Incidental Mutation 'R3622:R3hdm4'
ID |
268680 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
R3hdm4
|
Ensembl Gene |
ENSMUSG00000035781 |
Gene Name |
R3H domain containing 4 |
Synonyms |
C030046I01Rik |
MMRRC Submission |
040677-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R3622 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79745886-79752764 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79748515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 143
(R143H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132266
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045529]
[ENSMUST00000045628]
[ENSMUST00000105378]
[ENSMUST00000164705]
[ENSMUST00000165684]
[ENSMUST00000166964]
[ENSMUST00000171416]
[ENSMUST00000217976]
[ENSMUST00000218750]
[ENSMUST00000170409]
[ENSMUST00000181321]
[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 |
possibly damaging
Transcript: ENSMUST00000045628
AA Change: R143H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000044570 Gene: ENSMUSG00000035781 AA Change: R143H
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: R143H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000132266 Gene: ENSMUSG00000035781 AA Change: R143H
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 |
noncoding transcript
Transcript: ENSMUST00000219883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219358
|
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: ENSMUST00000219206
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181321
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219867
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
A |
7: 119,950,036 (GRCm39) |
Y503* |
probably null |
Het |
Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
Dpf1 |
G |
A |
7: 29,015,631 (GRCm39) |
|
probably null |
Het |
Elp1 |
A |
T |
4: 56,759,925 (GRCm39) |
|
probably null |
Het |
Grid2ip |
T |
C |
5: 143,371,774 (GRCm39) |
S666P |
probably damaging |
Het |
Gucy2e |
T |
A |
11: 69,115,877 (GRCm39) |
E835V |
probably damaging |
Het |
Hdac5 |
G |
A |
11: 102,086,644 (GRCm39) |
P120S |
probably benign |
Het |
Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,405,595 (GRCm39) |
|
probably benign |
Het |
Oma1 |
T |
C |
4: 103,223,288 (GRCm39) |
I491T |
probably benign |
Het |
Or1e30 |
A |
G |
11: 73,678,567 (GRCm39) |
T268A |
probably benign |
Het |
Or5ak24 |
C |
T |
2: 85,260,837 (GRCm39) |
C112Y |
probably benign |
Het |
Or5b107 |
T |
A |
19: 13,143,020 (GRCm39) |
M214K |
probably benign |
Het |
Or8b48 |
A |
G |
9: 38,492,792 (GRCm39) |
Y73C |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
Phka2 |
T |
A |
X: 159,327,291 (GRCm39) |
Y334* |
probably null |
Het |
Plin4 |
G |
T |
17: 56,411,112 (GRCm39) |
T973K |
possibly damaging |
Het |
Rps18 |
G |
C |
17: 34,171,247 (GRCm39) |
|
probably null |
Het |
Samd9l |
A |
T |
6: 3,374,032 (GRCm39) |
C1076* |
probably null |
Het |
Scml4 |
T |
C |
10: 42,806,607 (GRCm39) |
|
probably benign |
Het |
Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,567,371 (GRCm39) |
V275A |
probably benign |
Het |
Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
Srsf9 |
C |
T |
5: 115,468,571 (GRCm39) |
A69V |
probably damaging |
Het |
Stfa2 |
A |
G |
16: 36,224,433 (GRCm39) |
Y90H |
probably damaging |
Het |
Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
Tnrc6c |
C |
T |
11: 117,640,451 (GRCm39) |
R1414C |
probably damaging |
Het |
Tyk2 |
A |
T |
9: 21,038,606 (GRCm39) |
C8S |
probably damaging |
Het |
Upp2 |
G |
A |
2: 58,680,128 (GRCm39) |
R300Q |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,593,855 (GRCm39) |
|
probably benign |
Het |
Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
Vmn2r116 |
A |
G |
17: 23,605,025 (GRCm39) |
S113G |
probably benign |
Het |
Vps53 |
A |
C |
11: 76,008,609 (GRCm39) |
V237G |
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 |
|
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'- TGAAGACAGGGTCCTCTGTGAAG -3'
(R):5'- TTTGAAACCCCAGCTCCAG -3'
Sequencing Primer
(F):5'- CTGTGAAGACAGCACGTGG -3'
(R):5'- CAGCTCCAGCATCCAGC -3'
|
Posted On |
2015-02-19 |