Incidental Mutation 'R8308:Hmmr'
| ID |
641201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmmr
|
| Ensembl Gene |
ENSMUSG00000020330 |
| Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
| Synonyms |
CD168, Rhamm |
| MMRRC Submission |
067793-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8308 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
G |
3: 59,659,570 (GRCm39) |
D341G |
probably damaging |
Het |
| Abca17 |
T |
C |
17: 24,486,657 (GRCm39) |
T1457A |
probably damaging |
Het |
| Acot8 |
A |
T |
2: 164,646,663 (GRCm39) |
S25R |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,210,212 (GRCm39) |
V850A |
probably benign |
Het |
| Baiap2l1 |
T |
A |
5: 144,214,487 (GRCm39) |
E402D |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,943,815 (GRCm39) |
K2689E |
probably damaging |
Het |
| Cdh22 |
C |
A |
2: 164,954,098 (GRCm39) |
D808Y |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cipc |
A |
G |
12: 87,008,809 (GRCm39) |
T223A |
probably benign |
Het |
| Crem |
G |
T |
18: 3,295,397 (GRCm39) |
T57K |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,656,516 (GRCm39) |
I393F |
probably benign |
Het |
| Dgcr2 |
C |
T |
16: 17,676,242 (GRCm39) |
G176D |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,790,371 (GRCm39) |
V1451L |
probably benign |
Het |
| Dsg2 |
C |
T |
18: 20,708,121 (GRCm39) |
P74L |
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,664,075 (GRCm39) |
V224A |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,190,586 (GRCm39) |
S152C |
unknown |
Het |
| Gcsam |
A |
T |
16: 45,430,902 (GRCm39) |
N3I |
probably damaging |
Het |
| Gm10188 |
C |
T |
1: 132,157,310 (GRCm39) |
V19I |
unknown |
Het |
| Gpr27 |
T |
C |
6: 99,670,217 (GRCm39) |
L193P |
probably damaging |
Het |
| Grin2b |
A |
T |
6: 135,900,074 (GRCm39) |
V269E |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,443,651 (GRCm39) |
I1275V |
possibly damaging |
Het |
| Krt27 |
T |
C |
11: 99,239,862 (GRCm39) |
E234G |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,139,807 (GRCm39) |
|
probably null |
Het |
| Matk |
T |
G |
10: 81,094,121 (GRCm39) |
S18A |
probably benign |
Het |
| Mbd3l1 |
A |
G |
9: 18,395,886 (GRCm39) |
T4A |
probably benign |
Het |
| Mettl23 |
G |
A |
11: 116,739,185 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
A |
T |
9: 49,479,817 (GRCm39) |
W54R |
probably damaging |
Het |
| Olfm5 |
A |
G |
7: 103,803,606 (GRCm39) |
Y286H |
probably damaging |
Het |
| Or10d5j |
T |
A |
9: 39,868,265 (GRCm39) |
M1L |
probably benign |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or4q3 |
T |
C |
14: 50,582,922 (GRCm39) |
I326V |
probably benign |
Het |
| Or5ac15 |
C |
T |
16: 58,939,899 (GRCm39) |
C178Y |
probably damaging |
Het |
| Pmch |
A |
G |
10: 87,927,614 (GRCm39) |
Y105C |
probably damaging |
Het |
| Prg3 |
A |
G |
2: 84,819,676 (GRCm39) |
T57A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,688,838 (GRCm39) |
E877G |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,769,566 (GRCm39) |
V433A |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,297,233 (GRCm39) |
D406E |
probably benign |
Het |
| Scara5 |
C |
T |
14: 65,927,234 (GRCm39) |
R44W |
probably damaging |
Het |
| Scg2 |
T |
G |
1: 79,414,576 (GRCm39) |
K49T |
probably benign |
Het |
| Slc40a1 |
A |
G |
1: 45,950,180 (GRCm39) |
I424T |
probably benign |
Het |
| Slc4a8 |
T |
A |
15: 100,693,735 (GRCm39) |
S479T |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,929,456 (GRCm39) |
D1139G |
probably damaging |
Het |
| Srcap |
A |
G |
7: 127,152,353 (GRCm39) |
I2206V |
possibly damaging |
Het |
| Tpk1 |
T |
C |
6: 43,642,711 (GRCm39) |
E9G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,642,645 (GRCm39) |
V13297I |
possibly damaging |
Het |
| Uchl3 |
T |
C |
14: 101,932,655 (GRCm39) |
|
probably null |
Het |
| Usp12 |
T |
C |
5: 146,688,751 (GRCm39) |
D201G |
probably damaging |
Het |
| Vmn1r193 |
C |
T |
13: 22,403,146 (GRCm39) |
R282H |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,261,040 (GRCm39) |
D461G |
possibly damaging |
Het |
| Zfp131 |
A |
G |
13: 120,244,440 (GRCm39) |
M80T |
possibly damaging |
Het |
| Zfp457 |
A |
G |
13: 67,441,663 (GRCm39) |
L304P |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,663,566 (GRCm39) |
E682G |
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 |
|
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'- CTCAGAAAGCTGGGCTGTTTTC -3'
(R):5'- GCCTGGAATTGATGAAACTCAG -3'
Sequencing Primer
(F):5'- CTGTTTTCAGTATAACGAAACGAGG -3'
(R):5'- AATAAGAGAGAGACAAAGATGAGGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation