Incidental Mutation 'R8387:Hmmr'
ID |
647216 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hmmr
|
Ensembl Gene |
ENSMUSG00000020330 |
Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
Synonyms |
CD168, Rhamm |
MMRRC Submission |
067876-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8387 (G1)
|
Quality Score |
225.009 |
Status
|
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: 99.0%
|
Validation Efficiency |
98% (46/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
G |
A |
5: 8,874,698 (GRCm39) |
D453N |
probably damaging |
Het |
Arl14ep |
T |
C |
2: 106,799,562 (GRCm39) |
D93G |
probably damaging |
Het |
Bcl7b |
T |
C |
5: 135,197,413 (GRCm39) |
I18T |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,390,501 (GRCm39) |
I614V |
probably benign |
Het |
Cpa3 |
T |
C |
3: 20,281,400 (GRCm39) |
I169V |
probably benign |
Het |
Cpeb4 |
T |
C |
11: 31,858,877 (GRCm39) |
|
probably null |
Het |
Csmd1 |
G |
A |
8: 16,050,484 (GRCm39) |
H2251Y |
possibly damaging |
Het |
Dab2ip |
T |
A |
2: 35,609,870 (GRCm39) |
I695K |
probably damaging |
Het |
Dhtkd1 |
C |
A |
2: 5,934,479 (GRCm39) |
L230F |
possibly damaging |
Het |
Emc1 |
T |
C |
4: 139,088,600 (GRCm39) |
S353P |
probably benign |
Het |
Erc2 |
T |
A |
14: 27,375,253 (GRCm39) |
L157Q |
possibly damaging |
Het |
Flvcr1 |
A |
G |
1: 190,743,731 (GRCm39) |
|
probably null |
Het |
Fryl |
A |
C |
5: 73,293,663 (GRCm39) |
|
probably null |
Het |
Gnl2 |
T |
C |
4: 124,949,127 (GRCm39) |
*729Q |
probably null |
Het |
Gpr63 |
G |
A |
4: 25,008,301 (GRCm39) |
V342M |
possibly damaging |
Het |
Guf1 |
C |
T |
5: 69,723,810 (GRCm39) |
P463L |
probably damaging |
Het |
Ifngr2 |
T |
C |
16: 91,358,535 (GRCm39) |
L245P |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,564 (GRCm39) |
F1206L |
probably damaging |
Het |
Ktn1 |
T |
A |
14: 47,944,744 (GRCm39) |
|
probably null |
Het |
Lekr1 |
A |
G |
3: 65,591,520 (GRCm39) |
K86E |
possibly damaging |
Het |
Lrrc3 |
C |
T |
10: 77,737,346 (GRCm39) |
G30D |
possibly damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,344,897 (GRCm39) |
F765L |
probably damaging |
Het |
Myo6 |
A |
G |
9: 80,183,632 (GRCm39) |
T676A |
unknown |
Het |
Nr4a1 |
T |
C |
15: 101,171,053 (GRCm39) |
S510P |
probably damaging |
Het |
Or2o1 |
T |
C |
11: 49,051,497 (GRCm39) |
S219P |
probably damaging |
Het |
Or4c113 |
T |
C |
2: 88,885,646 (GRCm39) |
I41M |
probably benign |
Het |
Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
Or51e1 |
C |
T |
7: 102,359,402 (GRCm39) |
T312I |
probably benign |
Het |
Or5a1 |
A |
G |
19: 12,097,785 (GRCm39) |
L97P |
probably damaging |
Het |
Pdcd1 |
G |
A |
1: 93,969,193 (GRCm39) |
L42F |
probably damaging |
Het |
Pdzd7 |
T |
C |
19: 45,018,490 (GRCm39) |
D621G |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pias4 |
G |
A |
10: 80,990,342 (GRCm39) |
R398C |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,219,893 (GRCm39) |
|
probably null |
Het |
Prkag3 |
A |
G |
1: 74,784,854 (GRCm39) |
|
probably null |
Het |
Ptpn7 |
A |
G |
1: 135,061,606 (GRCm39) |
T23A |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,873,526 (GRCm39) |
D1069G |
probably damaging |
Het |
Ptprr |
A |
G |
10: 116,087,030 (GRCm39) |
Y503C |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,866,899 (GRCm39) |
D610G |
probably benign |
Het |
Smyd4 |
A |
G |
11: 75,292,984 (GRCm39) |
N638S |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,740,883 (GRCm39) |
F1200S |
probably damaging |
Het |
Tox3 |
A |
G |
8: 90,984,595 (GRCm39) |
S195P |
probably benign |
Het |
Trim44 |
T |
C |
2: 102,230,518 (GRCm39) |
E171G |
probably damaging |
Het |
Vars1 |
T |
A |
17: 35,229,490 (GRCm39) |
M369K |
probably damaging |
Het |
Vmn2r77 |
C |
A |
7: 86,450,947 (GRCm39) |
Q278K |
probably benign |
Het |
Zfp345 |
T |
C |
2: 150,314,740 (GRCm39) |
T266A |
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 |
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'- CAGAAAGCTGGGCTGTTTTC -3'
(R):5'- TAAGCCTGGAATTGATGAAACTCAG -3'
Sequencing Primer
(F):5'- CTGTTTTCAGTATAACGAAACGAGG -3'
(R):5'- AATAAGAGAGAGACAAAGATGAGGG -3'
|
Posted On |
2020-09-02 |