Incidental Mutation 'R4353:Rnf38'
ID |
327399 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf38
|
Ensembl Gene |
ENSMUSG00000035696 |
Gene Name |
ring finger protein 38 |
Synonyms |
2610202O07Rik, 1700065B19Rik, Oip1 |
MMRRC Submission |
040866-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.559)
|
Stock # |
R4353 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
44126210-44233789 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44149100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 82
(N82K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045793]
[ENSMUST00000098098]
[ENSMUST00000102934]
[ENSMUST00000107836]
[ENSMUST00000128426]
[ENSMUST00000136730]
[ENSMUST00000145760]
[ENSMUST00000143337]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045793
AA Change: N82K
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000038477 Gene: ENSMUSG00000035696 AA Change: N82K
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: N114K
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000095702 Gene: ENSMUSG00000035696 AA Change: N114K
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 |
possibly damaging
Transcript: ENSMUST00000102934
AA Change: N82K
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099998 Gene: ENSMUSG00000035696 AA Change: N82K
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 |
possibly damaging
Transcript: ENSMUST00000107836
AA Change: N82K
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103467 Gene: ENSMUSG00000035696 AA Change: N82K
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 |
noncoding transcript
Transcript: ENSMUST00000123844
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128426
AA Change: N82K
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000119889 Gene: ENSMUSG00000035696 AA Change: N82K
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153384
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136730
AA Change: N82K
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116642 Gene: ENSMUSG00000035696 AA Change: N82K
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 |
possibly damaging
Transcript: ENSMUST00000145760
AA Change: N82K
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000121329 Gene: ENSMUSG00000035696 AA Change: N82K
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
low complexity region
|
192 |
202 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143337
AA Change: N82K
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000122342 Gene: ENSMUSG00000035696 AA Change: N82K
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137194
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153116
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129621
|
Meta Mutation Damage Score |
0.0596 |
Coding Region Coverage |
- 1x: 99.3%
- 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.] 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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Alpk2 |
C |
T |
18: 65,424,523 (GRCm39) |
R1888H |
possibly damaging |
Het |
Arhgap33 |
C |
A |
7: 30,223,561 (GRCm39) |
V823L |
possibly damaging |
Het |
Atp2b2 |
T |
C |
6: 113,742,745 (GRCm39) |
I736V |
probably benign |
Het |
Atp8a1 |
T |
C |
5: 67,926,451 (GRCm39) |
T260A |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,192,437 (GRCm39) |
E433G |
possibly damaging |
Het |
Bzw2 |
A |
T |
12: 36,173,978 (GRCm39) |
F99I |
probably damaging |
Het |
Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
Col27a1 |
G |
T |
4: 63,143,868 (GRCm39) |
A519S |
probably benign |
Het |
Coq6 |
G |
A |
12: 84,414,923 (GRCm39) |
G110D |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,316,708 (GRCm39) |
T281A |
probably benign |
Het |
Cttnbp2 |
T |
C |
6: 18,514,703 (GRCm39) |
D11G |
probably benign |
Het |
Cyp2c37 |
A |
G |
19: 39,988,989 (GRCm39) |
Y316C |
possibly damaging |
Het |
Dcdc2a |
T |
A |
13: 25,240,474 (GRCm39) |
I74N |
probably damaging |
Het |
Dhx9 |
A |
G |
1: 153,347,535 (GRCm39) |
L391P |
probably damaging |
Het |
Dsc2 |
G |
T |
18: 20,183,125 (GRCm39) |
L98I |
probably damaging |
Het |
Dthd1 |
T |
A |
5: 63,000,210 (GRCm39) |
S511T |
probably benign |
Het |
Dusp2 |
A |
G |
2: 127,179,256 (GRCm39) |
T204A |
probably damaging |
Het |
Elovl5 |
T |
C |
9: 77,868,199 (GRCm39) |
V37A |
probably benign |
Het |
Etv1 |
A |
G |
12: 38,907,105 (GRCm39) |
E369G |
probably damaging |
Het |
Gem |
G |
A |
4: 11,705,939 (GRCm39) |
R9H |
probably damaging |
Het |
Heg1 |
A |
G |
16: 33,530,847 (GRCm39) |
T108A |
probably benign |
Het |
Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
Iqgap2 |
C |
T |
13: 95,807,904 (GRCm39) |
V788M |
probably damaging |
Het |
Kyat3 |
T |
C |
3: 142,437,054 (GRCm39) |
|
probably null |
Het |
Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
Meis2 |
A |
G |
2: 115,890,044 (GRCm39) |
M146T |
probably damaging |
Het |
Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
Nt5el |
T |
C |
13: 105,255,253 (GRCm39) |
Y445H |
probably benign |
Het |
Nup214 |
T |
C |
2: 31,867,929 (GRCm39) |
|
probably null |
Het |
Or2h1b |
T |
A |
17: 37,462,228 (GRCm39) |
I58F |
probably damaging |
Het |
Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
Poln |
C |
T |
5: 34,286,796 (GRCm39) |
C124Y |
probably benign |
Het |
Ppp2r2a |
T |
A |
14: 67,266,386 (GRCm39) |
I92L |
probably damaging |
Het |
Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
Rnf130 |
T |
C |
11: 49,978,267 (GRCm39) |
V276A |
possibly damaging |
Het |
Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
Scn7a |
T |
A |
2: 66,506,780 (GRCm39) |
M1370L |
probably benign |
Het |
Sema4b |
C |
A |
7: 79,865,399 (GRCm39) |
L125I |
probably damaging |
Het |
Slc12a7 |
C |
T |
13: 73,938,853 (GRCm39) |
T210I |
possibly damaging |
Het |
Sox8 |
A |
C |
17: 25,786,309 (GRCm39) |
*465G |
probably null |
Het |
Spg11 |
G |
T |
2: 121,943,675 (GRCm39) |
T159K |
possibly damaging |
Het |
Stk36 |
A |
G |
1: 74,671,966 (GRCm39) |
R889G |
possibly damaging |
Het |
Tmbim7 |
A |
G |
5: 3,711,796 (GRCm39) |
S14G |
probably benign |
Het |
Usp16 |
A |
G |
16: 87,267,242 (GRCm39) |
N211D |
probably damaging |
Het |
Vmn1r6 |
C |
T |
6: 56,979,677 (GRCm39) |
A113V |
possibly damaging |
Het |
Zc3h14 |
A |
G |
12: 98,730,219 (GRCm39) |
N92D |
possibly damaging |
Het |
Zfp638 |
T |
C |
6: 83,961,041 (GRCm39) |
S1206P |
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 |
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 |
|
R7351:Rnf38
|
UTSW |
4 |
44,149,102 (GRCm39) |
missense |
probably benign |
0.40 |
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'- AGTTATGTGCCACAGACCTGG -3'
(R):5'- CCTGATGAATCATACTAGTTAGTAAGC -3'
Sequencing Primer
(F):5'- CAGACCTGGCTAAATTTCCATTAC -3'
(R):5'- AAGAAGGGAACGTCTGTC -3'
|
Posted On |
2015-07-07 |