Incidental Mutation 'IGL02230:R3hdm4'
| ID |
285646 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
R3hdm4
|
| Ensembl Gene |
ENSMUSG00000035781 |
| Gene Name |
R3H domain containing 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL02230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79910052-79921208 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 79912091 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 206
(A206S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045529]
[ENSMUST00000045628]
[ENSMUST00000105378]
[ENSMUST00000164705]
[ENSMUST00000165684]
[ENSMUST00000166964]
[ENSMUST00000170409]
[ENSMUST00000171416]
[ENSMUST00000181321]
[ENSMUST00000217976]
[ENSMUST00000218750]
[ENSMUST00000218970]
[ENSMUST00000219867]
|
| 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 |
probably damaging
Transcript: ENSMUST00000045628
AA Change: A206S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781
AA Change: A206S
| 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 |
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 |
probably damaging
Transcript: ENSMUST00000171416
AA Change: A206S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781
AA Change: A206S
| 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: ENSMUST00000181321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218750
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219867
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,171,830 |
T727S |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,433,996 |
I374F |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,152,194 |
N399S |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,623,928 |
E317G |
probably damaging |
Het |
| Gm10030 |
T |
A |
9: 111,006,390 |
|
noncoding transcript |
Het |
| Gm4884 |
A |
T |
7: 41,043,405 |
Q266L |
probably damaging |
Het |
| Gpr45 |
C |
A |
1: 43,032,656 |
A153E |
probably damaging |
Het |
| Hc |
A |
G |
2: 35,013,670 |
F991L |
probably benign |
Het |
| Hif1a |
T |
G |
12: 73,932,450 |
D249E |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 94,045,398 |
L194P |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,518,645 |
S947P |
probably damaging |
Het |
| Kng1 |
G |
T |
16: 23,060,494 |
|
probably null |
Het |
| Lpp |
C |
T |
16: 24,762,145 |
R204W |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,830,880 |
K245N |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,655,423 |
R335* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,377,361 |
|
probably benign |
Het |
| Ncbp1 |
C |
A |
4: 46,165,272 |
N528K |
probably benign |
Het |
| Olfr57 |
T |
A |
10: 79,035,042 |
M82K |
probably damaging |
Het |
| Olfr714 |
A |
G |
7: 107,074,493 |
I222V |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,881,206 |
L364P |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 91,988,026 |
I589T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,110,728 |
S764N |
probably damaging |
Het |
| Sdr16c5 |
T |
C |
4: 4,016,354 |
E24G |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,709,034 |
I815V |
possibly damaging |
Het |
| Serpina16 |
A |
G |
12: 103,675,302 |
Y55H |
probably damaging |
Het |
| Sirt2 |
C |
T |
7: 28,778,946 |
R83C |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,681,971 |
|
probably null |
Het |
| Stmn1 |
A |
G |
4: 134,472,913 |
E99G |
probably damaging |
Het |
| Tas2r103 |
T |
C |
6: 133,037,056 |
I16V |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,619,627 |
K334E |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,581,369 |
I876T |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,317,563 |
V289D |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,396,810 |
R265* |
probably null |
Het |
|
| Other mutations in R3hdm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4472001:R3hdm4
|
UTSW |
10 |
79913555 |
critical splice donor site |
probably null |
|
|
R0801:R3hdm4
|
UTSW |
10 |
79913357 |
unclassified |
probably benign |
|
|
R1167:R3hdm4
|
UTSW |
10 |
79912073 |
critical splice donor site |
probably null |
|
|
R3622:R3hdm4
|
UTSW |
10 |
79912681 |
missense |
possibly damaging |
0.96 |
|
R5264:R3hdm4
|
UTSW |
10 |
79913341 |
missense |
probably benign |
0.19 |
|
R5268:R3hdm4
|
UTSW |
10 |
79912458 |
missense |
possibly damaging |
0.69 |
|
R5269:R3hdm4
|
UTSW |
10 |
79912458 |
missense |
possibly damaging |
0.69 |
|
R5357:R3hdm4
|
UTSW |
10 |
79912458 |
missense |
possibly damaging |
0.69 |
|
R5358:R3hdm4
|
UTSW |
10 |
79912458 |
missense |
possibly damaging |
0.69 |
|
R5360:R3hdm4
|
UTSW |
10 |
79912458 |
missense |
possibly damaging |
0.69 |
|
R5362:R3hdm4
|
UTSW |
10 |
79912458 |
missense |
possibly damaging |
0.69 |
|
R5363:R3hdm4
|
UTSW |
10 |
79912458 |
missense |
possibly damaging |
0.69 |
|
R5434:R3hdm4
|
UTSW |
10 |
79912458 |
missense |
possibly damaging |
0.69 |
|
R5435:R3hdm4
|
UTSW |
10 |
79912458 |
missense |
possibly damaging |
0.69 |
|
R5442:R3hdm4
|
UTSW |
10 |
79912458 |
missense |
possibly damaging |
0.69 |
|
R5534:R3hdm4
|
UTSW |
10 |
79912458 |
missense |
possibly damaging |
0.69 |
|
R5921:R3hdm4
|
UTSW |
10 |
79913619 |
missense |
probably damaging |
1.00 |
|
R6041:R3hdm4
|
UTSW |
10 |
79913661 |
missense |
possibly damaging |
0.46 |
|
R7391:R3hdm4
|
UTSW |
10 |
79911109 |
missense |
probably benign |
0.00 |
|
R7496:R3hdm4
|
UTSW |
10 |
79916874 |
missense |
probably damaging |
0.99 |
|
R7913:R3hdm4
|
UTSW |
10 |
79911945 |
missense |
probably damaging |
1.00 |
|
R7983:R3hdm4
|
UTSW |
10 |
79912723 |
missense |
probably damaging |
1.00 |
|
R9329:R3hdm4
|
UTSW |
10 |
79913559 |
missense |
probably damaging |
1.00 |
|
R9706:R3hdm4
|
UTSW |
10 |
79916821 |
critical splice donor site |
probably null |
|
|
X0022:R3hdm4
|
UTSW |
10 |
79913652 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation