Incidental Mutation 'R6855:Rnf38'
| ID |
535184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf38
|
| Ensembl Gene |
ENSMUSG00000035696 |
| Gene Name |
ring finger protein 38 |
| Synonyms |
2610202O07Rik, 1700065B19Rik, Oip1 |
| MMRRC Submission |
045024-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.588)
|
| Stock # |
R6855 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
44126210-44233789 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44149224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 41
(R41H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116642
(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 damaging
Transcript: ENSMUST00000045793
AA Change: R41H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000038477
Gene: ENSMUSG00000035696
AA Change: R41H
| 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: R73H
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000095702
Gene: ENSMUSG00000035696
AA Change: R73H
| 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 damaging
Transcript: ENSMUST00000102934
AA Change: R41H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099998
Gene: ENSMUSG00000035696
AA Change: R41H
| 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 damaging
Transcript: ENSMUST00000107836
AA Change: R41H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103467
Gene: ENSMUSG00000035696
AA Change: R41H
| 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 damaging
Transcript: ENSMUST00000128426
AA Change: R41H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119889
Gene: ENSMUSG00000035696
AA Change: R41H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136730
AA Change: R41H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116642
Gene: ENSMUSG00000035696
AA Change: R41H
| 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 damaging
Transcript: ENSMUST00000143337
AA Change: R41H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122342
Gene: ENSMUSG00000035696
AA Change: R41H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145760
AA Change: R41H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121329
Gene: ENSMUSG00000035696
AA Change: R41H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
202 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,114,844 (GRCm39) |
S228F |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,141,901 (GRCm39) |
M3062K |
possibly damaging |
Het |
| Cdh8 |
G |
C |
8: 99,916,849 (GRCm39) |
S422C |
probably damaging |
Het |
| Col15a1 |
G |
T |
4: 47,245,544 (GRCm39) |
K98N |
probably damaging |
Het |
| Cyp3a57 |
T |
A |
5: 145,309,376 (GRCm39) |
L238H |
probably damaging |
Het |
| Dchs2 |
G |
A |
3: 83,255,501 (GRCm39) |
R2399H |
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,754,694 (GRCm39) |
H1568P |
probably benign |
Het |
| Dkk2 |
T |
G |
3: 131,883,683 (GRCm39) |
C194W |
probably damaging |
Het |
| Dnm2 |
C |
T |
9: 21,387,881 (GRCm39) |
R369C |
probably damaging |
Het |
| Efcab7 |
T |
G |
4: 99,757,777 (GRCm39) |
L308* |
probably null |
Het |
| Elp2 |
T |
A |
18: 24,739,934 (GRCm39) |
N53K |
possibly damaging |
Het |
| Eml6 |
T |
C |
11: 29,701,381 (GRCm39) |
|
probably null |
Het |
| Erich3 |
G |
T |
3: 154,468,286 (GRCm39) |
E913* |
probably null |
Het |
| Fam186a |
T |
A |
15: 99,852,756 (GRCm39) |
Y154F |
unknown |
Het |
| Fhl3 |
G |
A |
4: 124,601,315 (GRCm39) |
D113N |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,216,843 (GRCm39) |
M2149K |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,268,380 (GRCm39) |
Y1251H |
probably benign |
Het |
| Ghitm |
C |
A |
14: 36,847,859 (GRCm39) |
G262W |
probably null |
Het |
| Gm14325 |
T |
A |
2: 177,474,635 (GRCm39) |
H148L |
probably damaging |
Het |
| Grxcr1 |
C |
A |
5: 68,189,437 (GRCm39) |
N69K |
possibly damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,417,679 (GRCm39) |
I846T |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,089,150 (GRCm39) |
Y1607C |
possibly damaging |
Het |
| Lrp1b |
G |
C |
2: 40,518,708 (GRCm39) |
H175D |
possibly damaging |
Het |
| Lrrc2 |
T |
A |
9: 110,782,250 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,904,151 (GRCm39) |
F291L |
probably benign |
Het |
| Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
| Nfil3 |
T |
A |
13: 53,122,641 (GRCm39) |
K88* |
probably null |
Het |
| Nit1 |
A |
C |
1: 171,171,130 (GRCm39) |
V194G |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,017,835 (GRCm39) |
M1052V |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,044,231 (GRCm39) |
T511A |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,961,794 (GRCm39) |
M459I |
probably benign |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,356,513 (GRCm39) |
N3D |
probably benign |
Het |
| Peg3 |
A |
C |
7: 6,711,797 (GRCm39) |
S1142A |
probably benign |
Het |
| Phf3 |
T |
A |
1: 30,859,204 (GRCm39) |
K959N |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,223,950 (GRCm39) |
|
probably null |
Het |
| Pigz |
A |
G |
16: 31,764,036 (GRCm39) |
I365V |
possibly damaging |
Het |
| Plec |
T |
A |
15: 76,070,818 (GRCm39) |
Q860L |
probably damaging |
Het |
| Poglut2 |
C |
A |
1: 44,149,987 (GRCm39) |
E401* |
probably null |
Het |
| Ppp5c |
T |
G |
7: 16,740,891 (GRCm39) |
D359A |
possibly damaging |
Het |
| Pvr |
C |
T |
7: 19,643,139 (GRCm39) |
A365T |
possibly damaging |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rasa3 |
A |
T |
8: 13,635,029 (GRCm39) |
L430Q |
probably damaging |
Het |
| Rims2 |
T |
G |
15: 39,208,911 (GRCm39) |
V198G |
probably benign |
Het |
| Rptn |
G |
A |
3: 93,305,558 (GRCm39) |
V964I |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,271,719 (GRCm39) |
D263G |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,819,573 (GRCm39) |
C560R |
probably damaging |
Het |
| Shisal2b |
T |
C |
13: 105,000,214 (GRCm39) |
Q3R |
probably benign |
Het |
| Sidt1 |
A |
C |
16: 44,065,706 (GRCm39) |
I734S |
probably null |
Het |
| Ssh1 |
G |
T |
5: 114,080,636 (GRCm39) |
D931E |
probably damaging |
Het |
| Thumpd2 |
C |
A |
17: 81,351,599 (GRCm39) |
R274I |
probably damaging |
Het |
| Tpi1 |
T |
C |
6: 124,789,426 (GRCm39) |
D183G |
probably damaging |
Het |
| Trnt1 |
T |
A |
6: 106,754,883 (GRCm39) |
Y205N |
probably damaging |
Het |
| Tsc22d2 |
G |
A |
3: 58,324,235 (GRCm39) |
V376M |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,402,569 (GRCm39) |
V2454A |
possibly damaging |
Het |
| Uspl1 |
C |
A |
5: 149,124,655 (GRCm39) |
S24Y |
probably damaging |
Het |
| Vmn1r58 |
A |
C |
7: 5,413,451 (GRCm39) |
W260G |
possibly damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,412 (GRCm39) |
L141F |
probably benign |
Het |
| Zfp868 |
A |
C |
8: 70,064,230 (GRCm39) |
H368Q |
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 |
|
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'- ATGACTGCATTCTGCTGGGG -3'
(R):5'- TGGTCAACAACTAAGTGACTAGAG -3'
Sequencing Primer
(F):5'- GGGGATGGGCAGCTGGATG -3'
(R):5'- GTGTGCTCTTTCATACACAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation