Incidental Mutation 'R7351:Rnf38'
ID |
570559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf38
|
Ensembl Gene |
ENSMUSG00000035696 |
Gene Name |
ring finger protein 38 |
Synonyms |
2610202O07Rik, 1700065B19Rik, Oip1 |
MMRRC Submission |
045437-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.559)
|
Stock # |
R7351 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
44126210-44233789 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44149102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 114
(N114D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045793]
[ENSMUST00000098098]
[ENSMUST00000102934]
[ENSMUST00000107836]
[ENSMUST00000128426]
[ENSMUST00000136730]
[ENSMUST00000143337]
[ENSMUST00000145760]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045793
AA Change: N82D
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000038477 Gene: ENSMUSG00000035696 AA Change: N82D
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
low complexity region
|
244 |
258 |
N/A |
INTRINSIC |
low complexity region
|
287 |
310 |
N/A |
INTRINSIC |
RING
|
380 |
420 |
9.09e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098098
AA Change: N114D
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000095702 Gene: ENSMUSG00000035696 AA Change: N114D
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
32 |
N/A |
INTRINSIC |
low complexity region
|
64 |
83 |
N/A |
INTRINSIC |
low complexity region
|
224 |
239 |
N/A |
INTRINSIC |
low complexity region
|
276 |
290 |
N/A |
INTRINSIC |
low complexity region
|
319 |
342 |
N/A |
INTRINSIC |
RING
|
412 |
452 |
9.09e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102934
AA Change: N82D
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099998 Gene: ENSMUSG00000035696 AA Change: N82D
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
low complexity region
|
244 |
258 |
N/A |
INTRINSIC |
low complexity region
|
287 |
310 |
N/A |
INTRINSIC |
RING
|
380 |
420 |
9.09e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107836
AA Change: N82D
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000103467 Gene: ENSMUSG00000035696 AA Change: N82D
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
low complexity region
|
244 |
258 |
N/A |
INTRINSIC |
low complexity region
|
287 |
310 |
N/A |
INTRINSIC |
RING
|
380 |
420 |
9.09e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128426
AA Change: N82D
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000119889 Gene: ENSMUSG00000035696 AA Change: N82D
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136730
AA Change: N82D
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116642 Gene: ENSMUSG00000035696 AA Change: N82D
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
low complexity region
|
244 |
258 |
N/A |
INTRINSIC |
low complexity region
|
287 |
310 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143337
AA Change: N82D
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000122342 Gene: ENSMUSG00000035696 AA Change: N82D
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145760
AA Change: N82D
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000121329 Gene: ENSMUSG00000035696 AA Change: N82D
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
low complexity region
|
192 |
202 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0582 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (56/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
A |
3: 124,206,159 (GRCm39) |
G343V |
probably damaging |
Het |
Adamts6 |
G |
A |
13: 104,526,620 (GRCm39) |
S516N |
possibly damaging |
Het |
Ahi1 |
A |
G |
10: 20,841,832 (GRCm39) |
D301G |
probably damaging |
Het |
Arhgef37 |
T |
A |
18: 61,631,286 (GRCm39) |
L566F |
possibly damaging |
Het |
AU040320 |
A |
G |
4: 126,710,237 (GRCm39) |
N328D |
probably damaging |
Het |
Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
Brk1 |
T |
C |
6: 113,592,742 (GRCm39) |
S42P |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,903,887 (GRCm39) |
E351G |
possibly damaging |
Het |
Cenpo |
A |
T |
12: 4,266,581 (GRCm39) |
F176I |
probably damaging |
Het |
Cfap97d1 |
A |
G |
11: 101,882,331 (GRCm39) |
E163G |
probably benign |
Het |
Clec12b |
A |
G |
6: 129,356,874 (GRCm39) |
|
probably null |
Het |
Ddx42 |
A |
G |
11: 106,138,508 (GRCm39) |
N769S |
probably benign |
Het |
Drc7 |
A |
G |
8: 95,785,135 (GRCm39) |
D165G |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,167,145 (GRCm39) |
I486N |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,270,034 (GRCm39) |
D679G |
probably benign |
Het |
Gml2 |
T |
C |
15: 74,693,225 (GRCm39) |
V76A |
possibly damaging |
Het |
Gpr26 |
T |
C |
7: 131,576,094 (GRCm39) |
C253R |
probably damaging |
Het |
H2-Q4 |
A |
G |
17: 35,601,854 (GRCm39) |
T239A |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,543,640 (GRCm39) |
Y2845F |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
Irgm2 |
G |
A |
11: 58,110,431 (GRCm39) |
V41M |
possibly damaging |
Het |
Lrp2 |
C |
T |
2: 69,278,486 (GRCm39) |
G3956R |
probably damaging |
Het |
Matn2 |
