Incidental Mutation 'R5264:R3hdm4'
ID |
401610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
R3hdm4
|
Ensembl Gene |
ENSMUSG00000035781 |
Gene Name |
R3H domain containing 4 |
Synonyms |
C030046I01Rik |
MMRRC Submission |
042832-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R5264 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79745886-79752764 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79749175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 75
(Y75H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132266
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045529]
[ENSMUST00000045628]
[ENSMUST00000105378]
[ENSMUST00000164705]
[ENSMUST00000165684]
[ENSMUST00000170409]
[ENSMUST00000171416]
[ENSMUST00000218750]
[ENSMUST00000218970]
[ENSMUST00000219867]
[ENSMUST00000217976]
[ENSMUST00000181321]
|
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 benign
Transcript: ENSMUST00000045628
AA Change: Y75H
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000044570 Gene: ENSMUSG00000035781 AA Change: Y75H
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: 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 benign
Transcript: ENSMUST00000171416
AA Change: Y75H
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000132266 Gene: ENSMUSG00000035781 AA Change: Y75H
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: ENSMUST00000218750
AA Change: Y65H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218970
AA Change: V23A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219358
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219867
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219206
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217976
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181321
|
Meta Mutation Damage Score |
0.2366 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ckap2l |
A |
T |
2: 129,127,299 (GRCm39) |
M293K |
probably benign |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Dnai7 |
A |
G |
6: 145,127,502 (GRCm39) |
V469A |
probably benign |
Het |
Efcab7 |
G |
A |
4: 99,735,372 (GRCm39) |
R132H |
probably benign |
Het |
Elovl4 |
T |
C |
9: 83,662,817 (GRCm39) |
T239A |
probably benign |
Het |
Fank1 |
A |
G |
7: 133,481,621 (GRCm39) |
D240G |
probably damaging |
Het |
Fbln5 |
T |
A |
12: 101,723,703 (GRCm39) |
M346L |
possibly damaging |
Het |
Fbxl21 |
T |
C |
13: 56,680,136 (GRCm39) |
F174L |
probably benign |
Het |
Gns |
A |
G |
10: 121,216,090 (GRCm39) |
D279G |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,555,265 (GRCm39) |
V2502A |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Large2 |
A |
G |
2: 92,205,088 (GRCm39) |
|
probably benign |
Het |
Lrrc8b |
A |
T |
5: 105,628,118 (GRCm39) |
I155F |
probably damaging |
Het |
Morc2b |
T |
C |
17: 33,357,353 (GRCm39) |
I140V |
probably benign |
Het |
Mrgprb5 |
G |
A |
7: 47,817,796 (GRCm39) |
S313L |
probably benign |
Het |
Nectin4 |
A |
T |
1: 171,211,273 (GRCm39) |
T266S |
probably benign |
Het |
Nsd1 |
C |
T |
13: 55,395,159 (GRCm39) |
A1023V |
possibly damaging |
Het |
Or51a39 |
T |
C |
7: 102,363,558 (GRCm39) |
T21A |
probably benign |
Het |
Paqr8 |
A |
G |
1: 21,005,332 (GRCm39) |
H162R |
possibly damaging |
Het |
Pclo |
G |
A |
5: 14,726,937 (GRCm39) |
|
probably benign |
Het |
Phactr4 |
T |
C |
4: 132,098,293 (GRCm39) |
D325G |
probably damaging |
Het |
Plcg2 |
A |
T |
8: 118,361,532 (GRCm39) |
E1255V |
possibly damaging |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Polr3b |
A |
T |
10: 84,503,280 (GRCm39) |
Q399L |
probably benign |
Het |
Ppp1r35 |
G |
A |
5: 137,778,286 (GRCm39) |
|
probably benign |
Het |
Psd3 |
A |
T |
8: 68,166,377 (GRCm39) |
D919E |
probably benign |
Het |
Ptgs2 |
A |
G |
1: 149,978,481 (GRCm39) |
T198A |
possibly damaging |
Het |
Ptpn14 |
T |
C |
1: 189,564,997 (GRCm39) |
|
probably null |
Het |
Ptprk |
A |
G |
10: 28,461,582 (GRCm39) |
Y39C |
probably damaging |
Het |
Rsph4a |
A |
G |
10: 33,785,379 (GRCm39) |
Y430C |
probably damaging |
Het |
Samd12 |
C |
T |
15: 53,723,669 (GRCm39) |
C8Y |
probably damaging |
Het |
Sema3e |
A |
C |
5: 14,276,662 (GRCm39) |
L314F |
probably damaging |
Het |
Sis |
A |
G |
3: 72,857,089 (GRCm39) |
F401L |
probably damaging |
Het |
Smoc1 |
T |
A |
12: 81,151,474 (GRCm39) |
S64T |
probably damaging |
Het |
Socs5 |
T |
A |
17: 87,441,769 (GRCm39) |
H236Q |
probably damaging |
Het |
Spaca1 |
C |
A |
4: 34,049,863 (GRCm39) |
R45L |
possibly damaging |
Het |
Spag6 |
A |
G |
2: 18,750,324 (GRCm39) |
K457E |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,116,934 (GRCm39) |
|
probably null |
Het |
Tcp11l2 |
A |
G |
10: 84,449,524 (GRCm39) |
I496M |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,725,535 (GRCm39) |
I648V |
possibly damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,801,453 (GRCm39) |
Y161C |
probably damaging |
Het |
Wnt5b |
A |
T |
6: 119,410,813 (GRCm39) |
V171E |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,648,219 (GRCm39) |
K933E |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,676,198 (GRCm39) |
E373G |
probably damaging |
Het |
Zfp617 |
A |
G |
8: 72,686,885 (GRCm39) |
Y405C |
probably damaging |
Het |
Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
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 |
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 |
R5360: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'- CAAATGGGTCCTTTAACACGAAG -3'
(R):5'- TGCTGTGAAACACCCCGTAC -3'
Sequencing Primer
(F):5'- TGCAGATGAGCCCAGGATCTG -3'
(R):5'- TAGATGGGGCTCTAGAGACT -3'
|
Posted On |
2016-07-06 |