Incidental Mutation 'R1403:Rnf44'
ID |
188624 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf44
|
Ensembl Gene |
ENSMUSG00000034928 |
Gene Name |
ring finger protein 44 |
Synonyms |
|
MMRRC Submission |
039465-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1403 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
54827212-54841720 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 54829821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 306
(E306K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037422]
[ENSMUST00000122935]
[ENSMUST00000125871]
[ENSMUST00000125927]
[ENSMUST00000126717]
[ENSMUST00000128257]
[ENSMUST00000150806]
[ENSMUST00000177950]
[ENSMUST00000134862]
[ENSMUST00000145397]
[ENSMUST00000146931]
[ENSMUST00000134177]
[ENSMUST00000150626]
[ENSMUST00000129881]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037422
AA Change: E306K
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000043974 Gene: ENSMUSG00000034928 AA Change: E306K
Domain | Start | End | E-Value | Type |
low complexity region
|
104 |
113 |
N/A |
INTRINSIC |
low complexity region
|
206 |
228 |
N/A |
INTRINSIC |
RING
|
298 |
338 |
3.21e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122935
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123333
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000125871
AA Change: E388K
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118474 Gene: ENSMUSG00000034928 AA Change: E388K
Domain | Start | End | E-Value | Type |
low complexity region
|
148 |
155 |
N/A |
INTRINSIC |
low complexity region
|
186 |
195 |
N/A |
INTRINSIC |
low complexity region
|
288 |
310 |
N/A |
INTRINSIC |
RING
|
380 |
420 |
3.21e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125927
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126717
|
SMART Domains |
Protein: ENSMUSP00000116043 Gene: ENSMUSG00000034928
Domain | Start | End | E-Value | Type |
low complexity region
|
185 |
194 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128038
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128257
AA Change: E306K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116850 Gene: ENSMUSG00000034928 AA Change: E306K
Domain | Start | End | E-Value | Type |
low complexity region
|
104 |
113 |
N/A |
INTRINSIC |
low complexity region
|
206 |
228 |
N/A |
INTRINSIC |
RING
|
298 |
338 |
3.21e-8 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150806
AA Change: E307K
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000123198 Gene: ENSMUSG00000034928 AA Change: E307K
Domain | Start | End | E-Value | Type |
low complexity region
|
67 |
74 |
N/A |
INTRINSIC |
low complexity region
|
105 |
114 |
N/A |
INTRINSIC |
low complexity region
|
207 |
229 |
N/A |
INTRINSIC |
RING
|
299 |
339 |
1.5e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177950
AA Change: E306K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136732 Gene: ENSMUSG00000034928 AA Change: E306K
Domain | Start | End | E-Value | Type |
low complexity region
|
104 |
113 |
N/A |
INTRINSIC |
low complexity region
|
206 |
228 |
N/A |
INTRINSIC |
RING
|
298 |
338 |
3.21e-8 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134862
AA Change: E307K
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114259 Gene: ENSMUSG00000034928 AA Change: E307K
Domain | Start | End | E-Value | Type |
low complexity region
|
67 |
74 |
N/A |
INTRINSIC |
low complexity region
|
105 |
114 |
N/A |
INTRINSIC |
low complexity region
|
207 |
229 |
N/A |
INTRINSIC |
RING
|
299 |
339 |
1.5e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144052
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145215
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145397
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146931
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134177
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150626
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129881
|
Meta Mutation Damage Score |
0.3257 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
94% (51/54) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
AC238840.3 |
T |
G |
7: 38,567,345 (GRCm39) |
I28L |
probably benign |
Het |
Acsf2 |
G |
T |
11: 94,453,700 (GRCm39) |
N420K |
probably benign |
Het |
Adam26a |
A |
T |
8: 44,022,229 (GRCm39) |
C420* |
probably null |
Het |
Afap1l1 |
T |
C |
18: 61,874,909 (GRCm39) |
Y424C |
probably damaging |
Het |
Agl |
A |
G |
3: 116,576,246 (GRCm39) |
V553A |
probably benign |
Het |
Akr7a5 |
T |
A |
4: 139,045,434 (GRCm39) |
M325K |
probably damaging |
Het |
Akt3 |
C |
T |
1: 176,958,676 (GRCm39) |
|
probably benign |
Het |
Aldh7a1 |
C |
A |
18: 56,692,341 (GRCm39) |
E87* |
probably null |
Het |
Arhgap29 |
A |
G |
3: 121,767,578 (GRCm39) |
K7E |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,466,114 (GRCm39) |
D1959E |
probably benign |
Het |
Cdc42se2 |
A |
G |
11: 54,611,192 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Chil5 |
G |
T |
3: 105,925,409 (GRCm39) |
Q171K |
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dhrs7c |
A |
T |
11: 67,702,476 (GRCm39) |
I155F |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,603,300 (GRCm39) |
|
probably null |
Het |
Ell |
T |
A |
8: 71,044,138 (GRCm39) |
|
probably benign |
Het |
Fam124b |
T |
C |
1: 80,191,056 (GRCm39) |
Y109C |
possibly damaging |
Het |
Gak |
T |
A |
5: 108,739,011 (GRCm39) |
K156M |
probably damaging |
Het |
Gm9797 |
C |
A |
10: 11,485,294 (GRCm39) |
|
noncoding transcript |
Het |
Got1l1 |
C |
G |
8: 27,690,745 (GRCm39) |
|
probably null |
Het |
Grm1 |
T |
C |
10: 10,955,879 (GRCm39) |
D135G |
probably benign |
Het |
Hrh3 |
T |
G |
2: 179,744,547 (GRCm39) |
D131A |
probably damaging |
Het |
Itpr1 |
A |
T |
6: 108,366,514 (GRCm39) |
Q979L |
probably null |
Het |
Kdm7a |
C |
A |
6: 39,128,187 (GRCm39) |
|
probably benign |
Het |
Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
Lingo2 |
A |
T |
4: 35,709,420 (GRCm39) |
C187S |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,417,760 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
T |
C |
7: 27,028,464 (GRCm39) |
N266S |
unknown |
Het |
Mgam |
G |
A |
6: 40,643,815 (GRCm39) |
S581N |
possibly damaging |
Het |
Mrgpra9 |
T |
A |
7: 46,885,386 (GRCm39) |
I94L |
probably benign |
Het |
Msantd4 |
A |
T |
9: 4,384,023 (GRCm39) |
I115F |
probably benign |
Het |
Mterf3 |
A |
G |
13: 67,077,944 (GRCm39) |
|
probably benign |
Het |
Neurl1a |
C |
A |
19: 47,242,150 (GRCm39) |
N414K |
probably damaging |
Het |
Nfkbiz |
A |
G |
16: 55,636,833 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
C |
17: 90,950,481 (GRCm39) |
L566R |
probably benign |
Het |
Nsmce1 |
A |
G |
7: 125,067,027 (GRCm39) |
|
probably benign |
Het |
Or5p59 |
T |
A |
7: 107,702,822 (GRCm39) |
I102N |
probably benign |
Het |
Prl7d1 |
A |
T |
13: 27,893,180 (GRCm39) |
F243I |
possibly damaging |
Het |
Rbm27 |
T |
C |
18: 42,450,746 (GRCm39) |
S509P |
probably damaging |
Het |
Rnf126 |
C |
T |
10: 79,596,702 (GRCm39) |
A239T |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,416,520 (GRCm39) |
R1531G |
possibly damaging |
Het |
Sf3b4 |
A |
G |
3: 96,080,953 (GRCm39) |
|
probably null |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Syt15 |
C |
A |
14: 33,943,159 (GRCm39) |
|
probably benign |
Het |
Vcan |
T |
A |
13: 89,836,603 (GRCm39) |
E2980D |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,709,268 (GRCm39) |
|
probably benign |
Het |
Vwa2 |
C |
T |
19: 56,869,570 (GRCm39) |
P2S |
unknown |
Het |
Wdr77 |
G |
A |
3: 105,874,573 (GRCm39) |
V322I |
possibly damaging |
Het |
Zfp12 |
C |
A |
5: 143,230,535 (GRCm39) |
Y287* |
probably null |
Het |
Zfp937 |
T |
A |
2: 150,080,868 (GRCm39) |
Y299* |
probably null |
Het |
|
Other mutations in Rnf44 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01837:Rnf44
|
APN |
13 |
54,829,966 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01934:Rnf44
|
APN |
13 |
54,829,763 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02629:Rnf44
|
APN |
13 |
54,830,875 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03030:Rnf44
|
APN |
13 |
54,829,803 (GRCm39) |
nonsense |
probably null |
|
R1403:Rnf44
|
UTSW |
13 |
54,829,821 (GRCm39) |
missense |
probably damaging |
0.99 |
R1654:Rnf44
|
UTSW |
13 |
54,829,592 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1745:Rnf44
|
UTSW |
13 |
54,830,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R3983:Rnf44
|
UTSW |
13 |
54,830,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R4086:Rnf44
|
UTSW |
13 |
54,830,148 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4893:Rnf44
|
UTSW |
13 |
54,829,745 (GRCm39) |
critical splice donor site |
probably null |
|
R5907:Rnf44
|
UTSW |
13 |
54,830,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5997:Rnf44
|
UTSW |
13 |
54,830,613 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6250:Rnf44
|
UTSW |
13 |
54,829,920 (GRCm39) |
splice site |
probably null |
|
R6519:Rnf44
|
UTSW |
13 |
54,829,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R7694:Rnf44
|
UTSW |
13 |
54,829,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7965:Rnf44
|
UTSW |
13 |
54,830,667 (GRCm39) |
missense |
probably benign |
0.00 |
R8725:Rnf44
|
UTSW |
13 |
54,831,826 (GRCm39) |
missense |
probably damaging |
0.97 |
X0012:Rnf44
|
UTSW |
13 |
54,830,660 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AATGCAGGGGCTTATTGCAGGG -3'
(R):5'- CAACTGCCGTCGTATCGCTTTAAC -3'
Sequencing Primer
(F):5'- GTTGGCCTGGGAGAACAC -3'
(R):5'- CGTATCGCTTTAACCCTGACAG -3'
|
Posted On |
2014-05-09 |