Incidental Mutation 'R0590:Rusf1'
| ID |
55926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rusf1
|
| Ensembl Gene |
ENSMUSG00000030780 |
| Gene Name |
RUS family member 1 |
| Synonyms |
BC017158 |
| MMRRC Submission |
038780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R0590 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127870551-127897303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127896642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 134
(L134P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033044]
[ENSMUST00000126263]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033044
AA Change: L134P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780
AA Change: L134P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF647
|
62 |
301 |
5.6e-97 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126263
AA Change: L134P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780
AA Change: L134P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF647
|
61 |
304 |
3e-102 |
PFAM |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155177
|
| Meta Mutation Damage Score |
0.9217 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
C |
T |
4: 49,383,273 (GRCm39) |
M93I |
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,949,073 (GRCm39) |
D196G |
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,618,378 (GRCm39) |
|
probably null |
Het |
| AI661453 |
A |
G |
17: 47,777,999 (GRCm39) |
|
probably benign |
Het |
| Apc |
G |
T |
18: 34,449,283 (GRCm39) |
E2026* |
probably null |
Het |
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
C |
5: 31,219,575 (GRCm39) |
S688P |
probably damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,751,704 (GRCm39) |
R345* |
probably null |
Het |
| Dcaf13 |
T |
A |
15: 39,008,480 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,520,480 (GRCm39) |
D607G |
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,579,683 (GRCm39) |
R841G |
probably benign |
Het |
| Gli1 |
G |
T |
10: 127,167,432 (GRCm39) |
A607E |
possibly damaging |
Het |
| Gls |
G |
A |
1: 52,251,534 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,180,235 (GRCm39) |
Q728H |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,487 (GRCm39) |
L198P |
probably damaging |
Het |
| Ifngr1 |
T |
A |
10: 19,479,690 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,181,769 (GRCm39) |
V954A |
possibly damaging |
Het |
| Kcnh5 |
G |
T |
12: 75,012,035 (GRCm39) |
A628D |
probably damaging |
Het |
| Kif14 |
T |
C |
1: 136,410,210 (GRCm39) |
S646P |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,935,966 (GRCm39) |
S133P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,027,302 (GRCm39) |
M7143V |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 34,059,169 (GRCm39) |
P229S |
probably damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,413,119 (GRCm39) |
T169A |
probably damaging |
Het |
| Nr1h4 |
A |
G |
10: 89,292,429 (GRCm39) |
Y398H |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,610,815 (GRCm39) |
E511G |
probably damaging |
Het |
| Ocstamp |
T |
A |
2: 165,239,671 (GRCm39) |
R172W |
probably damaging |
Het |
| Or10ag60 |
A |
G |
2: 87,438,338 (GRCm39) |
E202G |
probably damaging |
Het |
| Or8d1 |
T |
A |
9: 38,766,766 (GRCm39) |
M136K |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,056,017 (GRCm39) |
V207A |
probably benign |
Het |
| Phf14 |
G |
A |
6: 11,961,577 (GRCm39) |
V405I |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,196,057 (GRCm39) |
R238H |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,465,792 (GRCm39) |
E1240G |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,598,961 (GRCm39) |
I899T |
possibly damaging |
Het |
| Psip1 |
T |
C |
4: 83,376,381 (GRCm39) |
N486S |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,028,030 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 88,997,759 (GRCm39) |
S255P |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,079,934 (GRCm39) |
K711E |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,021,237 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
T |
G |
18: 46,305,643 (GRCm39) |
S435R |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,018,232 (GRCm39) |
|
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,349 (GRCm39) |
V143A |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,763,131 (GRCm39) |
Q2166L |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,199 (GRCm39) |
T346M |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,467,693 (GRCm39) |
V2617D |
probably damaging |
Het |
|
| Other mutations in Rusf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02451:Rusf1
|
APN |
7 |
127,875,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02527:Rusf1
|
APN |
7 |
127,875,403 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02572:Rusf1
|
APN |
7 |
127,889,752 (GRCm39) |
splice site |
probably benign |
|
|
3-1:Rusf1
|
UTSW |
7 |
127,875,301 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
PIT4445001:Rusf1
|
UTSW |
7 |
127,875,706 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0364:Rusf1
|
UTSW |
7 |
127,889,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0616:Rusf1
|
UTSW |
7 |
127,871,803 (GRCm39) |
splice site |
probably null |
|
|
R2060:Rusf1
|
UTSW |
7 |
127,887,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3849:Rusf1
|
UTSW |
7 |
127,884,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4487:Rusf1
|
UTSW |
7 |
127,887,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Rusf1
|
UTSW |
7 |
127,875,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4511:Rusf1
|
UTSW |
7 |
127,875,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4708:Rusf1
|
UTSW |
7 |
127,873,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4793:Rusf1
|
UTSW |
7 |
127,887,374 (GRCm39) |
intron |
probably benign |
|
|
R4983:Rusf1
|
UTSW |
7 |
127,875,645 (GRCm39) |
unclassified |
probably benign |
|
|
R5502:Rusf1
|
UTSW |
7 |
127,884,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Rusf1
|
UTSW |
7 |
127,896,632 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6312:Rusf1
|
UTSW |
7 |
127,872,715 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7898:Rusf1
|
UTSW |
7 |
127,897,177 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8322:Rusf1
|
UTSW |
7 |
127,889,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8953:Rusf1
|
UTSW |
7 |
127,872,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9600:Rusf1
|
UTSW |
7 |
127,875,676 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACTGATGAGGGCATTCCAGC -3'
(R):5'- GTTTTCCAGGTCCCACAGAACCAG -3'
Sequencing Primer
(F):5'- TGGGCAAAGATTCACAGCTTC -3'
(R):5'- CCAGTGAGAGCTGGTATAGCAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation