Incidental Mutation 'R7536:R3hdm1'
ID |
585961 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
R3hdm1
|
Ensembl Gene |
ENSMUSG00000056211 |
Gene Name |
R3H domain containing 1 |
Synonyms |
|
MMRRC Submission |
045608-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7536 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
128031038-128165473 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 128109948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036288]
[ENSMUST00000187023]
[ENSMUST00000187900]
[ENSMUST00000188381]
[ENSMUST00000189317]
[ENSMUST00000190056]
|
AlphaFold |
E9Q9Q2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036288
|
SMART Domains |
Protein: ENSMUSP00000043103 Gene: ENSMUSG00000056211
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
low complexity region
|
86 |
99 |
N/A |
INTRINSIC |
R3H
|
151 |
228 |
3.18e-22 |
SMART |
Pfam:SUZ
|
249 |
302 |
8.8e-15 |
PFAM |
low complexity region
|
391 |
424 |
N/A |
INTRINSIC |
low complexity region
|
511 |
534 |
N/A |
INTRINSIC |
low complexity region
|
624 |
642 |
N/A |
INTRINSIC |
low complexity region
|
909 |
927 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000185853
|
Predicted Effect |
probably null
Transcript: ENSMUST00000187023
|
SMART Domains |
Protein: ENSMUSP00000139749 Gene: ENSMUSG00000056211
Domain | Start | End | E-Value | Type |
R3H
|
95 |
172 |
1.9e-24 |
SMART |
Pfam:SUZ
|
193 |
246 |
2.6e-11 |
PFAM |
low complexity region
|
335 |
368 |
N/A |
INTRINSIC |
low complexity region
|
455 |
478 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000187900
|
SMART Domains |
Protein: ENSMUSP00000141142 Gene: ENSMUSG00000056211
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
low complexity region
|
86 |
99 |
N/A |
INTRINSIC |
R3H
|
151 |
228 |
3.18e-22 |
SMART |
Pfam:SUZ
|
249 |
302 |
2.7e-14 |
PFAM |
low complexity region
|
391 |
424 |
N/A |
INTRINSIC |
low complexity region
|
511 |
534 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188381
|
SMART Domains |
Protein: ENSMUSP00000140538 Gene: ENSMUSG00000056211
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
R3H
|
107 |
184 |
3.18e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189317
|
SMART Domains |
Protein: ENSMUSP00000140175 Gene: ENSMUSG00000056211
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
low complexity region
|
72 |
85 |
N/A |
INTRINSIC |
R3H
|
137 |
214 |
1.9e-24 |
SMART |
Pfam:SUZ
|
235 |
287 |
2e-11 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000190056
|
SMART Domains |
Protein: ENSMUSP00000140209 Gene: ENSMUSG00000056211
Domain | Start | End | E-Value | Type |
low complexity region
|
82 |
115 |
N/A |
INTRINSIC |
low complexity region
|
202 |
225 |
N/A |
INTRINSIC |
low complexity region
|
281 |
299 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
AI597479 |
C |
G |
1: 43,150,505 (GRCm39) |
A205G |
possibly damaging |
Het |
Akr1c14 |
T |
A |
13: 4,113,690 (GRCm39) |
V74E |
probably damaging |
Het |
Armh4 |
G |
T |
14: 50,011,703 (GRCm39) |
|
probably null |
Het |
Bbs9 |
A |
T |
9: 22,582,096 (GRCm39) |
Q596L |
probably damaging |
Het |
Bub3 |
A |
G |
7: 131,170,432 (GRCm39) |
D318G |
probably damaging |
Het |
Cela1 |
A |
G |
15: 100,573,245 (GRCm39) |
V248A |
probably damaging |
Het |
Cer1 |
C |
A |
4: 82,803,205 (GRCm39) |
R39L |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,456,708 (GRCm39) |
T624A |
possibly damaging |
Het |
Coro1c |
C |
A |
5: 113,983,350 (GRCm39) |
G393W |
probably damaging |
Het |
Crym |
A |
G |
7: 119,800,331 (GRCm39) |
L97P |
probably damaging |
Het |
Cyp2a5 |
T |
G |
7: 26,539,903 (GRCm39) |
L317R |
probably damaging |
Het |
Cyp2j6 |
C |
A |
4: 96,423,774 (GRCm39) |
G198V |
probably damaging |
Het |
Dnajb6 |
A |
G |
5: 29,962,804 (GRCm39) |
E238G |
possibly damaging |
Het |
Dnhd1 |
C |
A |
7: 105,358,768 (GRCm39) |
T3419K |
probably damaging |
Het |
Dpep3 |
A |
T |
8: 106,704,032 (GRCm39) |
I262K |
probably damaging |
Het |
Dscam |
T |
G |
16: 96,442,226 (GRCm39) |
|
probably null |
Het |
Farsb |
A |
G |
1: 78,420,391 (GRCm39) |
V500A |
possibly damaging |
Het |
Fbxl20 |
A |
T |
11: 97,986,209 (GRCm39) |
C136* |
probably null |
Het |
Fbxo43 |
G |
T |
15: 36,161,997 (GRCm39) |
D403E |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,874,432 (GRCm39) |
S1397P |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,521,852 (GRCm39) |
Y497C |
probably damaging |
Het |
Gbp3 |
A |
T |
3: 142,272,156 (GRCm39) |
R219S |
probably damaging |
Het |
Gm14295 |
T |
A |
2: 176,502,722 (GRCm39) |
H737Q |
possibly damaging |
Het |
Gpr89 |
C |
A |
3: 96,798,209 (GRCm39) |
R149L |
probably damaging |
Het |
Greb1 |
A |
T |
12: 16,732,186 (GRCm39) |
Y1592N |
probably damaging |
Het |
Gria4 |
A |
C |
9: 4,464,298 (GRCm39) |
Y555D |
probably damaging |
Het |
Hspa1b |
T |
A |
17: 35,177,851 (GRCm39) |
T45S |
possibly damaging |
Het |
Kif5b |
A |
T |
18: 6,216,235 (GRCm39) |
N571K |
probably benign |
Het |
Mapkbp1 |
T |
A |
2: 119,849,066 (GRCm39) |
M694K |
probably damaging |
Het |
Med24 |
G |
A |
11: 98,603,447 (GRCm39) |
H439Y |
possibly damaging |
Het |
Mgl2 |
G |
T |
11: 70,027,833 (GRCm39) |
R347L |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,581,240 (GRCm39) |
L850Q |
probably damaging |
Het |
Mrpl51 |
T |
C |
6: 125,169,530 (GRCm39) |
V44A |
possibly damaging |
Het |
Mylk3 |
T |
C |
8: 86,080,233 (GRCm39) |
I485V |
probably benign |
Het |
Or10ag54 |
C |
T |
2: 87,099,943 (GRCm39) |
Q273* |
probably null |
Het |
Or7e174 |
C |
A |
9: 20,012,826 (GRCm39) |
T257K |
probably damaging |
Het |
Pde4dip |
A |
G |
3: 97,664,560 (GRCm39) |
L434P |
probably damaging |
Het |
Pla2g4a |
T |
C |
1: 149,755,768 (GRCm39) |
Y223C |
probably damaging |
Het |
Plcl1 |
C |
T |
1: 55,752,640 (GRCm39) |
Q995* |
probably null |
Het |
Pls1 |
C |
T |
9: 95,644,110 (GRCm39) |
C462Y |
probably damaging |
Het |
Ppp6r3 |
T |
C |
19: 3,557,341 (GRCm39) |
E249G |
possibly damaging |
Het |
Prb1a |
T |
A |
6: 132,184,184 (GRCm39) |
N483I |
unknown |
Het |
Rasgrp3 |
T |
C |
17: 75,821,128 (GRCm39) |
F445S |
probably damaging |
Het |
Rnf39 |
G |
T |
17: 37,254,009 (GRCm39) |
L10F |
probably damaging |
Het |
Rnh1 |
T |
C |
7: 140,740,725 (GRCm39) |
D410G |
possibly damaging |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Sh3bp2 |
A |
G |
5: 34,700,901 (GRCm39) |
T35A |
probably benign |
Het |
Skint6 |
T |
A |
4: 112,668,744 (GRCm39) |
|
probably null |
Het |
Slc13a1 |
A |
T |
6: 24,100,330 (GRCm39) |
D384E |
probably damaging |
Het |
Slc27a6 |
A |
G |
18: 58,689,698 (GRCm39) |
T55A |
probably damaging |
Het |
Slc46a2 |
G |
A |
4: 59,914,141 (GRCm39) |
Q261* |
probably null |
Het |
Spata31d1e |
C |
T |
13: 59,889,556 (GRCm39) |
V755M |
probably damaging |
Het |
St7 |
C |
G |
6: 17,886,019 (GRCm39) |
P327R |
probably damaging |
Het |
Stx1a |
T |
C |
5: 135,078,694 (GRCm39) |
I268T |
probably damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tgm7 |
T |
A |
2: 120,926,878 (GRCm39) |
R424* |
probably null |
Het |
Tmem144 |
A |
T |
3: 79,734,964 (GRCm39) |
N151K |
probably benign |
Het |
Tmem145 |
T |
C |
7: 25,007,294 (GRCm39) |
S171P |
probably damaging |
Het |
Traf2 |
A |
G |
2: 25,427,118 (GRCm39) |
Y78H |
possibly damaging |
Het |
Tsc22d1 |
A |
G |
14: 76,742,203 (GRCm39) |
Y16C |
probably benign |
Het |
Ttc39b |
A |
T |
4: 83,158,215 (GRCm39) |
Y503* |
probably null |
Het |
Ttn |
T |
C |
2: 76,547,681 (GRCm39) |
D32163G |
probably benign |
Het |
Uba6 |
A |
T |
5: 86,272,191 (GRCm39) |
S833T |
probably benign |
Het |
Wdtc1 |
A |
G |
4: 133,022,561 (GRCm39) |
L595P |
probably damaging |
Het |
|
Other mutations in R3hdm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00757:R3hdm1
|
APN |
1 |
128,164,176 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00799:R3hdm1
|
APN |
1 |
128,102,700 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00835:R3hdm1
|
APN |
1 |
128,163,369 (GRCm39) |
splice site |
probably benign |
|
IGL00885:R3hdm1
|
APN |
1 |
128,164,175 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00990:R3hdm1
|
APN |
1 |
128,089,933 (GRCm39) |
intron |
probably benign |
|
IGL01137:R3hdm1
|
APN |
1 |
128,109,612 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01323:R3hdm1
|
APN |
1 |
128,144,280 (GRCm39) |
missense |
probably benign |
|
IGL01461:R3hdm1
|
APN |
1 |
128,106,643 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01565:R3hdm1
|
APN |
1 |
128,114,553 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01813:R3hdm1
|
APN |
1 |
128,102,970 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01837:R3hdm1
|
APN |
1 |
128,114,497 (GRCm39) |
nonsense |
probably null |
|
IGL01934:R3hdm1
|
APN |
1 |
128,164,272 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02074:R3hdm1
|
APN |
1 |
128,096,775 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02532:R3hdm1
|
APN |
1 |
128,124,836 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02606:R3hdm1
|
APN |
1 |
128,118,456 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02851:R3hdm1
|
APN |
1 |
128,102,677 (GRCm39) |
splice site |
probably benign |
|
driven
|
UTSW |
1 |
128,121,302 (GRCm39) |
missense |
probably benign |
0.00 |
R0023:R3hdm1
|
UTSW |
1 |
128,138,929 (GRCm39) |
splice site |
probably benign |
|
R0280:R3hdm1
|
UTSW |
1 |
128,090,512 (GRCm39) |
missense |
probably benign |
0.00 |
R0482:R3hdm1
|
UTSW |
1 |
128,112,254 (GRCm39) |
missense |
probably benign |
0.12 |
R0521:R3hdm1
|
UTSW |
1 |
128,121,440 (GRCm39) |
missense |
probably benign |
0.07 |
R0578:R3hdm1
|
UTSW |
1 |
128,159,174 (GRCm39) |
nonsense |
probably null |
|
R0698:R3hdm1
|
UTSW |
1 |
128,109,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R0701:R3hdm1
|
UTSW |
1 |
128,109,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R0961:R3hdm1
|
UTSW |
1 |
128,121,333 (GRCm39) |
missense |
probably benign |
0.13 |
R1026:R3hdm1
|
UTSW |
1 |
128,124,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R1141:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
R1319:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
R1320:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
R1511:R3hdm1
|
UTSW |
1 |
128,124,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R1705:R3hdm1
|
UTSW |
1 |
128,162,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:R3hdm1
|
UTSW |
1 |
128,096,753 (GRCm39) |
missense |
probably damaging |
0.99 |
R2140:R3hdm1
|
UTSW |
1 |
128,118,430 (GRCm39) |
missense |
probably damaging |
0.99 |
R2437:R3hdm1
|
UTSW |
1 |
128,114,573 (GRCm39) |
missense |
probably damaging |
0.98 |
R2447:R3hdm1
|
UTSW |
1 |
128,114,666 (GRCm39) |
intron |
probably benign |
|
R4564:R3hdm1
|
UTSW |
1 |
128,149,396 (GRCm39) |
missense |
probably benign |
0.16 |
R4640:R3hdm1
|
UTSW |
1 |
128,102,975 (GRCm39) |
splice site |
probably benign |
|
R4649:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R4650:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R4652:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R4653:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R4696:R3hdm1
|
UTSW |
1 |
128,164,503 (GRCm39) |
utr 3 prime |
probably benign |
|
R5393:R3hdm1
|
UTSW |
1 |
128,159,084 (GRCm39) |
missense |
probably benign |
|
R5554:R3hdm1
|
UTSW |
1 |
128,164,409 (GRCm39) |
missense |
probably benign |
0.27 |
R5979:R3hdm1
|
UTSW |
1 |
128,138,960 (GRCm39) |
missense |
probably benign |
0.04 |
R6123:R3hdm1
|
UTSW |
1 |
128,096,773 (GRCm39) |
missense |
probably damaging |
0.99 |
R6185:R3hdm1
|
UTSW |
1 |
128,079,598 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6618:R3hdm1
|
UTSW |
1 |
128,121,302 (GRCm39) |
missense |
probably benign |
0.00 |
R6636:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
R6639:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
R6756:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
R7168:R3hdm1
|
UTSW |
1 |
128,144,232 (GRCm39) |
missense |
probably benign |
0.05 |
R7210:R3hdm1
|
UTSW |
1 |
128,138,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7367:R3hdm1
|
UTSW |
1 |
128,081,129 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7896:R3hdm1
|
UTSW |
1 |
128,096,703 (GRCm39) |
splice site |
probably null |
|
R8391:R3hdm1
|
UTSW |
1 |
128,121,215 (GRCm39) |
missense |
|
|
R8486:R3hdm1
|
UTSW |
1 |
128,106,657 (GRCm39) |
missense |
probably benign |
0.11 |
R8490:R3hdm1
|
UTSW |
1 |
128,162,864 (GRCm39) |
missense |
probably benign |
0.26 |
R8947:R3hdm1
|
UTSW |
1 |
128,102,694 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8990:R3hdm1
|
UTSW |
1 |
128,106,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R9141:R3hdm1
|
UTSW |
1 |
128,164,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R9195:R3hdm1
|
UTSW |
1 |
128,089,975 (GRCm39) |
missense |
probably benign |
0.28 |
R9426:R3hdm1
|
UTSW |
1 |
128,164,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R9469:R3hdm1
|
UTSW |
1 |
128,106,921 (GRCm39) |
critical splice donor site |
probably null |
|
X0017:R3hdm1
|
UTSW |
1 |
128,095,658 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0020:R3hdm1
|
UTSW |
1 |
128,096,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCAGGCCGATCGACAAAC -3'
(R):5'- AGAAATGAGCCAGTGAGCTATC -3'
Sequencing Primer
(F):5'- GCCATCAGAGCAGCACTG -3'
(R):5'- GCAACAGACAAAGAGATTTATTTCC -3'
|
Posted On |
2019-10-18 |