Incidental Mutation 'IGL02527:Rusf1'
| ID |
297154 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rusf1
|
| Ensembl Gene |
ENSMUSG00000030780 |
| Gene Name |
RUS family member 1 |
| Synonyms |
BC017158 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL02527
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
127870551-127897303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127875403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 317
(T317S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033044]
[ENSMUST00000118169]
[ENSMUST00000126263]
[ENSMUST00000205720]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033044
AA Change: T317S
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780
AA Change: T317S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF647
|
62 |
301 |
5.6e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118169
|
| SMART Domains |
Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
53 |
490 |
7e-170 |
PFAM |
|
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
635 |
N/A |
INTRINSIC |
|
transmembrane domain
|
650 |
669 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124216
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126263
AA Change: T317S
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780
AA Change: T317S
| 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: ENSMUST00000147091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155177
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206703
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205720
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206716
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,638,392 (GRCm39) |
V868A |
probably damaging |
Het |
| Adam25 |
T |
A |
8: 41,206,785 (GRCm39) |
I17K |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,906,650 (GRCm39) |
M123K |
probably benign |
Het |
| Asic3 |
A |
G |
5: 24,621,275 (GRCm39) |
M332V |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,042,712 (GRCm39) |
M1126K |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,334,966 (GRCm39) |
T818A |
probably damaging |
Het |
| Cda |
G |
A |
4: 138,070,832 (GRCm39) |
Q104* |
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,680,783 (GRCm39) |
N245S |
probably damaging |
Het |
| Cpeb1 |
T |
C |
7: 81,009,635 (GRCm39) |
D234G |
probably damaging |
Het |
| Cpq |
A |
G |
15: 33,302,509 (GRCm39) |
Y220C |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,047,795 (GRCm39) |
K1026R |
possibly damaging |
Het |
| Dpep1 |
T |
C |
8: 123,925,487 (GRCm39) |
F47L |
probably damaging |
Het |
| Dppa4 |
G |
T |
16: 48,109,456 (GRCm39) |
R66L |
possibly damaging |
Het |
| Elac1 |
C |
A |
18: 73,880,304 (GRCm39) |
E31* |
probably null |
Het |
| Fggy |
A |
G |
4: 95,585,306 (GRCm39) |
K62E |
probably damaging |
Het |
| Ficd |
T |
A |
5: 113,875,027 (GRCm39) |
M32K |
probably benign |
Het |
| Foxd4 |
A |
G |
19: 24,877,178 (GRCm39) |
S341P |
probably benign |
Het |
| Gnb4 |
G |
T |
3: 32,644,015 (GRCm39) |
T181K |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,900,389 (GRCm39) |
Y164F |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,598,932 (GRCm39) |
L564P |
probably damaging |
Het |
| Hsd17b4 |
G |
A |
18: 50,293,231 (GRCm39) |
V257I |
probably benign |
Het |
| Itga10 |
C |
A |
3: 96,562,940 (GRCm39) |
|
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,707 (GRCm39) |
V284A |
probably damaging |
Het |
| Klf11 |
T |
A |
12: 24,705,322 (GRCm39) |
S259T |
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,739,628 (GRCm39) |
|
probably benign |
Het |
| Manea |
A |
G |
4: 26,336,619 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
T |
C |
1: 9,760,373 (GRCm39) |
H75R |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,153,959 (GRCm39) |
T2384M |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,039,225 (GRCm39) |
I6938T |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,101,697 (GRCm39) |
D412G |
probably benign |
Het |
| Olah |
T |
C |
2: 3,343,979 (GRCm39) |
E211G |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,249,181 (GRCm39) |
L261S |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,834,161 (GRCm39) |
N208K |
possibly damaging |
Het |
| Prrc1 |
T |
A |
18: 57,522,419 (GRCm39) |
M417K |
probably benign |
Het |
| Ptprq |
G |
A |
10: 107,522,424 (GRCm39) |
T543M |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,804,469 (GRCm39) |
V447A |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 157,035,968 (GRCm39) |
E287G |
probably benign |
Het |
| Tec |
A |
G |
5: 72,936,758 (GRCm39) |
|
probably null |
Het |
| Tex26 |
A |
G |
5: 149,380,407 (GRCm39) |
D61G |
probably damaging |
Het |
| Tgfb1i1 |
G |
A |
7: 127,851,734 (GRCm39) |
|
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,436,675 (GRCm39) |
Y55H |
possibly damaging |
Het |
| Tmem63a |
T |
A |
1: 180,780,539 (GRCm39) |
|
probably null |
Het |
| Umod |
C |
T |
7: 119,068,690 (GRCm39) |
G452D |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,838,776 (GRCm39) |
T2256I |
possibly damaging |
Het |
| Vmn1r31 |
A |
T |
6: 58,449,778 (GRCm39) |
I29K |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,199 (GRCm39) |
Y403H |
possibly damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,286,764 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,724 (GRCm39) |
K320M |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation