Incidental Mutation 'R7983:R3hdm4'
| ID |
651324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hdm4
|
| Ensembl Gene |
ENSMUSG00000035781 |
| Gene Name |
R3H domain containing 4 |
| Synonyms |
C030046I01Rik |
| MMRRC Submission |
046024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R7983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79745886-79752764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79748557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 129
(V129E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044570
(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: V129E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781
AA Change: V129E
| 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 |
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: V129E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781
AA Change: V129E
| 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 |
probably benign
Transcript: ENSMUST00000181321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217976
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218750
AA Change: V119E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219867
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (39/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casd1 |
G |
T |
6: 4,624,472 (GRCm39) |
E422* |
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,607,559 (GRCm39) |
T1007A |
possibly damaging |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
G |
2: 132,105,430 (GRCm39) |
|
probably null |
Het |
| Cfap100 |
G |
A |
6: 90,392,687 (GRCm39) |
T141I |
|
Het |
| Chd7 |
T |
A |
4: 8,752,628 (GRCm39) |
M375K |
unknown |
Het |
| Chd7 |
T |
A |
4: 8,844,609 (GRCm39) |
S1573T |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,251,299 (GRCm39) |
V1857E |
probably benign |
Het |
| Crybb2 |
T |
C |
5: 113,209,946 (GRCm39) |
E139G |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,842,356 (GRCm39) |
T224A |
probably benign |
Het |
| Csnk2b |
T |
C |
17: 35,335,304 (GRCm39) |
H231R |
possibly damaging |
Het |
| Cthrc1 |
A |
G |
15: 38,940,550 (GRCm39) |
D51G |
probably benign |
Het |
| Cyp2a5 |
A |
T |
7: 26,539,866 (GRCm39) |
T305S |
probably benign |
Het |
| Cyp4a29 |
A |
T |
4: 115,108,099 (GRCm39) |
D307V |
probably damaging |
Het |
| Dhrs7b |
T |
C |
11: 60,743,287 (GRCm39) |
V188A |
possibly damaging |
Het |
| Dna2 |
A |
G |
10: 62,791,173 (GRCm39) |
D224G |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,282,584 (GRCm39) |
L2906M |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,878,904 (GRCm39) |
E545D |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,972 (GRCm39) |
F358S |
possibly damaging |
Het |
| Galnt16 |
C |
T |
12: 80,648,598 (GRCm39) |
H557Y |
probably benign |
Het |
| Kcnb2 |
T |
C |
1: 15,383,004 (GRCm39) |
M110T |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,830,409 (GRCm39) |
I144V |
probably benign |
Het |
| Napsa |
T |
A |
7: 44,234,751 (GRCm39) |
N295K |
possibly damaging |
Het |
| Nup50l |
C |
A |
6: 96,142,888 (GRCm39) |
G52V |
probably damaging |
Het |
| Or2ag20 |
T |
C |
7: 106,464,958 (GRCm39) |
V257A |
probably benign |
Het |
| Or5k1b |
G |
A |
16: 58,581,377 (GRCm39) |
S54F |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,615,164 (GRCm39) |
D778G |
probably damaging |
Het |
| Pnlip |
G |
A |
19: 58,668,491 (GRCm39) |
V361I |
probably benign |
Het |
| Pou4f2 |
G |
T |
8: 79,161,568 (GRCm39) |
A345E |
probably benign |
Het |
| Prr11 |
C |
T |
11: 86,982,637 (GRCm39) |
D365N |
possibly damaging |
Het |
| Ptprq |
G |
T |
10: 107,444,272 (GRCm39) |
S1444* |
probably null |
Het |
| Retnlg |
T |
C |
16: 48,693,261 (GRCm39) |
S13P |
probably damaging |
Het |
| Rgmb |
T |
C |
17: 16,041,189 (GRCm39) |
T133A |
possibly damaging |
Het |
| Rin3 |
A |
C |
12: 102,335,418 (GRCm39) |
H443P |
probably benign |
Het |
| Rnf152 |
T |
C |
1: 105,212,089 (GRCm39) |
D156G |
probably benign |
Het |
| Sfmbt1 |
A |
G |
14: 30,519,673 (GRCm39) |
|
probably null |
Het |
| Slc25a46 |
G |
A |
18: 31,716,483 (GRCm39) |
R340C |
probably damaging |
Het |
| Sp4 |
A |
T |
12: 118,264,967 (GRCm39) |
M1K |
probably null |
Het |
| Ss18l2 |
T |
C |
9: 121,541,675 (GRCm39) |
I64T |
probably damaging |
Het |
| Sult2a4 |
G |
A |
7: 13,649,152 (GRCm39) |
S219F |
probably damaging |
Het |
| Tnip3 |
A |
C |
6: 65,515,630 (GRCm39) |
D25A |
probably damaging |
Het |
| Trac |
A |
G |
14: 54,458,214 (GRCm39) |
T79A |
|
Het |
| Vmn2r36 |
A |
G |
7: 7,905,415 (GRCm39) |
L16P |
probably damaging |
Het |
| Zswim2 |
A |
G |
2: 83,753,911 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AGACAGGGTCCTCTGTGAAG -3'
(R):5'- TATCACTGGGGCTTCCATGG -3'
Sequencing Primer
(F):5'- CTGTGAAGACAGCACGTGG -3'
(R):5'- GAGTGGGTCGTGCCTGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation