Incidental Mutation 'R5360:R3hdm4'
| ID |
424294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hdm4
|
| Ensembl Gene |
ENSMUSG00000035781 |
| Gene Name |
R3H domain containing 4 |
| Synonyms |
C030046I01Rik |
| MMRRC Submission |
042939-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5360 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79745886-79752764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79748292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 162
(E162K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045529]
[ENSMUST00000045628]
[ENSMUST00000105378]
[ENSMUST00000164705]
[ENSMUST00000165684]
[ENSMUST00000166964]
[ENSMUST00000171416]
[ENSMUST00000217976]
[ENSMUST00000218750]
[ENSMUST00000219867]
[ENSMUST00000181321]
[ENSMUST00000218970]
[ENSMUST00000170409]
|
| AlphaFold |
Q4VBF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045529
|
| SMART Domains |
Protein: ENSMUSP00000040516
Gene: ENSMUSG00000035773
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
53 |
338 |
1.7e-6 |
PFAM |
|
Pfam:7tm_1
|
59 |
323 |
7e-49 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045628
AA Change: E162K
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781
AA Change: E162K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
Pfam:R3H-assoc
|
43 |
177 |
1.2e-35 |
PFAM |
|
Pfam:R3H
|
181 |
244 |
7.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105378
|
| SMART Domains |
Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
WD40
|
94 |
133 |
1.05e-7 |
SMART |
|
Blast:WD40
|
143 |
169 |
4e-8 |
BLAST |
|
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
|
WD40
|
226 |
267 |
1.53e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163125
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164705
|
| SMART Domains |
Protein: ENSMUSP00000129229
Gene: ENSMUSG00000013833
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
10 |
49 |
1.05e-7 |
SMART |
|
Pfam:Med16
|
59 |
172 |
6.5e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165684
|
| SMART Domains |
Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
|
WD40
|
95 |
134 |
1.05e-7 |
SMART |
|
Blast:WD40
|
144 |
170 |
4e-8 |
BLAST |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
WD40
|
227 |
268 |
1.53e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166964
|
| SMART Domains |
Protein: ENSMUSP00000128463
Gene: ENSMUSG00000013833
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
59 |
98 |
1.05e-7 |
SMART |
|
Pfam:Med16
|
108 |
162 |
2.2e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171416
AA Change: E162K
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781
AA Change: E162K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
Pfam:R3H-assoc
|
43 |
177 |
4.9e-39 |
PFAM |
|
Pfam:R3H
|
183 |
243 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218750
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219206
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170409
|
| SMART Domains |
Protein: ENSMUSP00000126729
Gene: ENSMUSG00000013833
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
10 |
49 |
1.05e-7 |
SMART |
|
Pfam:Med16
|
59 |
105 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219883
|
| Meta Mutation Damage Score |
0.1452 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
A |
19: 55,279,592 (GRCm39) |
Y443* |
probably null |
Het |
| Aox3 |
C |
T |
1: 58,185,667 (GRCm39) |
T331M |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,170,967 (GRCm39) |
R1598H |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,106,436 (GRCm39) |
|
probably null |
Het |
| Brpf3 |
A |
T |
17: 29,029,536 (GRCm39) |
M499L |
probably benign |
Het |
| Cacnb1 |
A |
T |
11: 97,909,097 (GRCm39) |
|
probably null |
Het |
| Cep295 |
A |
G |
9: 15,238,029 (GRCm39) |
S1899P |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,446,595 (GRCm39) |
Y748H |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,532,599 (GRCm39) |
Y2532F |
probably damaging |
Het |
| Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,474,011 (GRCm39) |
D1028G |
probably damaging |
Het |
| Eif1ad16 |
A |
C |
12: 87,985,265 (GRCm39) |
L93V |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,800,104 (GRCm39) |
H7Q |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gabra5 |
C |
T |
7: 57,140,533 (GRCm39) |
G55R |
probably damaging |
Het |
| Gdf9 |
T |
A |
11: 53,328,034 (GRCm39) |
F330Y |
probably benign |
Het |
| Gimap8 |
T |
C |
6: 48,633,236 (GRCm39) |
S352P |
probably damaging |
Het |
| Gm4952 |
A |
T |
19: 12,600,993 (GRCm39) |
H71L |
probably benign |
Het |
| Gnaq |
G |
A |
19: 16,110,790 (GRCm39) |
R34H |
probably benign |
Het |
| Hebp2 |
T |
C |
10: 18,420,055 (GRCm39) |
