Incidental Mutation 'IGL02606:R3hdm1'
| ID |
300255 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
R3hdm1
|
| Ensembl Gene |
ENSMUSG00000056211 |
| Gene Name |
R3H domain containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02606
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
128031038-128165473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128118456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 570
(P570S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036288]
[ENSMUST00000187023]
[ENSMUST00000187900]
[ENSMUST00000190056]
|
| AlphaFold |
E9Q9Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036288
AA Change: P570S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: P570S
| 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 |
noncoding transcript
Transcript: ENSMUST00000185471
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185853
|
| Predicted Effect |
probably benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000189982
|
| Predicted Effect |
probably benign
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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,099,978 (GRCm39) |
N74I |
probably benign |
Het |
| Abr |
T |
C |
11: 76,369,990 (GRCm39) |
K75R |
probably damaging |
Het |
| Adcy10 |
A |
C |
1: 165,347,087 (GRCm39) |
D368A |
possibly damaging |
Het |
| Alas1 |
A |
G |
9: 106,118,309 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,576,949 (GRCm39) |
D168E |
probably benign |
Het |
| Ankar |
C |
T |
1: 72,729,444 (GRCm39) |
A82T |
possibly damaging |
Het |
| Atp2c2 |
C |
T |
8: 120,457,013 (GRCm39) |
T205I |
probably benign |
Het |
| Atp9a |
A |
T |
2: 168,494,588 (GRCm39) |
L639Q |
probably damaging |
Het |
| Btf3l4 |
T |
C |
4: 108,675,411 (GRCm39) |
D134G |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,007,257 (GRCm39) |
C425R |
probably damaging |
Het |
| Cct6b |
G |
T |
11: 82,627,271 (GRCm39) |
T322N |
probably damaging |
Het |
| Col19a1 |
G |
A |
1: 24,573,197 (GRCm39) |
R192* |
probably null |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,801 (GRCm39) |
F177Y |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,063,941 (GRCm39) |
N474K |
probably benign |
Het |
| Dusp16 |
T |
C |
6: 134,737,999 (GRCm39) |
E13G |
probably damaging |
Het |
| Ephx2 |
T |
C |
14: 66,323,741 (GRCm39) |
N397S |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,122,913 (GRCm39) |
V145A |
possibly damaging |
Het |
| Fiz1 |
A |
G |
7: 5,012,158 (GRCm39) |
L120P |
possibly damaging |
Het |
| Galnt6 |
C |
T |
15: 100,612,100 (GRCm39) |
V181M |
probably damaging |
Het |
| Ginm1 |
A |
G |
10: 7,646,163 (GRCm39) |
V279A |
probably damaging |
Het |
| Gja10 |
T |
G |
4: 32,601,509 (GRCm39) |
I292L |
probably benign |
Het |
| Gnb3 |
T |
C |
6: 124,814,378 (GRCm39) |
S136G |
probably benign |
Het |
| Gramd1a |
A |
T |
7: 30,833,940 (GRCm39) |
V495E |
probably damaging |
Het |
| Il1rn |
G |
T |
2: 24,235,462 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,333,486 (GRCm39) |
|
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,195,937 (GRCm39) |
S229P |
possibly damaging |
Het |
| Kdm4a |
T |
C |
4: 118,017,486 (GRCm39) |
T527A |
probably benign |
Het |
| Kif14 |
C |
T |
1: 136,424,331 (GRCm39) |
A982V |
probably damaging |
Het |
| Klf6 |
A |
G |
13: 5,916,734 (GRCm39) |
K293R |
probably damaging |
Het |
| Letmd1 |
A |
G |
15: 100,372,972 (GRCm39) |
D92G |
probably damaging |
Het |
| Lmod1 |
G |
A |
1: 135,292,218 (GRCm39) |
V358M |
probably benign |
Het |
| Ndufs1 |
A |
T |
1: 63,199,011 (GRCm39) |
D295E |
probably damaging |
Het |
| Nek4 |
A |
G |
14: 30,685,916 (GRCm39) |
N283S |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,387,385 (GRCm39) |
T220A |
probably damaging |
Het |
| Nucks1 |
T |
A |
1: 131,852,363 (GRCm39) |
D71E |
probably damaging |
Het |
| Or4n4 |
T |
C |
14: 50,519,530 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8g18 |
C |
A |
9: 39,149,490 (GRCm39) |
V77F |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,452,852 (GRCm39) |
T3926A |
probably benign |
Het |
| Pptc7 |
T |
A |
5: 122,451,651 (GRCm39) |
|
probably benign |
Het |
| Prdm11 |
A |
G |
2: 92,805,948 (GRCm39) |
V334A |
probably benign |
Het |
| Ptdss2 |
C |
A |
7: 140,732,911 (GRCm39) |
C231* |
probably null |
Het |
| Rlbp1 |
T |
C |
7: 79,027,037 (GRCm39) |
T208A |
possibly damaging |
Het |
| Rnaseh2a |
T |
G |
8: 85,686,723 (GRCm39) |
D142A |
probably damaging |
Het |
| Rufy4 |
C |
T |
1: 74,172,509 (GRCm39) |
|
probably benign |
Het |
| Tektl1 |
A |
G |
10: 78,584,300 (GRCm39) |
Y372H |
probably benign |
Het |
| Tlcd4 |
G |
T |
3: 121,022,013 (GRCm39) |
D128E |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,646,565 (GRCm39) |
I11081T |
possibly damaging |
Het |
| Ubap2l |
A |
T |
3: 89,945,735 (GRCm39) |
S173R |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,926,959 (GRCm39) |
N23S |
probably damaging |
Het |
| Vwce |
C |
A |
19: 10,632,712 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R7536:R3hdm1
|
UTSW |
1 |
128,109,948 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation