Incidental Mutation 'R7965:Hmmr'
| ID |
656392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmmr
|
| Ensembl Gene |
ENSMUSG00000020330 |
| Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
| Synonyms |
CD168, Rhamm |
| MMRRC Submission |
046008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
40592222-40624249 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 40606256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020579]
[ENSMUST00000020579]
|
| AlphaFold |
Q00547 |
| Predicted Effect |
probably null
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 |
probably null
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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| 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 |
|---|
| Ankhd1 |
A |
G |
18: 36,791,465 (GRCm39) |
T154A |
|
Het |
| Arhgap21 |
A |
G |
2: 20,854,007 (GRCm39) |
I1795T |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,850,762 (GRCm39) |
V436A |
probably benign |
Het |
| Bche |
A |
T |
3: 73,609,149 (GRCm39) |
N92K |
probably damaging |
Het |
| Bmp2 |
C |
T |
2: 133,403,105 (GRCm39) |
H219Y |
probably benign |
Het |
| Cables1 |
T |
G |
18: 11,973,269 (GRCm39) |
V136G |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,769,270 (GRCm39) |
R1887* |
probably null |
Het |
| Chrd |
A |
G |
16: 20,557,903 (GRCm39) |
E774G |
probably benign |
Het |
| Chrna2 |
A |
G |
14: 66,388,525 (GRCm39) |
*513W |
probably null |
Het |
| Cracr2b |
T |
C |
7: 141,044,161 (GRCm39) |
F131S |
probably damaging |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,546,523 (GRCm39) |
I545N |
possibly damaging |
Het |
| Enpp3 |
T |
A |
10: 24,654,717 (GRCm39) |
T654S |
possibly damaging |
Het |
| Glce |
A |
G |
9: 61,968,228 (GRCm39) |
S308P |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hoxb9 |
A |
G |
11: 96,165,464 (GRCm39) |
N178D |
probably benign |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,595 (GRCm39) |
F82I |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,702,578 (GRCm39) |
K99* |
probably null |
Het |
| Il4i1 |
A |
G |
7: 44,489,819 (GRCm39) |
Q528R |
probably benign |
Het |
| Inhba |
G |
T |
13: 16,201,572 (GRCm39) |
G378V |
possibly damaging |
Het |
| Katna1 |
T |
C |
10: 7,614,623 (GRCm39) |
S44P |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Mgat4d |
T |
C |
8: 84,084,722 (GRCm39) |
V155A |
possibly damaging |
Het |
| Morc2b |
C |
T |
17: 33,354,746 (GRCm39) |
E1009K |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,695,721 (GRCm39) |
L341H |
probably damaging |
Het |
| Nell2 |
C |
T |
15: 95,129,216 (GRCm39) |
D716N |
probably damaging |
Het |
| Or1n2 |
A |
G |
2: 36,796,953 (GRCm39) |
|
probably benign |
Het |
| Or5t16 |
A |
G |
2: 86,818,707 (GRCm39) |
V271A |
probably benign |
Het |
| Or8g36 |
C |
T |
9: 39,422,810 (GRCm39) |
V69I |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,338,815 (GRCm39) |
H4R |
probably benign |
Het |
| Ppp1r37 |
T |
C |
7: 19,265,868 (GRCm39) |
T633A |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,258,302 (GRCm39) |
K576E |
probably damaging |
Het |
| Prl2c5 |
G |
T |
13: 13,360,469 (GRCm39) |
M45I |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,223,824 (GRCm39) |
G397* |
probably null |
Het |
| Rnf44 |
A |
G |
13: 54,830,667 (GRCm39) |
S247P |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,336,555 (GRCm39) |
F684L |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,502,648 (GRCm39) |
M286K |
probably benign |
Het |
| Slc39a9 |
G |
A |
12: 80,713,450 (GRCm39) |
G116D |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,762,621 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tmem161a |
C |
T |
8: 70,630,154 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,853,474 (GRCm39) |
H1831Q |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,667,614 (GRCm39) |
H792Q |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,720,542 (GRCm39) |
Q936R |
possibly damaging |
Het |
| Usp53 |
A |
T |
3: 122,756,531 (GRCm39) |
|
probably null |
Het |
| Vmn1r236 |
T |
A |
17: 21,507,696 (GRCm39) |
C271* |
probably null |
Het |
| Vmn2r70 |
T |
A |
7: 85,211,071 (GRCm39) |
M547L |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,332,800 (GRCm39) |
T254M |
probably damaging |
Het |
| Zc3h4 |
T |
C |
7: 16,163,770 (GRCm39) |
F655S |
unknown |
Het |
| Zfp605 |
G |
A |
5: 110,275,316 (GRCm39) |
G145S |
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 |
|
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'- TAGCTGGCATTTAACAGTCAGG -3'
(R):5'- GACCTCTAGTGTTACCTTACATGAC -3'
Sequencing Primer
(F):5'- GGCATTTAACAGTCAGGTCTTC -3'
(R):5'- ACTGCATACATGTGGTGCAC -3'
|
| Posted On |
2020-11-02 |
Incidental Mutation