Incidental Mutation 'IGL02067:1700028K03Rik'
ID |
185690 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1700028K03Rik
|
Ensembl Gene |
ENSMUSG00000089798 |
Gene Name |
RIKEN cDNA 1700028K03 gene |
Synonyms |
Spo16, SCRE |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.146)
|
Stock # |
IGL02067
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
107682586-107699415 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 107691816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 36
(R36*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058921]
[ENSMUST00000159902]
[ENSMUST00000160160]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000058921
AA Change: R36*
|
SMART Domains |
Protein: ENSMUSP00000058373 Gene: ENSMUSG00000089798 AA Change: R36*
Domain | Start | End | E-Value | Type |
Pfam:DUF4580
|
12 |
173 |
1.4e-81 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143074
|
SMART Domains |
Protein: ENSMUSP00000122032 Gene: ENSMUSG00000106631
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159902
AA Change: R36*
|
SMART Domains |
Protein: ENSMUSP00000124574 Gene: ENSMUSG00000089798 AA Change: R36*
Domain | Start | End | E-Value | Type |
Pfam:DUF4580
|
10 |
177 |
1.4e-80 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160160
AA Change: R36*
|
SMART Domains |
Protein: ENSMUSP00000124398 Gene: ENSMUSG00000106631 AA Change: R36*
Domain | Start | End | E-Value | Type |
Pfam:DUF4580
|
10 |
140 |
1.5e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163064
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aplp2 |
T |
A |
9: 31,062,191 (GRCm39) |
K688N |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,213,825 (GRCm39) |
Q13K |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Chrna6 |
A |
G |
8: 27,894,424 (GRCm39) |
S494P |
probably damaging |
Het |
Clcc1 |
T |
A |
3: 108,576,037 (GRCm39) |
L195H |
probably damaging |
Het |
Coq3 |
A |
G |
4: 21,900,397 (GRCm39) |
E208G |
probably benign |
Het |
Dock4 |
T |
G |
12: 40,884,384 (GRCm39) |
S1684A |
probably damaging |
Het |
Duoxa2 |
G |
A |
2: 122,131,072 (GRCm39) |
V78M |
possibly damaging |
Het |
Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
Fam8a1 |
G |
T |
13: 46,823,324 (GRCm39) |
R88L |
possibly damaging |
Het |
Ganc |
A |
G |
2: 120,236,785 (GRCm39) |
D23G |
probably benign |
Het |
Gm14305 |
A |
T |
2: 176,411,110 (GRCm39) |
E53D |
probably damaging |
Het |
Ing5 |
T |
A |
1: 93,739,648 (GRCm39) |
L58Q |
probably damaging |
Het |
Klrb1-ps1 |
A |
G |
6: 129,106,351 (GRCm39) |
D164G |
probably damaging |
Het |
Lama2 |
G |
A |
10: 27,052,792 (GRCm39) |
T1389M |
probably benign |
Het |
Lrp6 |
A |
T |
6: 134,457,359 (GRCm39) |
I815K |
probably damaging |
Het |
Nek10 |
A |
G |
14: 14,861,639 (GRCm38) |
D565G |
probably benign |
Het |
Opa1 |
A |
G |
16: 29,435,473 (GRCm39) |
E641G |
probably damaging |
Het |
Rbm44 |
T |
C |
1: 91,080,567 (GRCm39) |
S252P |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,173,247 (GRCm39) |
V1810A |
probably damaging |
Het |
Sh3pxd2b |
T |
C |
11: 32,373,095 (GRCm39) |
V754A |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,745,263 (GRCm39) |
T566A |
probably benign |
Het |
Stxbp6 |
C |
T |
12: 44,908,081 (GRCm39) |
R179Q |
probably damaging |
Het |
Supt6 |
T |
A |
11: 78,121,983 (GRCm39) |
Y223F |
probably benign |
Het |
Tdrd6 |
T |
C |
17: 43,939,100 (GRCm39) |
I649M |
probably damaging |
Het |
Tecrl |
A |
T |
5: 83,432,122 (GRCm39) |
C258S |
probably benign |
Het |
Zfp128 |
T |
C |
7: 12,618,977 (GRCm39) |
I74T |
possibly damaging |
Het |
|
Other mutations in 1700028K03Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02152:1700028K03Rik
|
APN |
5 |
107,695,983 (GRCm39) |
missense |
probably benign |
0.05 |
PIT4618001:1700028K03Rik
|
UTSW |
5 |
107,693,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R0519:1700028K03Rik
|
UTSW |
5 |
107,696,067 (GRCm39) |
missense |
probably benign |
0.34 |
R2040:1700028K03Rik
|
UTSW |
5 |
107,693,607 (GRCm39) |
missense |
probably benign |
|
R2858:1700028K03Rik
|
UTSW |
5 |
107,693,667 (GRCm39) |
missense |
probably benign |
0.33 |
R5618:1700028K03Rik
|
UTSW |
5 |
107,696,065 (GRCm39) |
nonsense |
probably null |
|
R6408:1700028K03Rik
|
UTSW |
5 |
107,691,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7545:1700028K03Rik
|
UTSW |
5 |
107,696,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R7911:1700028K03Rik
|
UTSW |
5 |
107,693,667 (GRCm39) |
missense |
probably benign |
0.01 |
R9155:1700028K03Rik
|
UTSW |
5 |
107,691,811 (GRCm39) |
missense |
probably damaging |
0.97 |
R9523:1700028K03Rik
|
UTSW |
5 |
107,687,057 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Posted On |
2014-05-07 |