Incidental Mutation 'R2437:R3hdm1'
ID |
249617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
R3hdm1
|
Ensembl Gene |
ENSMUSG00000056211 |
Gene Name |
R3H domain containing 1 |
Synonyms |
|
MMRRC Submission |
040398-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2437 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
128031038-128165473 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128114573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 518
(V518A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141142
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036288]
[ENSMUST00000187023]
[ENSMUST00000187900]
[ENSMUST00000190056]
|
AlphaFold |
E9Q9Q2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036288
AA Change: V518A
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000043103 Gene: ENSMUSG00000056211 AA Change: V518A
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: V145A
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187023
AA Change: V462A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139749 Gene: ENSMUSG00000056211 AA Change: V462A
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 damaging
Transcript: ENSMUST00000187900
AA Change: V518A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141142 Gene: ENSMUSG00000056211 AA Change: V518A
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 |
possibly damaging
Transcript: ENSMUST00000190056
AA Change: V209A
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140209 Gene: ENSMUSG00000056211 AA Change: V209A
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
|
Meta Mutation Damage Score |
0.0876 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
A |
G |
4: 148,031,075 (GRCm39) |
*635W |
probably null |
Het |
Anxa2 |
A |
G |
9: 69,397,046 (GRCm39) |
Y317C |
probably damaging |
Het |
Arhgef26 |
T |
C |
3: 62,340,002 (GRCm39) |
S675P |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,012,834 (GRCm39) |
|
probably null |
Het |
Camk2d |
A |
G |
3: 126,628,277 (GRCm39) |
N53S |
probably damaging |
Het |
Carns1 |
A |
T |
19: 4,215,782 (GRCm39) |
M800K |
possibly damaging |
Het |
Ces1f |
A |
T |
8: 93,996,767 (GRCm39) |
|
probably null |
Het |
Chrne |
T |
A |
11: 70,506,086 (GRCm39) |
D426V |
possibly damaging |
Het |
Cntfr |
T |
C |
4: 41,671,035 (GRCm39) |
T43A |
probably damaging |
Het |
Cntn5 |
A |
T |
9: 10,048,758 (GRCm39) |
C63* |
probably null |
Het |
Col12a1 |
G |
A |
9: 79,599,501 (GRCm39) |
T884I |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,307,537 (GRCm39) |
|
probably null |
Het |
Dnajc2 |
A |
T |
5: 21,965,389 (GRCm39) |
S537R |
probably benign |
Het |
Dnajc25 |
T |
C |
4: 59,020,234 (GRCm39) |
I100T |
probably damaging |
Het |
Ephx1 |
C |
A |
1: 180,823,661 (GRCm39) |
G149C |
probably damaging |
Het |
Fam163b |
G |
T |
2: 27,002,698 (GRCm39) |
P100T |
probably damaging |
Het |
Fbxl9 |
A |
G |
8: 106,039,675 (GRCm39) |
|
probably null |
Het |
Fgd5 |
A |
T |
6: 92,039,850 (GRCm39) |
R1017* |
probably null |
Het |
Fibin |
A |
T |
2: 110,192,848 (GRCm39) |
L98Q |
probably damaging |
Het |
Fndc3b |
A |
T |
3: 27,505,481 (GRCm39) |
L929H |
probably damaging |
Het |
Frem1 |
T |
A |
4: 82,918,410 (GRCm39) |
S512C |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,659,829 (GRCm39) |
M298L |
probably benign |
Het |
Gstm2 |
G |
A |
3: 107,891,369 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
A |
G |
5: 31,317,042 (GRCm39) |
|
probably null |
Het |
Ibtk |
A |
C |
9: 85,590,178 (GRCm39) |
L1026V |
probably benign |
Het |
Il9 |
T |
A |
13: 56,629,684 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
T |
C |
1: 37,432,037 (GRCm39) |
S146P |
probably damaging |
Het |
Kcnab1 |
G |
T |
3: 65,264,435 (GRCm39) |
|
probably benign |
Het |
Mgat4c |
T |
C |
10: 102,224,436 (GRCm39) |
S217P |
probably damaging |
Het |
Mr1 |
T |
C |
1: 155,008,277 (GRCm39) |
M233V |
probably benign |
Het |
Ncoa2 |
G |
A |
1: 13,218,584 (GRCm39) |
T1415I |
probably damaging |
Het |
Oasl2 |
G |
A |
5: 115,049,357 (GRCm39) |
D486N |
probably benign |
Het |
Or1j14 |
A |
T |
2: 36,418,258 (GRCm39) |
Y278F |
probably damaging |
Het |
Or9a7 |
G |
A |
6: 40,521,856 (GRCm39) |
T19I |
probably benign |
Het |
Or9s27 |
T |
C |
1: 92,516,688 (GRCm39) |
I212T |
possibly damaging |
Het |
Pcnx4 |
T |
C |
12: 72,588,587 (GRCm39) |
F132L |
probably damaging |
Het |
Pde5a |
T |
A |
3: 122,636,702 (GRCm39) |
L717Q |
probably damaging |
Het |
Peli2 |
A |
T |
14: 48,465,389 (GRCm39) |
|
probably benign |
Het |
Phf14 |
A |
G |
6: 11,962,657 (GRCm39) |
S435G |
probably damaging |
Het |
Plekhg1 |
T |
A |
10: 3,913,564 (GRCm39) |
H1095Q |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,893,907 (GRCm39) |
|
probably null |
Het |
Plekho1 |
T |
G |
3: 95,899,497 (GRCm39) |
N99H |
probably damaging |
Het |
Plxnc1 |
T |
A |
10: 94,742,395 (GRCm39) |
K457N |
probably benign |
Het |
Ppp1r3a |
T |
C |
6: 14,718,322 (GRCm39) |
E864G |
probably benign |
Het |
Prkab2 |
T |
A |
3: 97,574,715 (GRCm39) |
L237Q |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptger3 |
T |
A |
3: 157,273,207 (GRCm39) |
C185S |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,230,709 (GRCm39) |
Y267H |
probably damaging |
Het |
Pum2 |
A |
G |
12: 8,794,654 (GRCm39) |
I715V |
probably benign |
Het |
Rab3d |
T |
C |
9: 21,827,147 (GRCm39) |
I28V |
probably damaging |
Het |
Rad54b |
T |
C |
4: 11,606,272 (GRCm39) |
L560P |
probably damaging |
Het |
Rgs20 |
A |
G |
1: 5,140,370 (GRCm39) |
|
probably null |
Het |
Sesn1 |
T |
A |
10: 41,781,315 (GRCm39) |
L460H |
probably damaging |
Het |
Slc39a14 |
A |
G |
14: 70,553,885 (GRCm39) |
|
probably null |
Het |
Slco6c1 |
T |
A |
1: 96,990,201 (GRCm39) |
H663L |
probably benign |
Het |
Snx13 |
T |
A |
12: 35,132,926 (GRCm39) |
C63S |
probably benign |
Het |
Spmip4 |
T |
A |
6: 50,560,959 (GRCm39) |
D212V |
probably damaging |
Het |
Strip2 |
T |
C |
6: 29,941,940 (GRCm39) |
|
probably null |
Het |
Syncrip |
A |
G |
9: 88,361,620 (GRCm39) |
|
probably benign |
Het |
Taf15 |
A |
G |
11: 83,395,579 (GRCm39) |
|
probably benign |
Het |
Tbc1d8 |
T |
C |
1: 39,444,368 (GRCm39) |
|
probably null |
Het |
Tgm4 |
T |
A |
9: 122,877,614 (GRCm39) |
C205* |
probably null |
Het |
Tmem212 |
A |
T |
3: 27,940,628 (GRCm39) |
L63Q |
possibly damaging |
Het |
Tmem63a |
G |
A |
1: 180,790,054 (GRCm39) |
|
probably null |
Het |
Trpm5 |
C |
A |
7: 142,636,298 (GRCm39) |
V525L |
probably benign |
Het |
Ttn |
A |
G |
2: 76,537,171 (GRCm39) |
L34919P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,694,619 (GRCm39) |
|
probably benign |
Het |
Tuba4a |
T |
C |
1: 75,194,069 (GRCm39) |
I4V |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,200,853 (GRCm39) |
D4679G |
possibly damaging |
Het |
Usp2 |
T |
G |
9: 44,003,445 (GRCm39) |
V448G |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,453,024 (GRCm39) |
|
probably null |
Het |
Zfp341 |
T |
A |
2: 154,470,721 (GRCm39) |
V246E |
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 |
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'- CCCAAGCTAAGTGTCTTAAGAAAC -3'
(R):5'- TACTGAGTGGGACATCAGCG -3'
Sequencing Primer
(F):5'- GAAACTTGAGACTTTTGGAATTTTGC -3'
(R):5'- CATCAGCGGGAACAGAGTATTAAAGC -3'
|
Posted On |
2014-11-12 |