Incidental Mutation 'IGL01461:R3hdm1'
ID |
87991 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
R3hdm1
|
Ensembl Gene |
ENSMUSG00000056211 |
Gene Name |
R3H domain containing 1 |
Synonyms |
|
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01461
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
128103301-128237736 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128178906 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 197
(H197R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140538
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036288]
[ENSMUST00000187023]
[ENSMUST00000187900]
[ENSMUST00000188381]
[ENSMUST00000189317]
[ENSMUST00000190056]
|
AlphaFold |
E9Q9Q2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036288
AA Change: H241R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000043103 Gene: ENSMUSG00000056211 AA Change: H241R
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 |
possibly damaging
Transcript: ENSMUST00000187023
AA Change: H185R
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000139749 Gene: ENSMUSG00000056211 AA Change: H185R
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 |
noncoding transcript
Transcript: ENSMUST00000187605
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187900
AA Change: H241R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141142 Gene: ENSMUSG00000056211 AA Change: H241R
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 damaging
Transcript: ENSMUST00000188381
AA Change: H197R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140538 Gene: ENSMUSG00000056211 AA Change: H197R
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
R3H
|
107 |
184 |
3.18e-22 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189317
AA Change: H227R
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140175 Gene: ENSMUSG00000056211 AA Change: H227R
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 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191274
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,281,095 |
F767S |
probably benign |
Het |
2810474O19Rik |
T |
C |
6: 149,331,515 |
|
probably benign |
Het |
Abca13 |
A |
G |
11: 9,403,834 |
T3719A |
probably damaging |
Het |
Apob |
A |
T |
12: 8,001,884 |
M1137L |
probably benign |
Het |
Brd9 |
C |
T |
13: 73,951,598 |
Q445* |
probably null |
Het |
Cdh23 |
T |
C |
10: 60,409,147 |
T990A |
possibly damaging |
Het |
Cenpf |
A |
G |
1: 189,657,096 |
L1513S |
probably damaging |
Het |
Col27a1 |
A |
G |
4: 63,224,243 |
K56R |
probably damaging |
Het |
Cryaa |
A |
G |
17: 31,681,026 |
Y118C |
probably damaging |
Het |
Dtl |
T |
C |
1: 191,546,617 |
T378A |
possibly damaging |
Het |
E330020D12Rik |
A |
G |
1: 153,408,359 |
|
noncoding transcript |
Het |
F7 |
A |
G |
8: 13,032,245 |
D145G |
possibly damaging |
Het |
Flvcr2 |
A |
G |
12: 85,803,131 |
|
probably benign |
Het |
Hltf |
A |
T |
3: 20,099,939 |
K680* |
probably null |
Het |
Ing1 |
T |
G |
8: 11,561,453 |
F22V |
probably benign |
Het |
Ipo5 |
A |
G |
14: 120,928,533 |
D330G |
probably damaging |
Het |
Itgax |
G |
T |
7: 128,135,018 |
D321Y |
probably damaging |
Het |
Kdelc1 |
T |
C |
1: 44,110,934 |
Q365R |
probably damaging |
Het |
Kel |
A |
C |
6: 41,701,911 |
|
probably null |
Het |
March10 |
T |
C |
11: 105,389,605 |
K618R |
probably damaging |
Het |
Mast4 |
T |
A |
13: 102,754,068 |
M925L |
probably damaging |
Het |
Miga1 |
C |
T |
3: 152,335,297 |
E78K |
probably damaging |
Het |
Olfr1204 |
G |
T |
2: 88,852,325 |
C125F |
probably damaging |
Het |
Olfr58 |
T |
A |
9: 19,783,949 |
|
probably null |
Het |
Pkdrej |
T |
C |
15: 85,820,374 |
I454V |
possibly damaging |
Het |
Prpf6 |
C |
A |
2: 181,631,511 |
T283N |
probably benign |
Het |
Smpd4 |
A |
C |
16: 17,621,506 |
Q7P |
probably damaging |
Het |
Vmn2r84 |
A |
T |
10: 130,391,225 |
I248K |
possibly damaging |
Het |
|
Other mutations in R3hdm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00757:R3hdm1
|
APN |
1 |
128236439 |
missense |
probably damaging |
1.00 |
IGL00799:R3hdm1
|
APN |
1 |
128174963 |
missense |
probably damaging |
1.00 |
IGL00835:R3hdm1
|
APN |
1 |
128235632 |
splice site |
probably benign |
|
IGL00885:R3hdm1
|
APN |
1 |
128236438 |
missense |
probably damaging |
0.99 |
IGL00990:R3hdm1
|
APN |
1 |
128162196 |
intron |
probably benign |
|
IGL01137:R3hdm1
|
APN |
1 |
128181875 |
missense |
probably damaging |
1.00 |
IGL01323:R3hdm1
|
APN |
1 |
128216543 |
missense |
probably benign |
|
IGL01565:R3hdm1
|
APN |
1 |
128186816 |
missense |
probably damaging |
1.00 |
IGL01813:R3hdm1
|
APN |
1 |
128175233 |
critical splice donor site |
probably null |
|
IGL01837:R3hdm1
|
APN |
1 |
128186760 |
nonsense |
probably null |
|
IGL01934:R3hdm1
|
APN |
1 |
128236535 |
missense |
probably benign |
0.12 |
IGL02074:R3hdm1
|
APN |
1 |
128169038 |
missense |
possibly damaging |
0.48 |
IGL02532:R3hdm1
|
APN |
1 |
128197099 |
critical splice donor site |
probably null |
|
IGL02606:R3hdm1
|
APN |
1 |
128190719 |
missense |
probably benign |
0.00 |
IGL02851:R3hdm1
|
APN |
1 |
128174940 |
splice site |
probably benign |
|
driven
|
UTSW |
1 |
128193565 |
missense |
probably benign |
0.00 |
R0023:R3hdm1
|
UTSW |
1 |
128211192 |
splice site |
probably benign |
|
R0280:R3hdm1
|
UTSW |
1 |
128162775 |
missense |
probably benign |
0.00 |
R0482:R3hdm1
|
UTSW |
1 |
128184517 |
missense |
probably benign |
0.12 |
R0521:R3hdm1
|
UTSW |
1 |
128193703 |
missense |
probably benign |
0.07 |
R0578:R3hdm1
|
UTSW |
1 |
128231437 |
nonsense |
probably null |
|
R0698:R3hdm1
|
UTSW |
1 |
128181739 |
missense |
probably damaging |
1.00 |
R0701:R3hdm1
|
UTSW |
1 |
128181739 |
missense |
probably damaging |
1.00 |
R0961:R3hdm1
|
UTSW |
1 |
128193596 |
missense |
probably benign |
0.13 |
R1026:R3hdm1
|
UTSW |
1 |
128197005 |
missense |
probably damaging |
1.00 |
R1141:R3hdm1
|
UTSW |
1 |
128231405 |
missense |
probably benign |
0.01 |
R1319:R3hdm1
|
UTSW |
1 |
128231405 |
missense |
probably benign |
0.01 |
R1320:R3hdm1
|
UTSW |
1 |
128231405 |
missense |
probably benign |
0.01 |
R1511:R3hdm1
|
UTSW |
1 |
128197005 |
missense |
probably damaging |
1.00 |
R1705:R3hdm1
|
UTSW |
1 |
128235084 |
missense |
probably damaging |
1.00 |
R1991:R3hdm1
|
UTSW |
1 |
128169016 |
missense |
probably damaging |
0.99 |
R2140:R3hdm1
|
UTSW |
1 |
128190693 |
missense |
probably damaging |
0.99 |
R2437:R3hdm1
|
UTSW |
1 |
128186836 |
missense |
probably damaging |
0.98 |
R2447:R3hdm1
|
UTSW |
1 |
128186929 |
intron |
probably benign |
|
R4564:R3hdm1
|
UTSW |
1 |
128221659 |
missense |
probably benign |
0.16 |
R4640:R3hdm1
|
UTSW |
1 |
128175238 |
splice site |
probably benign |
|
R4649:R3hdm1
|
UTSW |
1 |
128184444 |
missense |
probably damaging |
1.00 |
R4650:R3hdm1
|
UTSW |
1 |
128184444 |
missense |
probably damaging |
1.00 |
R4652:R3hdm1
|
UTSW |
1 |
128184444 |
missense |
probably damaging |
1.00 |
R4653:R3hdm1
|
UTSW |
1 |
128184444 |
missense |
probably damaging |
1.00 |
R4696:R3hdm1
|
UTSW |
1 |
128236766 |
utr 3 prime |
probably benign |
|
R5393:R3hdm1
|
UTSW |
1 |
128231347 |
missense |
probably benign |
|
R5554:R3hdm1
|
UTSW |
1 |
128236672 |
missense |
probably benign |
0.27 |
R5979:R3hdm1
|
UTSW |
1 |
128211223 |
missense |
probably benign |
0.04 |
R6123:R3hdm1
|
UTSW |
1 |
128169036 |
missense |
probably damaging |
0.99 |
R6185:R3hdm1
|
UTSW |
1 |
128151861 |
missense |
possibly damaging |
0.93 |
R6618:R3hdm1
|
UTSW |
1 |
128193565 |
missense |
probably benign |
0.00 |
R6636:R3hdm1
|
UTSW |
1 |
128162811 |
frame shift |
probably null |
|
R6639:R3hdm1
|
UTSW |
1 |
128162811 |
frame shift |
probably null |
|
R6756:R3hdm1
|
UTSW |
1 |
128162811 |
frame shift |
probably null |
|
R7168:R3hdm1
|
UTSW |
1 |
128216495 |
missense |
probably benign |
0.05 |
R7210:R3hdm1
|
UTSW |
1 |
128211208 |
missense |
possibly damaging |
0.95 |
R7367:R3hdm1
|
UTSW |
1 |
128153392 |
missense |
possibly damaging |
0.64 |
R7536:R3hdm1
|
UTSW |
1 |
128182211 |
splice site |
probably null |
|
R7896:R3hdm1
|
UTSW |
1 |
128168966 |
splice site |
probably null |
|
R8391:R3hdm1
|
UTSW |
1 |
128193478 |
missense |
|
|
R8486:R3hdm1
|
UTSW |
1 |
128178920 |
missense |
probably benign |
0.11 |
R8490:R3hdm1
|
UTSW |
1 |
128235127 |
missense |
probably benign |
0.26 |
R8947:R3hdm1
|
UTSW |
1 |
128174957 |
missense |
possibly damaging |
0.60 |
R8990:R3hdm1
|
UTSW |
1 |
128179096 |
missense |
probably damaging |
1.00 |
R9141:R3hdm1
|
UTSW |
1 |
128236475 |
missense |
probably damaging |
1.00 |
R9195:R3hdm1
|
UTSW |
1 |
128162238 |
missense |
probably benign |
0.28 |
R9426:R3hdm1
|
UTSW |
1 |
128236475 |
missense |
probably damaging |
1.00 |
R9469:R3hdm1
|
UTSW |
1 |
128179184 |
critical splice donor site |
probably null |
|
X0017:R3hdm1
|
UTSW |
1 |
128167921 |
missense |
possibly damaging |
0.92 |
X0020:R3hdm1
|
UTSW |
1 |
128169033 |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-18 |