Incidental Mutation 'R6275:Rnf38'
| ID |
507567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf38
|
| Ensembl Gene |
ENSMUSG00000035696 |
| Gene Name |
ring finger protein 38 |
| Synonyms |
2610202O07Rik, 1700065B19Rik, Oip1 |
| MMRRC Submission |
044445-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.559)
|
| Stock # |
R6275 (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 A
at 44152408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 52
(H52L)
|
| 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: H20L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000038477
Gene: ENSMUSG00000035696
AA Change: H20L
| 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: H52L
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000095702
Gene: ENSMUSG00000035696
AA Change: H52L
| 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: H20L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099998
Gene: ENSMUSG00000035696
AA Change: H20L
| 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: H20L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103467
Gene: ENSMUSG00000035696
AA Change: H20L
| 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: H20L
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000119889
Gene: ENSMUSG00000035696
AA Change: H20L
| 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: ENSMUST00000129621
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136730
AA Change: H20L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000116642
Gene: ENSMUSG00000035696
AA Change: H20L
| 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: H20L
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000122342
Gene: ENSMUSG00000035696
AA Change: H20L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145760
AA Change: H20L
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000121329
Gene: ENSMUSG00000035696
AA Change: H20L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153116
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.4%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,833,625 (GRCm39) |
L30H |
probably damaging |
Het |
| Abcb6 |
T |
C |
1: 75,149,195 (GRCm39) |
|
probably null |
Het |
| Acsbg1 |
T |
A |
9: 54,517,056 (GRCm39) |
M586L |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,811,314 (GRCm39) |
Y159F |
probably damaging |
Het |
| C1ql1 |
A |
G |
11: 102,830,575 (GRCm39) |
I254T |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,531,519 (GRCm39) |
D318G |
possibly damaging |
Het |
| Ccr7 |
C |
T |
11: 99,036,489 (GRCm39) |
M144I |
probably damaging |
Het |
| Cdca3 |
C |
T |
6: 124,809,627 (GRCm39) |
|
probably null |
Het |
| Ces1h |
A |
T |
8: 94,099,274 (GRCm39) |
L93I |
probably benign |
Het |
| Cntfr |
T |
C |
4: 41,663,216 (GRCm39) |
D197G |
possibly damaging |
Het |
| Cyp2d12 |
C |
A |
15: 82,440,859 (GRCm39) |
P126T |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,862,248 (GRCm39) |
T2225A |
probably damaging |
Het |
| Edrf1 |
A |
T |
7: 133,269,311 (GRCm39) |
N1147Y |
possibly damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,287,995 (GRCm39) |
D86G |
possibly damaging |
Het |
| Eif1ad16 |
T |
C |
12: 87,985,255 (GRCm39) |
N96S |
probably benign |
Het |
| Ermap |
C |
T |
4: 119,035,747 (GRCm39) |
V414M |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,931,242 (GRCm39) |
I446T |
probably damaging |
Het |
| Fgfbp3 |
T |
C |
19: 36,896,153 (GRCm39) |
H155R |
possibly damaging |
Het |
| Folr1 |
T |
A |
7: 101,508,742 (GRCm39) |
N61I |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,035,583 (GRCm39) |
I431V |
probably benign |
Het |
| Gm5493 |
A |
T |
17: 22,969,043 (GRCm39) |
E74D |
probably benign |
Het |
| H2-Oa |
A |
G |
17: 34,313,540 (GRCm39) |
D197G |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,758,046 (GRCm39) |
E169G |
probably null |
Het |
| Il17rc |
A |
T |
6: 113,457,308 (GRCm39) |
M372L |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,565,501 (GRCm39) |
S1042G |
probably benign |
Het |
| Jchain |
A |
T |
5: 88,669,212 (GRCm39) |
V147E |
probably damaging |
Het |
| Laptm4b |
A |
G |
15: 34,283,473 (GRCm39) |
T211A |
probably benign |
Het |
| Mal2 |
T |
C |
15: 54,435,035 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,910,823 (GRCm39) |
I1071N |
probably damaging |
Het |
| Mpp2 |
T |
A |
11: 101,951,795 (GRCm39) |
Y401F |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,965,610 (GRCm39) |
T1172A |
probably benign |
Het |
| Or51q1 |
T |
A |
7: 103,629,181 (GRCm39) |
S261T |
probably damaging |
Het |
| Pcnx1 |
G |
T |
12: 81,965,381 (GRCm39) |
S516I |
probably benign |
Het |
| Pidd1 |
C |
T |
7: 141,019,708 (GRCm39) |
A685T |
probably damaging |
Het |
| Psg28 |
A |
C |
7: 18,164,365 (GRCm39) |
Y116D |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,329,458 (GRCm39) |
|
probably benign |
Het |
| Rapgefl1 |
T |
A |
11: 98,741,946 (GRCm39) |
Y637N |
probably damaging |
Het |
| Rbm25 |
T |
A |
12: 83,691,206 (GRCm39) |
M66K |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
A |
G |
3: 30,863,985 (GRCm39) |
Q89R |
probably damaging |
Het |
| Serpina6 |
T |
A |
12: 103,614,979 (GRCm39) |
Q289L |
probably benign |
Het |
| Sf3b2 |
A |
C |
19: 5,333,678 (GRCm39) |
I640S |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,250,125 (GRCm39) |
F127L |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,121,202 (GRCm39) |
D3936G |
probably damaging |
Het |
| Stac3 |
T |
A |
10: 127,343,615 (GRCm39) |
Y252* |
probably null |
Het |
| Stoml3 |
G |
A |
3: 53,414,927 (GRCm39) |
A240T |
probably damaging |
Het |
| Tanc1 |
A |
T |
2: 59,673,854 (GRCm39) |
H1653L |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,504,401 (GRCm39) |
L665* |
probably null |
Het |
| Tnr |
A |
C |
1: 159,688,840 (GRCm39) |
Q434P |
probably damaging |
Het |
| Tpgs1 |
C |
A |
10: 79,511,354 (GRCm39) |
D165E |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,819,394 (GRCm39) |
V1185A |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,249,011 (GRCm39) |
H203R |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,261,980 (GRCm39) |
M72K |
possibly damaging |
Het |
| Usp42 |
G |
A |
5: 143,700,727 (GRCm39) |
R1099W |
probably damaging |
Het |
| Zfp292 |
G |
A |
4: 34,808,883 (GRCm39) |
A1387V |
possibly damaging |
Het |
| Zfp994 |
A |
T |
17: 22,418,972 (GRCm39) |
L659* |
probably null |
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 |
|
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'- GGCCAAGATTCACTTAGTCTCTTTC -3'
(R):5'- CTTACGGGTTTATTCAGTTGATCC -3'
Sequencing Primer
(F):5'- AGGAGCTTAATCAATTCCTTATAACC -3'
(R):5'- CAGTTGATCCTTTTTGTTGCATTGGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation