Incidental Mutation 'R5362:R3hdm4'
ID |
422882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
R3hdm4
|
Ensembl Gene |
ENSMUSG00000035781 |
Gene Name |
R3H domain containing 4 |
Synonyms |
C030046I01Rik |
MMRRC Submission |
043264-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R5362 (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: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
A |
T |
6: 133,271,445 (GRCm39) |
D163V |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ankrd17 |
G |
A |
5: 90,413,404 (GRCm39) |
A1170V |
probably damaging |
Het |
Ano1 |
A |
C |
7: 144,202,337 (GRCm39) |
|
probably benign |
Het |
Atl2 |
T |
C |
17: 80,168,890 (GRCm39) |
N37D |
probably damaging |
Het |
C2cd5 |
T |
C |
6: 143,028,969 (GRCm39) |
Y90C |
probably damaging |
Het |
Carm1 |
A |
G |
9: 21,498,655 (GRCm39) |
N499S |
probably benign |
Het |
Ccdc47 |
G |
A |
11: 106,099,039 (GRCm39) |
|
probably null |
Het |
Cd300lf |
G |
T |
11: 115,007,940 (GRCm39) |
L251M |
probably damaging |
Het |
Cfap74 |
A |
G |
4: 155,522,623 (GRCm39) |
S670G |
probably damaging |
Het |
Clec4a1 |
A |
G |
6: 122,909,196 (GRCm39) |
D188G |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,295,760 (GRCm39) |
|
probably benign |
Het |
Csn2 |
T |
A |
5: 87,842,508 (GRCm39) |
H165L |
probably benign |
Het |
Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
Dlx3 |
T |
C |
11: 95,011,326 (GRCm39) |
V60A |
possibly damaging |
Het |
Elp1 |
A |
C |
4: 56,778,969 (GRCm39) |
I616S |
probably damaging |
Het |
Fam221a |
A |
G |
6: 49,353,049 (GRCm39) |
H21R |
probably damaging |
Het |
Foxj3 |
T |
A |
4: 119,477,340 (GRCm39) |
H349Q |
unknown |
Het |
Gm37240 |
G |
A |
3: 84,423,000 (GRCm39) |
T123I |
probably damaging |
Het |
Gpc1 |
A |
T |
1: 92,782,615 (GRCm39) |
T121S |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Itga2b |
A |
G |
11: 102,351,961 (GRCm39) |
V512A |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,002,675 (GRCm39) |
Y144C |
probably damaging |
Het |
Izumo3 |
A |
T |
4: 92,035,037 (GRCm39) |
I60K |
possibly damaging |
Het |
Kif9 |
G |
A |
9: 110,319,012 (GRCm39) |
V159M |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,265,914 (GRCm39) |
D229G |
probably damaging |
Het |
Nkpd1 |
G |
A |
7: 19,257,193 (GRCm39) |
G324D |
probably damaging |
Het |
Nrp2 |
T |
A |
1: 62,808,221 (GRCm39) |
Y617N |
probably benign |
Het |
Ocm |
T |
C |
5: 143,960,674 (GRCm39) |
D91G |
probably damaging |
Het |
Or4l15 |
A |
G |
14: 50,197,986 (GRCm39) |
L181P |
possibly damaging |
Het |
Or52ad1 |
A |
G |
7: 102,995,454 (GRCm39) |
V227A |
probably damaging |
Het |
Or52n2b |
A |
G |
7: 104,565,834 (GRCm39) |
I223T |
probably damaging |
Het |
Or6c70 |
T |
C |
10: 129,710,422 (GRCm39) |
E68G |
probably damaging |
Het |
Pex5l |
G |
A |
3: 33,047,065 (GRCm39) |
A295V |
probably damaging |
Het |
Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
Pou2f2 |
G |
A |
7: 24,792,320 (GRCm39) |
P512S |
probably benign |
Het |
Prpf8 |
G |
A |
11: 75,397,236 (GRCm39) |
R2023Q |
possibly damaging |
Het |
Ptprd |
A |
T |
4: 76,047,050 (GRCm39) |
S399R |
probably damaging |
Het |
Qrich2 |
T |
C |
11: 116,337,976 (GRCm39) |
Y1889C |
probably damaging |
Het |
Ranbp6 |
G |
T |
19: 29,789,128 (GRCm39) |
T408K |
probably benign |
Het |
Scn7a |
G |
A |
2: 66,530,342 (GRCm39) |
R668C |
probably damaging |
Het |
Sertad4 |
T |
C |
1: 192,529,414 (GRCm39) |
N134S |
probably damaging |
Het |
Spg11 |
G |
T |
2: 121,891,481 (GRCm39) |
N1963K |
probably damaging |
Het |
Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
Top2a |
T |
C |
11: 98,909,738 (GRCm39) |
N120S |
probably damaging |
Het |
Trappc9 |
C |
T |
15: 72,930,066 (GRCm39) |
E97K |
possibly damaging |
Het |
Vmn1r91 |
A |
T |
7: 19,835,386 (GRCm39) |
T102S |
probably benign |
Het |
Vmn2r99 |
G |
T |
17: 19,599,601 (GRCm39) |
M428I |
probably benign |
Het |
Zfp62 |
A |
T |
11: 49,107,439 (GRCm39) |
H510L |
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 |
R5360: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'- CGTTACTTGGAGGATGAGAGC -3'
Sequencing Primer
(F):5'- AGTCCTCTCCTTCCTAACCACTG -3'
(R):5'- CCAGGGCAAGCGGAGAC -3'
|
Posted On |
2016-08-04 |