Incidental Mutation 'R8838:Hmmr'
| ID |
674279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmmr
|
| Ensembl Gene |
ENSMUSG00000020330 |
| Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
| Synonyms |
CD168, Rhamm |
| MMRRC Submission |
068666-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8838 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
40592222-40624249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40604854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 406
(T406A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020579]
|
| AlphaFold |
Q00547 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020579
AA Change: T406A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330
AA Change: T406A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,920,881 (GRCm39) |
I1498F |
probably damaging |
Het |
| Aco2 |
T |
A |
15: 81,796,128 (GRCm39) |
N508K |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,297,465 (GRCm39) |
S896P |
possibly damaging |
Het |
| Anapc2 |
T |
G |
2: 25,163,546 (GRCm39) |
V261G |
probably benign |
Het |
| Atm |
A |
G |
9: 53,427,851 (GRCm39) |
S420P |
probably damaging |
Het |
| Bag6 |
C |
T |
17: 35,363,367 (GRCm39) |
R736C |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,465,005 (GRCm39) |
T1590A |
possibly damaging |
Het |
| Cacna2d3 |
C |
T |
14: 28,691,220 (GRCm39) |
C35Y |
probably benign |
Het |
| Cep170b |
G |
A |
12: 112,710,159 (GRCm39) |
R1433H |
probably damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,008,036 (GRCm39) |
C138R |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,198,964 (GRCm39) |
V86E |
|
Het |
| Cog7 |
A |
G |
7: 121,549,106 (GRCm39) |
I385T |
probably damaging |
Het |
| Col28a1 |
A |
T |
6: 8,091,839 (GRCm39) |
|
probably null |
Het |
| Dkk3 |
T |
C |
7: 111,717,542 (GRCm39) |
E309G |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,842,614 (GRCm39) |
V1411A |
probably benign |
Het |
| Enox1 |
G |
T |
14: 77,819,950 (GRCm39) |
R235L |
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,252,438 (GRCm39) |
N317D |
possibly damaging |
Het |
| Grip2 |
G |
A |
6: 91,762,721 (GRCm39) |
|
probably benign |
Het |
| Hpcal1 |
G |
A |
12: 17,836,197 (GRCm39) |
R9H |
probably benign |
Het |
| Iglv3 |
A |
T |
16: 19,060,132 (GRCm39) |
Y65* |
probably null |
Het |
| Itgal |
A |
G |
7: 126,910,433 (GRCm39) |
Y514C |
probably damaging |
Het |
| Kcnk9 |
T |
C |
15: 72,418,019 (GRCm39) |
E37G |
possibly damaging |
Het |
| Klhl40 |
A |
G |
9: 121,609,107 (GRCm39) |
D424G |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,648,294 (GRCm39) |
L389P |
possibly damaging |
Het |
| Ly9 |
A |
G |
1: 171,421,569 (GRCm39) |
Y561H |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,845,126 (GRCm39) |
F441L |
probably damaging |
Het |
| Muc20 |
G |
T |
16: 32,613,829 (GRCm39) |
T516K |
possibly damaging |
Het |
| Naa35 |
T |
C |
13: 59,775,775 (GRCm39) |
M551T |
probably benign |
Het |
| Nkx6-2 |
T |
A |
7: 139,161,868 (GRCm39) |
T170S |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,069,337 (GRCm39) |
F413I |
|
Het |
| Or10w1 |
G |
A |
19: 13,632,371 (GRCm39) |
V193M |
probably damaging |
Het |
| Or1s2 |
C |
A |
19: 13,758,381 (GRCm39) |
T133K |
probably benign |
Het |
| Or6c1b |
T |
G |
10: 129,273,065 (GRCm39) |
L128R |
probably damaging |
Het |
| Or8k22 |
T |
C |
2: 86,163,317 (GRCm39) |
K128E |
possibly damaging |
Het |
| Pcdhga10 |
C |
T |
18: 37,881,952 (GRCm39) |
T571I |
possibly damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,747,256 (GRCm39) |
M310K |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,471,791 (GRCm39) |
T353A |
probably benign |
Het |
| Rapgef1 |
T |
C |
2: 29,627,458 (GRCm39) |
F1172S |
possibly damaging |
Het |
| Rfx2 |
T |
C |
17: 57,087,877 (GRCm39) |
T505A |
possibly damaging |
Het |
| Rfx4 |
T |
C |
10: 84,676,758 (GRCm39) |
V216A |
probably damaging |
Het |
| Rps6kb2 |
G |
T |
19: 4,211,183 (GRCm39) |
A114D |
probably damaging |
Het |
| Sdc2 |
T |
A |
15: 33,023,897 (GRCm39) |
L92* |
probably null |
Het |
| Slc18b1 |
A |
G |
10: 23,696,764 (GRCm39) |
Y319C |
probably benign |
Het |
| Slc22a15 |
A |
T |
3: 101,790,849 (GRCm39) |
Y219N |
probably damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,177,569 (GRCm39) |
|
probably benign |
Het |
| Tfap2d |
T |
C |
1: 19,175,036 (GRCm39) |
L163P |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,193,973 (GRCm39) |
I666V |
probably benign |
Het |
| Trav14-1 |
G |
T |
14: 53,792,009 (GRCm39) |
A120S |
probably damaging |
Het |
| Trps1 |
T |
A |
15: 50,753,007 (GRCm39) |
N20I |
probably benign |
Het |
| Txndc16 |
A |
G |
14: 45,378,028 (GRCm39) |
Y682H |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,837,261 (GRCm39) |
D991E |
probably damaging |
Het |
| Zswim4 |
C |
T |
8: 84,940,699 (GRCm39) |
R800Q |
probably damaging |
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 |
|
|
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 |
|
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'- ACATGAGTGCATACGTATGAGTGTATG -3'
(R):5'- TACCTGTCTGAATGCAGGAAC -3'
Sequencing Primer
(F):5'- GTGCATACGTATGAGTGTATGTATAG -3'
(R):5'- AGGAACTGTCTGCTCGTCTGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation