Incidental Mutation 'R8820:Hmmr'
| ID |
672995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmmr
|
| Ensembl Gene |
ENSMUSG00000020330 |
| Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
| Synonyms |
CD168, Rhamm |
| MMRRC Submission |
068653-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8820 (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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (58/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,547,576 (GRCm39) |
L266P |
probably damaging |
Het |
| Abcb1a |
A |
T |
5: 8,773,204 (GRCm39) |
T811S |
possibly damaging |
Het |
| Als2cl |
T |
C |
9: 110,714,855 (GRCm39) |
F125L |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,228,165 (GRCm39) |
I406V |
probably benign |
Het |
| Cdyl |
T |
C |
13: 36,042,174 (GRCm39) |
I404T |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,784,818 (GRCm39) |
V434M |
probably damaging |
Het |
| Clasrp |
C |
T |
7: 19,320,362 (GRCm39) |
R432H |
unknown |
Het |
| Clk2 |
T |
A |
3: 89,082,730 (GRCm39) |
M392K |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,267,439 (GRCm39) |
N1402K |
possibly damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,092,016 (GRCm39) |
H168R |
probably damaging |
Het |
| Dapl1 |
T |
C |
2: 59,335,056 (GRCm39) |
L70P |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,805,483 (GRCm39) |
K836* |
probably null |
Het |
| Dsel |
A |
G |
1: 111,787,994 (GRCm39) |
L847P |
probably benign |
Het |
| Fbxw17 |
A |
T |
13: 50,587,351 (GRCm39) |
K437M |
possibly damaging |
Het |
| Fktn |
T |
C |
4: 53,735,001 (GRCm39) |
V174A |
possibly damaging |
Het |
| Frem1 |
C |
A |
4: 82,821,754 (GRCm39) |
S2118I |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,213,247 (GRCm39) |
V110M |
unknown |
Het |
| Gabrb3 |
T |
C |
7: 57,442,329 (GRCm39) |
S212P |
probably damaging |
Het |
| Gimap9 |
A |
G |
6: 48,654,821 (GRCm39) |
D136G |
probably benign |
Het |
| Gldc |
C |
G |
19: 30,078,212 (GRCm39) |
M928I |
probably benign |
Het |
| Ift46 |
C |
T |
9: 44,701,819 (GRCm39) |
T283I |
probably damaging |
Het |
| Il36b |
C |
T |
2: 24,049,892 (GRCm39) |
Q168* |
probably null |
Het |
| Ldb2 |
G |
A |
5: 44,956,757 (GRCm39) |
Q27* |
probably null |
Het |
| Lmcd1 |
T |
A |
6: 112,306,770 (GRCm39) |
I314N |
probably damaging |
Het |
| Lypd9 |
T |
G |
11: 58,337,129 (GRCm39) |
S115R |
probably damaging |
Het |
| Mctp2 |
C |
A |
7: 71,879,081 (GRCm39) |
V259L |
probably benign |
Het |
| Midn |
T |
G |
10: 79,990,234 (GRCm39) |
S302A |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,106,291 (GRCm39) |
V797A |
|
Het |
| Npm2 |
A |
G |
14: 70,885,768 (GRCm39) |
S146P |
probably damaging |
Het |
| Npr1 |
G |
A |
3: 90,372,201 (GRCm39) |
R204C |
probably damaging |
Het |
| Or1j10 |
T |
C |
2: 36,267,006 (GRCm39) |
S73P |
probably damaging |
Het |
| Or1n1b |
C |
A |
2: 36,780,622 (GRCm39) |
M79I |
probably benign |
Het |
| Or52n3 |
T |
A |
7: 104,530,862 (GRCm39) |
V316D |
possibly damaging |
Het |
| Or6e1 |
C |
T |
14: 54,520,070 (GRCm39) |
G94D |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,515,639 (GRCm39) |
N290D |
probably benign |
Het |
| Paip2b |
A |
C |
6: 83,791,738 (GRCm39) |
M48R |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,606,971 (GRCm39) |
S68T |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 82,020,022 (GRCm39) |
H715Q |
|
Het |
| Pcsk2 |
T |
A |
2: 143,642,990 (GRCm39) |
H422Q |
probably damaging |
Het |
| Pdzph1 |
G |
C |
17: 59,187,715 (GRCm39) |
Y1168* |
probably null |
Het |
| Peli2 |
G |
A |
14: 48,490,130 (GRCm39) |
E201K |
possibly damaging |
Het |
| Prelp |
T |
C |
1: 133,842,878 (GRCm39) |
N89S |
probably damaging |
Het |
| Proz |
T |
A |
8: 13,113,253 (GRCm39) |
F25I |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,646,538 (GRCm39) |
N799S |
probably benign |
Het |
| Relch |
T |
A |
1: 105,654,179 (GRCm39) |
F873L |
possibly damaging |
Het |
| Ryr3 |
G |
A |
2: 112,466,137 (GRCm39) |
R4795W |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,690,069 (GRCm39) |
V1180A |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,645,586 (GRCm39) |
I123V |
probably benign |
Het |
| Sema4b |
G |
C |
7: 79,870,248 (GRCm39) |
E475D |
probably damaging |
Het |
| Serinc2 |
C |
A |
4: 130,149,172 (GRCm39) |
M343I |
probably damaging |
Het |
| Serinc5 |
G |
T |
13: 92,844,544 (GRCm39) |
V429F |
probably benign |
Het |
| Smyd2 |
T |
A |
1: 189,632,018 (GRCm39) |
K115N |
probably benign |
Het |
| Tenm3 |
T |
G |
8: 48,763,759 (GRCm39) |
D765A |
probably damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
T |
18: 44,967,531 (GRCm39) |
R176* |
probably null |
Het |
| Zfp27 |
T |
C |
7: 29,594,013 (GRCm39) |
K651E |
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 |
|
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 |
|
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'- AAGCCTGGAATTGATGAAACTCAG -3'
Sequencing Primer
(F):5'- CTGTTTTCAGTATAACGAAACGAGG -3'
(R):5'- AATAAGAGAGAGACAAAGATGAGGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation