Incidental Mutation 'R0948:Rnase4'
| ID |
81730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnase4
|
| Ensembl Gene |
ENSMUSG00000021876 |
| Gene Name |
ribonuclease, RNase A family 4 |
| Synonyms |
C730049F20Rik |
| MMRRC Submission |
039087-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R0948 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51328534-51343608 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 51342362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 29
(G29C)
|
| 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 damaging
Transcript: ENSMUST00000022428
AA Change: G29C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022428
Gene: ENSMUSG00000021876
AA Change: G29C
| 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 damaging
Transcript: ENSMUST00000169895
AA Change: G29C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127274
Gene: ENSMUSG00000021876
AA Change: G29C
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 92.4%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
C |
T |
19: 8,867,390 (GRCm39) |
T63M |
probably damaging |
Het |
| Abcb1a |
T |
A |
5: 8,790,621 (GRCm39) |
|
probably null |
Het |
| Ahrr |
T |
C |
13: 74,361,888 (GRCm39) |
D537G |
probably damaging |
Het |
| Anxa4 |
T |
A |
6: 86,718,913 (GRCm39) |
I269F |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,278 (GRCm39) |
Y401C |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,407,258 (GRCm39) |
M1160K |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,177,897 (GRCm39) |
Y434H |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,335,882 (GRCm39) |
A855T |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,010,213 (GRCm39) |
D246G |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,694,847 (GRCm39) |
L840P |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,712,829 (GRCm39) |
D2009E |
probably damaging |
Het |
| E2f3 |
C |
T |
13: 30,169,516 (GRCm39) |
A46T |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,016,334 (GRCm39) |
C635S |
probably damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,435,924 (GRCm39) |
D439G |
probably benign |
Het |
| Hao1 |
A |
C |
2: 134,372,693 (GRCm39) |
M105R |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,238,525 (GRCm39) |
I552T |
probably damaging |
Het |
| Il31ra |
A |
G |
13: 112,666,912 (GRCm39) |
S470P |
possibly damaging |
Het |
| Mfsd1 |
A |
G |
3: 67,504,067 (GRCm39) |
N353S |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,772,140 (GRCm39) |
F1667I |
possibly damaging |
Het |
| Niban2 |
A |
G |
2: 32,812,872 (GRCm39) |
Y480C |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,964,655 (GRCm39) |
V1413A |
probably damaging |
Het |
| Or8b1 |
T |
G |
9: 38,400,244 (GRCm39) |
S306R |
probably benign |
Het |
| Or8b50 |
G |
A |
9: 38,517,787 (GRCm39) |
V9I |
possibly damaging |
Het |
| Osbpl10 |
T |
A |
9: 114,996,187 (GRCm39) |
V119E |
probably damaging |
Het |
| Plec |
C |
A |
15: 76,089,887 (GRCm39) |
R151L |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,203,041 (GRCm39) |
H579R |
probably benign |
Het |
| Sim1 |
C |
A |
10: 50,857,423 (GRCm39) |
S391* |
probably null |
Het |
| Sobp |
A |
T |
10: 42,898,205 (GRCm39) |
I460N |
probably damaging |
Het |
| Spns3 |
A |
T |
11: 72,436,766 (GRCm39) |
D75E |
probably damaging |
Het |
| Strn4 |
T |
A |
7: 16,571,638 (GRCm39) |
C26* |
probably null |
Het |
| Tacstd2 |
T |
A |
6: 67,512,102 (GRCm39) |
I197L |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,610,416 (GRCm39) |
T295A |
possibly damaging |
Het |
| Txnl1 |
G |
T |
18: 63,825,191 (GRCm39) |
S18R |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,343,550 (GRCm39) |
|
probably benign |
Het |
| Ube2frt |
A |
T |
12: 36,140,934 (GRCm39) |
|
probably benign |
Het |
| Vwce |
A |
G |
19: 10,630,441 (GRCm39) |
Y500C |
probably damaging |
Het |
| Wdr49 |
A |
C |
3: 75,358,158 (GRCm39) |
S196A |
probably benign |
Het |
| Wfs1 |
T |
C |
5: 37,124,905 (GRCm39) |
Y662C |
probably damaging |
Het |
| Wnt8b |
A |
C |
19: 44,498,968 (GRCm39) |
D133A |
possibly damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
| Zfp532 |
C |
A |
18: 65,756,889 (GRCm39) |
A274E |
probably damaging |
Het |
| Zfp74 |
A |
G |
7: 29,635,362 (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 |
|
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 |
|
R4051:Rnase4
|
UTSW |
14 |
51,342,462 (GRCm39) |
missense |
probably benign |
|
|
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'- TGACTTGTTCTGTTAGCTGTACGCC -3'
(R):5'- GTGACCTTCACTACACCTTCGTGAC -3'
Sequencing Primer
(F):5'- AGCTGTACGCCTGTCAATTAG -3'
(R):5'- CCGTTCTTGCACAGGATATTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation