Incidental Mutation 'R8304:Hmmr'
| ID |
639396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmmr
|
| Ensembl Gene |
ENSMUSG00000020330 |
| Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
| Synonyms |
CD168, Rhamm |
| MMRRC Submission |
067791-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8304 (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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (58/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,997,954 (GRCm39) |
|
probably null |
Het |
| Akap11 |
T |
C |
14: 78,750,672 (GRCm39) |
T572A |
|
Het |
| Amigo2 |
A |
T |
15: 97,144,038 (GRCm39) |
L128Q |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,542 (GRCm39) |
I1297T |
possibly damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,167,233 (GRCm39) |
C623* |
probably null |
Het |
| Armc2 |
T |
C |
10: 41,823,935 (GRCm39) |
Y511C |
probably damaging |
Het |
| Asb15 |
C |
T |
6: 24,559,296 (GRCm39) |
P147L |
possibly damaging |
Het |
| Caprin1 |
G |
T |
2: 103,599,862 (GRCm39) |
N604K |
probably damaging |
Het |
| Ccnl2 |
T |
C |
4: 155,897,679 (GRCm39) |
F113L |
probably benign |
Het |
| Cltc |
C |
T |
11: 86,616,087 (GRCm39) |
R393H |
probably benign |
Het |
| Cul4a |
G |
A |
8: 13,177,727 (GRCm39) |
C289Y |
possibly damaging |
Het |
| Cyp4a29 |
T |
A |
4: 115,111,653 (GRCm39) |
F477I |
probably damaging |
Het |
| Dapk2 |
C |
T |
9: 66,139,027 (GRCm39) |
A116V |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,451,803 (GRCm39) |
I1231T |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,084,774 (GRCm39) |
I874V |
probably benign |
Het |
| Eral1 |
A |
T |
11: 77,966,828 (GRCm39) |
S196T |
probably damaging |
Het |
| Erc2 |
T |
G |
14: 27,375,122 (GRCm39) |
D113E |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,274,066 (GRCm39) |
I1103V |
possibly damaging |
Het |
| Galm |
A |
G |
17: 80,490,766 (GRCm39) |
T308A |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,950 (GRCm39) |
N2650K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,809,186 (GRCm39) |
D2562G |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,607,695 (GRCm39) |
L67* |
probably null |
Het |
| Irx3 |
T |
A |
8: 92,526,834 (GRCm39) |
D290V |
probably damaging |
Het |
| Kcns1 |
A |
T |
2: 164,010,022 (GRCm39) |
Y246N |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,127 (GRCm39) |
T1557A |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,069,929 (GRCm39) |
N29S |
possibly damaging |
Het |
| Mmp24 |
T |
C |
2: 155,641,759 (GRCm39) |
F196L |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,955,119 (GRCm39) |
V704A |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,958,803 (GRCm39) |
M112V |
probably benign |
Het |
| Myh8 |
C |
A |
11: 67,195,162 (GRCm39) |
H1659N |
possibly damaging |
Het |
| Nlgn1 |
C |
T |
3: 26,187,534 (GRCm39) |
C117Y |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,416,489 (GRCm39) |
T237M |
possibly damaging |
Het |
| Or2r2 |
C |
T |
6: 42,463,672 (GRCm39) |
V152I |
probably benign |
Het |
| Or51f5 |
A |
G |
7: 102,423,917 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Or5v1 |
A |
T |
17: 37,810,261 (GRCm39) |
T240S |
probably damaging |
Het |
| Or8b57 |
A |
T |
9: 40,003,650 (GRCm39) |
I204N |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,104,402 (GRCm39) |
T641M |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,940,203 (GRCm39) |
H537R |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,824,101 (GRCm39) |
L174Q |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 30,701,584 (GRCm39) |
V326A |
possibly damaging |
Het |
| Psmb3 |
T |
A |
11: 97,601,995 (GRCm39) |
C122S |
probably benign |
Het |
| Sh3bgrl3 |
C |
A |
4: 133,855,312 (GRCm39) |
A45S |
probably benign |
Het |
| Slc25a47 |
T |
C |
12: 108,821,868 (GRCm39) |
V219A |
possibly damaging |
Het |
| Slfn9 |
A |
C |
11: 82,873,605 (GRCm39) |
S433A |
probably benign |
Het |
| Spata13 |
A |
T |
14: 60,993,957 (GRCm39) |
R1136S |
possibly damaging |
Het |
| Stab1 |
C |
A |
14: 30,870,911 (GRCm39) |
A1313S |
probably benign |
Het |
| Stim1 |
G |
A |
7: 102,084,688 (GRCm39) |
A547T |
possibly damaging |
Het |
| Taf5l |
A |
T |
8: 124,730,251 (GRCm39) |
I146N |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,825,824 (GRCm39) |
E225V |
possibly damaging |
Het |
| Tesc |
T |
C |
5: 118,194,495 (GRCm39) |
Y135H |
probably benign |
Het |
| Tfg |
T |
C |
16: 56,521,581 (GRCm39) |
E145G |
possibly damaging |
Het |
| Tg |
T |
A |
15: 66,565,109 (GRCm39) |
C1150* |
probably null |
Het |
| Tmtc1 |
T |
C |
6: 148,172,883 (GRCm39) |
N616S |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,639,797 (GRCm39) |
W1600R |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,199,526 (GRCm39) |
|
probably benign |
Het |
| Zfand1 |
A |
T |
3: 10,413,615 (GRCm39) |
L24* |
probably null |
Het |
| Zfp282 |
AGCGGCGGCGGCGGCGGC |
AGCGGCGGCGGCGGC |
6: 47,881,722 (GRCm39) |
|
probably benign |
Het |
| Zfp770 |
A |
C |
2: 114,027,891 (GRCm39) |
F59L |
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 |
|
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'- TCAGAAAGCTGGGCTGTTTTC -3'
(R):5'- GCCTGGAATTGATGAAACTCAG -3'
Sequencing Primer
(F):5'- CTGTTTTCAGTATAACGAAACGAGG -3'
(R):5'- AATAAGAGAGAGACAAAGATGAGGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation