Incidental Mutation 'R0801:R3hdm4'
ID |
76289 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
R3hdm4
|
Ensembl Gene |
ENSMUSG00000035781 |
Gene Name |
R3H domain containing 4 |
Synonyms |
C030046I01Rik |
MMRRC Submission |
038981-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R0801 (G1)
|
Quality Score |
166 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79745886-79752764 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 79749191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151679
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045529]
[ENSMUST00000045628]
[ENSMUST00000105378]
[ENSMUST00000164705]
[ENSMUST00000165684]
[ENSMUST00000171416]
[ENSMUST00000218970]
[ENSMUST00000217976]
[ENSMUST00000218750]
[ENSMUST00000181321]
[ENSMUST00000170409]
[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 benign
Transcript: ENSMUST00000045628
|
SMART Domains |
Protein: ENSMUSP00000044570 Gene: ENSMUSG00000035781
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: ENSMUST00000171416
|
SMART Domains |
Protein: ENSMUSP00000132266 Gene: ENSMUSG00000035781
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: ENSMUST00000218970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217976
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218750
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219206
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219358
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219883
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181321
|
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: ENSMUST00000219867
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.6%
- 20x: 94.7%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030612E09Rik |
A |
G |
10: 43,050,987 (GRCm39) |
K94E |
possibly damaging |
Het |
Aldh16a1 |
A |
T |
7: 44,796,900 (GRCm39) |
C228S |
probably benign |
Het |
Arnt |
G |
T |
3: 95,401,157 (GRCm39) |
R702L |
possibly damaging |
Het |
Ccdc174 |
A |
G |
6: 91,872,313 (GRCm39) |
E314G |
possibly damaging |
Het |
Ccdc81 |
T |
C |
7: 89,536,866 (GRCm39) |
|
probably null |
Het |
Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
Cenpm |
A |
T |
15: 82,118,667 (GRCm39) |
I149N |
probably benign |
Het |
Cfap44 |
C |
T |
16: 44,242,849 (GRCm39) |
S751L |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,065,107 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
A |
G |
6: 4,531,316 (GRCm39) |
T762A |
unknown |
Het |
Crebbp |
T |
C |
16: 3,906,140 (GRCm39) |
K1621E |
probably damaging |
Het |
Cux1 |
T |
A |
5: 136,355,783 (GRCm39) |
I374L |
probably damaging |
Het |
Dgkq |
A |
T |
5: 108,808,586 (GRCm39) |
|
probably null |
Het |
Dis3l |
T |
C |
9: 64,226,436 (GRCm39) |
I365V |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,599,620 (GRCm39) |
R320G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,209,470 (GRCm39) |
N853S |
probably damaging |
Het |
Egf |
T |
C |
3: 129,496,234 (GRCm39) |
|
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,173,778 (GRCm39) |
R267* |
probably null |
Het |
Ern2 |
A |
G |
7: 121,780,085 (GRCm39) |
|
probably benign |
Het |
Ero1b |
A |
G |
13: 12,596,568 (GRCm39) |
S123G |
probably benign |
Het |
Fam13a |
G |
T |
6: 58,960,997 (GRCm39) |
N118K |
probably benign |
Het |
Gcn1 |
T |
A |
5: 115,729,065 (GRCm39) |
M792K |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Irf3 |
C |
T |
7: 44,650,058 (GRCm39) |
|
probably benign |
Het |
Map2k5 |
T |
A |
9: 63,265,261 (GRCm39) |
|
probably benign |
Het |
Mcf2l |
T |
A |
8: 13,064,020 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
T |
12: 66,533,507 (GRCm39) |
I878K |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,668,895 (GRCm39) |
S318P |
probably benign |
Het |
Or13a19 |
G |
A |
7: 139,902,831 (GRCm39) |
C73Y |
probably damaging |
Het |
Or5aq1b |
G |
A |
2: 86,902,407 (GRCm39) |
Q24* |
probably null |
Het |
Pklr |
G |
A |
3: 89,052,829 (GRCm39) |
W527* |
probably null |
Het |
Pnpla5 |
T |
C |
15: 83,998,121 (GRCm39) |
M374V |
probably benign |
Het |
Ptprn |
G |
T |
1: 75,228,909 (GRCm39) |
H835Q |
probably damaging |
Het |
Rgs8 |
T |
A |
1: 153,546,557 (GRCm39) |
C19S |
probably damaging |
Het |
Smarca4 |
C |
A |
9: 21,553,850 (GRCm39) |
Q575K |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,643,780 (GRCm39) |
F612L |
probably damaging |
Het |
Svil |
A |
G |
18: 5,099,443 (GRCm39) |
R1256G |
probably benign |
Het |
Tox4 |
T |
C |
14: 52,517,335 (GRCm39) |
S22P |
probably benign |
Het |
Ttc39d |
A |
G |
17: 80,523,644 (GRCm39) |
Y101C |
probably damaging |
Het |
Usb1 |
T |
C |
8: 96,060,168 (GRCm39) |
|
probably null |
Het |
Vps13a |
T |
C |
19: 16,664,020 (GRCm39) |
|
probably benign |
Het |
Vps26a |
G |
A |
10: 62,294,857 (GRCm39) |
|
probably benign |
Het |
Zfp638 |
T |
A |
6: 83,949,220 (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 |
|
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 |
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'- TTTAACACGAAGTGCAGATGAGCCC -3'
(R):5'- CTTGCTGTGAAACACCCCGTACTG -3'
Sequencing Primer
(F):5'- CCCAGGATCTGGCAGCATATAG -3'
(R):5'- TAGGAGTTCAGCAATGCAGG -3'
|
Posted On |
2013-10-16 |