Incidental Mutation 'R4487:Rusf1'
| ID |
331658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rusf1
|
| Ensembl Gene |
ENSMUSG00000030780 |
| Gene Name |
RUS family member 1 |
| Synonyms |
BC017158 |
| MMRRC Submission |
041743-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4487 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127870551-127897303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127887530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 24
(D24G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033044]
[ENSMUST00000126263]
[ENSMUST00000137677]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033044
AA Change: D167G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780
AA Change: D167G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF647
|
62 |
301 |
5.6e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124216
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126263
AA Change: D167G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780
AA Change: D167G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF647
|
61 |
304 |
3e-102 |
PFAM |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137677
AA Change: D24G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117520
Gene: ENSMUSG00000030780
AA Change: D24G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF647
|
1 |
64 |
4.6e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175474
|
| Meta Mutation Damage Score |
0.9374 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
A |
G |
9: 50,651,931 (GRCm39) |
L99P |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,588,185 (GRCm39) |
I4467T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,622 (GRCm39) |
D1500E |
possibly damaging |
Het |
| C1ql2 |
A |
T |
1: 120,269,409 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,512 (GRCm39) |
S891P |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif9 |
A |
G |
9: 110,323,552 (GRCm39) |
E225G |
probably null |
Het |
| Krt76 |
T |
C |
15: 101,798,917 (GRCm39) |
K256R |
possibly damaging |
Het |
| Mapk4 |
T |
C |
18: 74,064,046 (GRCm39) |
D392G |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,135,884 (GRCm39) |
K278R |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,960,547 (GRCm39) |
E18V |
probably damaging |
Het |
| Nepro |
A |
G |
16: 44,556,089 (GRCm39) |
K416E |
probably damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,491,909 (GRCm39) |
|
probably null |
Het |
| Nt5m |
A |
G |
11: 59,739,173 (GRCm39) |
Y73C |
probably damaging |
Het |
| Oaz3 |
A |
T |
3: 94,342,437 (GRCm39) |
|
probably null |
Het |
| Pgap1 |
A |
G |
1: 54,567,751 (GRCm39) |
S365P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,498 (GRCm39) |
I440T |
possibly damaging |
Het |
| Raph1 |
C |
T |
1: 60,542,028 (GRCm39) |
S362N |
possibly damaging |
Het |
| Rftn2 |
A |
G |
1: 55,241,311 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Rhot2 |
G |
A |
17: 26,058,467 (GRCm39) |
H580Y |
probably benign |
Het |
| Rnase2a |
A |
T |
14: 51,493,302 (GRCm39) |
M21K |
unknown |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Snx1 |
A |
T |
9: 65,996,877 (GRCm39) |
V459E |
possibly damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tg |
G |
A |
15: 66,543,245 (GRCm39) |
C53Y |
probably damaging |
Het |
| Tor1aip1 |
G |
T |
1: 155,882,870 (GRCm39) |
T326K |
probably damaging |
Het |
| Vmn1r61 |
C |
A |
7: 5,613,924 (GRCm39) |
C130F |
possibly damaging |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
R0590:Rusf1
|
UTSW |
7 |
127,896,642 (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 |
|
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'- TTCGAACTTCCTTCAGTACAGGG -3'
(R):5'- GTGACCTGACAACTCCTTACAGC -3'
Sequencing Primer
(F):5'- TTCCTTCAGTACAGGGACCGG -3'
(R):5'- CAGCAGTTTTCCTGTGTTCTAAATTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation