Incidental Mutation 'R0701:R3hdm1'
ID |
62990 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
R3hdm1
|
Ensembl Gene |
ENSMUSG00000056211 |
Gene Name |
R3H domain containing 1 |
Synonyms |
|
MMRRC Submission |
038884-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0701 (G1)
|
Quality Score |
97 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
128031038-128165473 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128109476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 309
(Y309C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141142
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036288]
[ENSMUST00000187023]
[ENSMUST00000187900]
[ENSMUST00000190056]
[ENSMUST00000190056]
[ENSMUST00000188381]
[ENSMUST00000189317]
|
AlphaFold |
E9Q9Q2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036288
AA Change: Y309C
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000043103 Gene: ENSMUSG00000056211 AA Change: Y309C
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 |
unknown
Transcript: ENSMUST00000185853
AA Change: Y21C
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187023
AA Change: Y253C
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000139749 Gene: ENSMUSG00000056211 AA Change: Y253C
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: Y309C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000141142 Gene: ENSMUSG00000056211 AA Change: Y309C
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: 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 |
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
|
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 91.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
A |
G |
2: 163,571,995 (GRCm39) |
V261A |
probably benign |
Het |
Arhgef10 |
T |
A |
8: 15,012,636 (GRCm39) |
V320E |
probably damaging |
Het |
Arhgef11 |
G |
T |
3: 87,640,766 (GRCm39) |
A1308S |
probably benign |
Het |
Bach1 |
G |
A |
16: 87,516,877 (GRCm39) |
E473K |
probably damaging |
Het |
Bsph1 |
G |
T |
7: 13,206,181 (GRCm39) |
C72F |
probably damaging |
Het |
C2cd2l |
A |
G |
9: 44,227,499 (GRCm39) |
L186P |
probably damaging |
Het |
C9 |
A |
C |
15: 6,496,902 (GRCm39) |
T200P |
probably damaging |
Het |
Cald1 |
AAGAGAGAGAGAGAG |
AAGAGAGAGAGAG |
6: 34,723,108 (GRCm39) |
|
probably null |
Het |
Chd1 |
C |
A |
17: 15,945,693 (GRCm39) |
N72K |
probably benign |
Het |
Copg1 |
T |
A |
6: 87,871,089 (GRCm39) |
Y268* |
probably null |
Het |
Csad |
A |
G |
15: 102,087,571 (GRCm39) |
S331P |
probably benign |
Het |
Ddx31 |
G |
T |
2: 28,748,789 (GRCm39) |
R239L |
probably null |
Het |
Fat1 |
G |
T |
8: 45,479,590 (GRCm39) |
A2879S |
probably benign |
Het |
Fig4 |
T |
A |
10: 41,116,508 (GRCm39) |
R628* |
probably null |
Het |
Fmnl3 |
T |
C |
15: 99,219,188 (GRCm39) |
N778S |
probably damaging |
Het |
Gm10912 |
T |
C |
2: 103,896,875 (GRCm39) |
S5P |
probably benign |
Het |
Haus3 |
G |
A |
5: 34,323,359 (GRCm39) |
T417M |
probably benign |
Het |
Herc1 |
T |
G |
9: 66,395,232 (GRCm39) |
V4189G |
probably damaging |
Het |
Hoxb3 |
C |
A |
11: 96,237,074 (GRCm39) |
S384* |
probably null |
Het |
Ifnar2 |
A |
G |
16: 91,201,117 (GRCm39) |
T453A |
possibly damaging |
Het |
Ift140 |
A |
G |
17: 25,309,907 (GRCm39) |
T1105A |
probably benign |
Het |
Kmt2e |
T |
C |
5: 23,678,581 (GRCm39) |
V220A |
probably benign |
Het |
Lrriq1 |
A |
T |
10: 103,069,905 (GRCm39) |
V37E |
probably benign |
Het |
Lrrn4 |
G |
A |
2: 132,712,080 (GRCm39) |
T581M |
probably benign |
Het |
Mcur1 |
T |
C |
13: 43,699,216 (GRCm39) |
Y267C |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,699,263 (GRCm39) |
D1313E |
probably benign |
Het |
Med13 |
T |
A |
11: 86,197,864 (GRCm39) |
T736S |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,314,677 (GRCm39) |
I503K |
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,953,094 (GRCm39) |
F1089L |
probably benign |
Het |
Or1e35 |
A |
T |
11: 73,797,655 (GRCm39) |
I221N |
probably damaging |
Het |
Or4c10 |
A |
G |
2: 89,760,545 (GRCm39) |
T131A |
probably benign |
Het |
Or4k48 |
C |
T |
2: 111,476,136 (GRCm39) |
V69I |
probably benign |
Het |
Pdgfd |
A |
T |
9: 6,359,706 (GRCm39) |
D259V |
probably damaging |
Het |
Pramel22 |
C |
T |
4: 143,383,010 (GRCm39) |
E70K |
possibly damaging |
Het |
Rab27b |
A |
T |
18: 70,118,270 (GRCm39) |
C216S |
probably damaging |
Het |
Robo2 |
A |
G |
16: 73,843,762 (GRCm39) |
I151T |
probably damaging |
Het |
Sh2d4a |
A |
G |
8: 68,783,747 (GRCm39) |
D227G |
probably damaging |
Het |
Sis |
G |
T |
3: 72,848,378 (GRCm39) |
T632K |
probably damaging |
Het |
Smcr8 |
T |
C |
11: 60,668,941 (GRCm39) |
Y30H |
probably damaging |
Het |
Stap1 |
T |
C |
5: 86,242,667 (GRCm39) |
|
probably null |
Het |
Syt16 |
G |
A |
12: 74,281,886 (GRCm39) |
V337I |
probably benign |
Het |
Taf1c |
A |
T |
8: 120,326,722 (GRCm39) |
I438N |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,728,412 (GRCm39) |
|
probably benign |
Het |
Unc45b |
T |
A |
11: 82,831,031 (GRCm39) |
L797Q |
possibly damaging |
Het |
Usp6nl |
A |
G |
2: 6,419,829 (GRCm39) |
E144G |
possibly damaging |
Het |
Wiz |
A |
T |
17: 32,575,415 (GRCm39) |
I907N |
probably damaging |
Het |
Zap70 |
G |
A |
1: 36,820,258 (GRCm39) |
R513Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTTCAGCAGCTAAGCCATC -3'
(R):5'- CTCTTGTCAGGACTGAGATTCCGC -3'
Sequencing Primer
(F):5'- GCTAAGCCATCGCTCTAGCC -3'
(R):5'- AGATTCCGCTAAAGCTGCTG -3'
|
Posted On |
2013-07-30 |