Incidental Mutation 'R8307:Hmmr'
| ID |
641146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmmr
|
| Ensembl Gene |
ENSMUSG00000020330 |
| Gene Name |
hyaluronan mediated motility receptor (RHAMM) |
| Synonyms |
CD168, Rhamm |
| MMRRC Submission |
067717-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8307 (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: 99.1%
|
| Validation Efficiency |
100% (56/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
C |
A |
4: 148,025,837 (GRCm39) |
T119K |
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,227,922 (GRCm39) |
L655* |
probably null |
Het |
| Aifm2 |
A |
G |
10: 61,562,171 (GRCm39) |
Y69C |
probably damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,320,030 (GRCm39) |
V448I |
probably benign |
Het |
| Barx2 |
A |
G |
9: 31,770,307 (GRCm39) |
S74P |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,978,498 (GRCm39) |
K939E |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,358,949 (GRCm39) |
F124L |
probably benign |
Het |
| Cdh12 |
T |
A |
15: 21,358,950 (GRCm39) |
Y125N |
probably damaging |
Het |
| Cdx2 |
A |
G |
5: 147,243,477 (GRCm39) |
Y106H |
possibly damaging |
Het |
| Chmp1a |
C |
T |
8: 123,932,980 (GRCm39) |
G158S |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,079,702 (GRCm39) |
Y1277F |
possibly damaging |
Het |
| Csde1 |
A |
G |
3: 102,946,389 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,744,109 (GRCm39) |
D1317A |
probably benign |
Het |
| Dgcr2 |
C |
T |
16: 17,676,242 (GRCm39) |
G176D |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,260,362 (GRCm39) |
M993K |
possibly damaging |
Het |
| Dpy19l1 |
G |
A |
9: 24,414,297 (GRCm39) |
P44S |
probably benign |
Het |
| Dsg2 |
C |
T |
18: 20,708,121 (GRCm39) |
P74L |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,065,894 (GRCm39) |
F2078Y |
probably damaging |
Het |
| Fancl |
A |
G |
11: 26,349,642 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,347,402 (GRCm39) |
R41L |
possibly damaging |
Het |
| Gemin5 |
G |
A |
11: 58,042,420 (GRCm39) |
T467M |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,330,707 (GRCm39) |
Q102R |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,286,127 (GRCm39) |
D2093G |
probably damaging |
Het |
| Igkv1-131 |
A |
G |
6: 67,743,051 (GRCm39) |
Y111H |
probably damaging |
Het |
| Il6st |
G |
T |
13: 112,624,281 (GRCm39) |
G177V |
probably benign |
Het |
| Kank4 |
G |
A |
4: 98,666,915 (GRCm39) |
Q511* |
probably null |
Het |
| Krt90 |
A |
G |
15: 101,467,634 (GRCm39) |
L248P |
probably damaging |
Het |
| Krtap5-2 |
A |
G |
7: 141,728,586 (GRCm39) |
C187R |
unknown |
Het |
| Lonp1 |
C |
A |
17: 56,933,573 (GRCm39) |
A101S |
probably benign |
Het |
| Nckap5l |
A |
G |
15: 99,321,058 (GRCm39) |
C1241R |
probably damaging |
Het |
| Or1j11 |
A |
G |
2: 36,312,333 (GRCm39) |
T308A |
probably benign |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or6c203 |
T |
C |
10: 129,010,101 (GRCm39) |
D263G |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,342,307 (GRCm39) |
C1131* |
probably null |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,847 (GRCm39) |
D416G |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,284,894 (GRCm39) |
M786T |
possibly damaging |
Het |
| Pink1 |
A |
T |
4: 138,045,273 (GRCm39) |
M297K |
probably benign |
Het |
| Pln |
T |
C |
10: 53,219,975 (GRCm39) |
Y6H |
unknown |
Het |
| Ppp2r2c |
A |
G |
5: 37,104,430 (GRCm39) |
D270G |
probably damaging |
Het |
| Pramel58 |
T |
G |
5: 94,831,416 (GRCm39) |
L141R |
probably damaging |
Het |
| Prcd |
A |
T |
11: 116,550,199 (GRCm39) |
T76S |
possibly damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,721,137 (GRCm39) |
|
probably null |
Het |
| Rab11fip4 |
A |
T |
11: 79,581,600 (GRCm39) |
N532Y |
possibly damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,788,308 (GRCm39) |
V592L |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,753,498 (GRCm39) |
D793G |
probably damaging |
Het |
| Sec14l1 |
G |
A |
11: 117,034,242 (GRCm39) |
|
probably null |
Het |
| Srcap |
T |
A |
7: 127,124,541 (GRCm39) |
V237E |
probably damaging |
Het |
| Srl |
A |
G |
16: 4,315,009 (GRCm39) |
I211T |
probably benign |
Het |
| Tasor |
G |
T |
14: 27,193,622 (GRCm39) |
A941S |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,356,909 (GRCm39) |
V883A |
probably damaging |
Het |
| Trim46 |
A |
G |
3: 89,151,223 (GRCm39) |
Y113H |
probably benign |
Het |
| Trim58 |
G |
A |
11: 58,537,909 (GRCm39) |
A267T |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,086 (GRCm39) |
G140S |
|
Het |
| Vmn2r110 |
C |
A |
17: 20,803,319 (GRCm39) |
V419L |
probably benign |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,270 (GRCm39) |
F249L |
probably benign |
Het |
| Vps8 |
A |
C |
16: 21,314,652 (GRCm39) |
D584A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,063 (GRCm39) |
C394S |
probably damaging |
Het |
| Zscan4e |
A |
G |
7: 11,041,059 (GRCm39) |
I271T |
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 |
|
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