Incidental Mutation 'IGL02629:Rnf44'
| ID |
301199 |
| 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 # |
IGL02629
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
54827212-54841720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 54830875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 207
(Q207P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037422]
[ENSMUST00000122935]
[ENSMUST00000125871]
[ENSMUST00000125927]
[ENSMUST00000126717]
[ENSMUST00000150806]
[ENSMUST00000128257]
[ENSMUST00000134862]
[ENSMUST00000177950]
[ENSMUST00000134177]
[ENSMUST00000150626]
[ENSMUST00000146931]
[ENSMUST00000145397]
[ENSMUST00000129881]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037422
AA Change: Q126P
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000043974
Gene: ENSMUSG00000034928
AA Change: Q126P
| 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 benign
Transcript: ENSMUST00000125871
AA Change: Q208P
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118474
Gene: ENSMUSG00000034928
AA Change: Q208P
| 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 |
possibly damaging
Transcript: ENSMUST00000126717
AA Change: Q207P
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116043
Gene: ENSMUSG00000034928
AA Change: Q207P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
185 |
194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128038
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150806
AA Change: Q127P
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123198
Gene: ENSMUSG00000034928
AA Change: Q127P
| 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 benign
Transcript: ENSMUST00000128257
AA Change: Q126P
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000116850
Gene: ENSMUSG00000034928
AA Change: Q126P
| 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: ENSMUST00000134862
AA Change: Q127P
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114259
Gene: ENSMUSG00000034928
AA Change: Q127P
| 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 benign
Transcript: ENSMUST00000177950
AA Change: Q126P
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000136732
Gene: ENSMUSG00000034928
AA Change: Q126P
| 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: ENSMUST00000134177
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150626
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145397
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129881
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,445,006 (GRCm39) |
|
probably benign |
Het |
| Aadacl3 |
A |
G |
4: 144,190,199 (GRCm39) |
I34T |
possibly damaging |
Het |
| Acan |
T |
A |
7: 78,761,727 (GRCm39) |
I1979N |
possibly damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,325,121 (GRCm39) |
D701G |
probably benign |
Het |
| Arhgap31 |
C |
T |
16: 38,429,526 (GRCm39) |
G450S |
probably benign |
Het |
| Braf |
T |
C |
6: 39,665,233 (GRCm39) |
E45G |
possibly damaging |
Het |
| Btnl6 |
C |
T |
17: 34,733,442 (GRCm39) |
V178M |
probably damaging |
Het |
| Capg |
A |
T |
6: 72,532,737 (GRCm39) |
Q67L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,736,525 (GRCm39) |
N663S |
probably damaging |
Het |
| Casz1 |
T |
A |
4: 149,028,848 (GRCm39) |
S1098T |
probably benign |
Het |
| Cd55b |
A |
T |
1: 130,347,535 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,384,531 (GRCm39) |
L2583P |
probably damaging |
Het |
| Clec4a1 |
A |
C |
6: 122,909,106 (GRCm39) |
|
probably null |
Het |
| Corin |
T |
C |
5: 72,490,016 (GRCm39) |
N653S |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,414,155 (GRCm39) |
E69G |
probably benign |
Het |
| Dpy19l1 |
C |
A |
9: 24,350,009 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
T |
C |
10: 53,574,907 (GRCm39) |
N234S |
possibly damaging |
Het |
| Foxg1 |
A |
G |
12: 49,432,331 (GRCm39) |
S355G |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,686,417 (GRCm39) |
S277P |
probably damaging |
Het |
| Hadh |
T |
A |
3: 131,029,284 (GRCm39) |
D245V |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,878,134 (GRCm39) |
|
probably benign |
Het |
| Klhl18 |
A |
T |
9: 110,259,006 (GRCm39) |
|
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,875,799 (GRCm39) |
Y89C |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,817,024 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Ndufb5 |
A |
G |
3: 32,791,348 (GRCm39) |
T32A |
probably benign |
Het |
| Nub1 |
C |
T |
5: 24,908,462 (GRCm39) |
H404Y |
possibly damaging |
Het |
| Nudt6 |
A |
G |
3: 37,459,320 (GRCm39) |
Y222H |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,201 (GRCm39) |
L247* |
probably null |
Het |
| Pla2g4c |
A |
T |
7: 13,069,302 (GRCm39) |
R159* |
probably null |
Het |
| Pnpla7 |
A |
G |
2: 24,940,957 (GRCm39) |
D1103G |
probably damaging |
Het |
| Pof1b |
T |
G |
X: 111,554,934 (GRCm39) |
|
probably benign |
Het |
| Prrg2 |
C |
T |
7: 44,706,166 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
A |
G |
1: 127,837,600 (GRCm39) |
T221A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,526,541 (GRCm39) |
N1244D |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rnf123 |
A |
T |
9: 107,947,988 (GRCm39) |
|
probably benign |
Het |
| Serpina3g |
A |
G |
12: 104,207,437 (GRCm39) |
D200G |
probably damaging |
Het |
| Slc5a4a |
T |
A |
10: 75,983,413 (GRCm39) |
S17T |
unknown |
Het |
| Smc4 |
G |
T |
3: 68,933,206 (GRCm39) |
C609F |
probably damaging |
Het |
| Sync |
T |
C |
4: 129,187,744 (GRCm39) |
F259L |
probably damaging |
Het |
| Tas2r113 |
T |
C |
6: 132,870,299 (GRCm39) |
L109P |
probably damaging |
Het |
| Tjp2 |
C |
A |
19: 24,099,743 (GRCm39) |
|
probably benign |
Het |
| Tmem30a |
C |
A |
9: 79,683,531 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,522,476 (GRCm39) |
V226A |
possibly damaging |
Het |
| Upk2 |
A |
T |
9: 44,365,436 (GRCm39) |
L44Q |
probably damaging |
Het |
| Usp42 |
T |
C |
5: 143,708,909 (GRCm39) |
Y203C |
possibly damaging |
Het |
| Vmn1r28 |
A |
T |
6: 58,242,801 (GRCm39) |
I215F |
probably benign |
Het |
| Zswim2 |
A |
G |
2: 83,755,553 (GRCm39) |
V116A |
possibly damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation