Incidental Mutation 'IGL01837:Rnf44'
| ID |
154988 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf44
|
| Ensembl Gene |
ENSMUSG00000034928 |
| Gene Name |
ring finger protein 44 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01837
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
54827212-54841720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54829966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 366
(Y366H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037422]
[ENSMUST00000122935]
[ENSMUST00000125871]
[ENSMUST00000125927]
[ENSMUST00000126717]
[ENSMUST00000150806]
[ENSMUST00000134862]
[ENSMUST00000177950]
[ENSMUST00000128257]
[ENSMUST00000146931]
[ENSMUST00000145397]
[ENSMUST00000129881]
[ENSMUST00000134177]
[ENSMUST00000150626]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037422
AA Change: Y284H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000043974
Gene: ENSMUSG00000034928
AA Change: Y284H
| 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: Y366H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118474
Gene: ENSMUSG00000034928
AA Change: Y366H
| 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: ENSMUST00000150806
AA Change: Y285H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123198
Gene: ENSMUSG00000034928
AA Change: Y285H
| 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: ENSMUST00000134862
AA Change: Y285H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114259
Gene: ENSMUSG00000034928
AA Change: Y285H
| 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: Y284H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136732
Gene: ENSMUSG00000034928
AA Change: Y284H
| 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 damaging
Transcript: ENSMUST00000128257
AA Change: Y284H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116850
Gene: ENSMUSG00000034928
AA Change: Y284H
| 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 |
noncoding transcript
Transcript: ENSMUST00000145215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144052
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145397
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134177
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150626
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,627,671 (GRCm39) |
F1372L |
probably damaging |
Het |
| Alcam |
T |
A |
16: 52,073,531 (GRCm39) |
N339I |
probably benign |
Het |
| Ankrd35 |
A |
C |
3: 96,587,982 (GRCm39) |
D141A |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,150,492 (GRCm39) |
I1820V |
probably benign |
Het |
| Ccp110 |
T |
A |
7: 118,324,684 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,946,419 (GRCm39) |
D954E |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,313,363 (GRCm39) |
I1347F |
possibly damaging |
Het |
| Ddx10 |
A |
G |
9: 53,140,498 (GRCm39) |
I301T |
probably benign |
Het |
| Defb23 |
T |
A |
2: 152,301,294 (GRCm39) |
M93L |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,970,565 (GRCm39) |
|
probably null |
Het |
| Dok3 |
T |
C |
13: 55,671,383 (GRCm39) |
E396G |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,727,055 (GRCm39) |
M1318L |
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,343,167 (GRCm39) |
|
probably benign |
Het |
| Gm11992 |
A |
T |
11: 9,011,266 (GRCm39) |
R236W |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,734,452 (GRCm39) |
I1513V |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,951,759 (GRCm39) |
E25G |
possibly damaging |
Het |
| Ighg2b |
C |
T |
12: 113,270,065 (GRCm39) |
E318K |
unknown |
Het |
| Itga4 |
T |
C |
2: 79,145,349 (GRCm39) |
S722P |
probably damaging |
Het |
| Kirrel3 |
G |
A |
9: 34,946,224 (GRCm39) |
R617H |
probably damaging |
Het |
| Mboat1 |
A |
T |
13: 30,425,166 (GRCm39) |
H409L |
possibly damaging |
Het |
| Naa15 |
A |
T |
3: 51,351,369 (GRCm39) |
K180* |
probably null |
Het |
| Nccrp1 |
A |
G |
7: 28,246,191 (GRCm39) |
S124P |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,573,338 (GRCm39) |
I92T |
probably damaging |
Het |
| Or13a28 |
G |
A |
7: 140,218,124 (GRCm39) |
C170Y |
probably damaging |
Het |
| Or6d14 |
C |
A |
6: 116,533,807 (GRCm39) |
Y140* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,356,798 (GRCm39) |
D741G |
possibly damaging |
Het |
| Plcb2 |
C |
T |
2: 118,542,407 (GRCm39) |
|
probably null |
Het |
| Pramel19 |
A |
G |
4: 101,798,650 (GRCm39) |
E207G |
probably damaging |
Het |
| Prm2 |
G |
A |
16: 10,609,775 (GRCm39) |
|
probably null |
Het |
| R3hdm1 |
C |
T |
1: 128,114,497 (GRCm39) |
Q184* |
probably null |
Het |
| Rgl1 |
A |
T |
1: 152,424,901 (GRCm39) |
N359K |
probably damaging |
Het |
| Rpap2 |
G |
A |
5: 107,773,835 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,631,665 (GRCm39) |
N2120S |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,825,027 (GRCm39) |
|
probably benign |
Het |
| Sipa1 |
G |
T |
19: 5,702,099 (GRCm39) |
T937K |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,730,157 (GRCm39) |
D707E |
probably damaging |
Het |
| Tas2r109 |
T |
C |
6: 132,957,477 (GRCm39) |
N151S |
probably benign |
Het |
| Try5 |
T |
C |
6: 41,290,358 (GRCm39) |
N42S |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,732,338 (GRCm39) |
|
probably benign |
Het |
| Utp14b |
A |
G |
1: 78,642,636 (GRCm39) |
E178G |
probably damaging |
Het |
|
| Other mutations in Rnf44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation