Incidental Mutation 'R0747:Hmmr'
| ID |
70193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmmr
|
| Ensembl Gene |
ENSMUSG00000020330 |
| Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
| Synonyms |
CD168, Rhamm |
| MMRRC Submission |
038928-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0747 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
40592222-40624249 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 40612572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020579]
|
| AlphaFold |
Q00547 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020579
|
| SMART Domains |
Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
A |
T |
11: 46,009,322 (GRCm39) |
|
probably null |
Het |
| Anks4b |
C |
T |
7: 119,781,386 (GRCm39) |
A139V |
probably damaging |
Het |
| Arf1 |
G |
A |
11: 59,103,461 (GRCm39) |
R149C |
probably benign |
Het |
| Axl |
A |
T |
7: 25,463,484 (GRCm39) |
C598S |
possibly damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,316 (GRCm39) |
I291V |
possibly damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,781,156 (GRCm39) |
H883L |
probably benign |
Het |
| Cep15 |
T |
A |
14: 12,287,287 (GRCm38) |
M16K |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,730,375 (GRCm39) |
S1644P |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,797,564 (GRCm39) |
S1343P |
probably damaging |
Het |
| D430041D05Rik |
G |
T |
2: 104,060,651 (GRCm39) |
H1414Q |
probably damaging |
Het |
| Dnah5 |
C |
G |
15: 28,444,332 (GRCm39) |
I4043M |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,444,333 (GRCm39) |
C4044S |
possibly damaging |
Het |
| Dpep3 |
C |
T |
8: 106,704,018 (GRCm39) |
A267T |
probably benign |
Het |
| Dync1h1 |
A |
C |
12: 110,578,845 (GRCm39) |
H106P |
probably benign |
Het |
| Dync1h1 |
A |
C |
12: 110,595,718 (GRCm39) |
E1466A |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,700,337 (GRCm39) |
|
probably benign |
Het |
| Frmd6 |
A |
G |
12: 70,910,830 (GRCm39) |
T5A |
probably benign |
Het |
| Gnb5 |
G |
A |
9: 75,218,752 (GRCm39) |
V26I |
probably benign |
Het |
| Hephl1 |
A |
T |
9: 14,965,297 (GRCm39) |
|
probably benign |
Het |
| Hpn |
A |
T |
7: 30,798,971 (GRCm39) |
F356Y |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,014,810 (GRCm39) |
|
probably benign |
Het |
| Ism2 |
A |
G |
12: 87,332,172 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
T |
A |
11: 104,233,802 (GRCm39) |
M754L |
probably benign |
Het |
| Kcnc4 |
A |
T |
3: 107,355,470 (GRCm39) |
I326N |
probably damaging |
Het |
| Lcn6 |
G |
A |
2: 25,567,184 (GRCm39) |
V62M |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,760,353 (GRCm39) |
C2858S |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,745,638 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
T |
A |
3: 104,709,812 (GRCm39) |
H358L |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,362,152 (GRCm39) |
V60A |
unknown |
Het |
| Or2t6 |
C |
T |
14: 14,175,429 (GRCm38) |
A218T |
probably benign |
Het |
| Pgap2 |
C |
A |
7: 101,886,343 (GRCm39) |
Y176* |
probably null |
Het |
| Pglyrp1 |
A |
G |
7: 18,624,200 (GRCm39) |
Q161R |
possibly damaging |
Het |
| Plod3 |
A |
G |
5: 137,017,049 (GRCm39) |
N66S |
probably benign |
Het |
| Psmc3 |
A |
G |
2: 90,884,645 (GRCm39) |
E18G |
probably benign |
Het |
| Psme3 |
T |
G |
11: 101,207,872 (GRCm39) |
M9R |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,053,417 (GRCm39) |
N428S |
possibly damaging |
Het |
| Rbp3 |
A |
G |
14: 33,678,235 (GRCm39) |
I728V |
possibly damaging |
Het |
| Sall4 |
A |
T |
2: 168,596,886 (GRCm39) |
H651Q |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,111,102 (GRCm39) |
Y76N |
probably damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,255,263 (GRCm39) |
T342A |
probably damaging |
Het |
| Slc25a1 |
G |
T |
16: 17,744,084 (GRCm39) |
T239K |
probably damaging |
Het |
| Slc36a2 |
T |
A |
11: 55,060,685 (GRCm39) |
I242F |
probably benign |
Het |
| Tekt2 |
G |
A |
4: 126,217,553 (GRCm39) |
Q171* |
probably null |
Het |
| Tet2 |
T |
G |
3: 133,173,231 (GRCm39) |
H1677P |
possibly damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trcg1 |
C |
T |
9: 57,149,204 (GRCm39) |
P259S |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,540,942 (GRCm39) |
S25688A |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,694,477 (GRCm39) |
R457* |
probably null |
Het |
| Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCATTGTCACAGTCAGAAATCCTTT -3'
(R):5'- GCACAGTACTCAGTCATGTGTCTGC -3'
Sequencing Primer
(F):5'- ACAGTCAGAAATCCTTTCCTTTGTG -3'
(R):5'- actaaaggggaacacaagcac -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation