Incidental Mutation 'IGL02870:Hmmr'
| ID |
362518 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hmmr
|
| Ensembl Gene |
ENSMUSG00000020330 |
| Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
| Synonyms |
CD168, Rhamm |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
40592222-40624249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 40604902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 390
(Q390K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020579]
|
| AlphaFold |
Q00547 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020579
AA Change: Q390K
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330
AA Change: Q390K
| 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 |
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,711,851 (GRCm39) |
V1042M |
probably benign |
Het |
| Agmat |
C |
A |
4: 141,474,253 (GRCm39) |
H45N |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,258,936 (GRCm39) |
V520D |
probably damaging |
Het |
| Ccser1 |
T |
A |
6: 61,288,276 (GRCm39) |
N146K |
probably damaging |
Het |
| Cdhr4 |
T |
A |
9: 107,875,263 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
| Cyp3a59 |
T |
C |
5: 146,034,994 (GRCm39) |
I224T |
probably benign |
Het |
| Ddx19a |
G |
T |
8: 111,710,258 (GRCm39) |
P114Q |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,753,452 (GRCm39) |
V275A |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,881,026 (GRCm39) |
S627P |
probably damaging |
Het |
| Flywch1 |
C |
T |
17: 23,974,876 (GRCm39) |
G541D |
probably damaging |
Het |
| Grk2 |
T |
C |
19: 4,340,430 (GRCm39) |
D317G |
probably damaging |
Het |
| H2-M5 |
T |
C |
17: 37,299,925 (GRCm39) |
E83G |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,154,037 (GRCm39) |
F658L |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,461,416 (GRCm39) |
T2548S |
probably benign |
Het |
| Or1j13 |
G |
A |
2: 36,370,043 (GRCm39) |
A33V |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,104,768 (GRCm39) |
R684W |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,493,722 (GRCm39) |
V315M |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,836,673 (GRCm39) |
K115* |
probably null |
Het |
| Plcxd1 |
A |
G |
5: 110,249,271 (GRCm39) |
T33A |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,193,262 (GRCm39) |
S931P |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,584,007 (GRCm39) |
Y500H |
probably damaging |
Het |
| Rfx8 |
C |
T |
1: 39,722,871 (GRCm39) |
V249I |
possibly damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,889,867 (GRCm39) |
I599L |
unknown |
Het |
| Sardh |
A |
T |
2: 27,125,503 (GRCm39) |
I337N |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,378,017 (GRCm39) |
M237L |
probably damaging |
Het |
| Slc35f1 |
A |
G |
10: 52,809,303 (GRCm39) |
S97G |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,861,354 (GRCm39) |
D2520G |
probably benign |
Het |
| Tnfrsf11b |
C |
T |
15: 54,119,423 (GRCm39) |
V184M |
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,763,117 (GRCm39) |
V764E |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,655,057 (GRCm39) |
A430E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,949 (GRCm39) |
R23315G |
probably damaging |
Het |
| Txnrd1 |
A |
G |
10: 82,731,813 (GRCm39) |
I478M |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,410,555 (GRCm39) |
V2401A |
probably benign |
Het |
| Vill |
T |
C |
9: 118,890,967 (GRCm39) |
L191P |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,355 (GRCm39) |
V159A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,421,740 (GRCm39) |
N939K |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,003,337 (GRCm39) |
V2926A |
probably damaging |
Het |
| Wdr7 |
T |
C |
18: 63,924,914 (GRCm39) |
S966P |
probably benign |
Het |
| Zfp12 |
C |
A |
5: 143,231,086 (GRCm39) |
T471N |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation