Incidental Mutation 'PIT4472001:R3hdm4'
| ID |
555871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hdm4
|
| Ensembl Gene |
ENSMUSG00000035781 |
| Gene Name |
R3H domain containing 4 |
| Synonyms |
C030046I01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
PIT4472001 (G1)
|
| Quality Score |
150.008 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79745886-79752764 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 79749389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045529]
[ENSMUST00000045628]
[ENSMUST00000105378]
[ENSMUST00000164705]
[ENSMUST00000165684]
[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 null
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 |
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 null
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 |
probably benign
Transcript: ENSMUST00000181321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217976
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218750
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219867
|
| Coding Region Coverage |
- 1x: 93.7%
- 3x: 90.8%
- 10x: 84.2%
- 20x: 70.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
A |
9: 99,502,613 (GRCm39) |
P258T |
probably damaging |
Het |
| Arvcf |
T |
C |
16: 18,221,699 (GRCm39) |
V714A |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,422,726 (GRCm39) |
I532V |
probably damaging |
Het |
| Cbr1 |
T |
A |
16: 93,406,692 (GRCm39) |
V136E |
probably damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,126,184 (GRCm39) |
M102V |
unknown |
Het |
| Ccr1 |
T |
C |
9: 123,763,765 (GRCm39) |
Y255C |
probably damaging |
Het |
| Cd300e |
T |
A |
11: 114,945,336 (GRCm39) |
I153F |
possibly damaging |
Het |
| Chd7 |
C |
T |
4: 8,753,101 (GRCm39) |
L533F |
unknown |
Het |
| Cpvl |
A |
T |
6: 53,873,464 (GRCm39) |
F424Y |
possibly damaging |
Het |
| Cxcl16 |
C |
T |
11: 70,349,625 (GRCm39) |
G80R |
probably damaging |
Het |
| Cyp2g1 |
T |
C |
7: 26,513,619 (GRCm39) |
V186A |
probably benign |
Het |
| Cyp4f15 |
T |
A |
17: 32,921,798 (GRCm39) |
M490K |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,155,774 (GRCm39) |
V1160D |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,148,421 (GRCm39) |
D2609G |
possibly damaging |
Het |
| Fgf5 |
T |
A |
5: 98,409,838 (GRCm39) |
V129E |
probably damaging |
Het |
| Fhl5 |
C |
A |
4: 25,211,194 (GRCm39) |
C166F |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,890,374 (GRCm39) |
T1035I |
probably benign |
Het |
| Gcnt2 |
G |
A |
13: 41,071,413 (GRCm39) |
V19M |
probably benign |
Het |
| Gga1 |
C |
A |
15: 78,777,836 (GRCm39) |
A595D |
probably damaging |
Het |
| Gpaa1 |
C |
T |
15: 76,218,940 (GRCm39) |
T594I |
probably benign |
Het |
| Gskip |
C |
T |
12: 105,651,121 (GRCm39) |
|
probably benign |
Het |
| Ighv1-72 |
A |
G |
12: 115,721,620 (GRCm39) |
V112A |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,138,732 (GRCm39) |
T185S |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,071,699 (GRCm39) |
V862A |
|
Het |
| Lats2 |
A |
C |
14: 57,936,814 (GRCm39) |
Y558* |
probably null |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Mnx1 |
T |
C |
5: 29,679,105 (GRCm39) |
E326G |
unknown |
Het |
| Mtmr10 |
A |
G |
7: 63,983,106 (GRCm39) |
E471G |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,855,310 (GRCm39) |
V12M |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,945,273 (GRCm39) |
V2177M |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,894,306 (GRCm39) |
E693G |
unknown |
Het |
| Pclo |
T |
C |
5: 14,763,182 (GRCm39) |
M600T |
possibly damaging |
Het |
| Pdgfra |
T |
A |
5: 75,340,907 (GRCm39) |
M622K |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,663,209 (GRCm39) |
L428P |
probably damaging |
Het |
| Pfkfb4 |
T |
C |
9: 108,828,222 (GRCm39) |
Y86H |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,254,983 (GRCm39) |
Y335H |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,854,477 (GRCm39) |
V150M |
|
Het |
| Pou4f3 |
A |
G |
18: 42,527,717 (GRCm39) |
M4V |
probably benign |
Het |
| Ppp1r13b |
G |
A |
12: 111,799,074 (GRCm39) |
R864C |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,152,381 (GRCm39) |
V301D |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,667,460 (GRCm39) |
T879M |
probably damaging |
Het |
| Strip1 |
G |
A |
3: 107,535,486 (GRCm39) |
A79V |
probably benign |
Het |
| Tpgs2 |
G |
A |
18: 25,301,652 (GRCm39) |
T5M |
possibly damaging |
Het |
| Trim34a |
T |
A |
7: 103,897,155 (GRCm39) |
L73Q |
probably damaging |
Het |
| Trpv4 |
T |
A |
5: 114,764,984 (GRCm39) |
T677S |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly 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 |
|
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 |
|
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'- AAAGATTGGGGTCATGCAGC -3'
(R):5'- ATGAAGCCCCTTGTTGCCAG -3'
Sequencing Primer
(F):5'- ATGCAGCCCTGGGTTCCTAC -3'
(R):5'- CCCTTGTTGCCAGGGAAAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation