Incidental Mutation 'R8065:Hmmr'
ID |
619953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hmmr
|
Ensembl Gene |
ENSMUSG00000020330 |
Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
Synonyms |
CD168, Rhamm |
MMRRC Submission |
067501-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8065 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
40592222-40624249 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 40612499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 206
(S206F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020579
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020579]
|
AlphaFold |
Q00547 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020579
AA Change: S206F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020579 Gene: ENSMUSG00000020330 AA Change: S206F
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 |
|
Meta Mutation Damage Score |
0.0706 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (47/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cap2 |
T |
C |
13: 46,791,337 (GRCm39) |
V280A |
probably damaging |
Het |
Cbx7 |
A |
T |
15: 79,818,099 (GRCm39) |
V1D |
unknown |
Het |
Chodl |
A |
T |
16: 78,743,601 (GRCm39) |
L229F |
probably damaging |
Het |
Depdc5 |
C |
A |
5: 33,053,252 (GRCm39) |
N197K |
possibly damaging |
Het |
Diaph3 |
A |
T |
14: 87,274,931 (GRCm39) |
L175Q |
probably damaging |
Het |
Dlat |
A |
T |
9: 50,569,149 (GRCm39) |
M218K |
possibly damaging |
Het |
Dnai1 |
T |
A |
4: 41,614,258 (GRCm39) |
D311E |
probably damaging |
Het |
Dpp10 |
A |
G |
1: 123,280,389 (GRCm39) |
S646P |
probably benign |
Het |
Ebf1 |
G |
A |
11: 44,511,374 (GRCm39) |
V90M |
probably benign |
Het |
Efhd1 |
C |
T |
1: 87,192,313 (GRCm39) |
P48S |
probably benign |
Het |
Fbxl16 |
G |
A |
17: 26,036,957 (GRCm39) |
V313I |
probably damaging |
Het |
Flrt2 |
A |
G |
12: 95,747,548 (GRCm39) |
T629A |
probably benign |
Het |
Gpr87 |
T |
A |
3: 59,087,308 (GRCm39) |
I66F |
probably damaging |
Het |
Hsd17b4 |
A |
T |
18: 50,303,819 (GRCm39) |
I431F |
possibly damaging |
Het |
Iba57 |
T |
C |
11: 59,054,086 (GRCm39) |
|
probably benign |
Het |
Ibtk |
A |
C |
9: 85,602,916 (GRCm39) |
S696R |
probably benign |
Het |
Igkv11-125 |
C |
A |
6: 67,890,814 (GRCm39) |
T44N |
probably benign |
Het |
Itih2 |
T |
A |
2: 10,128,294 (GRCm39) |
I136F |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,329,836 (GRCm39) |
D1543E |
probably benign |
Het |
Ldlr |
T |
A |
9: 21,649,241 (GRCm39) |
C339S |
probably damaging |
Het |
Myh2 |
G |
A |
11: 67,072,170 (GRCm39) |
E633K |
probably null |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Mylk |
A |
T |
16: 34,792,389 (GRCm39) |
E1570V |
probably benign |
Het |
Myo15b |
G |
A |
11: 115,778,769 (GRCm39) |
|
probably null |
Het |
N4bp2 |
T |
A |
5: 65,964,639 (GRCm39) |
L896H |
probably damaging |
Het |
Naip2 |
A |
T |
13: 100,325,730 (GRCm39) |
S59R |
probably damaging |
Het |
Ndc1 |
T |
A |
4: 107,247,595 (GRCm39) |
S468T |
probably benign |
Het |
Ndst3 |
T |
C |
3: 123,395,094 (GRCm39) |
N512S |
probably damaging |
Het |
Or51b6 |
A |
G |
7: 103,555,610 (GRCm39) |
|
probably benign |
Het |
Or5w15 |
T |
A |
2: 87,568,147 (GRCm39) |
I174F |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,312,697 (GRCm39) |
I54V |
possibly damaging |
Het |
Polr3c |
T |
C |
3: 96,622,968 (GRCm39) |
E350G |
probably null |
Het |
Pskh1 |
T |
G |
8: 106,656,487 (GRCm39) |
S388A |
possibly damaging |
Het |
Pum1 |
T |
C |
4: 130,478,836 (GRCm39) |
V486A |
possibly damaging |
Het |
Rin2 |
T |
G |
2: 145,702,977 (GRCm39) |
S558A |
probably damaging |
Het |
Ripk4 |
A |
T |
16: 97,564,737 (GRCm39) |
V58D |
probably damaging |
Het |
Slc17a3 |
A |
G |
13: 24,042,070 (GRCm39) |
R491G |
unknown |
Het |
Smyd3 |
A |
G |
1: 179,238,028 (GRCm39) |
M113T |
possibly damaging |
Het |
Ssh2 |
A |
G |
11: 77,332,811 (GRCm39) |
R431G |
probably damaging |
Het |
Timm22 |
G |
A |
11: 76,304,931 (GRCm39) |
D190N |
probably damaging |
Het |
Ube2g1 |
G |
A |
11: 72,568,591 (GRCm39) |
G103D |
probably benign |
Het |
Zbtb5 |
A |
T |
4: 44,994,972 (GRCm39) |
S137R |
probably benign |
Het |
Zfp105 |
A |
G |
9: 122,754,194 (GRCm39) |
T8A |
probably benign |
Het |
Zfp286 |
A |
T |
11: 62,644,345 (GRCm39) |
I192K |
unknown |
Het |
Zfp942 |
T |
C |
17: 22,149,391 (GRCm39) |
Y38C |
probably damaging |
Het |
Zfpm1 |
T |
C |
8: 123,062,323 (GRCm39) |
S461P |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAAAGCTGGGCTGTTTTCAG -3'
(R):5'- GCCTGGAATTGATGAAACTCAG -3'
Sequencing Primer
(F):5'- CTGTTTTCAGTATAACGAAACGAGG -3'
(R):5'- AATAAGAGAGAGACAAAGATGAGGG -3'
|
Posted On |
2020-01-23 |