Incidental Mutation 'R2972:Rnf130'
| ID |
255247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf130
|
| Ensembl Gene |
ENSMUSG00000020376 |
| Gene Name |
ring finger protein 130 |
| Synonyms |
G1RP, 2510042A13Rik, G1RZFP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R2972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
49916173-50016546 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 49984627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 309
(L309*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054684]
[ENSMUST00000102776]
|
| AlphaFold |
Q8VEM1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054684
AA Change: L309*
|
| SMART Domains |
Protein: ENSMUSP00000056345
Gene: ENSMUSG00000020376
AA Change: L309*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
|
Pfam:PA
|
65 |
169 |
4.6e-13 |
PFAM |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
RING
|
264 |
304 |
5.51e-7 |
SMART |
|
low complexity region
|
341 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102776
AA Change: L309*
|
| SMART Domains |
Protein: ENSMUSP00000099837
Gene: ENSMUSG00000020376
AA Change: L309*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
|
Pfam:PA
|
69 |
167 |
8.1e-14 |
PFAM |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
RING
|
264 |
304 |
5.51e-7 |
SMART |
|
low complexity region
|
341 |
354 |
N/A |
INTRINSIC |
|
transmembrane domain
|
387 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143607
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Card9 |
C |
T |
2: 26,247,222 (GRCm39) |
R309H |
probably damaging |
Het |
| Clec14a |
T |
A |
12: 58,314,360 (GRCm39) |
R421W |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Dhrs7c |
T |
A |
11: 67,706,697 (GRCm39) |
I285N |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,671 (GRCm39) |
N752S |
probably benign |
Het |
| Klrb1-ps1 |
A |
G |
6: 129,096,719 (GRCm39) |
|
noncoding transcript |
Het |
| Nin |
G |
A |
12: 70,109,487 (GRCm39) |
R151C |
probably damaging |
Het |
| Nsun6 |
A |
C |
2: 15,042,883 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
| Or1n2 |
G |
A |
2: 36,797,416 (GRCm39) |
V153M |
probably benign |
Het |
| Or4a69 |
G |
T |
2: 89,313,120 (GRCm39) |
R120S |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,410,644 (GRCm39) |
M2717K |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,867,540 (GRCm39) |
K5E |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
probably benign |
Het |
|
| Other mutations in Rnf130 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Rnf130
|
APN |
11 |
49,984,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02364:Rnf130
|
APN |
11 |
49,986,667 (GRCm39) |
missense |
probably benign |
|
|
IGL02948:Rnf130
|
APN |
11 |
49,943,598 (GRCm39) |
splice site |
probably benign |
|
|
R0145:Rnf130
|
UTSW |
11 |
49,962,046 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0358:Rnf130
|
UTSW |
11 |
49,962,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0570:Rnf130
|
UTSW |
11 |
49,986,703 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0786:Rnf130
|
UTSW |
11 |
49,978,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Rnf130
|
UTSW |
11 |
49,978,213 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2312:Rnf130
|
UTSW |
11 |
49,978,290 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4353:Rnf130
|
UTSW |
11 |
49,978,267 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4398:Rnf130
|
UTSW |
11 |
49,962,205 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5162:Rnf130
|
UTSW |
11 |
49,943,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Rnf130
|
UTSW |
11 |
49,986,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5869:Rnf130
|
UTSW |
11 |
49,976,642 (GRCm39) |
splice site |
probably null |
|
|
R6432:Rnf130
|
UTSW |
11 |
49,986,617 (GRCm39) |
nonsense |
probably null |
|
|
R6865:Rnf130
|
UTSW |
11 |
49,962,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Rnf130
|
UTSW |
11 |
49,962,097 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8226:Rnf130
|
UTSW |
11 |
49,962,097 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8293:Rnf130
|
UTSW |
11 |
49,986,623 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8508:Rnf130
|
UTSW |
11 |
49,978,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Rnf130
|
UTSW |
11 |
49,986,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGATTGGGTACAGGAGAGTTTC -3'
(R):5'- TCTGGAACAAGGGCACTGTTG -3'
Sequencing Primer
(F):5'- CAGTGTTGAAAATCCCTTAAAGCAG -3'
(R):5'- GTGCTGAAGAGAGCTAGT -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation