Incidental Mutation 'R5795:Hmmr'
| ID |
447188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmmr
|
| Ensembl Gene |
ENSMUSG00000020330 |
| Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
| Synonyms |
CD168, Rhamm |
| MMRRC Submission |
043386-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5795 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
40592222-40624249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40612733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 158
(D158V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020579]
|
| AlphaFold |
Q00547 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020579
AA Change: D158V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330
AA Change: D158V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127705
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156399
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
G |
9: 104,186,688 (GRCm39) |
V261A |
probably benign |
Het |
| Adipor1 |
C |
A |
1: 134,352,641 (GRCm39) |
N137K |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,989,746 (GRCm39) |
K3677* |
probably null |
Het |
| Ankrd24 |
C |
A |
10: 81,480,937 (GRCm39) |
|
probably benign |
Het |
| Appl1 |
G |
T |
14: 26,664,773 (GRCm39) |
P420Q |
probably benign |
Het |
| Bmp8b |
C |
A |
4: 123,015,761 (GRCm39) |
F249L |
possibly damaging |
Het |
| Brat1 |
G |
T |
5: 140,698,827 (GRCm39) |
A275S |
probably benign |
Het |
| C5ar1 |
T |
C |
7: 15,982,319 (GRCm39) |
K234E |
possibly damaging |
Het |
| Cblif |
A |
G |
19: 11,737,740 (GRCm39) |
T384A |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,883,367 (GRCm39) |
|
probably null |
Het |
| Chmp5 |
T |
G |
4: 40,950,562 (GRCm39) |
|
probably null |
Het |
| Chrna3 |
T |
A |
9: 54,922,552 (GRCm39) |
T419S |
probably benign |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
| Csf3 |
G |
T |
11: 98,592,853 (GRCm39) |
C72F |
probably damaging |
Het |
| Dbndd1 |
A |
G |
8: 124,236,619 (GRCm39) |
I83T |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,309 (GRCm39) |
K287E |
probably damaging |
Het |
| F5 |
C |
T |
1: 163,979,578 (GRCm39) |
T16I |
probably benign |
Het |
| Hephl1 |
C |
T |
9: 14,981,056 (GRCm39) |
G792E |
probably damaging |
Het |
| Hsd11b1 |
A |
G |
1: 192,922,940 (GRCm39) |
S76P |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,978 (GRCm39) |
S167P |
probably benign |
Het |
| Irf7 |
G |
A |
7: 140,845,029 (GRCm39) |
P118L |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,103,722 (GRCm39) |
N1981S |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,304,816 (GRCm39) |
D224G |
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,498,616 (GRCm39) |
Y594H |
possibly damaging |
Het |
| Minpp1 |
G |
A |
19: 32,491,557 (GRCm39) |
V412M |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,425,478 (GRCm39) |
V4708M |
possibly damaging |
Het |
| Mycl |
G |
A |
4: 122,890,415 (GRCm39) |
E34K |
probably damaging |
Het |
| Oaf |
T |
A |
9: 43,135,241 (GRCm39) |
D179V |
probably damaging |
Het |
| Ogfod2 |
G |
A |
5: 124,252,824 (GRCm39) |
G278D |
probably damaging |
Het |
| Or2h1 |
A |
G |
17: 37,404,661 (GRCm39) |
L35P |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,188 (GRCm39) |
F162L |
possibly damaging |
Het |
| Paf1 |
T |
G |
7: 28,096,043 (GRCm39) |
M250R |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,008,420 (GRCm39) |
T48A |
possibly damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,192,862 (GRCm39) |
V1096A |
possibly damaging |
Het |
| Polr3b |
T |
C |
10: 84,512,875 (GRCm39) |
S586P |
probably damaging |
Het |
| Polr3b |
A |
T |
10: 84,464,116 (GRCm39) |
E25D |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,348,475 (GRCm39) |
M274T |
possibly damaging |
Het |
| Slc31a2 |
T |
C |
4: 62,215,289 (GRCm39) |
V112A |
probably damaging |
Het |
| Spire1 |
A |
T |
18: 67,628,265 (GRCm39) |
S412T |
probably benign |
Het |
| Tanc1 |
A |
G |
2: 59,637,926 (GRCm39) |
T876A |
possibly damaging |
Het |
| Tango6 |
T |
A |
8: 107,444,709 (GRCm39) |
L538H |
probably damaging |
Het |
| Tas2r125 |
G |
A |
6: 132,886,621 (GRCm39) |
G3D |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,091,158 (GRCm39) |
M125K |
possibly damaging |
Het |
| Traf5 |
T |
C |
1: 191,731,807 (GRCm39) |
S345G |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,175,594 (GRCm39) |
I1231F |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,250,544 (GRCm39) |
S576P |
possibly damaging |
Het |
| Vmn2r104 |
G |
T |
17: 20,250,372 (GRCm39) |
T633N |
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,448,998 (GRCm39) |
C60S |
probably benign |
Het |
| Zfp316 |
A |
T |
5: 143,248,594 (GRCm39) |
D217E |
unknown |
Het |
| Zfp456 |
A |
T |
13: 67,515,039 (GRCm39) |
D222E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGACCATCATACTCTGCACAAC -3'
(R):5'- TGACAGGCACAGTACTCAGTC -3'
Sequencing Primer
(F):5'- GCACAACACAGAGAACTATTTTAGG -3'
(R):5'- AGGCACAGTACTCAGTCATGTGTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation