Incidental Mutation 'R4051:Rnase4'
ID |
314176 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnase4
|
Ensembl Gene |
ENSMUSG00000021876 |
Gene Name |
ribonuclease, RNase A family 4 |
Synonyms |
C730049F20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.192)
|
Stock # |
R4051 ()
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
51328534-51343608 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51342462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 62
(K62R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022428]
[ENSMUST00000069011]
[ENSMUST00000169895]
[ENSMUST00000171688]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022428
AA Change: K62R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022428 Gene: ENSMUSG00000021876 AA Change: K62R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
RNAse_Pc
|
30 |
148 |
8.54e-60 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069011
|
SMART Domains |
Protein: ENSMUSP00000067434 Gene: ENSMUSG00000072115
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
RNAse_Pc
|
26 |
142 |
6.52e-65 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169895
AA Change: K62R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127274 Gene: ENSMUSG00000021876 AA Change: K62R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
RNAse_Pc
|
30 |
148 |
8.54e-60 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171688
|
SMART Domains |
Protein: ENSMUSP00000132084 Gene: ENSMUSG00000072115
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
RNAse_Pc
|
26 |
142 |
6.52e-65 |
SMART |
|
Meta Mutation Damage Score |
0.0687 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the pancreatic ribonuclease A superfamily. The encoded enzyme is sereted and has unique uridine specificity. This gene resides in a cluster of highly related genes. It shares dual promoters and 5' exons with the angiogenin, ribonuclease, RNase A family, 5 gene. Each gene splices to a unique downstream exon that contains its complete coding region. Two alternatively spliced variants, with different 5' exons but the same coding exon, have been identified. [provided by RefSeq, Jun 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
Ahnak |
A |
C |
19: 8,991,691 (GRCm39) |
D4325A |
probably damaging |
Het |
Chtf18 |
A |
G |
17: 25,938,168 (GRCm39) |
V955A |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
Disc1 |
A |
G |
8: 125,875,164 (GRCm39) |
T547A |
possibly damaging |
Het |
Eif4b |
A |
G |
15: 101,995,039 (GRCm39) |
Y211C |
probably benign |
Het |
Fli1 |
T |
G |
9: 32,363,458 (GRCm39) |
D176A |
probably benign |
Het |
Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
Ice1 |
A |
G |
13: 70,751,646 (GRCm39) |
V1480A |
probably damaging |
Het |
Ier5l |
A |
C |
2: 30,363,324 (GRCm39) |
S234A |
probably benign |
Het |
Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
Itga11 |
C |
T |
9: 62,662,933 (GRCm39) |
Q550* |
probably null |
Het |
Kdr |
T |
A |
5: 76,129,068 (GRCm39) |
M193L |
probably benign |
Het |
Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
Or52m1 |
T |
C |
7: 102,290,233 (GRCm39) |
V260A |
possibly damaging |
Het |
Peg10 |
T |
C |
6: 4,754,534 (GRCm39) |
L105P |
probably benign |
Het |
Phtf1 |
A |
G |
3: 103,912,824 (GRCm39) |
T717A |
possibly damaging |
Het |
Ptafr |
T |
C |
4: 132,307,305 (GRCm39) |
W232R |
probably benign |
Het |
Slamf7 |
T |
C |
1: 171,464,951 (GRCm39) |
K261E |
possibly damaging |
Het |
Slc9c1 |
T |
A |
16: 45,363,593 (GRCm39) |
Y120N |
probably damaging |
Het |
Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,030,404 (GRCm39) |
Y420C |
probably damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,062,070 (GRCm39) |
C1210R |
probably benign |
Het |
Tnfsf10 |
T |
A |
3: 27,389,503 (GRCm39) |
I188N |
probably damaging |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Usp46 |
T |
C |
5: 74,163,416 (GRCm39) |
N283S |
probably benign |
Het |
Vmn2r84 |
T |
G |
10: 130,226,767 (GRCm39) |
N357T |
probably damaging |
Het |
Zfp217 |
T |
C |
2: 169,954,536 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Rnase4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01610:Rnase4
|
APN |
14 |
51,342,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R0601:Rnase4
|
UTSW |
14 |
51,342,552 (GRCm39) |
missense |
probably benign |
|
R0671:Rnase4
|
UTSW |
14 |
51,342,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R0948:Rnase4
|
UTSW |
14 |
51,342,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R1571:Rnase4
|
UTSW |
14 |
51,342,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R1758:Rnase4
|
UTSW |
14 |
51,342,722 (GRCm39) |
makesense |
probably null |
|
R1893:Rnase4
|
UTSW |
14 |
51,342,395 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4052:Rnase4
|
UTSW |
14 |
51,342,462 (GRCm39) |
missense |
probably benign |
|
R4207:Rnase4
|
UTSW |
14 |
51,342,462 (GRCm39) |
missense |
probably benign |
|
R4208:Rnase4
|
UTSW |
14 |
51,342,462 (GRCm39) |
missense |
probably benign |
|
R5074:Rnase4
|
UTSW |
14 |
51,342,702 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5739:Rnase4
|
UTSW |
14 |
51,342,306 (GRCm39) |
missense |
probably benign |
0.01 |
R6742:Rnase4
|
UTSW |
14 |
51,342,486 (GRCm39) |
missense |
probably benign |
0.12 |
R7878:Rnase4
|
UTSW |
14 |
51,342,333 (GRCm39) |
missense |
probably damaging |
0.98 |
R9086:Rnase4
|
UTSW |
14 |
51,342,429 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9091:Rnase4
|
UTSW |
14 |
51,342,662 (GRCm39) |
missense |
probably benign |
0.33 |
R9270:Rnase4
|
UTSW |
14 |
51,342,662 (GRCm39) |
missense |
probably benign |
0.33 |
R9526:Rnase4
|
UTSW |
14 |
51,342,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GATGGATCTACAGAGGACTCAGTC -3'
(R):5'- CAATGACAACTCGCCTAGTGC -3'
Sequencing Primer
(F):5'- AGTCCTTGCTTCTGCTCTTGGTG -3'
(R):5'- ACAACTCGCCTAGTGCTGGTTC -3'
|
Posted On |
2015-04-30 |