G |
A |
15: 34,345,482 (GRCm39) |
R163H |
probably damaging |
Het |
Mxd1 |
A |
G |
6: 86,628,448 (GRCm39) |
S151P |
probably damaging |
Het |
Or10ak16 |
T |
C |
4: 118,751,033 (GRCm39) |
V251A |
probably benign |
Het |
Or4a73 |
C |
T |
2: 89,420,857 (GRCm39) |
G201S |
probably benign |
Het |
Or5m10b |
G |
T |
2: 85,694,415 (GRCm39) |
|
probably benign |
Het |
Or8b3 |
C |
T |
9: 38,314,739 (GRCm39) |
L190F |
probably damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Plcg2 |
A |
G |
8: 118,317,049 (GRCm39) |
E642G |
possibly damaging |
Het |
Pramel6 |
T |
A |
2: 87,340,672 (GRCm39) |
F335I |
probably benign |
Het |
Psd |
G |
T |
19: 46,310,869 (GRCm39) |
S393R |
probably benign |
Het |
Pwwp2a |
A |
G |
11: 43,573,107 (GRCm39) |
D63G |
probably benign |
Het |
Rbm28 |
T |
C |
6: 29,158,879 (GRCm39) |
T139A |
probably benign |
Het |
Ripk2 |
T |
G |
4: 16,155,048 (GRCm39) |
E157A |
probably damaging |
Het |
Rnf145 |
G |
A |
11: 44,439,623 (GRCm39) |
V140I |
possibly damaging |
Het |
Samd9l |
G |
A |
6: 3,374,157 (GRCm39) |
R1035C |
probably benign |
Het |
Sec14l3 |
A |
G |
11: 4,024,785 (GRCm39) |
T245A |
probably benign |
Het |
Serpina10 |
A |
T |
12: 103,595,194 (GRCm39) |
F8L |
probably benign |
Het |
Slc16a8 |
T |
A |
15: 79,137,841 (GRCm39) |
D56V |
probably damaging |
Het |
Spag9 |
A |
T |
11: 93,983,802 (GRCm39) |
E726D |
probably benign |
Het |
Spg11 |
A |
G |
2: 121,900,412 (GRCm39) |
F1547L |
possibly damaging |
Het |
Sspo |
T |
C |
6: 48,441,855 (GRCm39) |
I1955T |
possibly damaging |
Het |
Stx18 |
T |
A |
5: 38,196,755 (GRCm39) |
V27E |
probably benign |
Het |
Taf1c |
A |
G |
8: 120,325,739 (GRCm39) |
S708P |
probably damaging |
Het |
Tas2r126 |
T |
C |
6: 42,412,240 (GRCm39) |
F258L |
probably benign |
Het |
Tdpoz2 |
C |
T |
3: 93,559,900 (GRCm39) |
W24* |
probably null |
Het |
Tmc8 |
T |
C |
11: 117,674,654 (GRCm39) |
L123P |
probably damaging |
Het |
Trmo |
A |
T |
4: 46,387,716 (GRCm39) |
Y35N |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,598,030 (GRCm39) |
V19628I |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,770,274 (GRCm39) |
A2685V |
unknown |
Het |
Usp15 |
A |
T |
10: 122,968,904 (GRCm39) |
M349K |
probably damaging |
Het |
Vmn2r89 |
A |
G |
14: 51,693,739 (GRCm39) |
N363S |
probably benign |
Het |
Vwa3a |
T |
A |
7: 120,375,559 (GRCm39) |
I423N |
probably damaging |
Het |
Zfp592 |
T |
C |
7: 80,691,439 (GRCm39) |
V1206A |
probably benign |
Het |
Zfp866 |
A |
T |
8: 70,218,547 (GRCm39) |
Y358N |
probably damaging |
Het |
|
Other mutations in Rnf38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01073:Rnf38
|
APN |
4 |
44,137,645 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01992:Rnf38
|
APN |
4 |
44,138,806 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02682:Rnf38
|
APN |
4 |
44,133,745 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02951:Rnf38
|
APN |
4 |
44,129,619 (GRCm39) |
nonsense |
probably null |
|
IGL03032:Rnf38
|
APN |
4 |
44,152,529 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03326:Rnf38
|
APN |
4 |
44,149,182 (GRCm39) |
missense |
probably benign |
0.27 |
R0335:Rnf38
|
UTSW |
4 |
44,152,507 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0336:Rnf38
|
UTSW |
4 |
44,152,350 (GRCm39) |
splice site |
probably benign |
|
R1473:Rnf38
|
UTSW |
4 |
44,131,584 (GRCm39) |
missense |
probably benign |
0.00 |
R1552:Rnf38
|
UTSW |
4 |
44,142,468 (GRCm39) |
splice site |
probably null |
|
R1670:Rnf38
|
UTSW |
4 |
44,138,681 (GRCm39) |
missense |
probably damaging |
0.96 |
R1708:Rnf38
|
UTSW |
4 |
44,143,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R1943:Rnf38
|
UTSW |
4 |
44,138,748 (GRCm39) |
missense |
probably damaging |
0.99 |
R2063:Rnf38
|
UTSW |
4 |
44,149,098 (GRCm39) |
missense |
probably damaging |
0.99 |
R4348:Rnf38
|
UTSW |
4 |
44,149,100 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4352:Rnf38
|
UTSW |
4 |
44,149,100 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4353:Rnf38
|
UTSW |
4 |
44,149,100 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4618:Rnf38
|
UTSW |
4 |
44,142,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R4967:Rnf38
|
UTSW |
4 |
44,152,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R5230:Rnf38
|
UTSW |
4 |
44,149,176 (GRCm39) |
missense |
probably benign |
0.17 |
R6275:Rnf38
|
UTSW |
4 |
44,152,408 (GRCm39) |
missense |
probably benign |
0.11 |
R6855:Rnf38
|
UTSW |
4 |
44,149,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R7200:Rnf38
|
UTSW |
4 |
44,137,620 (GRCm39) |
missense |
probably benign |
0.01 |
R7326:Rnf38
|
UTSW |
4 |
44,158,989 (GRCm39) |
intron |
probably benign |
|
R8728:Rnf38
|
UTSW |
4 |
44,131,615 (GRCm39) |
missense |
probably benign |
0.17 |
R8969:Rnf38
|
UTSW |
4 |
44,149,079 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9313:Rnf38
|
UTSW |
4 |
44,143,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACAGACCTGGCTAAATTTCC -3'
(R):5'- CCTGATGAATCATACTAGTTAGTAAGC -3'
Sequencing Primer
(F):5'- CAGACCTGGCTAAATTTCCATTAC -3'
(R):5'- AAGAAGGGAACGTCTGTC -3'
|
Posted On |
2019-09-13 |