |
| Katnip |
G |
A |
7: 125,413,993 (GRCm39) |
C379Y |
probably benign |
Het |
| Mmp17 |
C |
T |
5: 129,675,752 (GRCm39) |
Q304* |
probably null |
Het |
| Mpl |
T |
C |
4: 118,314,333 (GRCm39) |
T55A |
possibly damaging |
Het |
| Mst1r |
G |
A |
9: 107,794,478 (GRCm39) |
R1219H |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,117 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
C |
T |
14: 123,831,915 (GRCm39) |
V120I |
probably benign |
Het |
| Nt5dc1 |
A |
T |
10: 34,275,806 (GRCm39) |
C134* |
probably null |
Het |
| Obscn |
A |
C |
11: 58,971,530 (GRCm39) |
N2228K |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Osbpl10 |
T |
C |
9: 115,046,062 (GRCm39) |
M566T |
possibly damaging |
Het |
| Pabpc1l |
G |
A |
2: 163,886,267 (GRCm39) |
V466I |
probably benign |
Het |
| Pdcd11 |
T |
G |
19: 47,094,860 (GRCm39) |
V548G |
probably benign |
Het |
| Prss27 |
G |
T |
17: 24,263,951 (GRCm39) |
K212N |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,297,789 (GRCm39) |
S399T |
probably damaging |
Het |
| Rgs19 |
A |
G |
2: 181,331,076 (GRCm39) |
S159P |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,068,465 (GRCm39) |
S449P |
probably damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,820,870 (GRCm39) |
Y238F |
probably benign |
Het |
| Stx11 |
T |
C |
10: 12,817,224 (GRCm39) |
I167V |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,371 (GRCm39) |
M300V |
possibly damaging |
Het |
| Synj2 |
A |
G |
17: 6,040,628 (GRCm39) |
T235A |
probably damaging |
Het |
| Ubxn2b |
T |
A |
4: 6,214,749 (GRCm39) |
I261N |
probably damaging |
Het |
| Vmn2r43 |
G |
A |
7: 8,260,512 (GRCm39) |
|
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,484,443 (GRCm39) |
M454T |
probably damaging |
Het |
| Vsig2 |
T |
A |
9: 37,451,251 (GRCm39) |
S51T |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,153,964 (GRCm39) |
|
probably benign |
Het |
| Wdr6 |
A |
C |
9: 108,453,752 (GRCm39) |
L44V |
probably damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,165,634 (GRCm39) |
Y5H |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,674,796 (GRCm39) |
Y587H |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,254 (GRCm39) |
K399N |
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 |
|
IGL02224:Hmmr
|
APN |
11 |
40,600,831 (GRCm39) |
missense |
unknown |
|
|
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