D126G |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,453,464 (GRCm39) |
D601G |
possibly damaging |
Het |
| Hook2 |
T |
C |
8: 85,728,033 (GRCm39) |
Y577H |
probably damaging |
Het |
| Igfals |
A |
G |
17: 25,099,067 (GRCm39) |
T53A |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,222,968 (GRCm39) |
D123G |
probably damaging |
Het |
| Ilrun |
A |
T |
17: 28,013,020 (GRCm39) |
I59N |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mdm4 |
A |
T |
1: 132,919,396 (GRCm39) |
*490K |
probably null |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Neurl2 |
C |
A |
2: 164,675,021 (GRCm39) |
A114S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,876,075 (GRCm39) |
T563A |
probably damaging |
Het |
| Or8g32 |
T |
G |
9: 39,305,698 (GRCm39) |
F204V |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pdlim1 |
A |
T |
19: 40,218,993 (GRCm39) |
S213T |
probably damaging |
Het |
| Pitx1 |
T |
C |
13: 55,976,291 (GRCm39) |
I123V |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,829,204 (GRCm39) |
N1013D |
probably benign |
Het |
| Pla2g2c |
T |
A |
4: 138,461,656 (GRCm39) |
Y42N |
possibly damaging |
Het |
| Polr2b |
G |
A |
5: 77,496,993 (GRCm39) |
A1168T |
possibly damaging |
Het |
| Ppp2r2a |
G |
A |
14: 67,254,020 (GRCm39) |
R383* |
probably null |
Het |
| Prl7a2 |
C |
T |
13: 27,843,143 (GRCm39) |
R220H |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,279,867 (GRCm39) |
V454A |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,732,665 (GRCm39) |
T307A |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,596,786 (GRCm39) |
L188P |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,016,726 (GRCm39) |
N2167S |
probably benign |
Het |
| Spag5 |
G |
A |
11: 78,205,588 (GRCm39) |
E680K |
probably damaging |
Het |
| Spata6 |
A |
G |
4: 111,680,026 (GRCm39) |
Y428C |
possibly damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,291,660 (GRCm39) |
D47G |
probably benign |
Het |
| Trp53 |
T |
C |
11: 69,479,566 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
| Ttc39b |
T |
C |
4: 83,180,084 (GRCm39) |
D103G |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,750,322 (GRCm39) |
W3576G |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 19,972,912 (GRCm39) |
M22K |
probably damaging |
Het |
|
| Other mutations in R3hdm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02230:R3hdm4
|
APN |
10 |
79,747,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4472001:R3hdm4
|
UTSW |
10 |
79,749,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0801:R3hdm4
|
UTSW |
10 |
79,749,191 (GRCm39) |
unclassified |
probably benign |
|
|
R1167:R3hdm4
|
UTSW |
10 |
79,747,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3622:R3hdm4
|
UTSW |
10 |
79,748,515 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5264:R3hdm4
|
UTSW |
10 |
79,749,175 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5268:R3hdm4
|
UTSW |
10 |
79,748,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5269:R3hdm4
|
UTSW |
10 |
79,748,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5357:R3hdm4
|
UTSW |
10 |
79,748,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5358:R3hdm4
|
UTSW |
10 |
79,748,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5362:R3hdm4
|
UTSW |
10 |
79,748,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5363:R3hdm4
|
UTSW |
10 |
79,748,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5434:R3hdm4
|
UTSW |
10 |
79,748,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5435:R3hdm4
|
UTSW |
10 |
79,748,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5442:R3hdm4
|
UTSW |
10 |
79,748,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5534:R3hdm4
|
UTSW |
10 |
79,748,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5921:R3hdm4
|
UTSW |
10 |
79,749,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:R3hdm4
|
UTSW |
10 |
79,749,495 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7391:R3hdm4
|
UTSW |
10 |
79,746,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7496:R3hdm4
|
UTSW |
10 |
79,752,708 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7913:R3hdm4
|
UTSW |
10 |
79,747,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7983:R3hdm4
|
UTSW |
10 |
79,748,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9329:R3hdm4
|
UTSW |
10 |
79,749,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:R3hdm4
|
UTSW |
10 |
79,752,655 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0022:R3hdm4
|
UTSW |
10 |
79,749,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACATTCATTTCCACTGCCCAG -3'
(R):5'- CGTTACTTGGAGGATGAGAGCC -3'
Sequencing Primer
(F):5'- AGTCCTCTCCTTCCTAACCACTG -3'
(R):5'- CCAGGGCAAGCGGAGAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation